PTPRN2

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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Changes in this gene were identified in a UDN participant with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone (read full description).

Date of Report

Aug 29, 2022

Full Name

Protein tyrosine phosphatase receptor type N2

Location

7q36.3

Function

Enables transmembrane receptor protein tyrosine phosphatase activity (Cui et al., 1996).

Database Links

GeneCards: PTPRN2

NCBI Gene: 5799

OMIM: 601698

UniProtKB/Swiss-Prot: Q92932

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene PTPRN2

Inheritance Pattern Autosomal recessive

Position (hg19) chr7:g.157333412T>C & g.157691409C>G

Transcript NM_002847.3

DNA Change c.3044A>G & c.1744G>C

Protein Change p.Gln1015Arg & p.Glu582Gln

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