CEACAM6
gene geneOn this page
Also known as CD66cNCA-50/90
Summary
CEACAM6 (CEA cell adhesion molecule 6, HGNC:1818) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM6 (P40199). Cell surface glycoprotein that plays a role in cell adhesion and tumor progression.
This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn’s disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19.
Source: NCBI Gene 4680 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cystic fibrosis (Supportive, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 53 total
- GTEx eGene: eQTL in 8 tissues, sQTL in 1 (q < 0.05)
- Phenotypes (HPO): 35
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.91 (unconstrained)
- MANE Select transcript:
NM_002483 - Notable: 53 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1818 |
| Approved symbol | CEACAM6 |
| Name | CEA cell adhesion molecule 6 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD66c, NCA-50/90 |
| Ensembl gene | ENSG00000086548 |
| Ensembl biotype | protein_coding |
| OMIM | 163980 |
| Entrez | 4680 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
MANE Select: ENST00000199764
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 4: 1
ENST00000199764, ENST00000595740, ENST00000890871, ENST00000943164, ENST00001119190, ENST00001140243
RefSeq mRNA: 1 — MANE Select: NM_002483
NM_002483
CCDS: CCDS12585
Canonical transcript exons
ENST00000199764 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000842495 | 41766183 | 41766299 |
| ENSE00001053047 | 41770802 | 41772211 |
| ENSE00001806789 | 41755530 | 41755702 |
| ENSE00002438901 | 41756600 | 41756959 |
| ENSE00002477928 | 41761969 | 41762223 |
| ENSE00002506588 | 41761249 | 41761527 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 99.94.
FANTOM5 (CAGE): breadth broad, TPM avg 7.6087 / max 1657.3322, expressed in 480 samples.
Highest expression (Bgee): pancreatic ductal cell, palpebral conjunctiva, nasal cavity epithelium, colonic mucosa, mucosa of sigmoid colon.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CEACAM6 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
9 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Esophagus Mucosa | eqtl | 1.9e-05 | -0.13 | 19:41802009:A:G |
| Minor Salivary Gland | eqtl | 6.4e-03 | -1.06 | 19:41474116:C:T |
| Nerve Tibial | eqtl | 7.0e-03 | +0.98 | 19:41312640:T:G |
| Adipose Subcutaneous | eqtl | 1.8e-02 | -0.70 | 19:41698003:G:A |
| Brain Cerebellar Hemisphere | eqtl | 2.0e-02 | +0.73 | 19:42445999:G:A |
| Skin Sun Exposed Lower leg | sqtl | 2.4e-02 | -0.90 | 19:41755328:G:A |
| Whole Blood | eqtl | 3.1e-02 | -0.09 | 19:41759235:A:G |
| Liver | eqtl | 3.2e-02 | -0.56 | 19:41237549:C:A |
| Heart Left Ventricle | eqtl | 4.0e-02 | -1.03 | 19:41116576:G:C |
FANTOM5 promoters
4 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176057 | 7.0306 | 472 |
| 176058 | 0.3670 | 82 |
| 176059 | 0.1817 | 49 |
| 176056 | 0.0293 | 14 |
Top tissues by expression
showing 100 of 275 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.94 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.87 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.57 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.43 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.38 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.36 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.36 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.26 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.20 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.19 | gold quality |
| bronchus | UBERON:0002185 | 99.19 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.19 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.15 | gold quality |
| nasopharynx | UBERON:0001728 | 99.13 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.08 | gold quality |
| oral cavity | UBERON:0000167 | 99.02 | gold quality |
| urethra | UBERON:0000057 | 98.85 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.73 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.65 | gold quality |
| rectum | UBERON:0001052 | 98.59 | gold quality |
| right lung | UBERON:0002167 | 98.50 | gold quality |
| trachea | UBERON:0003126 | 98.37 | gold quality |
| cervix epithelium | UBERON:0004801 | 98.05 | gold quality |
| body of tongue | UBERON:0011876 | 98.05 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.03 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.93 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.79 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.74 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.60 | gold quality |
| visceral pleura | UBERON:0002401 | 97.48 | gold quality |
| gall bladder | UBERON:0002110 | 97.38 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.33 | gold quality |
| bone marrow | UBERON:0002371 | 97.28 | gold quality |
| tongue | UBERON:0001723 | 97.14 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.01 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.00 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.76 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.47 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.26 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.94 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.68 | gold quality |
| lung | UBERON:0002048 | 95.55 | gold quality |
| duodenum | UBERON:0002114 | 95.48 | gold quality |
| superior surface of tongue | UBERON:0007371 | 95.01 | gold quality |
| adult organism | UBERON:0007023 | 94.66 | gold quality |
| bone marrow cell | CL:0002092 | 94.52 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 94.28 | gold quality |
| amniotic fluid | UBERON:0000173 | 93.64 | gold quality |
| gingiva | UBERON:0001828 | 92.97 | gold quality |
| parotid gland | UBERON:0001831 | 91.81 | gold quality |
| sperm | CL:0000019 | 91.26 | gold quality |
| tonsil | UBERON:0002372 | 91.15 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.07 | gold quality |
| upper leg skin | UBERON:0004262 | 90.20 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.11 | gold quality |
| male germ cell | CL:0000015 | 89.93 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.01 | gold quality |
| caecum | UBERON:0001153 | 87.28 | gold quality |
| transverse colon | UBERON:0001157 | 87.02 | gold quality |
| vagina | UBERON:0000996 | 86.70 | gold quality |
| skin of hip | UBERON:0001554 | 85.72 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.66 | gold quality |
| upper arm skin | UBERON:0004263 | 85.52 | gold quality |
| jejunum | UBERON:0002115 | 85.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.74 | gold quality |
| periodontal ligament | UBERON:0008266 | 82.18 | gold quality |
| pancreas | UBERON:0001264 | 81.55 | gold quality |
| oviduct epithelium | UBERON:0004804 | 81.13 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 79.50 | gold quality |
| large intestine | UBERON:0000059 | 79.36 | gold quality |
| diaphragm | UBERON:0001103 | 78.81 | gold quality |
| intestine | UBERON:0000160 | 78.73 | gold quality |
| type B pancreatic cell | CL:0000169 | 78.57 | silver quality |
| colon | UBERON:0001155 | 78.49 | gold quality |
| olfactory bulb | UBERON:0002264 | 78.02 | gold quality |
| monocyte | CL:0000576 | 77.46 | gold quality |
| mononuclear cell | CL:0000842 | 77.08 | gold quality |
| small intestine | UBERON:0002108 | 76.73 | gold quality |
| endometrium epithelium | UBERON:0004811 | 76.15 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.85 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 75.81 | gold quality |
| mammary duct | UBERON:0001765 | 75.53 | gold quality |
| leukocyte | CL:0000738 | 75.48 | gold quality |
| zone of skin | UBERON:0000014 | 75.23 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 75.18 | gold quality |
| uterine cervix | UBERON:0000002 | 74.98 | gold quality |
| skin of leg | UBERON:0001511 | 74.36 | gold quality |
| esophagus | UBERON:0001043 | 74.12 | gold quality |
| blood | UBERON:0000178 | 73.62 | gold quality |
| colonic epithelium | UBERON:0000397 | 73.51 | gold quality |
| vastus lateralis | UBERON:0001379 | 73.46 | gold quality |
| body of pancreas | UBERON:0001150 | 73.42 | gold quality |
| fallopian tube | UBERON:0003889 | 73.32 | gold quality |
| penis | UBERON:0000989 | 73.00 | gold quality |
| quadriceps femoris | UBERON:0001377 | 72.89 | gold quality |
| hair follicle | UBERON:0002073 | 72.84 | gold quality |
| gluteal muscle | UBERON:0002000 | 71.76 | gold quality |
| skin of abdomen | UBERON:0001416 | 71.65 | gold quality |
| triceps brachii | UBERON:0001509 | 71.36 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | yes | 6918.00 |
| E-MTAB-9801 | yes | 2639.35 |
| E-HCAD-15 | yes | 1916.79 |
| E-MTAB-8530 | yes | 1894.19 |
| E-MTAB-6653 | yes | 1209.55 |
| E-MTAB-8410 | yes | 1037.31 |
| E-CURD-114 | yes | 434.35 |
| E-GEOD-125970 | yes | 26.83 |
| E-HCAD-1 | yes | 22.52 |
| E-GEOD-130148 | yes | 10.38 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Tissue enhanced
59 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Lung | tissue | 270.1 | medium |
| Rectum | tissue | 206.9 | medium |
| Colon | tissue | 183.1 | medium |
| Bone marrow | tissue | 171.4 | low |
| Esophagus | tissue | 154.2 | not detected |
| Gallbladder | tissue | 122.2 | low |
| Vagina | tissue | 83.1 | not detected |
| Salivary gland | tissue | 42.5 | not detected |
| Duodenum | tissue | 31.1 | not detected |
| Tonsil | tissue | 30.5 | low |
| Appendix | tissue | 28.0 | high |
| Small intestine | tissue | 23.0 | not detected |
| Stomach 1 | tissue | 14.7 | low |
| Urinary bladder | tissue | 9.0 | not detected |
| Fallopian tube | tissue | 7.8 | not detected |
| Smooth muscle | tissue | 6.2 | not detected |
| Cervix | tissue | 4.9 | not detected |
| Basal ganglia | tissue | 4.6 | not detected |
| Putamen | tissue | 4.6 | |
| Cerebellum | tissue | 3.3 | not detected |
| Skin 1 | tissue | 3.2 | not detected |
| Cerebral cortex | tissue | 3.1 | not detected |
| Nucleus accumbens | tissue | 3.1 | |
| Pancreas | tissue | 2.9 | not detected |
| Medulla oblongata | tissue | 2.7 | |
| Amygdala | tissue | 2.6 | |
| Breast | tissue | 2.5 | not detected |
| Pons | tissue | 2.5 | |
| Occipital cortex | tissue | 2.5 | |
| Thalamus | tissue | 2.4 | |
| Hippocampal formation | tissue | 2.4 | |
| Midbrain | tissue | 2.3 | |
| Prostate | tissue | 2.3 | not detected |
| Hypothalamus | tissue | 2.2 | |
| Retrosplenial cortex | tissue | 2.2 | |
| Hippocampus | tissue | 2.1 | not detected |
| Thymus | tissue | 2.0 | |
| Adipose tissue | tissue | 1.9 | not detected |
| Postcentral gyrus | tissue | 1.9 | |
| Choroid plexus | tissue | 1.8 | |
| Spinal cord | tissue | 1.8 | |
| Epididymis | tissue | 1.7 | not detected |
| Locus coeruleus | tissue | 1.7 | |
| Substantia nigra | tissue | 1.4 | |
| Seminal vesicle | tissue | 1.3 | not detected |
| Spleen | tissue | 0.7 | low |
| Liver | tissue | 0.7 | not detected |
| Endometrium 1 | tissue | 0.5 | not detected |
| Placenta | tissue | 0.5 | not detected |
| Testis | tissue | 0.4 | not detected |
| Adrenal gland | tissue | 0.4 | not detected |
| Lymph node | tissue | 0.3 | low |
| Kidney | tissue | 0.3 | not detected |
| Pituitary gland | tissue | 0.2 | |
| Thyroid gland | tissue | 0.2 | not detected |
| Heart muscle | tissue | 0.1 | not detected |
| Parathyroid gland | tissue | 0.1 | not detected |
| Nasopharynx | tissue | -1.0 | low |
| Bronchus | tissue | -1.0 | low |
Brain sub-regions (HPA Brain Atlas): detected in 186; highest nTPM — Flocculonodular lobe (3.3), Nucleus basalis of Meynert (3.2), Postcentral gyrus, ventral (3.1), Caudate nucleus (3.0), Posterior cingulate cortex (3.0).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1, GLI2, TCF7
miRNA regulators (miRDB)
Targeting CEACAM6 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 76 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
Functional genomics
gnomAD constraint: pLI 9.39e-05, LOEUF 0.908, missense Z 0.863 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000199764 — one region, missense o/e 0.94.
Literature-anchored findings (GeneRIF, showing 40)
- Overexpression of CEACAM6 disrupts tissue architecture and blocks colonocyte differentiation (PMID:11896570)
- CEACAM6 subdomains involved in intercellular adhesion activity and subdomains involved in inhibition of cell differentation are identified and their respective activities are independently blocked. (PMID:12571231)
- the first study to demonstrate the prognostic relevance of CEACAM6 overexpression in human colorectal cancer (PMID:14512395)
- overexpression among human malignancies, immunological targeting of this tumor antigen may have therapeutic applicability (PMID:15081416)
- the results show that recognition of CEA and CEACAM6, but not CEACAM1, is accompanied by tight attachment to bacteria of cell surface microvilli-like extensions (PMID:15130118)
- CEACAM6 is an important determinant of pancreatic adenocarcinoma malignant cellular behavior (PMID:15208677)
- Levels of CEACAM6 expression can modulate pancreatic adenocarcinoma cellular invasiveness in a c-Src-dependent manner (PMID:15316565)
- CD66c is regulated in a manner distinct from other myeloid antigens in childhood lymphoblastic leukemia (PMID:15826304)
- Data show that variants of Neisseria gonorrhoeae that bind to human carcinoembryonic antigen-related cell adhesion molecules (CEACAMs) 1 and 6 failed to induce detachment and, instead, promoted enhanced host cell adhesion to the ECM. (PMID:16115956)
- The expression of CEACAM6 in ADH lesions is strongly associated with the development of IBC, therefore, it can be applied as a diagnostic marker either singly or in combination with other marker(s) to predict IBC development in women with ADH lesions. (PMID:16899629)
- CEA and CEACAM6 was shown to lead to an increase in the binding of the integrin alpha5beta1 receptor to its ligand fibronectin, without changing its cell surface levels, resulting in increased adhesion of CEA/CEACAM6-expressing cells to fibronectin. (PMID:17167768)
- For all tumors, the amount of CEACAM6 expressed was greater than that of CEACAM5, and reflected tumor histotype. (PMID:17201906)
- CEA-mediated signaling involves clustering of CEA and co-clustering and activation of the alpha5beta1 and associated specific signaling elements on the internal surfaces of membrane microdomains (PMID:17286276)
- CEACAM6 is a biological tumor marker for epithelial ovarian cancers. (PMID:17503391)
- CEACAM6 acts as a receptor for adherent-invasive E. coli adhesion and is abnormally expressed by ileal epithelial cells in Crohn disease. (PMID:17525800)
- findings suggest that CEA (CEACAM5) and CEACAM6 are major target genes for Smad3-mediated TGF-beta signaling. (PMID:17653079)
- All the leukemic samples showed overexpression of CEACAM6 and 8 when compared with normal granulocytes. (PMID:17909799)
- data support an important role for CEACAM6 in endocrine resistance in breast cancer, which can serve as a powerful predictor of future recurrence (PMID:18223215)
- CEACAM6 is overexpressed in borderline and invasive mucinous ovarian neoplasms. (PMID:18331757)
- Data show that desensitization of neutrophils to any two CEACAMs, 1, 3, 6, or 8, results in selective desensitization to those two CEACAMs, while the cells remain responsive to the other two neutrophil CEACAMs. (PMID:19077207)
- Because CEACAM6 acts as an antiapoptotic factor and stabilizes surfactant function, in addition to a putative role in innate defense against bacteria, we propose that it is a multifunctional alveolar protein (PMID:19329538)
- CEACAM6-associated signaling pathways could be potential targets for the development of biomarkers to predict the response of patients to adenovirus-based therapies, as well as for the development of more potent adenovirus-based therapeutics (PMID:19411761)
- CEACAM6 and a regulatory element near the 3’ end of CEACAM3 are associated with cystic fibrosis disease severity and intrapair discordance (PMID:20047061)
- Positivity for both leukemia-associated antigens CD66c and CD25 in combination can predict the presence of BCR/ABL rearrangement in pre-B cell acute lymphoblastic leukemia (PMID:20063526)
- The highly elevated gene expression of CEACAM6 and CEACAM8 in primary myelofibrosis can serve as molecular markers of myelofibrotic transformation. (PMID:21470677)
- Despite its important role in bacterial attachment in ileal CD, no role was detected for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype (PMID:21559399)
- High serum CEACAM6 is associated with gastric cancer. (PMID:21618249)
- High CEACAM6 expresssion is associated with inflammatory bowel disease. (PMID:21994005)
- CEACAM6 is expressed by alveolar and airway epithelial cells of human lung and is secreted into lung-lining fluid, where fully glycosylated protein binds to surfactant. (PMID:22037359)
- The authors show that the expression of CEACAM1 and CEACAM6 potentiate CEACAM3-dependent responses of neutrophils, exposing a cooperative role for this family of proteins during neisserial infection of neutrophils. (PMID:22064717)
- a novel role for NA in enhancing host cell survival by activating the Src/Akt signaling axis via an interaction with carcinoembryonic antigen-related cell adhesion molecule 6/cluster of differentiation 66c (C6). (PMID:22396546)
- CEACAM6 is significantly upregulated in colon cancer tissues and is closely associated with poor prognosis. (PMID:22975528)
- CEACAM6 is focally overexpressed in a large fraction of human HNSCCs in situ. over-expression of CEACAM6 increases tumour growth and tumour initiating activity by suppressing PI3K/AKT-dependent apoptosis of HNSCC in a xenotransplant model of HNSCC. (PMID:23021083)
- The expression of CD66c was significantly higher in colorectal cancer specimens than in normal colon. (PMID:23027178)
- these findings show that PDEF-CEACAM6 is a highly active oncogenic axis in breast cancer (PMID:23592399)
- CEACAM-6 plays an important role in the regulation of CD8+ T-cell responses against multiple myeloma. (PMID:23603913)
- High carcinoembryonic cell adhesion molecule 6 expression is associated with malignant biliary stenoses. (PMID:23806607)
- our findings identified CEACAM6, which is regulated by miR-29a/b/c, as an important positive regulator of EMT in pancreatic cancer (PMID:23857344)
- CD66c expression appears useful only as a predictor of the Ph in adult patients (not in pediatric cases). (PMID:24014076)
- CEACAM6 expression was expressed in different molecular subtypes of breast cancer. Among different subtypes, the highest expression was found with HER2 positive cancers. (PMID:24186057)
Cross-species orthologs
36 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Psg18 | ENSMUSG00000003505 |
| mus_musculus | Psg17 | ENSMUSG00000004540 |
| mus_musculus | Psg19 | ENSMUSG00000004542 |
| mus_musculus | Ceacam5 | ENSMUSG00000008789 |
| mus_musculus | Psg29 | ENSMUSG00000023159 |
| mus_musculus | Ceacam14 | ENSMUSG00000023185 |
| mus_musculus | Ceacam12 | ENSMUSG00000030366 |
| mus_musculus | Ceacam11 | ENSMUSG00000030368 |
| mus_musculus | Psg28 | ENSMUSG00000030373 |
| mus_musculus | Psg22 | ENSMUSG00000044903 |
| mus_musculus | Ceacam3 | ENSMUSG00000053228 |
| mus_musculus | Ceacam10 | ENSMUSG00000054169 |
| mus_musculus | Ceacam2 | ENSMUSG00000054385 |
| mus_musculus | Ceacam13 | ENSMUSG00000057195 |
| mus_musculus | Psg20 | ENSMUSG00000063305 |
| mus_musculus | Psg16 | ENSMUSG00000066760 |
| mus_musculus | Psg21 | ENSMUSG00000070796 |
| mus_musculus | Psg27 | ENSMUSG00000070797 |
| mus_musculus | Psg25 | ENSMUSG00000070798 |
| mus_musculus | Psg26 | ENSMUSG00000070799 |
| mus_musculus | Ceacam1 | ENSMUSG00000074272 |
| mus_musculus | Psg23 | ENSMUSG00000074359 |
| mus_musculus | Ceacam23 | ENSMUSG00000078793 |
| rattus_norvegicus | LOC102557244 | ENSRNOG00000017519 |
| rattus_norvegicus | Ceacam11 | ENSRNOG00000017620 |
| rattus_norvegicus | Ceacam1 | ENSRNOG00000020578 |
| rattus_norvegicus | Psgb1 | ENSRNOG00000027288 |
| rattus_norvegicus | Ceacam3 | ENSRNOG00000027607 |
| rattus_norvegicus | Psg29 | ENSRNOG00000029485 |
| rattus_norvegicus | LOC120098290 | ENSRNOG00000034000 |
| rattus_norvegicus | Psg19 | ENSRNOG00000038101 |
| rattus_norvegicus | Ceacam12 | ENSRNOG00000042158 |
| rattus_norvegicus | Ceacam4 | ENSRNOG00000046222 |
| rattus_norvegicus | Psg16 | ENSRNOG00000062379 |
| rattus_norvegicus | Cgm4 | ENSRNOG00000062787 |
| rattus_norvegicus | LOC102557319 | ENSRNOG00000071114 |
Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1347251) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 51 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| increased circulating insulin level | 2 |
| decreased mean corpuscular hemoglobin concentration | 2 |
| decreased susceptibility to Coronaviridae infection | 2 |
| increased leukocyte cell number | 1 |
| abnormal colon morphology | 1 |
| obese | 1 |
| polyphagia | 1 |
| increased circulating HDL cholesterol level | 1 |
| decreased litter size | 1 |
| abnormal coat/hair pigmentation | 1 |
| abnormal glucose homeostasis | 1 |
| decreased susceptibility to viral infection | 1 |
| abnormal T cell physiology | 1 |
| increased mean platelet volume | 1 |
| decreased circulating triglyceride level | 1 |
| abnormal cytokine secretion | 1 |
| decreased circulating chloride level | 1 |
| increased insulin secretion | 1 |
| increased lean body mass | 1 |
| increased incidence of tumors by chemical induction | 1 |
| abnormal vascular wound healing | 1 |
| decreased energy expenditure | 1 |
| decreased T cell number | 1 |
| decreased T cell proliferation | 1 |
| decreased circulating cholesterol level | 1 |
+26 more (showing top 25).
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Pongo pygmaeus | Q9N1E3 | 92.5% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| CEACAM5 | protein-coding | 1048 |
| CEACAM3 | protein-coding | 1084 |
| LYPD4 | protein-coding | 147719 |
| CEACAM7 | protein-coding | 1087 |
| DMRTC2 | protein-coding | 63946 |
Protein
Protein identifiers
Cell adhesion molecule CEACAM6 — P40199 (reviewed: P40199)
Alternative names: Carcinoembryonic antigen-related cell adhesion molecule 6, Non-specific crossreacting antigen, Normal cross-reacting antigen
All UniProt accessions (2): P40199, M0QYD3
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface glycoprotein that plays a role in cell adhesion and tumor progression. Intercellular adhesion occurs in a calcium- and fibronectin-independent manner. Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8. Heterophilic interaction with CEACAM8 occurs in activated neutrophils. Plays a role in neutrophil adhesion to cytokine-activated endothelial cells. Plays a role in cell migration and cell adhesion to endothelial cells.
Subunit / interactions. Homodimer; homodimerizes via its Ig-like V-type domain. Heterodimer with CEACAM8; heterodimerizes via its Ig-like V-type domain.
Subcellular location. Cell membrane. Apical cell membrane. Cell surface.
Tissue specificity. Expressed in neutrophils. Expressed in columnar epithelial and goblet cells of the colon. Expressed in numerous tumor cell lines (at protein level).
Post-translational modifications. Glycosylated.
Domain organisation. The extracellular N-terminus Ig-like V-type domain is necessary for homophilic and heterophilic intercellular adhesion.
Similarity. Belongs to the immunoglobulin superfamily. CEA family.
RefSeq proteins (1): NP_002474* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050831 | CEA_cell_adhesion | Family |
Pfam: PF07686, PF13895, PF13927
UniProt features (45 total): glycosylation site 12, mutagenesis site 10, strand 9, domain 3, disulfide bond 2, helix 2, signal peptide 1, chain 1, propeptide 1, sequence variant 1, sequence conflict 1, turn 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
6 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 4Y8A | Crystal Structure of the N-terminal domain of CEACAM6 | X-RAY DIFFRACTION | 1.83 |
| 4YIQ | Structure of the CEACAM6-CEACAM8 heterodimer | X-RAY DIFFRACTION | 1.85 |
| 4WTZ | Human CEACAM6-CEACAM8 N-domain heterodimer complex | X-RAY DIFFRACTION | 2.52 |
| 4WHC | Human CEACAM6 N-domain | X-RAY DIFFRACTION | 2.71 |
| 9RCU | Cardioderma bat coronavirus 2B receptor binding domain in complex with human CEACAM6 | X-RAY DIFFRACTION | 2.99 |
| 9RCS | Cardioderma bat coronavirus KY43 receptor binding domain in complex with human CEACAM6 | X-RAY DIFFRACTION | 3.01 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P40199-F1 | 88.52 | 0.83 |
Human Protein Atlas
Protein class: CD markers, Predicted membrane proteins, Predicted intracellular proteins, Cancer-related genes, Candidate cancer biomarkers
Protein evidence: Evidence at protein level
Antibody reliability (HPA): IH enhanced
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1)
| Type | Positions |
|---|---|
| Gpi-anchor amidated glycine | 320 |
Disulfide bonds (2)
| Type | Positions |
|---|---|
| Disulfide bond | 167–215, 259–299 |
Glycosylation sites (12)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 152, 173, 197, 224, 256, 274, 288, 292, 309, 104, 111, 115 |
Mutagenesis-validated functional residues (10)
| Position | Phenotype |
|---|---|
| 38 | loss of homodimerization and heterodimerization with ceacam8. |
| 53 | no effect on homodimerization. reduces heterodimerization with ceacam8. |
| 55 | no effect on homophilic and heterophilic cell adhesion. |
| 61 | inhibits homophilic and heterophilic cell adhesion. |
| 62 | no effect on homophilic cell adhesion. reduces heterophilic cell adhesion. |
| 63 | no effect on homophilic cell adhesion. inhibits heterophilic cell adhesion. |
| 66 | inhibits homophilic cell adhesion. reduces heterophilic cell adhesion. |
| 78 | inhibits homophilic cell adhesion. no effect on heterophilic cell adhesion. |
| 123 | no effect on homodimerization. reduces heterodimerization with ceacam8. |
| 129 | reduces homodimerization. loss of heterodimerization with ceacam8. |
Function
Pathways and Gene Ontology
Reactome pathways
3 curated (TAS) of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
7 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-202733 | Cell surface interactions at the vascular wall | curated |
| R-HSA-1566977 | Fibronectin matrix formation | curated |
| R-HSA-6798695 | Neutrophil degranulation | curated |
| R-HSA-1474244 | Extracellular matrix organization | — |
| R-HSA-109582 | Hemostasis | — |
| R-HSA-168256 | Immune System | — |
| R-HSA-168249 | Innate Immune System | — |
MSigDB gene sets: 282 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_92, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_HETEROTYPIC_CELL_CELL_ADHESION, GOZGIT_ESR1_TARGETS_DN, GOCC_CELL_SURFACE, CROONQUIST_NRAS_SIGNALING_UP, ONDER_CDH1_TARGETS_3_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION
GO Biological Process (9): apoptotic process (GO:0006915), homophilic cell-cell adhesion (GO:0007156), heterophilic cell-cell adhesion (GO:0007157), positive regulation of cell population proliferation (GO:0008284), positive regulation of cell migration (GO:0030335), positive regulation of heterotypic cell-cell adhesion (GO:0034116), positive regulation of endothelial cell-matrix adhesion (GO:1904906), negative regulation of anoikis (GO:2000811), cell adhesion (GO:0007155)
GO Molecular Function (3): identical protein binding (GO:0042802), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), apical plasma membrane (GO:0016324), azurophil granule membrane (GO:0035577), side of membrane (GO:0098552)
Reactome top-level categories
4 top-level categories:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
| Hemostasis | 1 |
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
32 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell-cell adhesion | 2 |
| membrane | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| positive regulation of cell-cell adhesion | 1 |
| heterotypic cell-cell adhesion | 1 |
| regulation of heterotypic cell-cell adhesion | 1 |
| positive regulation of cell-matrix adhesion | 1 |
| endothelial cell-matrix adhesion | 1 |
| regulation of endothelial cell-matrix adhesion | 1 |
| negative regulation of apoptotic process | 1 |
| anoikis | 1 |
| regulation of anoikis | 1 |
| cellular process | 1 |
| protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| lysosomal membrane | 1 |
| secretory granule membrane | 1 |
| azurophil granule | 1 |
| leaflet of membrane bilayer | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 12 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).
12 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| heterophilic cell-cell adhesion | BP | mutant phenotype |
| homophilic cell-cell adhesion | BP | mutant phenotype |
| negative regulation of anoikis | BP | mutant phenotype |
| positive regulation of cell migration | BP | mutant phenotype |
| positive regulation of cell population proliferation | BP | mutant phenotype |
| positive regulation of endothelial cell-matrix adhesion | BP | mutant phenotype |
| positive regulation of heterotypic cell-cell adhesion | BP | mutant phenotype |
| apical plasma membrane | CC | direct assay |
| cell surface | CC | direct assay |
| membrane | CC | direct assay |
| identical protein binding | MF | direct assay |
| protein heterodimerization activity | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,392 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEACAM6 | A1BG | P04217 | 547 |
| CEACAM6 | MUC4 | Q99102 | 537 |
| CEACAM6 | TACSTD2 | P09758 | 513 |
| CEACAM6 | MUC5B | Q9HC84 | 499 |
| CEACAM6 | MUC5AC | P98088 | 498 |
| CEACAM6 | MUC13 | Q9H3R2 | 487 |
| CEACAM6 | MUC17 | Q685J3 | 464 |
| CEACAM6 | CYTH4 | Q9UIA0 | 463 |
| CEACAM6 | DEFA4 | P12838 | 450 |
| CEACAM6 | MUC2 | Q02817 | 449 |
| CEACAM6 | MUC20 | Q8N307 | 430 |
| CEACAM6 | DEFA5 | Q01523 | 412 |
| CEACAM6 | DEFA6 | Q01524 | 412 |
| CEACAM6 | ERV3-1 | Q14264 | 410 |
| CEACAM6 | ERVFRD-1 | P60508 | 409 |
IntAct
Human interaction partners of CEACAM6 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
showing 30 of 31 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| CEACAM8 | direct interaction | 0.820 | 8 |
| CEACAM1 | physical association | 0.610 | 3 |
| MSS51 | physical association | 0.560 | 5 |
| UBQLN2 | physical association | 0.560 | 5 |
| ASPG | physical association | 0.560 | 3 |
| CIB1 | physical association | 0.560 | 3 |
| CSTF2 | physical association | 0.560 | 3 |
| EXOC3L1 | physical association | 0.560 | 3 |
| FOXH1 | physical association | 0.560 | 3 |
| GCM2 | physical association | 0.560 | 3 |
| GPANK1 | physical association | 0.560 | 3 |
| HGS | physical association | 0.560 | 3 |
| HPCAL4 | physical association | 0.560 | 3 |
| KANK2 | physical association | 0.560 | 3 |
| MYOZ1 | physical association | 0.560 | 3 |
| PITX1 | physical association | 0.560 | 3 |
| POM121 | physical association | 0.560 | 3 |
| QRICH1 | physical association | 0.560 | 3 |
| RHOXF2 | physical association | 0.560 | 3 |
| SHC3 | physical association | 0.560 | 3 |
| SMARCD1 | physical association | 0.560 | 3 |
| TLX3 | physical association | 0.560 | 3 |
| TNXB | physical association | 0.560 | 3 |
| VENTX | physical association | 0.560 | 3 |
| VEZF1 | physical association | 0.560 | 3 |
| WWOX | physical association | 0.560 | 3 |
| ZMYND19 | physical association | 0.560 | 3 |
| ZNF76 | physical association | 0.560 | 3 |
| CARTPT | physical association | 0.540 | 3 |
| CEACAM5 | physical association | 0.400 | 1 |
BioGRID (269 interactions; top human partners by supporting records): ITGA2 (Proximity Label-MS; 3 records), ITGB1 (Proximity Label-MS; 3 records), PRKCD (Proximity Label-MS; 3 records), CEACAM1 (Reconstituted Complex; 2 records), ABHD12 (Proximity Label-MS), ACACA (Proximity Label-MS), ACBD5 (Proximity Label-MS), ACSL4 (Proximity Label-MS), AGPAT6 (Proximity Label-MS), AGPAT9 (Proximity Label-MS), ALDH3A2 (Proximity Label-MS), ALG9 (Proximity Label-MS), ANKLE2 (Proximity Label-MS), ANO10 (Proximity Label-MS), ANO6 (Proximity Label-MS)
Ligand–receptor pairs (CellPhoneDB) (4)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
4 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| CEACAM6 | ligand | Adhesion by CEAM |
| CEACAM5 | receptor | Adhesion by CEAM |
| CEACAM8 | receptor | Adhesion by CEAM |
| CEACAM1 | receptor | Adhesion by CEAM |
Disease & clinical
Genetic variants
Variant evidence for CEACAM6: 53 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 7 |
| Benign | 2 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 312):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:41755703 | donor_loss | 1.0000 | |
| 19:41755703–41755704 | donor_loss | 0.9900 | 3 |
| 19:41756598–41756599 | acceptor_loss | 0.9900 | 6 |
| 19:41761246 | acceptor_gain | 0.9900 | |
| 19:41761247–41761248 | acceptor_loss | 0.9900 | 6 |
| 19:41761528–41761529 | donor_loss | 0.9900 | 5 |
| 19:41769664 | donor_gain | 0.9900 | |
| 19:41755704 | donor_loss | 0.9800 | |
| 19:41756960–41756961 | donor_loss | 0.9800 | 5 |
| 19:41756964 | donor_loss | 0.9800 | 2 |
AlphaMissense
207 missense substitutions predicted likely pathogenic (of 2,224 scored), across 74 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| W67 | 7 | 0.861 | 0.956 |
| C299 | 7 | 0.849 | 0.942 |
| C259 | 7 | 0.848 | 0.913 |
| C215 | 7 | 0.845 | 0.941 |
| W271 | 7 | 0.838 | 0.939 |
| C167 | 7 | 0.828 | 0.884 |
| W178 | 6 | 0.853 | 0.935 |
| S226 | 6 | 0.809 | 0.941 |
| D116 | 6 | 0.640 | 0.678 |
| N303 | 5 | 0.735 | 0.895 |
| G92 | 5 | 0.727 | 0.766 |
| F138 | 5 | 0.726 | 0.796 |
| Y297 | 5 | 0.717 | 0.898 |
| G236 | 4 | 0.751 | 0.815 |
| S263 | 4 | 0.750 | 0.824 |
| Y120 | 4 | 0.749 | 0.906 |
| Y213 | 4 | 0.721 | 0.873 |
| Y269 | 4 | 0.681 | 0.754 |
| G118 | 4 | 0.589 | 0.619 |
| L107 | 3 | 0.827 | 0.939 |
HPA cancer prognostics
RNA cancer specificity: Cancer enhanced (Lung Adenocarcinoma, Rectum Adenocarcinoma)
Disease associations
OMIM: gene MIM:163980 | disease phenotypes:
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| cystic fibrosis | Supportive | Autosomal recessive |
Mondo (1): cystic fibrosis (MONDO:0009061)
HPO phenotypes
35 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000246 | Sinusitis |
| HP:0000365 | Hearing impairment |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0000787 | Kidney stone |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| HP:0001392 | Abnormality of the liver |
| HP:0001394 | Cirrhosis |
| HP:0001508 | Failure to thrive |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002024 | Malabsorption |
| HP:0002035 | Rectal prolapse |
| HP:0002099 | Asthma |
| HP:0002105 | Hemoptysis |
| HP:0002107 | Pneumothorax |
| HP:0002110 | Bronchiectasis |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002570 | Steatorrhea |
| HP:0002724 | Recurrent Aspergillus infection |
| HP:0002726 | Recurrent Staphylococcus aureus infection |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0002842 | Recurrent Burkholderia cepacia infection |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003251 | Male infertility |
| HP:0004401 | Meconium ileus |
| HP:0005376 | Recurrent Haemophilus influenzae infection |
| HP:0006536 | Airway obstruction |
| HP:0012236 | Elevated sweat chloride |
| HP:0012873 | Absent vas deferens |
| HP:0032261 | Nontuberculous mycobacterial pulmonary infection |
| HP:0032342 | Reduced forced expiratory volume in one second |
| HP:0045082 | Decreased body mass index |
| HP:0100582 | Nasal polyposis |
GWAS associations
1 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST009650_9 | Serum carcinoembryonic antigen levels | 5e-10 |
EFO canonical traits (from GWAS)
1 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0005760 | serum carcinoembryonic antigen measurement |
MeSH disease descriptors
1 disease descriptors:
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003550 | Cystic Fibrosis | C06.689.202; C08.381.187; C16.320.190; C16.614.213 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects cotreatment, affects expression, increases expression, increases methylation | 3 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 3 |
| Calcitriol | increases expression | 2 |
| Lipopolysaccharides | affects expression, affects response to substance, affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 2 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| pyrazolo(3,4-d)pyrimidine | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| zinc chloride | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrathiomolybdate | decreases expression | 1 |
| tanshinone | decreases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| 1-methylphenanthrene | affects expression, affects cotreatment | 1 |
| dibenzo(a,l)pyrene | affects cotreatment, affects expression | 1 |
| tamibarotene | increases expression, increases reaction, decreases expression, decreases reaction | 1 |
| indolo(3,2-b)carbazole | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| azaspiracid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| Chir 99021 | affects cotreatment, increases expression, affects binding | 1 |
| clothianidin | increases expression | 1 |
| abrine | decreases expression | 1 |
| XAV939 | affects binding, affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 transformed cell line, 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C0EK | HEK293-CEACAM6-Fc | Transformed cell line | Female |
| CVCL_E6PX | Genomeditech CHO-K1 H_CEACAM6(CD66c) | Spontaneously immortalized cell line | Female |
| CVCL_E6TL | Genomeditech HEK-293 H_CEACAM6(CD66c) | Transformed cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 300 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00157690 | Phase 4 | COMPLETED | Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients |
| NCT00208078 | Phase 4 | TERMINATED | Effect of Non-Invasive Ventilation in Cystic Fibrosis Patient With Chronic Respiratory Failure. |
| NCT00244270 | Phase 4 | COMPLETED | Cystic Fibrosis and Totally Implantable Vascular Access Devices |
| NCT00333385 | Phase 4 | TERMINATED | Continuous Versus Short Infusions of Ceftazidime in Cystic Fibrosis |
| NCT00411736 | Phase 4 | COMPLETED | Scandinavian Cystic Fibrosis Azithromycin Study |
| NCT00418470 | Phase 4 | TERMINATED | Prolonging the Duration of Peripheral Venous Catheters in Cystic Fibrosis People |
| NCT00431964 | Phase 4 | COMPLETED | Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa |
| NCT00434278 | Phase 4 | TERMINATED | A Trial of Pulmozyme Withdrawal on Exercise Tolerance in Cystic Fibrosis Subjects With Severe Lung Disease (TOPIC) |
| NCT00483769 | Phase 4 | COMPLETED | One Year Glargine Treatment in CFRD Children and Adolescents |
| NCT00528190 | Phase 4 | COMPLETED | Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis |
| NCT00557089 | Phase 4 | COMPLETED | The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis |
| NCT00572975 | Phase 4 | COMPLETED | Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea |
| NCT00680316 | Phase 4 | TERMINATED | A Study of Pulmozyme® (Dornase Alpha) in 3- to 5-Year-Old Patients With Cystic Fibrosis |
| NCT00685035 | Phase 4 | COMPLETED | Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings |
| NCT00744250 | Phase 4 | TERMINATED | Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control |
| NCT00787917 | Phase 4 | TERMINATED | An Exploratory Study to Assess Multiple Doses of Omalizumab in Patients With Cystic Fibrosis Complicated by Acute Bronchopulmonary Aspergillosis (ABPA) |
| NCT00843817 | Phase 4 | COMPLETED | RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum |
| NCT00890370 | Phase 4 | COMPLETED | Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? |
| NCT00996424 | Phase 4 | TERMINATED | The Effect of Inhaled N-Acetylcysteine Compared to Normal Saline on Sputum Rheology and Lung Function |
| NCT01044719 | Phase 4 | UNKNOWN | Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis |
| NCT01100606 | Phase 4 | COMPLETED | A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age |
| NCT01131507 | Phase 4 | COMPLETED | PR-018: An Open-Label, Safety Extension of Study PR-011 |
| NCT01207245 | Phase 4 | COMPLETED | Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis |
| NCT01323101 | Phase 4 | COMPLETED | Doxycycline Effects on Inflammation in Cystic Fibrosis |
| NCT01327703 | Phase 4 | COMPLETED | Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency |
| NCT01377792 | Phase 4 | COMPLETED | Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis |
| NCT01400750 | Phase 4 | COMPLETED | Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis |
| NCT01429259 | Phase 4 | COMPLETED | Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children |
| NCT01608555 | Phase 4 | COMPLETED | Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis |
| NCT01667094 | Phase 4 | UNKNOWN | A Study Comparing Continuous Infusion Antibiotics to Standard Treatment for Lung Infections in Cystic Fibrosis |
| NCT01694069 | Phase 4 | TERMINATED | Continuous Infusion Piperacillin-tazobactam for the Treatment of Cystic Fibrosis |
| NCT01702415 | Phase 4 | WITHDRAWN | Zoledronic Acid in Cystic Fibrosis |
| NCT01712334 | Phase 4 | COMPLETED | A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis |
| NCT01737983 | Phase 4 | COMPLETED | Effect of Lactobacillus Reuteri in Cystic Fibrosis |
| NCT01844778 | Phase 4 | COMPLETED | Ease of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI) |
| NCT01880346 | Phase 4 | COMPLETED | Comparison of Absorption of Vitamin D in Cystic Fibrosis |
| NCT01882400 | Phase 4 | COMPLETED | Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy |
| NCT01937325 | Phase 4 | UNKNOWN | CPET in CF Patients With One G551D Mutation Taking VX770 |
| NCT02015663 | Phase 4 | TERMINATED | Tobramycin Inhalation Powder (TIP) Administered Once Daily Continuously Versus TIP Administered BID in 28 Day on / 28 Day Off Cycles |
| NCT02048592 | Phase 4 | UNKNOWN | Impact of Immunonutrition on the Patients With Cystic Fibrosis |
| NCT02178540 | Phase 4 | COMPLETED | Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients |
| NCT02277626 | Phase 4 | COMPLETED | Electro Flo 5000 and Vest Therapy |
| NCT02421120 | Phase 4 | COMPLETED | Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients |
| NCT02444234 | Phase 4 | COMPLETED | Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis |
| NCT02504827 | Phase 4 | COMPLETED | Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis |
| NCT02547116 | Phase 4 | WITHDRAWN | Epidemiology and Treatment of Small-colony Variant Staphylococcus Aureus in Cystic Fibrosis |
| NCT02677701 | Phase 4 | COMPLETED | Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With Cystic Fibrosis (CF) |
| NCT02700282 | Phase 4 | COMPLETED | Backpack Carrying in Children With Cystic Fibrosis |
| NCT02823470 | Phase 4 | TERMINATED | A Pilot Study to Evaluate the Use of Smart Adherence Technology to Measure Lumacaftor/Ivacaftor Adherence in CF Subjects Homozygous for the F508del CFTR Mutation |
| NCT02823964 | Phase 4 | COMPLETED | EASY: Extended Access to Sollpura Over Years |
| NCT02875366 | Phase 4 | COMPLETED | A Study of the Effects of Lumacaftor/Ivacaftor (LUM/IVA) on Exercise Tolerance in Subjects With Cystic Fibrosis (CF), Homozygous for the F508del-CFTR Mutation |
| NCT02894684 | Phase 4 | COMPLETED | Aztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis |
| NCT02918409 | Phase 4 | COMPLETED | IV Colistin for Pulmonary Exacerbations: Improving Safety and Efficacy |
| NCT03045198 | Phase 4 | UNKNOWN | Effect of Azithromycin on Fatty Acids in CF |
| NCT03172793 | Phase 4 | COMPLETED | Telavancin Pharmacokinetics in Cystic Fibrosis Patients |
| NCT03256799 | Phase 4 | COMPLETED | Evaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations |
| NCT03256968 | Phase 4 | COMPLETED | PTC Study to Evaluate Ataluren in Combination With Ivacaftor |
| NCT03502070 | Phase 4 | COMPLETED | Human Factors Study to Validate the User Interface of TOBI Podhaler Using Placebo Capsules |
| NCT03624101 | Phase 4 | TERMINATED | Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations |
| NCT03632525 | Phase 4 | COMPLETED | Intravenous Iron in Adults With Cystic Fibrosis |
Related Atlas pages
- Associated diseases: cystic fibrosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cystic fibrosis