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Cfap47 Gene Detail
Summary
  • Symbol
    Cfap47
  • Name
    cilia and flagella associated protein 47
  • Synonyms
    Chdc2, Gm16462, Gm3297, Gm7173, Gm8787
  • Feature Type
    protein coding gene
  • IDs
    MGI:3781475
    NCBI Gene: 636104
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:78310165-78560891 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 38.37 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    351 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3781475
protein coding gene ChrX:78310164-78560957 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035881
protein coding gene ChrX:75144850-75413329 (-)
A/J MGP_AJ_G0035867
protein coding gene ChrX:75417867-75671596 (-)
AKR/J MGP_AKRJ_G0035785
protein coding gene ChrX:77378229-77661248 (-)
BALB/cJ MGP_BALBcJ_G0035847
protein coding gene ChrX:74333058-74590316 (-)
C3H/HeJ MGP_C3HHeJ_G0035558
protein coding gene ChrX:75587574-75840940 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036379
protein coding gene ChrX:77470857-77740197 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033209
protein coding gene ChrX:74797883-75036052 (-)
CAST/EiJ MGP_CASTEiJ_G0034846
protein coding gene ChrX:60764305-61027038 (-)
CBA/J MGP_CBAJ_G0035532
protein coding gene ChrX:79574350-79853274 (-)
DBA/2J MGP_DBA2J_G0035688
protein coding gene ChrX:74863737-75126531 (-)
FVB/NJ MGP_FVBNJ_G0035627
protein coding gene ChrX:74069818-74392587 (-)
LP/J MGP_LPJ_G0035776
protein coding gene ChrX:75977494-76236773 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035664
protein coding gene ChrX:82431685-82729117 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036405
protein coding gene ChrX:74968426-75229347 (-)
PWK/PhJ MGP_PWKPhJ_G0034544
protein coding gene ChrX:58834534-59083209 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034375
protein coding gene ChrX:61655383-61909580 (-)
WSB/EiJ MGP_WSBEiJ_G0034985
protein coding gene ChrX:74013174-74301170 (-)



Homology
more
  • Human Ortholog
    CFAP47, cilia and flagella associated protein 47
  • Vertebrate Orthologs
    1
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP47, cilia and flagella associated protein 47
  • Synonyms
    CHDC2, CXorf22, CXorf30, CXorf59, SPGF52, SPGFX3
  • Links
    NCBI Gene ID: 286464
    neXtProt AC: NX_Q6ZTR5
    UniProt: Q6ZTR5

  • Chr Location
    Xp21.1; chrX:35919734-36385319 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cfap47 mouse models; 1 with human CFAP47 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    3 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous knockout leads to male infertility owing to impaired sperm motility.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • cDNA Data
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000073077 Ensembl Gene Model | MGI Sequence Detail 250727 C57BL/6J ±  kb
    transcript ENSMUST00000197180 Ensembl | MGI Sequence Detail 9568 Not Applicable  
    polypeptide ENSMUSP00000142707 Ensembl | MGI Sequence Detail 3184 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR001715 Calponin homology domain
      IPR036872 CH domain superfamily
      IPR013783 Immunoglobulin-like fold
    Molecular
    Reagents
    less
    • All nucleic 2
      cDNA 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3642993, MGI:3643055, MGI:3645063
    References
    more
    • Summaries
      All 18
      Diseases 1
      Gene Ontology 4
      Phenotypes 3
    • Earliest
      J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
    • Latest
      J:307391 Liu C, et al., Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Am J Hum Genet. 2021 Feb 4;108(2):309-323

    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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    last database update
    06/23/2022
    MGI 6.20
    The Jackson Laboratory