CEACAM20

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

Basic information

Region (hg38): 19:44501676-44529788

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.

• Inborn genetic diseases (22 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.

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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in CEACAM20

This is a list of pathogenic ClinVar variants found in the CEACAM20 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44511049-T-A		not specified	Uncertain significance (Mar 17, 2023)
19-44511100-G-A		not specified	Uncertain significance (Dec 19, 2023)
19-44511662-G-A		not specified	Uncertain significance (Jul 11, 2023)
19-44512066-G-A		not specified	Uncertain significance (May 17, 2023)
19-44513180-A-C		not specified	Uncertain significance (Dec 19, 2023)
19-44516975-C-T		not specified	Uncertain significance (Mar 05, 2024)
19-44517021-C-T		not specified	Uncertain significance (Jun 16, 2023)
19-44517098-C-T		not specified	Likely benign (Aug 05, 2023)
19-44517195-C-G		not specified	Uncertain significance (May 09, 2022)
19-44520501-T-C		not specified	Uncertain significance (Aug 10, 2021)
19-44520504-G-A		not specified	Uncertain significance (May 03, 2023)
19-44520509-C-T		not specified	Likely benign (Jan 22, 2024)
19-44520557-C-T		not specified	Uncertain significance (Feb 21, 2024)
19-44520582-T-A		not specified	Uncertain significance (Sep 14, 2023)
19-44520647-T-C		not specified	Uncertain significance (Jun 18, 2021)
19-44520650-A-G		not specified	Uncertain significance (Nov 15, 2021)
19-44520741-T-C		not specified	Uncertain significance (Nov 09, 2021)
19-44522646-C-A		not specified	Uncertain significance (Feb 22, 2023)
19-44522735-A-T		not specified	Uncertain significance (Feb 10, 2022)
19-44522828-G-T		not specified	Uncertain significance (Jan 08, 2024)
19-44522840-C-A		not specified	Uncertain significance (May 30, 2023)
19-44522843-T-C		not specified	Uncertain significance (Oct 25, 2023)
19-44524010-C-T		not specified	Uncertain significance (Sep 13, 2023)
19-44524011-G-C		not specified	Uncertain significance (Oct 20, 2023)
19-44524031-C-T		not specified	Uncertain significance (Aug 02, 2021)

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

Mouse Genome Informatics

• Gene name: Ceacam20

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