VSIG4

On this page, you will find information about a genetic change that was identified in a UDN participant.

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A change in the VSIG4 gene was identified in a male, age 7, with episodic fevers, food intolerance, projectile vomiting, and chronic constipation (read full description).

Date of Report

Jun 09, 2020

Full Name

V-set and immunoglobulin domains-containing protein 4

Location

Chromosome X (Xq12)

Function

The VSIG4 gene codes for a B7 family-related protein. It is expressed primarily on resting tissue macrophages and plays a role in inhibiting human T-cell responses and proliferation (Vogt et al., 2006).

Database Links

GeneCards: VSIG4

NCBI Gene: 11326

OMIM: 300353

UniProtKB/Swiss-Prot: Q9Y279

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene VSIG4

Inheritance Pattern X-linked

Position (hg19) chrX:g.65253394T>C

Transcript NM_007268.2

DNA Change c.334A>G

Protein Change p.Thr112Ala

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