CEACAM4
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Summary
CEACAM4 (CEA cell adhesion molecule 4, HGNC:1816) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM4 (O75871). Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles.
Predicted to enable protein tyrosine kinase binding activity. Involved in phagocytosis. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane.
Source: NCBI Gene 1089 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 47 total
- GTEx eGene: eQTL in 22 tissues, sQTL in 3 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.45 (unconstrained)
- MANE Select transcript:
NM_001817
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1816 |
| Approved symbol | CEACAM4 |
| Name | CEA cell adhesion molecule 4 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000105352 |
| Ensembl biotype | protein_coding |
| OMIM | 619159 |
| Entrez | 1089 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
MANE Select: ENST00000221954
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2
ENST00000221954, ENST00000472081, ENST00000600925, ENST00000902906, ENST00001028485, ENST00001093480, ENST00001093481, ENST00001143378
RefSeq mRNA: 4 — MANE Select: NM_001817
NM_001362492, NM_001362493, NM_001362495, NM_001817
CCDS: CCDS33033
Canonical transcript exons
ENST00000221954 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000708545 | 41625601 | 41625960 |
| ENSE00000842460 | 41619670 | 41619711 |
| ENSE00000842461 | 41620211 | 41620242 |
| ENSE00001322806 | 41619015 | 41619395 |
| ENSE00002493926 | 41621651 | 41621768 |
| ENSE00002514344 | 41620575 | 41620627 |
| ENSE00003554911 | 41626900 | 41627074 |
Expression profiles
Bgee: expression breadth ubiquitous, 126 present calls, max score 95.65.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1596 / max 431.5855, expressed in 241 samples.
Highest expression (Bgee): blood, monocyte, spleen, leukocyte, granulocyte.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CEACAM4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 22 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 25 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Whole Blood | sqtl | 4.9e-68 | +0.89 | 19:41620075:C:T |
| Whole Blood | eqtl | 8.9e-33 | -0.21 | 19:41619287:C:T |
| Nerve Tibial | eqtl | 1.2e-13 | -0.25 | 19:41609565:A:G |
| Artery Tibial | eqtl | 2.1e-12 | -0.24 | 19:41621829:A:G |
| Spleen | sqtl | 1.0e-10 | +0.79 | 19:41618000:A:AACCTGTGGCAGTGGCAGAACACTCTTGGG |
| Lung | eqtl | 7.0e-07 | -0.13 | 19:41609565:A:G |
| Esophagus Mucosa | eqtl | 1.1e-06 | -0.18 | 19:41609815:C:G |
| Pancreas | eqtl | 1.5e-04 | +0.94 | 19:41597766:G:A |
| Breast Mammary Tissue | eqtl | 2.8e-04 | -0.19 | 19:41632519:T:C |
| Spleen | eqtl | 4.8e-04 | -0.74 | 19:41664392:C:A |
| Adrenal Gland | eqtl | 6.9e-04 | -0.38 | 19:41624402:A:G |
| Skin Sun Exposed Lower leg | eqtl | 7.6e-04 | -0.15 | 19:41619287:C:T |
| Brain Putamen basal ganglia | eqtl | 1.3e-03 | -1.50 | 19:40670091:C:T |
| Esophagus Muscularis | eqtl | 1.3e-03 | -0.20 | 19:41609766:A:G |
| Adipose Visceral Omentum | eqtl | 2.7e-03 | -0.11 | 19:41609766:A:G |
| Lung | sqtl | 5.3e-03 | -0.37 | 19:41619287:C:T |
| Colon Transverse | eqtl | 5.9e-03 | -0.18 | 19:41609766:A:G |
| Esophagus Gastroesophageal Junction | eqtl | 7.9e-03 | -0.21 | 19:41610711:A:G |
| Small Intestine Terminal Ileum | eqtl | 8.1e-03 | -0.30 | 19:41608577:T:C |
| Vagina | eqtl | 1.2e-02 | +3.10 | 19:40838571:C:T |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181082 | 2.9506 | 226 |
| 181081 | 0.2090 | 59 |
Top tissues by expression
showing 100 of 134 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 95.65 | gold quality |
| monocyte | CL:0000576 | 89.71 | gold quality |
| spleen | UBERON:0002106 | 89.46 | gold quality |
| leukocyte | CL:0000738 | 89.36 | gold quality |
| granulocyte | CL:0000094 | 87.54 | gold quality |
| bone marrow | UBERON:0002371 | 85.94 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.26 | silver quality |
| bone marrow cell | CL:0002092 | 81.48 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.21 | gold quality |
| right lung | UBERON:0002167 | 80.83 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 73.50 | gold quality |
| lymph node | UBERON:0000029 | 67.02 | gold quality |
| lung | UBERON:0002048 | 66.74 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 66.17 | gold quality |
| gall bladder | UBERON:0002110 | 66.02 | gold quality |
| right coronary artery | UBERON:0001625 | 65.92 | gold quality |
| left uterine tube | UBERON:0001303 | 65.33 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 64.63 | gold quality |
| placenta | UBERON:0001987 | 63.10 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 62.45 | gold quality |
| mucosa of stomach | UBERON:0001199 | 62.24 | gold quality |
| omental fat pad | UBERON:0010414 | 61.84 | gold quality |
| small intestine | UBERON:0002108 | 61.46 | gold quality |
| left coronary artery | UBERON:0001626 | 61.07 | gold quality |
| duodenum | UBERON:0002114 | 60.83 | gold quality |
| esophagus mucosa | UBERON:0002469 | 60.53 | gold quality |
| adipose tissue | UBERON:0001013 | 60.39 | gold quality |
| heart left ventricle | UBERON:0002084 | 60.35 | gold quality |
| tibial nerve | UBERON:0001323 | 59.78 | gold quality |
| body of pancreas | UBERON:0001150 | 59.30 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 59.01 | gold quality |
| apex of heart | UBERON:0002098 | 58.82 | gold quality |
| thoracic aorta | UBERON:0001515 | 58.61 | gold quality |
| right adrenal gland | UBERON:0001233 | 58.26 | gold quality |
| ascending aorta | UBERON:0001496 | 57.94 | gold quality |
| minor salivary gland | UBERON:0001830 | 57.84 | gold quality |
| heart | UBERON:0000948 | 57.58 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 57.54 | gold quality |
| esophagus | UBERON:0001043 | 57.41 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 57.29 | gold quality |
| liver | UBERON:0002107 | 57.12 | gold quality |
| prostate gland | UBERON:0002367 | 57.10 | gold quality |
| right lobe of liver | UBERON:0001114 | 56.68 | gold quality |
| left adrenal gland | UBERON:0001234 | 56.66 | gold quality |
| body of stomach | UBERON:0001161 | 56.59 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 56.58 | gold quality |
| urinary bladder | UBERON:0001255 | 56.37 | gold quality |
| intestine | UBERON:0000160 | 56.29 | gold quality |
| transverse colon | UBERON:0001157 | 55.44 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 55.39 | gold quality |
| colon | UBERON:0001155 | 55.08 | gold quality |
| tibial artery | UBERON:0007610 | 54.98 | gold quality |
| right atrium auricular region | UBERON:0006631 | 54.97 | gold quality |
| popliteal artery | UBERON:0002250 | 54.95 | gold quality |
| adrenal gland | UBERON:0002369 | 54.92 | gold quality |
| fallopian tube | UBERON:0003889 | 54.64 | gold quality |
| rectum | UBERON:0001052 | 54.53 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 54.40 | gold quality |
| lower esophagus | UBERON:0013473 | 54.34 | gold quality |
| material anatomical entity | UBERON:0000465 | 54.08 | gold quality |
| anatomical system | UBERON:0000467 | 54.08 | gold quality |
| multicellular organism | UBERON:0000468 | 54.08 | gold quality |
| myometrium | UBERON:0001296 | 53.34 | gold quality |
| stomach | UBERON:0000945 | 53.29 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 53.28 | gold quality |
| vagina | UBERON:0000996 | 53.18 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 52.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 52.08 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 52.01 | gold quality |
| endocervix | UBERON:0000458 | 51.90 | gold quality |
| pancreas | UBERON:0001264 | 51.81 | gold quality |
| tonsil | UBERON:0002372 | 51.63 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 51.56 | gold quality |
| sural nerve | UBERON:0015488 | 51.52 | silver quality |
| thoracic mammary gland | UBERON:0005200 | 51.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 50.81 | gold quality |
| body of uterus | UBERON:0009853 | 50.40 | gold quality |
| muscle of leg | UBERON:0001383 | 50.39 | gold quality |
| ectocervix | UBERON:0012249 | 49.47 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 49.43 | gold quality |
| muscle tissue | UBERON:0002385 | 49.35 | gold quality |
| uterine cervix | UBERON:0000002 | 49.27 | gold quality |
| substantia nigra | UBERON:0002038 | 49.21 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 49.11 | gold quality |
| fundus of stomach | UBERON:0001160 | 48.61 | gold quality |
| right ovary | UBERON:0002118 | 48.12 | gold quality |
| calcaneal tendon | UBERON:0003701 | 48.10 | silver quality |
| skin of leg | UBERON:0001511 | 48.09 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 47.92 | gold quality |
| thyroid gland | UBERON:0002046 | 47.83 | gold quality |
| zone of skin | UBERON:0000014 | 46.67 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 46.58 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 46.00 | gold quality |
| cortex of kidney | UBERON:0001225 | 45.61 | gold quality |
| kidney | UBERON:0002113 | 45.13 | gold quality |
| skin of abdomen | UBERON:0001416 | 45.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 44.76 | silver quality |
| Ammon’s horn | UBERON:0001954 | 43.84 | gold quality |
| pituitary gland | UBERON:0000007 | 43.57 | gold quality |
| amygdala | UBERON:0001876 | 43.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.34 |
HPA expression
RNA tissue specificity: Tissue enriched
48 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Bone marrow | tissue | 7.1 |
| Pancreas | tissue | 2.0 |
| Spleen | tissue | 1.7 |
| Appendix | tissue | 1.7 |
| Vagina | tissue | 0.6 |
| Choroid plexus | tissue | 0.6 |
| Medulla oblongata | tissue | 0.6 |
| Lymph node | tissue | 0.5 |
| Lung | tissue | 0.5 |
| Liver | tissue | 0.5 |
| Gallbladder | tissue | 0.5 |
| Urinary bladder | tissue | 0.4 |
| Amygdala | tissue | 0.4 |
| Duodenum | tissue | 0.4 |
| Pituitary gland | tissue | 0.3 |
| Stomach 1 | tissue | 0.3 |
| Cerebral cortex | tissue | 0.3 |
| Pons | tissue | 0.3 |
| Adipose tissue | tissue | 0.3 |
| Basal ganglia | tissue | 0.3 |
| Midbrain | tissue | 0.3 |
| Thalamus | tissue | 0.3 |
| Hypothalamus | tissue | 0.3 |
| Substantia nigra | tissue | 0.3 |
| Spinal cord | tissue | 0.3 |
| Endometrium 1 | tissue | 0.2 |
| Putamen | tissue | 0.2 |
| Placenta | tissue | 0.2 |
| Cerebellum | tissue | 0.2 |
| Hippocampus | tissue | 0.2 |
| Adrenal gland | tissue | 0.2 |
| Hippocampal formation | tissue | 0.2 |
| Retrosplenial cortex | tissue | 0.2 |
| Occipital cortex | tissue | 0.2 |
| Heart muscle | tissue | 0.1 |
| Ovary | tissue | 0.1 |
| Esophagus | tissue | 0.1 |
| Salivary gland | tissue | 0.1 |
| Rectum | tissue | 0.1 |
| Skeletal muscle | tissue | 0.1 |
| Smooth muscle | tissue | 0.1 |
| Colon | tissue | 0.1 |
| Small intestine | tissue | 0.1 |
| Locus coeruleus | tissue | 0.1 |
| Prostate | tissue | 0.1 |
| Thymus | tissue | 0.1 |
| Tonsil | tissue | 0.1 |
| Postcentral gyrus | tissue | 0.1 |
Brain sub-regions (HPA Brain Atlas): detected in 164; highest nTPM — Blood vessel (1.4), Nucleus raphe pallidus (0.6), Area postrema (0.4), Corticomedial amygdala (0.4), Medial olivary nucleus (0.4).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting CEACAM4 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
6 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-488-5P | 99.28 | 68.12 | 821 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-4468 | 98.01 | 66.85 | 1187 |
Functional genomics
gnomAD constraint: pLI 2.75e-10, LOEUF 1.45, missense Z -0.485 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000221954 — one region, missense o/e 1.07.
Literature-anchored findings (GeneRIF, showing 2)
- CEACAM4 is expressed in tumor-derived cell lines, and this expression is specific to an medullary thyroid carcinoma derived cell line. (PMID:25152032)
- CEACAM4 has phagocytic function. (PMID:25567962)
Cross-species orthologs
0 orthologs
Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), 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)
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 |
|---|---|---|---|
| Rattus norvegicus | D3ZQE1 | 97.4% | Diamond |
| Mus musculus | E9QA28 | 97.4% | 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 |
|---|---|---|
| CEACAM7 | protein-coding | 1087 |
| CEACAM21 | protein-coding | 90273 |
| LINC01480 | ncRNA | 101927931 |
| CEACAM5 | protein-coding | 1048 |
Protein
Protein identifiers
Cell adhesion molecule CEACAM4 — O75871 (reviewed: O75871)
Alternative names: Carcinoembryonic antigen CGM7, Carcinoembryonic antigen-related cell adhesion molecule 4, Non-specific cross-reacting antigen W236
All UniProt accessions (3): A0A077JJN3, O75871, M0R363
UniProt curated annotations — full annotation on UniProt →
Function. Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles.
Subunit / interactions. Interacts through its phosphorylated ITAM domain with the SH2 domain-containing cytoplasmic proteins involved in signaling processes during phagocytosis.
Subcellular location. Membrane.
Tissue specificity. Granulocytes.
Post-translational modifications. N-glycosylated. The cytoplasmic ITAM-like sequence becomes tyrosine phosphorylated by SRC family PTKs upon ligand-mediated receptor clustering and allows to initiate phagocytosis of bound ligand.
Miscellaneous. To study the function of the orphan receptor CEACAM4 chimeric proteins containing the extracellular bacteria-binding domain of CEACAM3 and the transmembrane and cytoplasmic part of CEACAM4 has been used.
Similarity. Belongs to the immunoglobulin superfamily. CEA family.
RefSeq proteins (4): NP_001349421, NP_001349422, NP_001349424, NP_001808* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| 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
UniProt features (18 total): glycosylation site 4, sequence variant 2, mutagenesis site 2, sequence conflict 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, short sequence motif 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75871-F1 | 76.99 | 0.51 |
Human Protein Atlas
Protein class: Predicted membrane proteins
Protein evidence: Evidence at protein level
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (4)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 111, 126, 57, 104 |
Mutagenesis-validated functional residues (2)
| Position | Phenotype |
|---|---|
| 222 | no internalization of bacteria; when associated with f-233. |
| 233 | no internalization of bacteria; when associated with f-222. |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 63 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, TSENG_IRS1_TARGETS_UP, MODULE_45, MODULE_64, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, CAR_MYST2, MODULE_157, CAR_MLANA, SANSOM_APC_TARGETS_DN, AFFAR_YY1_TARGETS_DN, MODULE_242, GOBP_IMPORT_INTO_CELL, MODULE_20
GO Biological Process (3): regulation of immune system process (GO:0002682), phagocytosis (GO:0006909), signal transduction (GO:0007165)
GO Molecular Function (2): protein tyrosine kinase binding (GO:1990782), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
GO top-level categories
13 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| immune system process | 1 |
| regulation of biological process | 1 |
| endocytosis | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| protein kinase binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).
1 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| phagocytosis | BP | direct assay |
Protein interactions and networks
STRING
showing 15 of 720 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEACAM4 | CEACAM20 | Q6UY09 | 610 |
| CEACAM4 | GK5 | Q6ZS86 | 547 |
| CEACAM4 | CYP2A13 | Q16696 | 544 |
| CEACAM4 | UNC79 | Q9P2D8 | 536 |
| CEACAM4 | CYP2A7 | P20853 | 513 |
| CEACAM4 | NALCN | Q8IZF0 | 500 |
| CEACAM4 | UNC80 | Q8N2C7 | 497 |
| CEACAM4 | A0A096LNM5 | A0A096LNM5 | 490 |
| CEACAM4 | PLA2G7 | Q13093 | 487 |
| CEACAM4 | SLC12A3 | P55017 | 444 |
| CEACAM4 | CYP2A6 | P00190 | 440 |
| CEACAM4 | IGDCC3 | Q8IVU1 | 400 |
| CEACAM4 | ADGRE5 | P48960 | 370 |
| CEACAM4 | CD177 | Q8N6Q3 | 367 |
| CEACAM4 | IGSF23 | A1L1A6 | 365 |
IntAct
Human interaction partners of CEACAM4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
2 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| FLT4 | physical association | 0.400 | 2 |
| PDCD1LG2 | physical association | 0.400 | 1 |
Disease & clinical
Genetic variants
Variant evidence for CEACAM4: 47 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 3 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 634):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:41621653 | donor_gain | 0.9900 | |
| 19:41626898–41626899 | donor_loss | 0.9900 | 5 |
| 19:41619396–41619397 | acceptor_loss | 0.9800 | 6 |
| 19:41620573–41620574 | donor_loss | 0.9800 | 5 |
| 19:41620628–41620629 | acceptor_loss | 0.9800 | 6 |
| 19:41620650 | acceptor_gain | 0.9800 | |
| 19:41619712–41619713 | acceptor_loss | 0.9700 | 6 |
| 19:41619668–41619669 | donor_loss | 0.9600 | 5 |
| 19:41619718 | acceptor_gain | 0.9600 | |
| 19:41619945 | donor_gain | 0.9600 |
AlphaMissense
180 missense substitutions predicted likely pathogenic (of 1,548 scored), across 76 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 |
|---|---|---|---|
| D116 | 8 | 0.806 | 0.896 |
| W67 | 7 | 0.939 | 0.984 |
| G70 | 6 | 0.777 | 0.893 |
| E99 | 6 | 0.741 | 0.912 |
| Y120 | 5 | 0.917 | 0.963 |
| G92 | 5 | 0.863 | 0.870 |
| F109 | 5 | 0.743 | 0.914 |
| G105 | 4 | 0.917 | 0.965 |
| G118 | 4 | 0.780 | 0.828 |
| S106 | 4 | 0.779 | 0.975 |
| N104 | 4 | 0.754 | 0.815 |
| Y65 | 4 | 0.750 | 0.922 |
| G159 | 4 | 0.742 | 0.801 |
| H68 | 4 | 0.722 | 0.881 |
| S96 | 4 | 0.690 | 0.697 |
| G48 | 4 | 0.685 | 0.833 |
| F36 | 4 | 0.659 | 0.661 |
| L107 | 3 | 0.903 | 0.960 |
| L122 | 3 | 0.882 | 0.954 |
| L53 | 3 | 0.866 | 0.918 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Disease associations
OMIM: gene MIM:619159 | disease phenotypes:
GWAS associations
2 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST004744_57 | Lung adenocarcinoma | 3e-7 |
| GCST007160_30 | Refractive astigmatism | 8e-6 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Aldehydes | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.