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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:63333147-63414228 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 33.97 cM, cytoband C1
  • Mapping Data
    26 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2424 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2682003
 protein coding gene Chr4:63333145-63414320 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028368
 protein coding gene Chr4:62420909-62510902 (-)
A/J MGP_AJ_G0028329
 protein coding gene Chr4:60179708-60261427 (-)
AKR/J MGP_AKRJ_G0028279
 protein coding gene Chr4:61819042-61901479 (-)
BALB/cJ MGP_BALBcJ_G0028349
 protein coding gene Chr4:60367484-60449758 (-)
C3H/HeJ MGP_C3HHeJ_G0028065
 protein coding gene Chr4:62344127-62427616 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028789
 protein coding gene Chr4:64561791-64649867 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026092
 protein coding gene Chr4:57532240-57617511 (-)
CAST/EiJ MGP_CASTEiJ_G0027503
 protein coding gene Chr4:60322236-60416042 (-)
CBA/J MGP_CBAJ_G0028034
 protein coding gene Chr4:66824931-66916557 (-)
DBA/2J MGP_DBA2J_G0028183
 protein coding gene Chr4:60032850-60114090 (-)
FVB/NJ MGP_FVBNJ_G0028148
 protein coding gene Chr4:59310003-59394015 (-)
LP/J MGP_LPJ_G0028281
 protein coding gene Chr4:62707078-62791380 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028177
 protein coding gene Chr4:69933421-70018813 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028825
 protein coding gene Chr4:61927019-62015810 (-)
PWK/PhJ MGP_PWKPhJ_G0027232
 protein coding gene Chr4:58565652-58649742 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027057
 protein coding gene Chr4:59388163-59504830 (-)
WSB/EiJ MGP_WSBEiJ_G0027583
 protein coding gene Chr4:61958529-62043924 (-)



Homology
more
  • Human Ortholog
    WHRN, whirlin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    WHRN, whirlin
  • Synonyms
    CIP98, DFNB31, PDZD7B, USH2D, WI
  • Links
    NCBI Gene ID: 25861
    neXtProt AC: NX_Q9P202
    UniProt: Q9P202

  • Chr Location
    9q32
Human Diseases
more
  • Diseases
    2 with Whrn mouse models; 3 with human WHRN associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    56 phenotypes from 5 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    3 images
    43 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. Targeted homozygotes lacking the long form show altered OHC stereocilia bundles but a milder phenotype with normal stereocilia in IHCs and a subset of vestibular HCs and no vestibular deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    70
  • GO References
    28
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    766
  • Tissues
    47
  • cDNA Data
    10
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039137 Ensembl Gene Model | MGI Sequence Detail 81082 C57BL/6J ±  kb
    transcript ENSMUST00000084510 Ensembl | MGI Sequence Detail 4049 Not Applicable  
    polypeptide ENSMUSP00000081557 Ensembl | MGI Sequence Detail 918 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 3
      cDNA 10
      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 96
      Developmental Gene Expression 12
      Diseases 6
      Gene Ontology 28
      Phenotypes 43
    • 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:351467 Aguilar C, et al., Pleiotropic brain function of whirlin identified by a novel mutation. iScience. 2024 Jul 19;27(7):110170
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory