About   Help   FAQ
Whrn Gene Detail
Summary
  • Symbol
    Whrn
  • Name
    whirlin
  • Synonyms
    1110035G07Rik, C430046P22Rik, Dfnb31, mKIAA1526, Ush2d, wi
  • Feature Type
    protein coding gene
  • IDs
    MGI:2682003
    NCBI Gene: 73750
  • Gene Overview
    MyGene.info: DFNB31
Location & Maps
more
  • Sequence Map
    Chr4:63414910-63495991 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      81082 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DFNB31, deafness, autosomal recessive 31
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DFNB31, deafness, autosomal recessive 31
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CIP98, PDZD7B, USH2D, WHRN, WI
  • Links
    NCBI Gene ID: 25861
    neXtProt AC: NX_Q9P202

  • Chr Location
    9q32; chr9:114402078-114505509 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 18739
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: DFNB31
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Whrn mouse models; 2 with human DFNB31 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 31; DFNB31   OMIM: 607084 View 1 model
Usher Syndrome, Type Iid; USH2D   OMIM: 611383 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 3 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Spontaneous
    1
  • Targeted
    7
  • Transgenic
    1
  • Incidental Mutations
Homozygous mutants exhibit circling, head-shaking, hyperactivity and deafness. Mice homozygous for a knock-out allele of the long form exhibit retinal degeneration, profoundly impaired hearing, and abnormal cochlear hair cell stereociliary bundles.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000249 VEGA Gene Model | MGI Sequence Detail 81082 C57BL/6J ±  kb
transcript OTTMUST00000042551 VEGA | MGI Sequence Detail 4049 Not Applicable  
polypeptide OTTMUSP00000019122 VEGA | MGI Sequence Detail 918 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    538 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    Genomic 3
    cDNA 8
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-15434, MGI:1921000, MGI:1924874, MGI:2140557, MGI:2140611, MGI:98950
References
more
  • Summaries
    All 72
    Developmental Gene Expression 7
    Diseases 7
    Gene Ontology 20
    Phenotypes 29
  • Earliest
    J:269 Lane PW, Whirler mice, a recessive behavior mutation in linkage group VIII. J Hered. 1963 Nov-Dec;54:263-6
  • Latest
    J:226845 Zou J, et al., Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. Hum Mol Genet. 2015 Dec 15;24(24):6944-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory