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 this 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: GC0XM066021

NCBI Gene: 11326

OMIM: 300353

UniProtKB/Swiss-Prot: Q9Y279

Clinical Significance

A change in this gene was identified in a UDN participant.

Gene VSIG4
Inheritance Pattern X-linked
Position ChrX: 65253394
Transcript NM_007268.2
DNA Change c.334A>G
Protein Change p.T112A
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