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Aliases for DFNB31 Gene

Aliases for DFNB31 Gene

  • Deafness, Autosomal Recessive 31 2 3
  • WHRN 3 4 6
  • Autosomal Recessive Deafness Type 31 Protein 3 4
  • KIAA1526 4 6
  • Whirlin 2 3
  • CIP98 3 6
  • USH2D 3 6
  • CASK-Interacting Protein CIP98 3
  • PDZD7B 3
  • WI 3

External Ids for DFNB31 Gene

Previous GeneCards Identifiers for DFNB31 Gene

  • GC09U990192
  • GC09M112541
  • GC09M114243
  • GC09M116204
  • GC09M117164
  • GC09M086769

Summaries for DFNB31 Gene

Entrez Gene Summary for DFNB31 Gene

  • 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]

GeneCards Summary for DFNB31 Gene

DFNB31 (Deafness, Autosomal Recessive 31) is a Protein Coding gene. Diseases associated with DFNB31 include deafness, autosomal recessive 31 and usher syndrome, type 2d. An important paralog of this gene is USH1C.

UniProtKB/Swiss-Prot for DFNB31 Gene

  • Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.

Gene Wiki entry for DFNB31 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DFNB31 Gene

Genomics for DFNB31 Gene

Regulatory Elements for DFNB31 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DFNB31 Gene

Start:
114,402,080 bp from pter
End:
114,505,509 bp from pter
Size:
103,430 bases
Orientation:
Minus strand

Genomic View for DFNB31 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DFNB31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DFNB31 Gene

Proteins for DFNB31 Gene

  • Protein details for DFNB31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P202-WHRN_HUMAN
    Recommended name:
    Whirlin
    Protein Accession:
    Q9P202
    Secondary Accessions:
    • A5PKU1
    • A5PKZ9
    • Q5TAU9
    • Q5TAV0
    • Q5TAV1
    • Q5TAV2
    • Q96MZ9
    • Q9H9F4
    • Q9UFZ3

    Protein attributes for DFNB31 Gene

    Size:
    907 amino acids
    Molecular mass:
    96586 Da
    Quaternary structure:
    • Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of DFNB31/WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1. Interacts with RPGR. Interacts with EPS8.
    SequenceCaution:
    • Sequence=BAA96050.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DFNB31 Gene

    Alternative splice isoforms for DFNB31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DFNB31 Gene

Proteomics data for DFNB31 Gene at MOPED

Post-translational modifications for DFNB31 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DFNB31 Gene

No data available for DME Specific Peptides for DFNB31 Gene

Domains for DFNB31 Gene

Protein Domains for DFNB31 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DFNB31 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P202

UniProtKB/Swiss-Prot:

WHRN_HUMAN :
  • Q9P202
Domain:
  • Contains 3 PDZ (DHR) domains.
genes like me logo Genes that share domains with DFNB31: view

No data available for Gene Families for DFNB31 Gene

Function for DFNB31 Gene

Molecular function for DFNB31 Gene

UniProtKB/Swiss-Prot Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.

Gene Ontology (GO) - Molecular Function for DFNB31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17584769
genes like me logo Genes that share ontologies with DFNB31: view
genes like me logo Genes that share phenotypes with DFNB31: view

Animal Models for DFNB31 Gene

MGI Knock Outs for DFNB31:

Animal Model Products

CRISPR Products

miRNA for DFNB31 Gene

miRTarBase miRNAs that target DFNB31

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DFNB31 Gene

Localization for DFNB31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DFNB31 Gene

Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). {ECO:0000250, ECO:0000269 PubMed:17584769}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DFNB31 Gene COMPARTMENTS Subcellular localization image for DFNB31 gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for DFNB31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002142 stereocilia ankle link complex IEA --
GO:0005737 cytoplasm IDA 16434480
GO:0005884 actin filament IEA --
GO:0005929 cilium --
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with DFNB31: view

Pathways for DFNB31 Gene

SuperPathways for DFNB31 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DFNB31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 17171570
GO:0007605 sensory perception of sound IMP 17171570
GO:0010628 positive regulation of gene expression IEA --
GO:0050953 sensory perception of light stimulus IMP 17171570
GO:0060122 inner ear receptor stereocilium organization ISS --
genes like me logo Genes that share ontologies with DFNB31: view

No data available for Pathways by source for DFNB31 Gene

Compounds for DFNB31 Gene

(2) Novoseek inferred chemical compound relationships for DFNB31 Gene

Compound -log(P) Hits PubMed IDs
guanylate 53.4 3
serine 15 2
genes like me logo Genes that share compounds with DFNB31: view

Transcripts for DFNB31 Gene

Unigene Clusters for DFNB31 Gene

Deafness, autosomal recessive 31:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DFNB31

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DFNB31

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DFNB31 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a ·
SP1: - - - - - - - - -
SP2: -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: -
SP8:
SP9:
SP10:
SP11: - - -

ExUns: 18b ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DFNB31 Gene

GeneLoc Exon Structure for
DFNB31
ECgene alternative splicing isoforms for
DFNB31

Expression for DFNB31 Gene

mRNA expression in normal human tissues for DFNB31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DFNB31 Gene

This gene is overexpressed in Adrenal Gland (6.7).

SOURCE GeneReport for Unigene cluster for DFNB31 Gene Hs.93836

genes like me logo Genes that share expressions with DFNB31: view

In Situ Assay Products

No data available for Protein expression and mRNA Expression by UniProt/SwissProt for DFNB31 Gene

Orthologs for DFNB31 Gene

This gene was present in the common ancestor of animals.

Orthologs for DFNB31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DFNB31 35
  • 99.05 (n)
  • 98.51 (a)
DFNB31 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DFNB31 35
  • 89.11 (n)
  • 90.94 (a)
DFNB31 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DFNB31 35
  • 87.4 (n)
  • 88.24 (a)
DFNB31 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Whrn 35
  • 85.65 (n)
  • 88.26 (a)
Whrn 16
Whrn 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DFNB31 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DFNB31 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dfnb31 35
  • 85.71 (n)
  • 87.79 (a)
chicken
(Gallus gallus)
Aves DFNB31 35
  • 73.45 (n)
  • 71.65 (a)
DFNB31 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DFNB31 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32716 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dfnb31 35
  • 61.17 (n)
  • 62.07 (a)
zebrafish
(Danio rerio)
Actinopterygii dfnb31a 36
  • 58 (a)
OneToMany
dfnb31b 36
  • 50 (a)
OneToMany
LOC100334777 35
  • 64.65 (n)
  • 68.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta dysc 36
  • 21 (a)
OneToMany
Species with no ortholog for DFNB31:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DFNB31 Gene

ENSEMBL:
Gene Tree for DFNB31 (if available)
TreeFam:
Gene Tree for DFNB31 (if available)

Paralogs for DFNB31 Gene

Paralogs for DFNB31 Gene

Selected SIMAP similar genes for DFNB31 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DFNB31: view

Variants for DFNB31 Gene

Sequence variations from dbSNP and Humsavar for DFNB31 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs716259 -- 114,435,526(+) TTTTT(A/G)CAGGA intron-variant
rs716260 -- 114,435,686(+) CTTCA(A/G)GCTGC intron-variant
rs717916 -- 114,414,026(-) GGAGC(A/G)CTGGT intron-variant
rs718841 -- 114,435,755(+) AACAG(A/T)GACCA intron-variant
rs725340 -- 114,487,594(-) TTCAT(C/T)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DFNB31 Gene

Variant ID Type Subtype PubMed ID
nsv893750 CNV Loss 21882294
dgv33e196 CNV Duplication 17116639
dgv948n27 CNV Gain 19166990
nsv831693 CNV Gain 17160897
nsv6678 CNV Insertion 18451855
esv2677969 CNV Deletion 23128226
esv27525 CNV Gain 19812545

Relevant External Links for DFNB31 Gene

HapMap Linkage Disequilibrium report
DFNB31
Human Gene Mutation Database (HGMD)
DFNB31
Locus Specific Mutation Databases (LSDB)
DFNB31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DFNB31 Gene

Disorders for DFNB31 Gene

(2) OMIM Diseases for DFNB31 Gene (607928)

UniProtKB/Swiss-Prot

WHRN_HUMAN
  • Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11973626, ECO:0000269 PubMed:12833159, ECO:0000269 PubMed:15841483}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Usher syndrome 2D (USH2D) [MIM:611383]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for DFNB31 Gene

Relevant External Links for DFNB31

GeneTests
DFNB31
GeneReviews
DFNB31
Genetic Association Database (GAD)
DFNB31
Human Genome Epidemiology (HuGE) Navigator
DFNB31
genes like me logo Genes that share disorders with DFNB31: view

Publications for DFNB31 Gene

  1. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. (PMID: 12833159) Mburu P. … Brown S.D. (Nat. Genet. 2003) 2 3 4 23
  2. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. (PMID: 17171570) Ebermann I. … Bolz H. (Hum. Genet. 2007) 2 3 4 23
  3. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. (PMID: 16434480) van Wijk E. … Kremer H. (Hum. Mol. Genet. 2006) 3 4 23
  4. Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. (PMID: 20352026) Aller E. … MillA!n J.M. (Mol. Vis. 2010) 3 23 48
  5. Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. (PMID: 19724906) Toiyama Y. … Kusunoki M. (Int. J. Oncol. 2009) 3 23

Products for DFNB31 Gene

Sources for DFNB31 Gene

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