DFNB31

GENE INFORMATION

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Gene name

DFNB31 (HGNC Symbol)

Synonyms

CIP98, PDZD7B, USH2D, WHRN

Description

Deafness, autosomal recessive 31 (HGNC Symbol)

Entrez gene summary

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

Chromosome

9

Cytoband

q32

Chromosome location (bp)

117164360 - 117267730

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000095397 (version 75.37)

Entrez gene

25861

UniProt

Q9P202 (UniProt - Evidence at protein level)

neXtProt

NX_Q9P202

Antibodypedia

DFNB31 antibodies
 

PROTEIN VIEW

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DFNB31-001
 
DFNB31-002
 
DFNB31-004
 
DFNB31-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DFNB31-001 ENSP00000265134
ENST00000265134
Q9P202
Show all »
Show » Show » 524 55.6 No 0
DFNB31-002 ENSP00000363172
ENST00000374059
Q9P202
Show all »
Show » Show » 556 59.3 Yes 0
DFNB31-004 ENSP00000354623
ENST00000362057
Q9P202
Show all »
Show » Show » 907 96.6 No 0
DFNB31-005 ENSP00000363170
ENST00000374057
Q9P202
Show all »
Show » Show » 345 37.1 No 1