About   Help   FAQ
Wdfy3 Gene Detail
Summary
  • Symbol
    Wdfy3
  • Name
    WD repeat and FYVE domain containing 3
  • Synonyms
    2610509D04Rik, Alfy, Bchs, Bwf1, D5Ertd66e, Ggtb3, mKIAA0993
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096875
    NCBI Gene: 72145
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:101980822-102217787 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 5, 48.95 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1228 from dbSNP Build 142
  • Strain Annotations
    17
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1096875
protein coding gene Chr5:101980819-102220081 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029797
protein coding gene Chr5:103416160-103662444 (-)
A/J no annotation
AKR/J MGP_AKRJ_G0029709
protein coding gene Chr5:102782373-103023078 (-)
BALB/cJ MGP_BALBcJ_G0029773
protein coding gene Chr5:100568987-100806328 (-)
C3H/HeJ MGP_C3HHeJ_G0029496
protein coding gene Chr5:103162028-103401635 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030228
protein coding gene Chr5:107678805-107926417 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027463
protein coding gene Chr5:94752249-94990468 (-)
CAST/EiJ MGP_CASTEiJ_G0028907
protein coding gene Chr5:101852308-102105052 (-)
CBA/J MGP_CBAJ_G0029466
protein coding gene Chr5:111437157-111688984 (-)
DBA/2J MGP_DBA2J_G0029610
protein coding gene Chr5:99722171-99959857 (-)
FVB/NJ MGP_FVBNJ_G0029569
protein coding gene Chr5:98521159-98759415 (-)
LP/J MGP_LPJ_G0029698
protein coding gene Chr5:104001469-104252117 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029598
protein coding gene Chr5:116438530-116689409 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030261
protein coding gene Chr5:102302166-102551497 (-)
PWK/PhJ MGP_PWKPhJ_G0028625
protein coding gene Chr5:98175621-98417580 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028460
protein coding gene Chr5:99963830-100206505 (-)
WSB/EiJ MGP_WSBEiJ_G0028985
protein coding gene Chr5:102659951-102901887 (-)



Homology
more
  • Human Ortholog
    WDFY3, WD repeat and FYVE domain containing 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    WDFY3, WD repeat and FYVE domain containing 3
  • Synonyms
    ALFY, BCHS, MCPH18, ZFYVE25
  • Links
    NCBI Gene ID: 23001
    neXtProt AC: NX_Q8IZQ1
    UniProt: Q8IZQ1

  • Chr Location
    4q21.23; chr4:84668765-84966690 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Wdfy3 mouse models; 1 with human WDFY3 associations

Human Disease Mouse Models
      
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
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    59 phenotypes from 5 alleles in 5 genetic backgrounds
    7 images
    27 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.
Mice homozygous for hypomorphic mutations of this gene exhibit perinatal lethality, altered neural progenitor divisions and neuronal migration, a regionally enlarged cerebral cortex, and focal cortical dysplasia. Homozygotes for a null allele show embryonic and neonatal lethality, congenital heart defects including VSD, overriding aorta and DORV, thin ventricular wall, dilated ventricles, and disorganized ventricular trabeculation.
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
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
non-membrane-bounded 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000043940 Ensembl Gene Model | MGI Sequence Detail 236966 C57BL/6J ±  kb
    transcript ENSMUST00000174598 Ensembl | MGI Sequence Detail 10581 Not Applicable  
    polypeptide ENSMUSP00000134244 Ensembl | MGI Sequence Detail 3526 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 18
      Primer pair 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1098710, MGI:1919395, MGI:2141186
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 8
      Phenotypes 27
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:334077 Sheppard SE, et al., Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv. 2023 Mar 10;9(10):eade1463

    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.
    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory