CEACAM20

protein-coding

CEA cell adhesion molecule 20, the group of I-set domain containing|CEA cell adhesion molecule family

Gene summary

Predicted to enable protein tyrosine kinase binding activity. Predicted to be involved in regulation of immune system process and signal transduction. Predicted to be located in apical plasma membrane and microvillus membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001102597.3

Inheritance

—

ClinVar variants

U:74B:4

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr19:44,501,677-44,529,788

External References & Databases

Ensembl (ENSG00000273777)

Transcript & Mutation Effects

hg38 • Region Span ~28.1 kb

Loading mutation effect viewer...

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 CEACAM20 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 78

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001102597.3. 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			74 clinvar	4 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	4	0	78

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001102597.3	RefSeq	NP_001096067.2	12	MANE Select
ENST00000614924.5	Ensembl	ENSP00000481937.1	12	MANE Select
NM_001102598.3	RefSeq	NP_001096068.2	10	Standard
NM_001102599.3	RefSeq	NP_001096069.2	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of cytokine production
immune system process
response to bacterium

Cellular Component

integral component of membrane
apical plasma membrane
microvillus membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response. {ECO:0000250|UniProtKB:Q9D2Z1}.;