CEACAM5

gene
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Also known as CD66e

Summary

CEACAM5 (CEA cell adhesion molecule 5, HGNC:1817) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM5 (P06731). Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression.

This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 1048 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 123 total
  • Druggable target: yes
  • MANE Select transcript: NM_004363

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1817
Approved symbolCEACAM5
NameCEA cell adhesion molecule 5
Location19q13.2
Locus typegene with protein product
StatusApproved
AliasesCD66e
Ensembl geneENSG00000105388
Ensembl biotypeprotein_coding
OMIM114890
Entrez1048

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 41 protein_coding, 2 retained_intron

ENST00000221992, ENST00000398599, ENST00000405816, ENST00000460121, ENST00000595113, ENST00000595403, ENST00000596606, ENST00000615021, ENST00000617332, ENST00000888511, ENST00000888512, ENST00000888513, ENST00000888514, ENST00000888515, ENST00000888516, ENST00000888517, ENST00000888518, ENST00000888519, ENST00000888520, ENST00000888521, ENST00000888522, ENST00000888523, ENST00000888524, ENST00000888525, ENST00000888526, ENST00000888527, ENST00000888528, ENST00000888529, ENST00000888530, ENST00000888531, ENST00000888532, ENST00000888533, ENST00000888534, ENST00000888535, ENST00000948421, ENST00000948422, ENST00000948423, ENST00000948424, ENST00000948425, ENST00000948426, ENST00000948427, ENST00000948428, ENST00000948429

RefSeq mRNA: 3 — MANE Select: NM_004363 NM_001291484, NM_001308398, NM_004363

CCDS: CCDS12584, CCDS77302

Canonical transcript exons

ENST00000221992 — 10 exons

ExonStartEnd
ENSE000008424834172092241721176
ENSE000010530434172723441727352
ENSE000019427234172918441730433
ENSE000024585114171497141715249
ENSE000024743634171745541717733
ENSE000025080934171565041715904
ENSE000025195994171812841718382
ENSE000025232654171993041720208
ENSE000030312584170862641708795
ENSE000035678164170968041710039

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 99.92.

FANTOM5 (CAGE): breadth broad, TPM avg 6.5749 / max 1910.3682, expressed in 230 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1760516.2128225
1760500.272953
1760520.089225

Top tissues by expression

278 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
colonic mucosaUBERON:000031799.92gold quality
ileal mucosaUBERON:000033199.92gold quality
mucosa of sigmoid colonUBERON:000499399.92gold quality
nasal cavity epitheliumUBERON:000538499.73gold quality
rectumUBERON:000105299.66gold quality
mucosa of transverse colonUBERON:000499199.49gold quality
esophagus squamous epitheliumUBERON:000692099.09gold quality
pharyngeal mucosaUBERON:000035599.07gold quality
tongue squamous epitheliumUBERON:000691998.56gold quality
vermiform appendixUBERON:000115498.49gold quality
lower esophagus mucosaUBERON:003583498.40gold quality
oral cavityUBERON:000016798.39gold quality
epithelium of esophagusUBERON:000197698.27gold quality
palpebral conjunctivaUBERON:000181297.87gold quality
tracheaUBERON:000312697.56gold quality
esophagus mucosaUBERON:000246996.74gold quality
caecumUBERON:000115395.98gold quality
squamous epitheliumUBERON:000691495.78gold quality
buccal mucosa cellCL:000233695.74gold quality
epithelium of nasopharynxUBERON:000195195.62gold quality
nasopharynxUBERON:000172895.61gold quality
cervix epitheliumUBERON:000480195.50gold quality
cervix squamous epitheliumUBERON:000692293.07gold quality
transverse colonUBERON:000115792.77gold quality
body of tongueUBERON:001187692.35gold quality
pancreatic ductal cellCL:000207992.04gold quality
nasal cavity mucosaUBERON:000182691.02gold quality
gingivaUBERON:000182890.49gold quality
gingival epitheliumUBERON:000194988.78gold quality
jejunal mucosaUBERON:000039988.60gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-MTAB-8410yes4593.03
E-GEOD-125970yes3798.88
E-CURD-114yes1034.74
E-GEOD-75688yes626.93
E-GEOD-86618no1689.41
E-ENAD-27no3.90
E-MTAB-4850no1.55
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, HIF1A, MYC, SP1, TBXT, TCF7, USF1, USF2

miRNA regulators (miRDB)

62 targeting CEACAM5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-1193100.0065.93529
HSA-MIR-223-3P99.9970.141140
HSA-MIR-3617-3P99.9867.86918
HSA-MIR-60799.9773.625593
HSA-MIR-6793-5P99.9765.95758
HSA-MIR-545-3P99.9570.742783
HSA-MIR-338-5P99.9272.342951
HSA-MIR-627-3P99.9071.423316
HSA-MIR-367199.9073.043897
HSA-MIR-368699.9070.532432
HSA-MIR-153-5P99.8973.866317
HSA-MIR-556-3P99.7468.751203
HSA-MIR-10393-3P99.7266.56961
HSA-MIR-6801-5P99.7266.50981
HSA-MIR-7154-5P99.6970.521900
HSA-MIR-561-3P99.6470.903647
HSA-MIR-4743-3P99.6268.122095
HSA-MIR-105-5P99.5469.242060
HSA-MIR-7853-5P99.5469.302055
HSA-MIR-513A-3P99.3970.633620
HSA-MIR-513C-3P99.3970.633620
HSA-MIR-6853-3P99.3670.791558
HSA-MIR-2115-3P99.3169.682026
HSA-MIR-504-3P99.3067.181745
HSA-MIR-4477B99.2370.491733
HSA-MIR-3606-3P99.1169.843254
HSA-MIR-3152-3P99.1066.35678
HSA-MIR-770299.0665.95698
HSA-MIR-520G-3P98.9167.381914
HSA-MIR-520H98.9167.381914

Literature-anchored findings (GeneRIF, showing 40)

  • Inhibition of carcinoembryonic antigen increases apoptotic rate of colon cancer cells and inhibits metastatic tumor growth (PMID:11964079)
  • Serum HCG beta, CA 72-4 and CEA are independent prognostic factors in colorectal cancer. (PMID:12237895)
  • white blood cells express a splice variant of CEA , which hinders detection of tumor cell cDNA in whole blood samples (PMID:12420218)
  • results suggest that CEA and CK 20 mRNA identification by RT-PCR appeared to be reliable and may be useful for early diagnosis in peritoneal dissemination of colon cancer (PMID:12636102)
  • value of this tumor marker regarding relapse, metastasis and death in resectable non-small cell lung cancer (PMID:14566828)
  • 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)
  • SB1a and CEA in the patches on the cell surface of human colon adenocarcinoma cells could be biologically important ligands for galectin-4 (PMID:15546874)
  • Heterophilic interactions of carcinoembryonic antigen and CEACAM1 inhibit killing by natural killer (NK) cells. The N-terminal domain of CEACAM1 is crucial but not sufficient for both CEACAM1-CEACAM1 homophilic and CEACAM1-CEA heterophilic interactions. (PMID:15905509)
  • CEA and CK19 expression was higher in lung cancer patients than in patients with benign lung diseases and healthy controls. (PMID:16324274)
  • significantly increased in transformed trophoblast of gestational trophoblastic diseases (PMID:16574224)
  • Intensive follow-up by serial assay of CEA and cytokeratins allows early detection of colorectal neoplasm recurrence. (PMID:16804977)
  • Enhanced induction of dendritic cell maturation and HLA-A*0201-restricted CEA-specific CD8(+) CTL response by exosomes derived from IL-18 gene-modified CEA-positive tumor cells. (PMID:17016692)
  • CEACAM6 expression is elevated in many solid tumors and may be a promising target for antibody-based therapy for cancer. (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)
  • TNM staging, preoperative CEA and CD44v6 were independent prognostic factors for rectal cancer patients with total mesorectal excision. (PMID:17589956)
  • findings suggest that CEA (CEACAM5) and CEACAM6 are major target genes for Smad3-mediated TGF-beta signaling. (PMID:17653079)
  • Results show that measurements of AFP, CEA and CA125 are more readily affected by long-term frozen storage compared with frequent freezing-thawing. (PMID:17852813)
  • CEA mRNA copy number, not positivity, was significantly associated with postoperative term of recurrent gastric cancer. (PMID:17936797)
  • The serum CEA level appears to be closely associated with the presence of EGFR gene mutations in patients with pulmonary adenocarcinomas. (PMID:17941001)
  • Cigarette smoking was associated with increased serum carcinoembryonic antigen (CEA) levels in a dose- and duration-dependent manner and association between serum CEA and carotid plaque was significant (PMID:17951321)
  • elevated level of CEA has a strong negative prognostic impact on survival in operated early stage of non-small cell lung cancer (PMID:18083270)
  • serum MMP-9, SCC-Ag and CEA were not significant for prognosis of esophageal cancer (PMID:18155162)
  • possibility of observing many clinical reactions could be shown for CEA652 (9) in cases where positive conversion was observed (PMID:18219853)
  • CEA and CD44v cooperate to mediate colon carcinoma cell adhesion to E- and L-selectin at elevated shear stresses. (PMID:18375392)
  • The levels of CEA in pleural effusion and serum of patients with lung cancer were much higher than those with benign lung disease. (PMID:18394347)
  • Serum samples were investigated for carcinoembryonic antigen (CEA), CA125 and MUC1, alpha-foetoprotein, neuron-specific enolase and CA19.9. (PMID:18609108)
  • mRNA expression of LUNX, CK19 and CEA genes in the regional lymph nodes of NSCLC was significantly higher than that in those of benign lung diseases. (PMID:18646695)
  • Elevated carcinoembryonic antigen is associated with recurrence after curative resection of colorectal cancer. (PMID:18846401)
  • Human eccrine sweat glands express CK7, CK8, CK14, CK18, CK19, CEA, EMA, Ki67, p63, EGF and EGFR. In skin, CEA can be used as a specific immunological marker of sweat glands. (PMID:19032382)
  • CK20 and CEA are expressed in non-macroscopically involved lymph nodes of colorectal cancer. (PMID:19074466)
  • CEA was a highly significant predictor of response to therapy and survival in both limited disease and extensive disease small cell lung cancer patients. Normal serum CEA level was associated with improved response rate. (PMID:19214813)
  • A CEA level </= 2.5 ng/ml might be a predictor not only of tumor response, as has been suggested before, but also of disease-free survival. (PMID:19259690)
  • Increased carcinoembryonic antigen level is associated with oral and salivary malignant tumors. (PMID:19322585)
  • The utility of the tumour markers carcinoembryonic antigen, cancer antigen 125, carbohydrate antigen 19-9, carbohydrate antigen 15-3, alpha-fetoprotein and human chorionic gonadotropin for the diagnosis solitary pulmonary nodules, was investigated. (PMID:19383238)
  • High CEA serum level is a risk factor for brain metastasis development and is associated with poor prognosis in patients with advanced NSCLC. (PMID:19386089)
  • the percentage of lung carcinoma patients remaining unclassifiable by TTF-1/TP63 was twice that of the five-antibody (TRIM29, CEACAM5, SLC7A5, MUC1, and CK5/6) test (PMID:19430419)
  • Ppreoperative CEA level was a very good predictor of the pathological stage in stage I non-small cell lung cancer. (PMID:19457896)
  • CEA expression in melanomas, dysplastic nevi \and primary superficial spreading melanoma was significantly increased (PMID:19461083)
  • The three markers (ER, Vim and CEA) and their respective panel expressions showed statistically significant (p < 0.05) frequency differences between endocervical adenocarcinomas and endometrial adenocarcinomas tumors. (PMID:19476621)
  • Data show that mice express human CEA, present epitopes solely through HLA-A2.1 molecules and constitute a unique in vivo animal model to study HLA-A2.1-restricted immune response of a human CEA-based vaccine. (PMID:19561534)

Cross-species orthologs

0 orthologs

Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), 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)

Protein

Protein identifiers

Cell adhesion molecule CEACAM5P06731 (reviewed: P06731)

Alternative names: Carcinoembryonic antigen, Carcinoembryonic antigen-related cell adhesion molecule 5, Meconium antigen 100

All UniProt accessions (6): P06731, A0A024R0K5, A0A087WYX0, M0QX98, M0R3J1, T2HUW8

UniProt curated annotations — full annotation on UniProt →

Function. Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression. Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6. Plays a role as an oncogene by promoting tumor progression; induces resistance to anoikis of colorectal carcinoma cells. (Microbial infection) Receptor for E.coli Dr adhesins. Binding of E.coli Dr adhesins leads to dissociation of the homodimer.

Subunit / interactions. Homodimer.

Subcellular location. Cell membrane. Apical cell membrane. Cell surface.

Tissue specificity. Expressed in columnar epithelial and goblet cells of the colon (at protein level). Found in adenocarcinomas of endodermally derived digestive system epithelium and fetal colon.

Post-translational modifications. Complex immunoreactive glycoprotein with a MW of 180 kDa comprising 60% carbohydrate.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

Isoforms (2)

UniProt IDNamesCanonical?
P06731-11yes
P06731-22

RefSeq proteins (3): NP_001278413, NP_001295327, NP_004354* (*=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 (98 total): glycosylation site 28, strand 21, mutagenesis site 14, domain 7, sequence variant 7, disulfide bond 6, turn 4, sequence conflict 3, helix 3, signal peptide 1, chain 1, lipid moiety-binding region 1, propeptide 1, splice variant 1

Structure

Experimental structures (PDB)

6 structures.

PDBMethodResolution (Å)
1E07SOLUTION SCATTERING0
2QSQX-RAY DIFFRACTION1.95
9U93ELECTRON MICROSCOPY2.4
2QSTX-RAY DIFFRACTION2.9
8BW0ELECTRON MICROSCOPY3.11
2VERSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P06731-F187.440.72

Antibody-complex structures (SAbDab): 18BW0

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): 676

Disulfide bonds (6): 167–215, 259–299, 345–393, 437–477, 523–571, 615–655

Glycosylation sites (28): 104, 115, 152, 182, 197, 204, 208, 246, 256, 274, 288, 292, 309, 330, 351, 360, 375, 432, 466, 480 …

Mutagenesis-validated functional residues (14):

PositionPhenotype
63no effect on dimerization. reduced affinity for e.coli dr adhesins.
63abolishes dimerization. reduced affinity for e.coli dr adhesins.
66abolishes dimerization.
68abolishes dimerization.
68no effect on dimerization.
69abolishes dimerization.
73abolishes dimerization.
74no effect on dimerization.
74abolishes dimerization.
78abolishes dimerization. reduced affinity for e.coli dr adhesins.
125abolishes dimerization. reduced affinity for e.coli dr adhesins.
129no effect on dimerization. reduced affinity for e.coli dr adhesins.
129abolishes dimerization. reduced affinity for e.coli dr adhesins.
133abolishes dimerization.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-163125Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-202733Cell surface interactions at the vascular wall
R-HSA-109582Hemostasis
R-HSA-392499Metabolism of proteins
R-HSA-597592Post-translational protein modification

MSigDB gene sets: 115 (showing top): GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOZGIT_ESR1_TARGETS_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOCC_CELL_SURFACE, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION, USF_C, GOBP_CELL_CELL_ADHESION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_NEGATIVE_REGULATION_OF_ANOIKIS

GO Biological Process (8): apoptotic process (GO:0006915), homophilic cell-cell adhesion (GO:0007156), heterophilic cell-cell adhesion (GO:0007157), negative regulation of myotube differentiation (GO:0010832), homotypic cell-cell adhesion (GO:0034109), negative regulation of apoptotic process (GO:0043066), negative regulation of anoikis (GO:2000811), cell adhesion (GO:0007155)

GO Molecular Function (4): GPI anchor binding (GO:0034235), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), extracellular exosome (GO:0070062), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Post-translational protein modification1
Hemostasis1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cell-cell adhesion3
membrane2
plasma membrane region2
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
regulation of myotube differentiation1
myotube differentiation1
negative regulation of striated muscle cell differentiation1
apoptotic process1
regulation of apoptotic process1
negative regulation of programmed cell death1
negative regulation of apoptotic process1
anoikis1
regulation of anoikis1
cellular process1
phospholipid binding1
glycolipid binding1
protein binding1
identical protein binding1
protein dimerization activity1
binding1
cell periphery1
basal plasma membrane1
apical part of cell1
extracellular vesicle1
leaflet of membrane bilayer1

Protein interactions and networks

STRING

2316 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CEACAM5AFPP02771941
CEACAM5MUC1P13931922
CEACAM5ENO2P09104919
CEACAM5CD209Q9NNX6887
CEACAM5KRT7P08729883
CEACAM5CEACAM1P13688880
CEACAM5KRT19P08727871
CEACAM5KRT20P35900847
CEACAM5KLK3P07288821
CEACAM5LIAT1Q6ZQX7788
CEACAM5CRPP02741769
CEACAM5ERBB2P04626764
CEACAM5KRT5P13647753
CEACAM5EPCAMP16422746
CEACAM5ALBP02768728
CEACAM5GPTP24298728

IntAct

29 interactions, top by confidence:

ABTypeScore
CEACAM5CEACAM5psi-mi:“MI:0407”(direct interaction)0.760
CEACAM5CEACAM1psi-mi:“MI:0915”(physical association)0.610
CEACAM1CEACAM5psi-mi:“MI:0407”(direct interaction)0.610
SCEACAM5psi-mi:“MI:0915”(physical association)0.520
CEACAM5Spsi-mi:“MI:0915”(physical association)0.520
CEACAM5CD8Apsi-mi:“MI:0407”(direct interaction)0.440
CD1DCEACAM5psi-mi:“MI:0407”(direct interaction)0.440
draECEACAM5psi-mi:“MI:0407”(direct interaction)0.440
CEACAM5psi-mi:“MI:0407”(direct interaction)0.440
CEACAM5psi-mi:“MI:0407”(direct interaction)0.440
SELECEACAM5psi-mi:“MI:0915”(physical association)0.400
CEACAM6CEACAM5psi-mi:“MI:0915”(physical association)0.400
CEACAM5afaE3psi-mi:“MI:0915”(physical association)0.400
UQCC2CEACAM5psi-mi:“MI:0915”(physical association)0.370
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
FNDC5A2ML1psi-mi:“MI:0914”(association)0.350

BioGRID (20): EWSR1 (Two-hybrid), CEACAM5 (Affinity Capture-MS), CEACAM5 (Reconstituted Complex), CEACAM5 (Affinity Capture-Western), S (Affinity Capture-Western), Hnrnpm (Two-hybrid), CEACAM5 (Affinity Capture-Western), CEACAM5 (Proximity Label-MS), CEACAM5 (Affinity Capture-MS), CEACAM5 (Affinity Capture-MS), CEACAM5 (Affinity Capture-Western), CEACAM5 (Affinity Capture-MS), CEACAM5 (Negative Genetic), CEACAM5 (Affinity Capture-MS), CEACAM5 (Co-fractionation)

ESM2 similar proteins: A0A0B4J2E0, D3ZQE1, E9QA28, O00478, O00481, O75019, O75871, P01733, P06731, P0C191, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, P59901, Q00887, Q00888, Q00889, Q13046, Q13410, Q14002, Q15238, Q16557, Q28110, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q6PI73, Q810J1, Q863H2, Q8C567, Q8MJZ2, Q8N149, Q8N6C8

Diamond homologs: A0A0B4J1L0, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q13046, Q14002, Q15238, Q16557, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q810J1, Q925P2, Q9D2Z1, Q9UQ72, Q9UQ74, A0A8M2B818, B0JYH6, B4KPU0, P15151, P20273, P32506, P32507, Q15223, Q5FWR8, Q92692

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

123 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance90
Likely benign7
Benign16

Top pathogenic / likely-pathogenic (0)

SpliceAI

1645 predictions. Top by Δscore:

VariantEffectΔscore
19:41710040:G:GGdonor_gain1.0000
19:41719926:ACAGC:Aacceptor_gain1.0000
19:41719929:GC:Gacceptor_gain1.0000
19:41719929:GCGGA:Gacceptor_gain1.0000
19:41727218:ATGAC:Aacceptor_gain1.0000
19:41727219:T:Gacceptor_gain1.0000
19:41708734:G:GTdonor_gain0.9900
19:41708802:G:GTdonor_gain0.9900
19:41708803:G:Tdonor_gain0.9900
19:41709678:A:ACacceptor_loss0.9900
19:41709678:A:AGacceptor_gain0.9900
19:41709679:G:GAacceptor_gain0.9900
19:41709679:G:GCacceptor_loss0.9900
19:41709679:G:GGacceptor_gain0.9900
19:41709679:G:Tacceptor_loss0.9900
19:41709679:GCCT:Gacceptor_gain0.9900
19:41709679:GCCTC:Gacceptor_gain0.9900
19:41710037:ACCGT:Adonor_loss0.9900
19:41710038:CCGT:Cdonor_loss0.9900
19:41710039:CG:Cdonor_loss0.9900
19:41710039:CGT:Cdonor_loss0.9900
19:41710040:G:GCdonor_loss0.9900
19:41710041:T:Gdonor_loss0.9900
19:41710042:G:GAdonor_loss0.9900
19:41710043:A:AAdonor_loss0.9900
19:41714967:ACAGC:Aacceptor_gain0.9900
19:41714968:C:Gacceptor_gain0.9900
19:41714969:A:AGacceptor_gain0.9900
19:41714969:AGC:Aacceptor_gain0.9900
19:41714969:AGCG:Aacceptor_gain0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000204119 (19:41709798 T>A,C), RS1000562935 (19:41722130 G>A), RS1000571883 (19:41716346 T>C), RS1001088272 (19:41710718 C>T), RS1001236321 (19:41725181 A>G), RS1001477196 (19:41713464 T>C), RS1001515290 (19:41721802 G>T), RS1001604103 (19:41730901 A>G), RS1001935848 (19:41729475 C>A,T), RS1002050948 (19:41729873 G>A,C), RS1002312459 (19:41708219 C>T), RS1002787923 (19:41726421 A>G), RS1002972513 (19:41710581 C>A), RS1003270386 (19:41710247 G>T), RS1003319296 (19:41709480 G>T)

Disease associations

OMIM: gene MIM:114890 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

StudyTraitp-value
GCST004735_30Epstein-Barr virus copy number in lymphoblastoid cell lines2.000000e-06
GCST009650_10Serum carcinoembryonic antigen levels7.000000e-09
GCST009650_4Serum carcinoembryonic antigen levels5.000000e-201
GCST009650_7Serum carcinoembryonic antigen levels4.000000e-20
GCST009650_8Serum carcinoembryonic antigen levels2.000000e-18

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005760serum carcinoembryonic antigen measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712881 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Estradioldecreases expression, affects cotreatment, increases expression3
sodium arsenitedecreases expression, increases expression2
Air Pollutantsincreases expression, increases abundance2
Benzo(a)pyreneaffects methylation, affects cotreatment, affects expression2
Silicon Dioxidedecreases expression2
Smokeincreases abundance, increases expression2
Tobacco Smoke Pollutionaffects expression, increases expression2
bisphenol Aincreases expression1
beta-lapachoneincreases expression1
tetrathiomolybdatedecreases expression1
tri-o-cresyl phosphateincreases expression1
1,2,5,6-dibenzanthraceneincreases expression1
1-methylphenanthreneaffects cotreatment, affects expression1
dibenzo(a,l)pyreneaffects cotreatment, affects expression1
NSC 689534increases expression1
(+)-JQ1 compounddecreases expression1
Zoledronic Acidincreases expression1
Vorinostataffects cotreatment, increases expression1
Diazinonincreases methylation1
Drugs, Chinese Herbalincreases expression1
Hydrogen Peroxideaffects expression1
Leaddecreases expression1
Methotrexateincreases expression1
Nickeldecreases expression1
Polycyclic Aromatic Hydrocarbonsaffects expression1
Progesteroneaffects cotreatment, decreases expression1
Quercetindecreases expression1
Tetrachlorodibenzodioxinaffects cotreatment, increases expression1
Tretinoinincreases expression1
Isotretinoinaffects cotreatment, increases expression1

Cellosaurus cell lines

12 cell lines: 9 cancer cell line, 2 transformed cell line, 1 spontaneously immortalized cell line

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

CellosaurusNameCategorySex
CVCL_5I36MC-38-CEA-1Cancer cell lineFemale
CVCL_5I37MC-38-CEA-2Cancer cell lineFemale
CVCL_B8DKAbcam HCT 116 CEACAM5 KOCancer cell lineMale
CVCL_B8U2Abcam MCF-7 CEACAM5 KOCancer cell lineFemale
CVCL_B9FTAbcam A-549 CEACAM5 KOCancer cell lineMale
CVCL_C0EJHEK293-CEACAM5-FcTransformed cell lineFemale
CVCL_C9CQMIP-CEA clone 17Cancer cell lineMale
CVCL_C9CRMIP-CEA clone 6Cancer cell lineMale
CVCL_C9CSMIP-CEA clone 8Cancer cell lineMale
CVCL_E6PWGenomeditech CHO-K1 H_CEACAM5(CEA)Spontaneously immortalized cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Epstein-Barr virus infection