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DFNB31

GENERAL INFORMATION

Gene name

 DFNB31

Gene description

 Deafness, autosomal recessive 31

Protein class

 Disease related genes
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Membrane,Secreted

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (adrenal gland)
GTEx:Tissue enhanced (adrenal gland)
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression at variable levels in most tissues, including adrenal gland.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Caution, Splice and/or transcript discrepancy exists.

Reliability score

 Uncertain based on 2 antibodies.
HPA002480 , CAB033194
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

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)

 114402080 - 114505450

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000095397 (version 83.38)

Entrez gene

 25861

UniProt

 Q9P202 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9P202

Antibodypedia

 DFNB31 antibodies

PROTEIN BROWSER
DFNB31-001
DFNB31-002
DFNB31-004
DFNB31-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DFNB31-001
ENSP00000265134
ENST00000265134
A0A0C4DFN4 [Direct mapping]
Deafness, autosomal recessive 31, isoform CRA_b; Whirlin
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Predicted intracellular proteins
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GO:0005515 [protein binding]
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 524 aa
55.6 kDa 		No 0
DFNB31-002
ENSP00000363172
ENST00000374059
A0A0A0MRR8 [Direct mapping]
Deafness, autosomal recessive 31, isoform CRA_a; Whirlin
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
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GO:0005515 [protein binding]
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 556 aa
59.3 kDa 		Yes 0
DFNB31-004
ENSP00000354623
ENST00000362057
A0A0C4DFT9 [Direct mapping]
Whirlin
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   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
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GO:0001917 [photoreceptor inner segment]
GO:0002141 [stereocilia ankle link]
GO:0002142 [stereocilia ankle link complex]
GO:0005515 [protein binding]
GO:0005884 [actin filament]
GO:0005929 [cilium]
GO:0010628 [positive regulation of gene expression]
GO:0021694 [cerebellar Purkinje cell layer formation]
GO:0032391 [photoreceptor connecting cilium]
GO:0032420 [stereocilium]
GO:0032421 [stereocilium bundle]
GO:0032426 [stereocilium bundle tip]
GO:0036064 [ciliary basal body]
GO:0042803 [protein homodimerization activity]
GO:0045184 [establishment of protein localization]
GO:0046982 [protein heterodimerization activity]
GO:0060122 [inner ear receptor stereocilium organization]
GO:1990075 [periciliary membrane compartment]
GO:1990227 [paranodal junction maintenance]
GO:1990696 [USH2 complex]
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 907 aa
96.6 kDa 		No 0
DFNB31-005
ENSP00000363170
ENST00000374057
Q9P202 [Direct mapping]
Whirlin
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
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GO:0001895 [retina homeostasis]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007605 [sensory perception of sound]
GO:0030426 [growth cone]
GO:0032420 [stereocilium]
GO:0050953 [sensory perception of light stimulus]
GO:0060122 [inner ear receptor stereocilium organization]
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 345 aa
37.1 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.