CEACAM7

Summary

CEACAM7 (CEA cell adhesion molecule 7, HGNC:1819) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM7 (Q14002).

This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 1087 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• GTEx eGene: eQTL in 7 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.37 (unconstrained)
• MANE Select transcript: NM_001291485

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1819
Approved symbol	CEACAM7
Name	CEA cell adhesion molecule 7
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	CEA
Ensembl gene	ENSG00000007306
Ensembl biotype	protein_coding
OMIM	619160
Entrez	1087

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000401731

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 5: 1

ENST00000401731, ENST00000006724, ENST00000599715, ENST00000602225, ENST00000869051, ENST00000869052, ENST00000869053, ENST00000869054, ENST00000869055, ENST00000869056, ENST00000869057, ENST00000869058, ENST00000869059, ENST00000869060, ENST00000869061, ENST00000948635, ENST00000994563, ENST00000994564, ENST00001022527, ENST00001022533, ENST00001134003

RefSeq mRNA: 2 — MANE Select: NM_001291485 NM_001291485, NM_006890

CCDS: CCDS12583

Canonical transcript exons

ENST00000401731 — 5 exons

Exon	Start	End
ENSE00000842466	41677376	41677503
ENSE00001555472	41688102	41688270
ENSE00001560913	41673303	41674739
ENSE00002517916	41683785	41684063
ENSE00003495567	41686859	41687221

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 99.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9852 / max 1201.3699, expressed in 35 samples.

Highest expression (Bgee): mucosa of transverse colon, rectum, colonic mucosa, mucosa of sigmoid colon, ileal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CEACAM7 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 7 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

7 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Mucosa	eqtl	7.3e-34	-0.38	19:41675017:C:G
Skin Sun Exposed Lower leg	eqtl	2.6e-23	+0.42	19:41642531:C:A
Skin Not Sun Exposed Suprapubic	eqtl	4.3e-15	+0.39	19:41654540:T:TA
Colon Transverse	eqtl	9.6e-06	-0.15	19:41662744:T:C
Pancreas	eqtl	4.9e-04	-0.27	19:41685453:T:C
Whole Blood	eqtl	7.8e-03	+0.45	19:40774896:G:A
Prostate	eqtl	1.8e-02	+0.41	19:41247729:G:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
181085	0.8573	35
181084	0.1279	12

Top tissues by expression

showing 100 of 267 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	99.62	gold quality
rectum	UBERON:0001052	99.61	gold quality
colonic mucosa	UBERON:0000317	99.32	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.17	gold quality
ileal mucosa	UBERON:0000331	93.00	gold quality
vermiform appendix	UBERON:0001154	92.61	gold quality
transverse colon	UBERON:0001157	91.47	gold quality
islet of Langerhans	UBERON:0000006	89.42	gold quality
lower esophagus mucosa	UBERON:0035834	89.37	gold quality
gall bladder	UBERON:0002110	88.67	gold quality
esophagus mucosa	UBERON:0002469	85.96	gold quality
caecum	UBERON:0001153	85.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.95	gold quality
diaphragm	UBERON:0001103	79.56	gold quality
palpebral conjunctiva	UBERON:0001812	79.55	gold quality
large intestine	UBERON:0000059	79.13	gold quality
colon	UBERON:0001155	78.37	gold quality
vagina	UBERON:0000996	77.96	gold quality
cervix epithelium	UBERON:0004801	77.53	gold quality
pancreatic ductal cell	CL:0002079	77.32	silver quality
epithelium of esophagus	UBERON:0001976	76.26	gold quality
oral cavity	UBERON:0000167	75.90	gold quality
esophagus squamous epithelium	UBERON:0006920	75.86	gold quality
colonic epithelium	UBERON:0000397	75.23	gold quality
cervix squamous epithelium	UBERON:0006922	73.79	gold quality
epithelial cell of pancreas	CL:0000083	71.26	silver quality
olfactory bulb	UBERON:0002264	71.09	gold quality
pancreas	UBERON:0001264	70.93	gold quality
squamous epithelium	UBERON:0006914	70.58	gold quality
intestine	UBERON:0000160	70.33	gold quality
pharyngeal mucosa	UBERON:0000355	70.21	gold quality
mucosa of urinary bladder	UBERON:0001259	70.14	gold quality
type B pancreatic cell	CL:0000169	67.40	gold quality
hair follicle	UBERON:0002073	65.94	gold quality
esophagus	UBERON:0001043	65.21	gold quality
uterine cervix	UBERON:0000002	64.11	gold quality
oviduct epithelium	UBERON:0004804	63.85	gold quality
body of pancreas	UBERON:0001150	63.27	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	62.62	gold quality
tongue squamous epithelium	UBERON:0006919	62.43	gold quality
ectocervix	UBERON:0012249	61.17	gold quality
jejunal mucosa	UBERON:0000399	60.30	gold quality
tonsil	UBERON:0002372	59.87	gold quality
decidua	UBERON:0002450	58.52	gold quality
gluteal muscle	UBERON:0002000	58.47	gold quality
quadriceps femoris	UBERON:0001377	58.33	gold quality
triceps brachii	UBERON:0001509	58.29	gold quality
tongue	UBERON:0001723	58.28	silver quality
smooth muscle tissue	UBERON:0001135	58.19	gold quality
upper arm skin	UBERON:0004263	58.13	gold quality
vastus lateralis	UBERON:0001379	58.12	gold quality
skin of abdomen	UBERON:0001416	57.99	gold quality
mucosa of paranasal sinus	UBERON:0005030	57.68	gold quality
duodenum	UBERON:0002114	57.48	gold quality
amniotic fluid	UBERON:0000173	57.30	gold quality
epithelium of nasopharynx	UBERON:0001951	57.04	gold quality
gingiva	UBERON:0001828	56.84	gold quality
urinary bladder	UBERON:0001255	56.50	gold quality
mammary duct	UBERON:0001765	56.46	gold quality
epithelium of mammary gland	UBERON:0003244	56.10	gold quality
muscle layer of sigmoid colon	UBERON:0035805	56.05	gold quality
zone of skin	UBERON:0000014	55.68	gold quality
skin of leg	UBERON:0001511	55.30	gold quality
right coronary artery	UBERON:0001625	55.16	gold quality
jejunum	UBERON:0002115	54.64	gold quality
thymus	UBERON:0002370	53.84	gold quality
superior surface of tongue	UBERON:0007371	53.34	gold quality
mouth mucosa	UBERON:0003729	52.97	gold quality
minor salivary gland	UBERON:0001830	52.84	gold quality
endothelial cell	CL:0000115	52.81	gold quality
deltoid	UBERON:0001476	52.78	gold quality
gingival epithelium	UBERON:0001949	52.63	gold quality
muscle tissue	UBERON:0002385	52.22	gold quality
fallopian tube	UBERON:0003889	52.21	gold quality
substantia nigra pars reticulata	UBERON:0001966	52.15	gold quality
Brodmann (1909) area 46	UBERON:0006483	51.77	gold quality
heart right ventricle	UBERON:0002080	51.76	gold quality
upper leg skin	UBERON:0004262	51.76	gold quality
saliva-secreting gland	UBERON:0001044	51.28	gold quality
orbitofrontal cortex	UBERON:0004167	50.54	gold quality
kidney epithelium	UBERON:0004819	50.25	gold quality
myocardium	UBERON:0002349	50.22	gold quality
CA1 field of hippocampus	UBERON:0003881	50.18	gold quality
substantia nigra pars compacta	UBERON:0001965	49.96	gold quality
nasal cavity mucosa	UBERON:0001826	49.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	49.56	gold quality
cardiac muscle of right atrium	UBERON:0003379	49.29	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
bone marrow	UBERON:0002371	49.12	gold quality
skin of hip	UBERON:0001554	48.97	silver quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
biceps brachii	UBERON:0001507	48.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	48.07	gold quality
inferior olivary complex	UBERON:0002127	47.56	gold quality
nephron tubule	UBERON:0001231	47.52	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
urethra	UBERON:0000057	46.99	silver quality
renal glomerulus	UBERON:0000074	46.99	gold quality
metanephric glomerulus	UBERON:0004736	46.96	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	3529.05
E-GEOD-125970	yes	2283.47
E-ANND-3	yes	13.54

HPA expression

RNA tissue specificity: Tissue enriched

31 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Rectum	tissue	612.7	medium
Colon	tissue	559.1	medium
Appendix	tissue	67.5	medium
Esophagus	tissue	49.4	not detected
Gallbladder	tissue	37.0	not detected
Vagina	tissue	34.4	not detected
Urinary bladder	tissue	21.9	not detected
Tonsil	tissue	11.3	not detected
Smooth muscle	tissue	5.3	not detected
Stomach 1	tissue	1.9	low
Pancreas	tissue	1.4	not detected
Skin 1	tissue	1.3	low
Seminal vesicle	tissue	0.7	low
Cervix	tissue	0.6	not detected
Adipose tissue	tissue	0.5	not detected
Duodenum	tissue	0.5	low
Kidney	tissue	0.4	medium
Fallopian tube	tissue	0.4	not detected
Breast	tissue	0.3	medium
Endometrium 1	tissue	0.3	not detected
Spleen	tissue	0.2	not detected
Testis	tissue	0.1	not detected
Salivary gland	tissue	0.1	low
Skeletal muscle	tissue	0.1	not detected
Prostate	tissue	0.1	not detected
Bone marrow	tissue	0.1	not detected
Heart muscle	tissue	0.0	low
Parathyroid gland	tissue	0.0	medium
Epididymis	tissue	0.0	medium
Placenta	tissue	0.0	low
Small intestine	tissue	0.0	low

Brain sub-regions (HPA Brain Atlas): detected in 2; highest nTPM — Endometrium 2 (-1.0), Stomach 2 (-1.0).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI2

miRNA regulators (miRDB)

Targeting CEACAM7 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 59 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-4504	99.10	69.14	1328

Functional genomics

gnomAD constraint: pLI 2.22e-08, LOEUF 1.37, missense Z 0.264 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000401731 — one region, missense o/e 0.98.

Literature-anchored findings (GeneRIF, showing 6)

• CGM2 RT-PCR assay provides no specific prognostic information and cannot be used as a decision criterion for adjuvant therapy after colorectal cancer surgery. (PMID:16627067)
• CEACAM-7 expression is significantly decreased in rectal cancer; a potential tumor marker (PMID:20004437)
• High CEACAM7 is associated with gastric carcinoma. (PMID:22195770)
• crystal structure of the N-terminal dimerization domain of CEACAM has been determined at 1.47 A resolution (PMID:26323304)
• CEACAM7 expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
• CEACAM7 polymorphisms predict genetic predisposition to mortality in post-surgical septic shock patients. (PMID:34657826)

Cross-species orthologs

36 orthologs

Organism	Symbol	Gene ID
mus_musculus	Psg18	ENSMUSG00000003505
mus_musculus	Psg17	ENSMUSG00000004540
mus_musculus	Psg19	ENSMUSG00000004542
mus_musculus	Ceacam5	ENSMUSG00000008789
mus_musculus	Psg29	ENSMUSG00000023159
mus_musculus	Ceacam14	ENSMUSG00000023185
mus_musculus	Ceacam12	ENSMUSG00000030366
mus_musculus	Ceacam11	ENSMUSG00000030368
mus_musculus	Psg28	ENSMUSG00000030373
mus_musculus	Psg22	ENSMUSG00000044903
mus_musculus	Ceacam3	ENSMUSG00000053228
mus_musculus	Ceacam10	ENSMUSG00000054169
mus_musculus	Ceacam2	ENSMUSG00000054385
mus_musculus	Ceacam13	ENSMUSG00000057195
mus_musculus	Psg20	ENSMUSG00000063305
mus_musculus	Psg16	ENSMUSG00000066760
mus_musculus	Psg21	ENSMUSG00000070796
mus_musculus	Psg27	ENSMUSG00000070797
mus_musculus	Psg25	ENSMUSG00000070798
mus_musculus	Psg26	ENSMUSG00000070799
mus_musculus	Ceacam1	ENSMUSG00000074272
mus_musculus	Psg23	ENSMUSG00000074359
mus_musculus	Ceacam23	ENSMUSG00000078793
rattus_norvegicus	LOC102557244	ENSRNOG00000017519
rattus_norvegicus	Ceacam11	ENSRNOG00000017620
rattus_norvegicus	Ceacam1	ENSRNOG00000020578
rattus_norvegicus	Psgb1	ENSRNOG00000027288
rattus_norvegicus	Ceacam3	ENSRNOG00000027607
rattus_norvegicus	Psg29	ENSRNOG00000029485
rattus_norvegicus	LOC120098290	ENSRNOG00000034000
rattus_norvegicus	Psg19	ENSRNOG00000038101
rattus_norvegicus	Ceacam12	ENSRNOG00000042158
rattus_norvegicus	Ceacam4	ENSRNOG00000046222
rattus_norvegicus	Psg16	ENSRNOG00000062379
rattus_norvegicus	Cgm4	ENSRNOG00000062787
rattus_norvegicus	LOC102557319	ENSRNOG00000071114

Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1347251) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 51 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased circulating insulin level	2
decreased mean corpuscular hemoglobin concentration	2
decreased susceptibility to Coronaviridae infection	2
increased leukocyte cell number	1
abnormal colon morphology	1
obese	1
polyphagia	1
increased circulating HDL cholesterol level	1
decreased litter size	1
abnormal coat/hair pigmentation	1
abnormal glucose homeostasis	1
decreased susceptibility to viral infection	1
abnormal T cell physiology	1
increased mean platelet volume	1
decreased circulating triglyceride level	1
abnormal cytokine secretion	1
decreased circulating chloride level	1
increased insulin secretion	1
increased lean body mass	1
increased incidence of tumors by chemical induction	1
abnormal vascular wound healing	1
decreased energy expenditure	1
decreased T cell number	1
decreased T cell proliferation	1
decreased circulating cholesterol level	1

+26 more (showing top 25).

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
CEACAM4	protein-coding	1089
CEACAM3	protein-coding	1084
CEACAM6	protein-coding	4680
CEACAM5	protein-coding	1048

Protein

Protein identifiers

Cell adhesion molecule CEACAM7 — Q14002 (reviewed: Q14002)

Alternative names: Carcinoembryonic antigen CGM2, Carcinoembryonic antigen-related cell adhesion molecule 7

All UniProt accessions (2): Q14002, A0A0A0MTT6

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Homodimer.

Subcellular location. Cell membrane. Apical cell membrane.

Tissue specificity. Expressed in columnar epithelial cells of the colon (at protein level). Strongly down-regulated in colonic adenocarcinomas.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14002-1	2a	yes
Q14002-2	2b

RefSeq proteins (2): NP_001278414, NP_008821 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050831	CEA_cell_adhesion	Family

Pfam: PF07686, PF13927

UniProt features (33 total): strand 8, glycosylation site 7, sequence variant 3, sequence conflict 3, helix 3, domain 2, signal peptide 1, chain 1, disulfide bond 1, splice variant 1, propeptide 1, turn 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
4Y89	Crystal structure of the N-terminal domain of CEACAM7	X-RAY DIFFRACTION	1.47

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14002-F1	84.92	0.69

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): plasma membrane; cytosol

Antibody reliability (HPA): IH enhanced · IF supported

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1)

Type	Positions
Gpi-anchor amidated serine	242

Disulfide bonds (1)

Type	Positions
Disulfide bond	168–216

Glycosylation sites (7)

Type	Positions
N-linked (glcnac…) asparagine	174, 183, 198, 57, 85, 105, 112

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins	curated
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—

MSigDB gene sets: 88 (showing top): GOCC_CELL_SURFACE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOCC_APICAL_PLASMA_MEMBRANE, MODULE_113, SABATES_COLORECTAL_ADENOMA_DN, GOCC_APICAL_PART_OF_CELL, GOCC_SIDE_OF_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOMF_KINASE_BINDING, GOMF_PROTEIN_TYROSINE_KINASE_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, RICKMAN_HEAD_AND_NECK_CANCER_E, BOSCO_EPITHELIAL_DIFFERENTIATION_MODULE, REACTOME_POST_TRANSLATIONAL_MODIFICATION_SYNTHESIS_OF_GPI_ANCHORED_PROTEINS

GO Biological Process (2): regulation of immune system process (GO:0002682), signal transduction (GO:0007165)

GO Molecular Function (1): protein tyrosine kinase binding (GO:1990782)

GO Cellular Component (5): extracellular region (GO:0005576), plasma membrane (GO:0005886), cell surface (GO:0009986), apical plasma membrane (GO:0016324), side of membrane (GO:0098552)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

14 GO namespaces:

Category	Terms
cellular anatomical structure	3
membrane	2
immune system process	1
regulation of biological process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
protein kinase binding	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
leaflet of membrane bilayer	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
apical plasma membrane	CC	direct assay
plasma membrane	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 490 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEACAM7	CYP2A13	Q16696	560
CEACAM7	CYP2A7	P20853	539
CEACAM7	CYP2A6	P00190	451
CEACAM7	ZNF574	Q6ZN55	426
CEACAM7	CD177	Q8N6Q3	396
CEACAM7	CEACAM19	Q7Z692	386
CEACAM7	GRB14	Q14449	370
CEACAM7	BCL10	O95999	365
CEACAM7	CARD9	Q9H257	363
CEACAM7	A1BG	P04217	360
CEACAM7	TCN1	P20061	310
CEACAM7	DSC2	Q02487	306
CEACAM7	OTOP2	Q7RTS6	303
CEACAM7	GUCA2A	Q02747	300
CEACAM7	ZNF526	Q8TF50	299

IntAct

Human interaction partners of CEACAM7 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

4 partners by confidence:

Partner	Interaction type	MIscore	Records
CEACAM1	physical association	0.400	1
CEACAM6	physical association	0.400	1
GPC1	physical association	0.400	1
PBRM1	physical association	0.400	1

BioGRID (7 interactions; top human partners by supporting records): CEACAM1 (Reconstituted Complex), CEACAM6 (Reconstituted Complex), GPC1 (Affinity Capture-MS), PBRM1 (Affinity Capture-MS), PSG3 (Negative Genetic), PSG6 (Negative Genetic)

Disease & clinical

Genetic variants

Variant evidence for CEACAM7: 47 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	3
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 360):

Position(s)	Effect	Δscore	Sites
19:41674761	acceptor_gain	1.0000
19:41684066	acceptor_gain	0.9900
19:41688100–41688101	donor_loss	0.9900	5
19:41683780	donor_loss	0.9800	2
19:41683783–41683784	donor_loss	0.9800	5
19:41686854	donor_loss	0.9800
19:41686857–41686858	donor_loss	0.9800	5
19:41687222–41687223	acceptor_loss	0.9800	6
19:41677509	acceptor_gain	0.9700
19:41683779–41683780	donor_loss	0.9700	2

AlphaMissense

283 missense substitutions predicted likely pathogenic (of 1,724 scored), across 99 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
D117	8	0.857	0.924
C168	7	0.963	0.982
W67	7	0.956	0.992
C216	7	0.944	0.983
W179	7	0.919	0.982
D210	7	0.704	0.790
S227	6	0.935	0.979
G93	6	0.934	0.970
G70	6	0.862	0.938
P42	6	0.735	0.828
Y121	5	0.910	0.980
F139	5	0.898	0.951
Y68	5	0.896	0.960
Y214	5	0.878	0.963
P148	5	0.772	0.912
K69	5	0.768	0.923
G48	5	0.743	0.872
G81	4	0.903	0.931
G106	4	0.897	0.949
I79	4	0.856	0.939

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Colon Adenocarcinoma, Rectum Adenocarcinoma)

Disease associations

OMIM: gene MIM:619160 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression	2
ethyl-p-hydroxybenzoate	decreases expression	1
sodium arsenite	decreases expression	1
1,2-dielaidoylphosphatidylethanolamine	decreases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Estradiol	decreases expression	1
Malathion	decreases expression	1
Ozone	increases abundance, increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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