CEACAM8

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

Basic information

Region (hg38): 19:42580243-42595055

Previous symbols: [ "CGM6" ]

Links

ENSG00000124469 ∙ NCBI:1088 ∙ OMIM:615747 ∙ HGNC:1820 ∙ Uniprot:P31997 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CEACAM8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEACAM8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			32	3		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	3	0

Variants in CEACAM8

This is a list of pathogenic ClinVar variants found in the CEACAM8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-42583262-C-A		not specified	Uncertain significance (Oct 10, 2023)
19-42583262-C-T		not specified	Uncertain significance (Sep 20, 2023)
19-42583272-C-T		not specified	Likely benign (Sep 01, 2021)
19-42588797-C-T		not specified	Uncertain significance (Mar 24, 2023)
19-42588815-G-C		not specified	Uncertain significance (Oct 08, 2024)
19-42588819-C-T		not specified	Likely benign (Oct 21, 2024)
19-42588822-C-A		not specified	Uncertain significance (Jun 17, 2024)
19-42588825-G-C		not specified	Uncertain significance (Feb 12, 2025)
19-42588864-T-A		not specified	Uncertain significance (Nov 23, 2024)
19-42588874-T-C		not specified	Uncertain significance (Nov 20, 2024)
19-42588960-G-T		not specified	Uncertain significance (Nov 17, 2022)
19-42588982-T-C		not specified	Uncertain significance (Aug 30, 2024)
19-42588999-T-C		not specified	Uncertain significance (Nov 21, 2023)
19-42589000-A-C		not specified	Uncertain significance (Mar 06, 2023)
19-42589002-G-A		not specified	Uncertain significance (Jun 17, 2024)
19-42589005-T-A		not specified	Uncertain significance (Jun 01, 2023)
19-42589471-G-A		not specified	Uncertain significance (Jul 16, 2024)
19-42589498-G-A		not specified	Likely benign (Nov 07, 2022)
19-42589501-G-C		not specified	Uncertain significance (Mar 25, 2024)
19-42589520-C-T		not specified	Uncertain significance (Mar 22, 2023)
19-42589528-C-T		not specified	Uncertain significance (Aug 02, 2022)
19-42589603-G-A		not specified	Uncertain significance (Jul 14, 2021)
19-42589612-T-A		not specified	Uncertain significance (Jun 07, 2023)
19-42589648-G-A		not specified	Uncertain significance (Dec 07, 2024)
19-42589652-C-G		not specified	Uncertain significance (May 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEACAM8	protein_coding	protein_coding	ENST00000244336	5	14815

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.30e-7	0.559	125717	0	28	125745	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.565	220	198	1.11	0.0000104	2251
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.000168	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000197	0.000185
Middle Eastern	0.000168	0.000163
South Asian	0.0000825	0.0000653
Other	0.000163	0.000163

dbNSFP

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}.
• Pathway: Neutrophil degranulation;Extracellular matrix organization;Innate Immune System;Immune System;Fibronectin matrix formation;Cell surface interactions at the vascular wall;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.161

Intolerance Scores

• loftool: 0.934
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.38

Haploinsufficiency Scores

• pHI: 0.0507
• hipred: N
• hipred_score: 0.112
• ghis: 0.389

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.815

Gene Damage Prediction

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

Gene ontology

• Biological process: immune response;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;neutrophil degranulation;leukocyte migration
• Cellular component: extracellular space;plasma membrane;cell surface;anchored component of membrane;azurophil granule membrane;specific granule membrane;extracellular exosome;tertiary granule membrane
• Molecular function: protein binding;protein heterodimerization activity