Cell atlas - DFNB31 - The Human Protein Atlas

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DFNB31

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enhanced (Karpas-707, U-266/84, U-266/70)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (Karpas-707, U-266/84, U-266/70) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] Show all	524 aa 55.6 kDa	No	0
DFNB31-002 ENSP00000363172 ENST00000374059	A0A0A0MRR8 [Direct mapping] Deafness, autosomal recessive 31, isoform CRA_a; Whirlin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Show all	GO:0005515 [protein binding] Show all	556 aa 59.3 kDa	Yes	0
DFNB31-004 ENSP00000354623 ENST00000362057	A0A0C4DFT9 [Direct mapping] Whirlin Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Show all	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] Show all	907 aa 96.6 kDa	No	0
DFNB31-005 ENSP00000363170 ENST00000374057	Q9P202 [Direct mapping] Whirlin Show all	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 Show all	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] Show all	345 aa 37.1 kDa	No	1

Contact

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The Project

The Human Protein Atlas

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