AXIN2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the AXIN2 gene was identified in a 3-year-old female with multiple congenital anomalies (read full description).

Date of Report

Jul 26, 2021

Full Name

Axis inhibitor 2

Location
Chromosome 17 (17q24.1)
Chromosome-location.png

Function

AXIN2 encodes a protein that stabilizes beta-catenin, which is involved in many important cell signaling and developmental pathways including proliferation and wound healing (Dong et al. 2001).

Database Links

GeneCards: GC17M065528

NCBI Gene: 8313

OMIM: 604025

UniProtKB/Swiss-Prot: Q9Y2T1

Clinical Significance

A de novo 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 AXIN2
Inheritance Pattern Autosomal dominant
Position (hg19) chr17:g.63554543C>T
Transcript NM_004655.3
DNA Change c.196G>A
Protein Change p.Glu66Lys
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