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CEACAM6

gene
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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

FieldValue
HGNC IDHGNC:1818
Approved symbolCEACAM6
NameCEA cell adhesion molecule 6
Location19q13.2
Locus typegene with protein product
StatusApproved
AliasesCD66c, NCA-50/90
Ensembl geneENSG00000086548
Ensembl biotypeprotein_coding
OMIM163980
Entrez4680

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

ExonStartEnd
ENSE000008424954176618341766299
ENSE000010530474177080241772211
ENSE000018067894175553041755702
ENSE000024389014175660041756959
ENSE000024779284176196941762223
ENSE000025065884176124941761527

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:

TissueQTLq-valueSlopeLead variant
Esophagus Mucosaeqtl1.9e-05-0.1319:41802009:A:G
Minor Salivary Glandeqtl6.4e-03-1.0619:41474116:C:T
Nerve Tibialeqtl7.0e-03+0.9819:41312640:T:G
Adipose Subcutaneouseqtl1.8e-02-0.7019:41698003:G:A
Brain Cerebellar Hemisphereeqtl2.0e-02+0.7319:42445999:G:A
Skin Sun Exposed Lower legsqtl2.4e-02-0.9019:41755328:G:A
Whole Bloodeqtl3.1e-02-0.0919:41759235:A:G
Livereqtl3.2e-02-0.5619:41237549:C:A
Heart Left Ventricleeqtl4.0e-02-1.0319:41116576:G:C

FANTOM5 promoters

4 alternative TSS:

Promoter IDTPM avgSamples expressed
1760577.0306472
1760580.367082
1760590.181749
1760560.029314

Top tissues by expression

showing 100 of 275 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207999.94gold quality
palpebral conjunctivaUBERON:000181299.87gold quality
nasal cavity epitheliumUBERON:000538499.57gold quality
colonic mucosaUBERON:000031799.43gold quality
mucosa of sigmoid colonUBERON:000499399.38gold quality
esophagus squamous epitheliumUBERON:000692099.36gold quality
lower lobe of lungUBERON:000894999.36gold quality
pharyngeal mucosaUBERON:000035599.26gold quality
epithelium of bronchusUBERON:000203199.20gold quality
bronchial epithelial cellCL:000232899.19gold quality
bronchusUBERON:000218599.19gold quality
trabecular bone tissueUBERON:000248399.19gold quality
epithelium of nasopharynxUBERON:000195199.15gold quality
nasopharynxUBERON:000172899.13gold quality
tongue squamous epitheliumUBERON:000691999.08gold quality
oral cavityUBERON:000016799.02gold quality
urethraUBERON:000005798.85gold quality
epithelium of esophagusUBERON:000197698.73gold quality
jejunal mucosaUBERON:000039998.65gold quality
rectumUBERON:000105298.59gold quality
right lungUBERON:000216798.50gold quality
tracheaUBERON:000312698.37gold quality
cervix epitheliumUBERON:000480198.05gold quality
body of tongueUBERON:001187698.05gold quality
lower esophagus mucosaUBERON:003583498.03gold quality
mucosa of transverse colonUBERON:000499197.93gold quality
cervix squamous epitheliumUBERON:000692297.79gold quality
upper lobe of lungUBERON:000894897.74gold quality
upper lobe of left lungUBERON:000895297.60gold quality
visceral pleuraUBERON:000240197.48gold quality
gall bladderUBERON:000211097.38gold quality
squamous epitheliumUBERON:000691497.33gold quality
bone marrowUBERON:000237197.28gold quality
tongueUBERON:000172397.14gold quality
islet of LangerhansUBERON:000000697.02gold quality
esophagus mucosaUBERON:000246997.01gold quality
ileal mucosaUBERON:000033197.00gold quality
epithelial cell of pancreasCL:000008396.76gold quality
minor salivary glandUBERON:000183096.47gold quality
mouth mucosaUBERON:000372996.26gold quality
mucosa of paranasal sinusUBERON:000503095.94gold quality
saliva-secreting glandUBERON:000104495.68gold quality
lungUBERON:000204895.55gold quality
duodenumUBERON:000211495.48gold quality
superior surface of tongueUBERON:000737195.01gold quality
adult organismUBERON:000702394.66gold quality
bone marrow cellCL:000209294.52gold quality
nasal cavity mucosaUBERON:000182694.28gold quality
amniotic fluidUBERON:000017393.64gold quality
gingivaUBERON:000182892.97gold quality
parotid glandUBERON:000183191.81gold quality
spermCL:000001991.26gold quality
tonsilUBERON:000237291.15gold quality
gingival epitheliumUBERON:000194991.07gold quality
upper leg skinUBERON:000426290.20gold quality
vermiform appendixUBERON:000115490.11gold quality
male germ cellCL:000001589.93gold quality
olfactory segment of nasal mucosaUBERON:000538688.01gold quality
caecumUBERON:000115387.28gold quality
transverse colonUBERON:000115787.02gold quality
vaginaUBERON:000099686.70gold quality
skin of hipUBERON:000155485.72gold quality
buccal mucosa cellCL:000233685.66gold quality
upper arm skinUBERON:000426385.52gold quality
jejunumUBERON:000211585.31gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.74gold quality
periodontal ligamentUBERON:000826682.18gold quality
pancreasUBERON:000126481.55gold quality
oviduct epitheliumUBERON:000480481.13gold quality
mucosa of urinary bladderUBERON:000125979.50gold quality
large intestineUBERON:000005979.36gold quality
diaphragmUBERON:000110378.81gold quality
intestineUBERON:000016078.73gold quality
type B pancreatic cellCL:000016978.57silver quality
colonUBERON:000115578.49gold quality
olfactory bulbUBERON:000226478.02gold quality
monocyteCL:000057677.46gold quality
mononuclear cellCL:000084277.08gold quality
small intestineUBERON:000210876.73gold quality
endometrium epitheliumUBERON:000481176.15gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099175.85gold quality
epithelium of mammary glandUBERON:000324475.81gold quality
mammary ductUBERON:000176575.53gold quality
leukocyteCL:000073875.48gold quality
zone of skinUBERON:000001475.23gold quality
small intestine Peyer’s patchUBERON:000345475.18gold quality
uterine cervixUBERON:000000274.98gold quality
skin of legUBERON:000151174.36gold quality
esophagusUBERON:000104374.12gold quality
bloodUBERON:000017873.62gold quality
colonic epitheliumUBERON:000039773.51gold quality
vastus lateralisUBERON:000137973.46gold quality
body of pancreasUBERON:000115073.42gold quality
fallopian tubeUBERON:000388973.32gold quality
penisUBERON:000098973.00gold quality
quadriceps femorisUBERON:000137772.89gold quality
hair follicleUBERON:000207372.84gold quality
gluteal muscleUBERON:000200071.76gold quality
skin of abdomenUBERON:000141671.65gold quality
triceps brachiiUBERON:000150971.36gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 11.

ExperimentMarker?Max mean expression
E-GEOD-86618yes6918.00
E-MTAB-9801yes2639.35
E-HCAD-15yes1916.79
E-MTAB-8530yes1894.19
E-MTAB-6653yes1209.55
E-MTAB-8410yes1037.31
E-CURD-114yes434.35
E-GEOD-125970yes26.83
E-HCAD-1yes22.52
E-GEOD-130148yes10.38
E-ANND-3no0.00

HPA expression

RNA tissue specificity: Tissue enhanced

59 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Lungtissue270.1medium
Rectumtissue206.9medium
Colontissue183.1medium
Bone marrowtissue171.4low
Esophagustissue154.2not detected
Gallbladdertissue122.2low
Vaginatissue83.1not detected
Salivary glandtissue42.5not detected
Duodenumtissue31.1not detected
Tonsiltissue30.5low
Appendixtissue28.0high
Small intestinetissue23.0not detected
Stomach 1tissue14.7low
Urinary bladdertissue9.0not detected
Fallopian tubetissue7.8not detected
Smooth muscletissue6.2not detected
Cervixtissue4.9not detected
Basal gangliatissue4.6not detected
Putamentissue4.6
Cerebellumtissue3.3not detected
Skin 1tissue3.2not detected
Cerebral cortextissue3.1not detected
Nucleus accumbenstissue3.1
Pancreastissue2.9not detected
Medulla oblongatatissue2.7
Amygdalatissue2.6
Breasttissue2.5not detected
Ponstissue2.5
Occipital cortextissue2.5
Thalamustissue2.4
Hippocampal formationtissue2.4
Midbraintissue2.3
Prostatetissue2.3not detected
Hypothalamustissue2.2
Retrosplenial cortextissue2.2
Hippocampustissue2.1not detected
Thymustissue2.0
Adipose tissuetissue1.9not detected
Postcentral gyrustissue1.9
Choroid plexustissue1.8
Spinal cordtissue1.8
Epididymistissue1.7not detected
Locus coeruleustissue1.7
Substantia nigratissue1.4
Seminal vesicletissue1.3not detected
Spleentissue0.7low
Livertissue0.7not detected
Endometrium 1tissue0.5not detected
Placentatissue0.5not detected
Testistissue0.4not detected
Adrenal glandtissue0.4not detected
Lymph nodetissue0.3low
Kidneytissue0.3not detected
Pituitary glandtissue0.2
Thyroid glandtissue0.2not detected
Heart muscletissue0.1not detected
Parathyroid glandtissue0.1not detected
Nasopharynxtissue-1.0low
Bronchustissue-1.0low

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:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4682100.0068.891258
HSA-MIR-3925-3P100.0069.951237
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-477599.9875.006394
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-548N99.9871.944170
HSA-MIR-1229-3P99.9766.49906
HSA-MIR-7152-3P99.9767.47849
HSA-MIR-9-3P99.9670.882068
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-3912-5P99.9566.11925
HSA-MIR-381-3P99.9371.872854
HSA-MIR-314399.9371.963104
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-311999.9271.342390
HSA-MIR-30099.9271.762856
HSA-MIR-477999.8666.501583
HSA-MIR-76599.8468.242442
HSA-MIR-548AZ-5P99.8369.943230
HSA-MIR-548T-5P99.8369.913220
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-205-5P99.8170.051557
HSA-MIR-489-3P99.8066.46839
HSA-MIR-204-5P99.7971.622439
HSA-MIR-211-5P99.7971.652440
HSA-MIR-11181-3P99.7566.382205
HSA-MIR-4446-5P99.7269.192544

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

OrganismSymbolGene ID
mus_musculusPsg18ENSMUSG00000003505
mus_musculusPsg17ENSMUSG00000004540
mus_musculusPsg19ENSMUSG00000004542
mus_musculusCeacam5ENSMUSG00000008789
mus_musculusPsg29ENSMUSG00000023159
mus_musculusCeacam14ENSMUSG00000023185
mus_musculusCeacam12ENSMUSG00000030366
mus_musculusCeacam11ENSMUSG00000030368
mus_musculusPsg28ENSMUSG00000030373
mus_musculusPsg22ENSMUSG00000044903
mus_musculusCeacam3ENSMUSG00000053228
mus_musculusCeacam10ENSMUSG00000054169
mus_musculusCeacam2ENSMUSG00000054385
mus_musculusCeacam13ENSMUSG00000057195
mus_musculusPsg20ENSMUSG00000063305
mus_musculusPsg16ENSMUSG00000066760
mus_musculusPsg21ENSMUSG00000070796
mus_musculusPsg27ENSMUSG00000070797
mus_musculusPsg25ENSMUSG00000070798
mus_musculusPsg26ENSMUSG00000070799
mus_musculusCeacam1ENSMUSG00000074272
mus_musculusPsg23ENSMUSG00000074359
mus_musculusCeacam23ENSMUSG00000078793
rattus_norvegicusLOC102557244ENSRNOG00000017519
rattus_norvegicusCeacam11ENSRNOG00000017620
rattus_norvegicusCeacam1ENSRNOG00000020578
rattus_norvegicusPsgb1ENSRNOG00000027288
rattus_norvegicusCeacam3ENSRNOG00000027607
rattus_norvegicusPsg29ENSRNOG00000029485
rattus_norvegicusLOC120098290ENSRNOG00000034000
rattus_norvegicusPsg19ENSRNOG00000038101
rattus_norvegicusCeacam12ENSRNOG00000042158
rattus_norvegicusCeacam4ENSRNOG00000046222
rattus_norvegicusPsg16ENSRNOG00000062379
rattus_norvegicusCgm4ENSRNOG00000062787
rattus_norvegicusLOC102557319ENSRNOG00000071114

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 level2
decreased mean corpuscular hemoglobin concentration2
decreased susceptibility to Coronaviridae infection2
increased leukocyte cell number1
abnormal colon morphology1
obese1
polyphagia1
increased circulating HDL cholesterol level1
decreased litter size1
abnormal coat/hair pigmentation1
abnormal glucose homeostasis1
decreased susceptibility to viral infection1
abnormal T cell physiology1
increased mean platelet volume1
decreased circulating triglyceride level1
abnormal cytokine secretion1
decreased circulating chloride level1
increased insulin secretion1
increased lean body mass1
increased incidence of tumors by chemical induction1
abnormal vascular wound healing1
decreased energy expenditure1
decreased T cell number1
decreased T cell proliferation1
decreased circulating cholesterol level1

+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.

OrganismUniProtIdentityMethod
Pongo pygmaeusQ9N1E392.5%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).

SymbolTypeEntrez
CEACAM5protein-coding1048
CEACAM3protein-coding1084
LYPD4protein-coding147719
CEACAM7protein-coding1087
DMRTC2protein-coding63946

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)

IDNameType
IPR003598Ig_sub2Domain
IPR003599Ig_subDomain
IPR007110Ig-like_domDomain
IPR013106Ig_V-setDomain
IPR013783Ig-like_foldHomologous_superfamily
IPR036179Ig-like_dom_sfHomologous_superfamily
IPR050831CEA_cell_adhesionFamily

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:

PDBTitleMethodResolution (Å)
4Y8ACrystal Structure of the N-terminal domain of CEACAM6X-RAY DIFFRACTION1.83
4YIQStructure of the CEACAM6-CEACAM8 heterodimerX-RAY DIFFRACTION1.85
4WTZHuman CEACAM6-CEACAM8 N-domain heterodimer complexX-RAY DIFFRACTION2.52
4WHCHuman CEACAM6 N-domainX-RAY DIFFRACTION2.71
9RCUCardioderma bat coronavirus 2B receptor binding domain in complex with human CEACAM6X-RAY DIFFRACTION2.99
9RCSCardioderma bat coronavirus KY43 receptor binding domain in complex with human CEACAM6X-RAY DIFFRACTION3.01

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P40199-F188.520.83

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)

TypePositions
Gpi-anchor amidated glycine320

Disulfide bonds (2)

TypePositions
Disulfide bond167–215, 259–299

Glycosylation sites (12)

TypePositions
N-linked (glcnac…) asparagine152, 173, 197, 224, 256, 274, 288, 292, 309, 104, 111, 115

Mutagenesis-validated functional residues (10)

PositionPhenotype
38loss of homodimerization and heterodimerization with ceacam8.
53no effect on homodimerization. reduces heterodimerization with ceacam8.
55no effect on homophilic and heterophilic cell adhesion.
61inhibits homophilic and heterophilic cell adhesion.
62no effect on homophilic cell adhesion. reduces heterophilic cell adhesion.
63no effect on homophilic cell adhesion. inhibits heterophilic cell adhesion.
66inhibits homophilic cell adhesion. reduces heterophilic cell adhesion.
78inhibits homophilic cell adhesion. no effect on heterophilic cell adhesion.
123no effect on homodimerization. reduces heterodimerization with ceacam8.
129reduces 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:

IDPathwayEvidence
R-HSA-202733Cell surface interactions at the vascular wallcurated
R-HSA-1566977Fibronectin matrix formationcurated
R-HSA-6798695Neutrophil degranulationcurated
R-HSA-1474244Extracellular matrix organization—
R-HSA-109582Hemostasis—
R-HSA-168256Immune System—
R-HSA-168249Innate 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:

CategoryPathways
Extracellular matrix organization1
Hemostasis1
Innate Immune System1
Immune System1

GO top-level categories

32 GO namespaces:

CategoryTerms
cellular anatomical structure3
cell-cell adhesion2
membrane2
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
cell population proliferation1
regulation of cell population proliferation1
positive regulation of cellular process1
cell migration1
regulation of cell migration1
positive regulation of cell motility1
positive regulation of cell-cell adhesion1
heterotypic cell-cell adhesion1
regulation of heterotypic cell-cell adhesion1
positive regulation of cell-matrix adhesion1
endothelial cell-matrix adhesion1
regulation of endothelial cell-matrix adhesion1
negative regulation of apoptotic process1
anoikis1
regulation of anoikis1
cellular process1
protein binding1
protein dimerization activity1
binding1
cell periphery1
apical part of cell1
plasma membrane region1
lysosomal membrane1
secretory granule membrane1
azurophil granule1
leaflet of membrane bilayer1

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 termNSEvidence
heterophilic cell-cell adhesionBPmutant phenotype
homophilic cell-cell adhesionBPmutant phenotype
negative regulation of anoikisBPmutant phenotype
positive regulation of cell migrationBPmutant phenotype
positive regulation of cell population proliferationBPmutant phenotype
positive regulation of endothelial cell-matrix adhesionBPmutant phenotype
positive regulation of heterotypic cell-cell adhesionBPmutant phenotype
apical plasma membraneCCdirect assay
cell surfaceCCdirect assay
membraneCCdirect assay
identical protein bindingMFdirect assay
protein heterodimerization activityMFdirect assay

Protein interactions and networks

STRING

showing 15 of 1,392 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
CEACAM6A1BGP04217547
CEACAM6MUC4Q99102537
CEACAM6TACSTD2P09758513
CEACAM6MUC5BQ9HC84499
CEACAM6MUC5ACP98088498
CEACAM6MUC13Q9H3R2487
CEACAM6MUC17Q685J3464
CEACAM6CYTH4Q9UIA0463
CEACAM6DEFA4P12838450
CEACAM6MUC2Q02817449
CEACAM6MUC20Q8N307430
CEACAM6DEFA5Q01523412
CEACAM6DEFA6Q01524412
CEACAM6ERV3-1Q14264410
CEACAM6ERVFRD-1P60508409

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:

PartnerInteraction typeMIscoreRecords
CEACAM8direct interaction0.8208
CEACAM1physical association0.6103
MSS51physical association0.5605
UBQLN2physical association0.5605
ASPGphysical association0.5603
CIB1physical association0.5603
CSTF2physical association0.5603
EXOC3L1physical association0.5603
FOXH1physical association0.5603
GCM2physical association0.5603
GPANK1physical association0.5603
HGSphysical association0.5603
HPCAL4physical association0.5603
KANK2physical association0.5603
MYOZ1physical association0.5603
PITX1physical association0.5603
POM121physical association0.5603
QRICH1physical association0.5603
RHOXF2physical association0.5603
SHC3physical association0.5603
SMARCD1physical association0.5603
TLX3physical association0.5603
TNXBphysical association0.5603
VENTXphysical association0.5603
VEZF1physical association0.5603
WWOXphysical association0.5603
ZMYND19physical association0.5603
ZNF76physical association0.5603
CARTPTphysical association0.5403
CEACAM5physical association0.4001

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:

PartnerThis gene’s roleSignaling class
CEACAM6ligandAdhesion by CEAM
CEACAM5receptorAdhesion by CEAM
CEACAM8receptorAdhesion by CEAM
CEACAM1receptorAdhesion 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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance41
Likely benign7
Benign2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 312):

Position(s)EffectΔscoreSites
19:41755703donor_loss1.0000
19:41755703–41755704donor_loss0.99003
19:41756598–41756599acceptor_loss0.99006
19:41761246acceptor_gain0.9900
19:41761247–41761248acceptor_loss0.99006
19:41761528–41761529donor_loss0.99005
19:41769664donor_gain0.9900
19:41755704donor_loss0.9800
19:41756960–41756961donor_loss0.98005
19:41756964donor_loss0.98002

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:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
W6770.8610.956
C29970.8490.942
C25970.8480.913
C21570.8450.941
W27170.8380.939
C16770.8280.884
W17860.8530.935
S22660.8090.941
D11660.6400.678
N30350.7350.895
G9250.7270.766
F13850.7260.796
Y29750.7170.898
G23640.7510.815
S26340.7500.824
Y12040.7490.906
Y21340.7210.873
Y26940.6810.754
G11840.5890.619
L10730.8270.939

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:

DiseaseClassificationInheritanceRecords
cystic fibrosisSupportiveAutosomal recessive

Mondo (1): cystic fibrosis (MONDO:0009061)

HPO phenotypes

35 phenotypes (HPO-id order):

HPOTerm
HP:0000246Sinusitis
HP:0000365Hearing impairment
HP:0000716Depression
HP:0000739Anxiety
HP:0000787Kidney stone
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001392Abnormality of the liver
HP:0001394Cirrhosis
HP:0001508Failure to thrive
HP:0001738Exocrine pancreatic insufficiency
HP:0002020Gastroesophageal reflux
HP:0002024Malabsorption
HP:0002035Rectal prolapse
HP:0002099Asthma
HP:0002105Hemoptysis
HP:0002107Pneumothorax
HP:0002110Bronchiectasis
HP:0002205Recurrent respiratory infections
HP:0002570Steatorrhea
HP:0002724Recurrent Aspergillus infection
HP:0002726Recurrent Staphylococcus aureus infection
HP:0002783Recurrent lower respiratory tract infections
HP:0002842Recurrent Burkholderia cepacia infection
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003251Male infertility
HP:0004401Meconium ileus
HP:0005376Recurrent Haemophilus influenzae infection
HP:0006536Airway obstruction
HP:0012236Elevated sweat chloride
HP:0012873Absent vas deferens
HP:0032261Nontuberculous mycobacterial pulmonary infection
HP:0032342Reduced forced expiratory volume in one second
HP:0045082Decreased body mass index
HP:0100582Nasal polyposis

GWAS associations

1 associations:

StudyTraitp-value
GCST009650_9Serum carcinoembryonic antigen levels5e-10

EFO canonical traits (from GWAS)

1 canonical traits:

EFO IDTrait name
EFO:0005760serum carcinoembryonic antigen measurement

MeSH disease descriptors

1 disease descriptors:

DescriptorNameTree numbers
D003550Cystic FibrosisC06.689.202; 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.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects cotreatment, affects expression, increases expression, increases methylation3
Estradiolaffects cotreatment, increases expression, decreases expression3
Calcitriolincreases expression2
Lipopolysaccharidesaffects expression, affects response to substance, affects cotreatment, decreases expression2
Tetrachlorodibenzodioxinaffects cotreatment, increases expression2
Tobacco Smoke Pollutionaffects expression, increases expression2
Tretinoinincreases expression2
Cadmium Chlorideincreases expression, decreases expression, increases abundance2
ascorbate-2-phosphateaffects binding, affects cotreatment, increases expression1
pyrazolo(3,4-d)pyrimidineaffects expression1
beta-lapachoneincreases expression1
zinc chlorideincreases expression1
sodium arsenitedecreases expression1
cobaltous chloridedecreases expression1
butyraldehydedecreases expression1
tetrathiomolybdatedecreases expression1
tanshinonedecreases expression1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acidaffects cotreatment, increases expression1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, decreases expression1
1-methylphenanthreneaffects expression, affects cotreatment1
dibenzo(a,l)pyreneaffects cotreatment, affects expression1
tamibaroteneincreases expression, increases reaction, decreases expression, decreases reaction1
indolo(3,2-b)carbazoleincreases expression1
CGP 52608affects binding, increases reaction1
azaspiracidincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
Chir 99021affects cotreatment, increases expression, affects binding1
clothianidinincreases expression1
abrinedecreases expression1
XAV939affects binding, affects cotreatment, increases expression1

Cellosaurus cell lines

3 cell lines: 2 transformed cell line, 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_C0EKHEK293-CEACAM6-FcTransformed cell lineFemale
CVCL_E6PXGenomeditech CHO-K1 H_CEACAM6(CD66c)Spontaneously immortalized cell lineFemale
CVCL_E6TLGenomeditech HEK-293 H_CEACAM6(CD66c)Transformed cell lineFemale

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 300 trials:

NCTPhaseStatusTitle
NCT00157690Phase 4COMPLETEDStudy of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients
NCT00208078Phase 4TERMINATEDEffect of Non-Invasive Ventilation in Cystic Fibrosis Patient With Chronic Respiratory Failure.
NCT00244270Phase 4COMPLETEDCystic Fibrosis and Totally Implantable Vascular Access Devices
NCT00333385Phase 4TERMINATEDContinuous Versus Short Infusions of Ceftazidime in Cystic Fibrosis
NCT00411736Phase 4COMPLETEDScandinavian Cystic Fibrosis Azithromycin Study
NCT00418470Phase 4TERMINATEDProlonging the Duration of Peripheral Venous Catheters in Cystic Fibrosis People
NCT00431964Phase 4COMPLETEDEffect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa
NCT00434278Phase 4TERMINATEDA Trial of Pulmozyme Withdrawal on Exercise Tolerance in Cystic Fibrosis Subjects With Severe Lung Disease (TOPIC)
NCT00483769Phase 4COMPLETEDOne Year Glargine Treatment in CFRD Children and Adolescents
NCT00528190Phase 4COMPLETEDTreatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis
NCT00557089Phase 4COMPLETEDThe Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis
NCT00572975Phase 4COMPLETEDMalabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea
NCT00680316Phase 4TERMINATEDA Study of Pulmozyme® (Dornase Alpha) in 3- to 5-Year-Old Patients With Cystic Fibrosis
NCT00685035Phase 4COMPLETEDComparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings
NCT00744250Phase 4TERMINATEDIntraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control
NCT00787917Phase 4TERMINATEDAn Exploratory Study to Assess Multiple Doses of Omalizumab in Patients With Cystic Fibrosis Complicated by Acute Bronchopulmonary Aspergillosis (ABPA)
NCT00843817Phase 4COMPLETEDRhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum
NCT00890370Phase 4COMPLETEDShould Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis?
NCT00996424Phase 4TERMINATEDThe Effect of Inhaled N-Acetylcysteine Compared to Normal Saline on Sputum Rheology and Lung Function
NCT01044719Phase 4UNKNOWNDuration of Antibiotics in Infective Exacerbations of Cystic Fibrosis
NCT01100606Phase 4COMPLETEDA Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age
NCT01131507Phase 4COMPLETEDPR-018: An Open-Label, Safety Extension of Study PR-011
NCT01207245Phase 4COMPLETEDCircadian Rhythm In Tobramycin Elimination In Cystic Fibrosis
NCT01323101Phase 4COMPLETEDDoxycycline Effects on Inflammation in Cystic Fibrosis
NCT01327703Phase 4COMPLETEDControl of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency
NCT01377792Phase 4COMPLETEDStudy of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis
NCT01400750Phase 4COMPLETEDComparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis
NCT01429259Phase 4COMPLETEDPopulation Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children
NCT01608555Phase 4COMPLETEDTobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis
NCT01667094Phase 4UNKNOWNA Study Comparing Continuous Infusion Antibiotics to Standard Treatment for Lung Infections in Cystic Fibrosis
NCT01694069Phase 4TERMINATEDContinuous Infusion Piperacillin-tazobactam for the Treatment of Cystic Fibrosis
NCT01702415Phase 4WITHDRAWNZoledronic Acid in Cystic Fibrosis
NCT01712334Phase 4COMPLETEDA Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis
NCT01737983Phase 4COMPLETEDEffect of Lactobacillus Reuteri in Cystic Fibrosis
NCT01844778Phase 4COMPLETEDEase of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI)
NCT01880346Phase 4COMPLETEDComparison of Absorption of Vitamin D in Cystic Fibrosis
NCT01882400Phase 4COMPLETEDAssessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT01937325Phase 4UNKNOWNCPET in CF Patients With One G551D Mutation Taking VX770
NCT02015663Phase 4TERMINATEDTobramycin Inhalation Powder (TIP) Administered Once Daily Continuously Versus TIP Administered BID in 28 Day on / 28 Day Off Cycles
NCT02048592Phase 4UNKNOWNImpact of Immunonutrition on the Patients With Cystic Fibrosis
NCT02178540Phase 4COMPLETEDStudy to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients
NCT02277626Phase 4COMPLETEDElectro Flo 5000 and Vest Therapy
NCT02421120Phase 4COMPLETEDPopulation Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients
NCT02444234Phase 4COMPLETEDPharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis
NCT02504827Phase 4COMPLETEDSteady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis
NCT02547116Phase 4WITHDRAWNEpidemiology and Treatment of Small-colony Variant Staphylococcus Aureus in Cystic Fibrosis
NCT02677701Phase 4COMPLETEDTesting the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With Cystic Fibrosis (CF)
NCT02700282Phase 4COMPLETEDBackpack Carrying in Children With Cystic Fibrosis
NCT02823470Phase 4TERMINATEDA Pilot Study to Evaluate the Use of Smart Adherence Technology to Measure Lumacaftor/Ivacaftor Adherence in CF Subjects Homozygous for the F508del CFTR Mutation
NCT02823964Phase 4COMPLETEDEASY: Extended Access to Sollpura Over Years
NCT02875366Phase 4COMPLETEDA Study of the Effects of Lumacaftor/Ivacaftor (LUM/IVA) on Exercise Tolerance in Subjects With Cystic Fibrosis (CF), Homozygous for the F508del-CFTR Mutation
NCT02894684Phase 4COMPLETEDAztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis
NCT02918409Phase 4COMPLETEDIV Colistin for Pulmonary Exacerbations: Improving Safety and Efficacy
NCT03045198Phase 4UNKNOWNEffect of Azithromycin on Fatty Acids in CF
NCT03172793Phase 4COMPLETEDTelavancin Pharmacokinetics in Cystic Fibrosis Patients
NCT03256799Phase 4COMPLETEDEvaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations
NCT03256968Phase 4COMPLETEDPTC Study to Evaluate Ataluren in Combination With Ivacaftor
NCT03502070Phase 4COMPLETEDHuman Factors Study to Validate the User Interface of TOBI Podhaler Using Placebo Capsules
NCT03624101Phase 4TERMINATEDNovel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations
NCT03632525Phase 4COMPLETEDIntravenous Iron in Adults With Cystic Fibrosis
  • 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