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Wfs1 Gene Detail
Summary
  • Symbol
    Wfs1
  • Name
    wolframin ER transmembrane glycoprotein
  • Synonyms
    wolframin, Wolfram syndrome 1 homolog (human)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328355
    NCBI Gene: 22393
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:37123448-37146326 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 19.46 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    789 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328355
 protein coding gene Chr5:37123448-37146549 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029497
 protein coding gene Chr5:35299777-35322703 (-)
A/J MGP_AJ_G0029463
 protein coding gene Chr5:34146147-34171141 (-)
AKR/J MGP_AKRJ_G0029413
 protein coding gene Chr5:35442306-35465451 (-)
BALB/cJ MGP_BALBcJ_G0029474
 protein coding gene Chr5:34646615-34670306 (-)
C3H/HeJ MGP_C3HHeJ_G0029197
 protein coding gene Chr5:35435452-35462418 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029928
 protein coding gene Chr5:37221477-37244545 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027166
 protein coding gene Chr5:31871910-31896432 (-)
CAST/EiJ MGP_CASTEiJ_G0028605
 protein coding gene Chr5:34587453-34610565 (-)
CBA/J MGP_CBAJ_G0029164
 protein coding gene Chr5:38129664-38152905 (-)
DBA/2J MGP_DBA2J_G0029311
 protein coding gene Chr5:34274114-34297033 (-)
FVB/NJ MGP_FVBNJ_G0029270
 protein coding gene Chr5:33754618-33777892 (-)
LP/J MGP_LPJ_G0029397
 protein coding gene Chr5:35759574-35784075 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029300
 protein coding gene Chr5:38865014-38890571 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029961
 protein coding gene Chr5:34927140-34950068 (-)
PWK/PhJ MGP_PWKPhJ_G0028329
 protein coding gene Chr5:33458358-33481232 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028162
 protein coding gene Chr5:34395132-34461073 (-)
WSB/EiJ MGP_WSBEiJ_G0028686
 protein coding gene Chr5:35013568-35036551 (-)



Homology
more
  • Human Ortholog
    WFS1, wolframin ER transmembrane glycoprotein
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    WFS1, wolframin ER transmembrane glycoprotein
  • Synonyms
    CTRCT41, WFRS, WFS, WFSL
  • Links
    NCBI Gene ID: 7466
    neXtProt AC: NX_O76024
    UniProt: O76024

  • Chr Location
    4p16.1; chr4:6269849-6303265 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Wfs1 mouse models; 12 with human WFS1 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    79 phenotypes from 4 alleles in 8 genetic backgrounds
    77 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.
Homozygous null mice typically exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress. Mice homozygous for a knock-out allele exhibit reduced male fertility associated with alterations in sperm morphology and a reduced number of spermatogenic cells. Homozygosity for the p.E864K mutation leads to vestibular defects and early onset deafness. Homozygous KO affects cochlear hair cells and leads to late onset hearing deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    90
  • GO References
    13
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
    1294
  • Tissues
    130
  • cDNA Data
    52
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22393 NCBI Gene Model | MGI Sequence Detail 22879 C57BL/6J ±  kb
    transcript NM_011716 RefSeq | MGI Sequence Detail 3564 C57BL/6  
    polypeptide P56695 UniProt | EBI | MGI Sequence Detail 890 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      cDNA 52
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2140914
    References
    more
    • Summaries
      All 120
      Developmental Gene Expression 9
      Diseases 7
      Gene Ontology 13
      Phenotypes 77
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:353568 Ahuja K, et al., A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome. Acta Neuropathol Commun. 2024 Aug 28;12(1):140
    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)
    Citing These Resources
    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