Homo sapiens Gene: DFNB31
Summary
InnateDB Gene IDBG-82214.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DFNB31
Gene Name deafness, autosomal recessive 31
Synonyms CIP98; PDZD7B; USH2D; WHRN; WI;
Species Homo sapiens
Ensembl Gene ENSG00000095397
Encoded Proteins
deafness, autosomal recessive 31
deafness, autosomal recessive 31
deafness, autosomal recessive 31
deafness, autosomal recessive 31
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:114402080-114505450
Strand Reverse strand
Band q32
Transcripts
ENST00000362057 ENSP00000354623
ENST00000265134 ENSP00000265134
ENST00000374059 ENSP00000363172
ENST00000374057 ENSP00000363170
ENST00000480518
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001895 retina homeostasis
GO:0007605 sensory perception of sound
GO:0050953 sensory perception of light stimulus
GO:0060122 inner ear receptor stereocilium organization
Cellular Component
GO:0002142 stereocilia ankle link complex
GO:0005737 cytoplasm
GO:0005884 actin filament
GO:0005929 cilium
GO:0030426 growth cone
GO:0032420 stereocilium
GO:0032421 stereocilium bundle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.93836
RefSeq NM_001083885 NM_001173425 NM_015404 XM_005251895 XM_005251898
HUGO
OMIM
CCDS CCDS43870 CCDS6806
HPRD 09718
IMGT
EMBL
GenPept
RNA Seq Atlas