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DFNB31 deafness, autosomal recessive 31 [ Homo sapiens (human) ]

Gene ID: 25861, updated on 27-Sep-2014
Official Symbol
DFNB31provided by HGNC
Official Full Name
deafness, autosomal recessive 31provided by HGNC
Primary source
HGNC:HGNC:16361
Locus tag
RP11-9M16.1
See related
Ensembl:ENSG00000095397; HPRD:09718; MIM:607928; Vega:OTTHUMG00000020539
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WI; WHRN; CIP98; USH2D; PDZD7B
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]
See DFNB31 in Epigenomics, MapViewer
Location:
9q32
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (114402080..114505509, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117164360..117267789, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene orosomucoid 2 Neighboring gene AT-hook transcription factor Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 Neighboring gene chromosome 9 open reading frame 91

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1526, DKFZp434N014

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
inner ear receptor stereocilium organization ISS
Inferred from Sequence or Structural Similarity
more info
 
retina homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
actin filament IEA
Inferred from Electronic Annotation
more info
 
cilium IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
growth cone IEA
Inferred from Electronic Annotation
more info
 
stereocilia ankle link complex IEA
Inferred from Electronic Annotation
more info
 
stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
whirlin
Names
whirlin
CASK-interacting protein CIP98
autosomal recessive deafness type 31 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016700.1 

    Range
    5001..108377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083885.2NP_001077354.2  whirlin isoform 2

    See proteins identical to NP_001077354.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AL110228, BC136416, BC142614, DA502065
    Consensus CDS
    CCDS43870.1
    UniProtKB/TrEMBL
    B9EGE6
    UniProtKB/Swiss-Prot
    Q9P202
    Related
    ENSP00000265134, OTTHUMP00000021976, ENST00000265134, OTTHUMT00000053773
    Conserved Domains (2) summary
    cd00992
    Location:433504
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07357
    Location:36116
    HN_L-whirlin_R2_like; second harmonin_N_like domain (repeat 2) of the long isoform of whirlin, and related domains
  2. NM_001173425.1NP_001166896.1  whirlin isoform 3

    See proteins identical to NP_001166896.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate, in-frame splice site in the 3' coding region, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
    Source sequence(s)
    BC014524, BC136416, BC142614, BC142684
    UniProtKB/TrEMBL
    B9EGE6
    UniProtKB/Swiss-Prot
    Q9P202
    Conserved Domains (3) summary
    cd00992
    Location:277357
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07356
    Location:37112
    HN_L-whirlin_R1_like; first harmonin_N_like domain (repeat 1) of the long isoform of whirlin, and related domains
    cd07357
    Location:419499
    HN_L-whirlin_R2_like; second harmonin_N_like domain (repeat 2) of the long isoform of whirlin, and related domains
  3. NM_015404.3NP_056219.3  whirlin isoform 1

    See proteins identical to NP_056219.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC136416, BC142614, BC142684
    Consensus CDS
    CCDS6806.1
    UniProtKB/TrEMBL
    B9EGE6
    UniProtKB/Swiss-Prot
    Q9P202
    Related
    ENSP00000354623, OTTHUMP00000021978, ENST00000362057, OTTHUMT00000053776
    Conserved Domains (3) summary
    cd00992
    Location:277357
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07356
    Location:37112
    HN_L-whirlin_R1_like; first harmonin_N_like domain (repeat 1) of the long isoform of whirlin, and related domains
    cd07357
    Location:419499
    HN_L-whirlin_R2_like; second harmonin_N_like domain (repeat 2) of the long isoform of whirlin, and related domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    114402080..114505509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251897.2XP_005251954.2  

    Conserved Domains (2) summary
    cd00992
    Location:138215
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07356
    Location:37112
    HN_L-whirlin_R1_like; first harmonin_N_like domain (repeat 1) of the long isoform of whirlin, and related domains
  2. XM_005251895.2XP_005251952.2  

    See proteins identical to XP_005251952.2

    UniProtKB/Swiss-Prot
    Q9P202
    Conserved Domains (3) summary
    cd00992
    Location:277357
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07356
    Location:37112
    HN_L-whirlin_R1_like; first harmonin_N_like domain (repeat 1) of the long isoform of whirlin, and related domains
    cd07357
    Location:419499
    HN_L-whirlin_R2_like; second harmonin_N_like domain (repeat 2) of the long isoform of whirlin, and related domains
  3. XM_005251898.2XP_005251955.2  

    Conserved Domains (2) summary
    cd00992
    Location:375446
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07357
    Location:158
    HN_L-whirlin_R2_like; second harmonin_N_like domain (repeat 2) of the long isoform of whirlin, and related domains
  4. XM_006717041.1XP_006717104.1  

    Conserved Domains (3) summary
    cd00992
    Location:277357
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07356
    Location:37112
    HN_L-whirlin_R1_like; first harmonin_N_like domain (repeat 1) of the long isoform of whirlin, and related domains
    cd07357
    Location:419499
    HN_L-whirlin_R2_like; second harmonin_N_like domain (repeat 2) of the long isoform of whirlin, and related domains

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    86769691..86872943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    117311097..117414443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)