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Cfap57 Gene Detail
Summary
  • Symbol
    Cfap57
  • Name
    cilia and flagella associated protein 57
  • Synonyms
    1110020C03Rik, C130004B06Rik, LOC384050, Wdr65
  • Feature Type
    protein coding gene
  • IDs
    MGI:2686209
    NCBI Gene: 68625
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:118411748-118477974 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 54.84 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    530 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2686209
 protein coding gene Chr4:118411747-118477982 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028673
 protein coding gene Chr4:119617724-119690409 (-)
A/J MGP_AJ_G0028634
 protein coding gene Chr4:114971000-115038014 (-)
AKR/J MGP_AKRJ_G0028584
 protein coding gene Chr4:117504700-117571727 (-)
BALB/cJ MGP_BALBcJ_G0028655
 protein coding gene Chr4:115611827-115676470 (-)
C3H/HeJ MGP_C3HHeJ_G0028369
 protein coding gene Chr4:119063210-119131628 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029096
 protein coding gene Chr4:124180021-124255463 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026380
 protein coding gene Chr4:108984671-109056203 (-)
CAST/EiJ MGP_CASTEiJ_G0027803
 protein coding gene Chr4:116322875-116397209 (-)
CBA/J MGP_CBAJ_G0028336
 protein coding gene Chr4:127585247-127665371 (-)
DBA/2J MGP_DBA2J_G0028484
 protein coding gene Chr4:115586638-115656912 (-)
FVB/NJ MGP_FVBNJ_G0028452
 protein coding gene Chr4:114101031-114164967 (-)
LP/J MGP_LPJ_G0028586
 protein coding gene Chr4:119792503-119868633 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028479
 protein coding gene Chr4:132463190-132538936 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029133
 protein coding gene Chr4:118644889-118712282 (-)
PWK/PhJ MGP_PWKPhJ_G0027529
 protein coding gene Chr4:112412496-112492259 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027352
 protein coding gene Chr4:114952844-115025393 (-)
WSB/EiJ MGP_WSBEiJ_G0027882
 protein coding gene Chr4:118548175-118621635 (-)



Homology
more
  • Human Ortholog
    CFAP57, cilia and flagella associated protein 57
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP57, cilia and flagella associated protein 57
  • Synonyms
    VWS2, WDR65
  • Links
    NCBI Gene ID: 149465
    neXtProt AC: NX_Q96MR6
    UniProt: Q96MR6

  • Chr Location
    1p34.2; chr1:43172330-43254358 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cfap57 mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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.
Knockout leads to sperm flagellum dysmorphology, which causes male infertility.
Gene Ontology
(GO)
Classifications
less
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

Cellular Component
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
    805
  • Tissues
    29
  • cDNA Data
    10
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028730 Ensembl Gene Model | MGI Sequence Detail 66227 C57BL/6J ±  kb
    transcript ENSMUST00000071972 Ensembl | MGI Sequence Detail 4020 Not Applicable  
    polypeptide ENSMUSP00000071863 Ensembl | MGI Sequence Detail 1249 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1915875, MGI:1924381, MGI:2140512
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 2
      Diseases 1
      Phenotypes 13
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:333969 Ma A, et al., Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. JCI Insight. 2023 Feb 8;8(3)
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory