CEACAM8

protein-coding

CEA cell adhesion molecule 8, the group of CEA cell adhesion molecule family|V-set domain containing|CD molecules

Gene summary

Enables protein heterodimerization activity. Involved in heterophilic cell-cell adhesion. Located in cell surface and obsolete extracellular space. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

CGM6

MANE transcript

NM_001816.4

Inheritance

—

ClinVar variants

U:58B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr19:42,580,243-42,595,055

External References & Databases

Ensembl (ENSG00000124469)

Transcript & Mutation Effects

hg38 • Region Span ~14.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CEACAM8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 61

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001816.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			57 clinvar	5 clinvar		62
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	5	0	63

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001816.4	RefSeq	NP_001807.2	5	MANE Select
ENST00000244336.10	Ensembl	ENSP00000244336.5	5	MANE Select
ENST00000599005.1	Ensembl	ENSP00000472166.1	2	Standard
ENST00000599005.2	Ensembl	ENSP00000472166.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Extracellular matrix organization
Innate Immune System
Immune System
Fibronectin matrix formation

Biological Process

immune response
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
neutrophil degranulation
leukocyte migration

Molecular Function

protein binding
protein heterodimerization activity

Cellular Component

extracellular space
plasma membrane
cell surface
anchored component of membrane
azurophil granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000244336
Coding exons: 5
Length: 14815
Individuals with no LoFs: 125717
Homozygous LoFs: 0
Heterozygous LoFs: 28
Defined: 125745
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.565	220	198	1.11	0.0000104	2251
Missense (PolyPhen)		55	46.595	1.1804		642
Synonymous	-0.582	83	76.5	1.08	0.00000412	739
Loss of Function	0.950	12	16.1	0.745	9.20e-7	157

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00020	0.00018	rare
South Asian	0.000083	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner (PubMed:8776764, PubMed:2022629, PubMed:11590190). Mediates heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:8776764, PubMed:2022629, PubMed:11590190). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). {ECO:0000269|PubMed:11590190, ECO:0000269|PubMed:2022629, ECO:0000269|PubMed:8776764}.;

Recessive Scores

pRec: 0.161

Intolerance Scores

LoFtool: 0.934
RVIS EVS: 0.22
RVIS percentile EVS: 68.38

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.815

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium