CEACAM20

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

Basic information

Region (hg38): 19:44501677-44529788

Links

ENSG00000273777

∙ NCBI:125931 ∙ ∙ HGNC:24879 ∙ Uniprot:Q6UY09 ∙ 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 CEACAM20 gene.

not_specified (68 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEACAM20 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001102597.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			64 clinvar	4 clinvar		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

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}.;

Haploinsufficiency Scores

pHI: 0.0885
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name: Ceacam20
Phenotype

Gene ontology

Biological process: positive regulation of cytokine production;immune system process;response to bacterium
Cellular component: integral component of membrane;apical plasma membrane;microvillus membrane
Molecular function