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Cfap43 Gene Detail
Summary
  • Symbol
    Cfap43
  • Name
    cilia and flagella associated protein 43
  • Synonyms
    4632415N18Rik, 4930428C11Rik, 4930463G05Rik, D19Ertd652e, Wdr96
  • Feature Type
    protein coding gene
  • IDs
    MGI:1289258
    NCBI Gene: 100048534
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:47735267-47837837 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 40.41 cM, cytoband D2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    578 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1289258
protein coding gene Chr19:47735267-47919299 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025234
protein coding gene Chr19:47572703-47782781 (-)
A/J MGP_AJ_G0025210
protein coding gene Chr19:45182071-45381959 (-)
AKR/J MGP_AKRJ_G0025179
protein coding gene Chr19:46662664-46848970 (-)
BALB/cJ MGP_BALBcJ_G0025205
protein coding gene Chr19:45244096-45437040 (-)
C3H/HeJ MGP_C3HHeJ_G0024965
protein coding gene Chr19:46837253-47025370 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025648
protein coding gene Chr19:48696438-48903586 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023061
protein coding gene Chr19:44412733-44583411 (-)
CAST/EiJ MGP_CASTEiJ_G0024430
protein coding gene Chr19:46667948-46844721 (-)
CBA/J MGP_CBAJ_G0024945
protein coding gene Chr19:51154016-51380372 (-)
DBA/2J MGP_DBA2J_G0025077
protein coding gene Chr19:45002825-45197969 (-)
FVB/NJ MGP_FVBNJ_G0025038
protein coding gene Chr19:44791252-44969268 (-)
LP/J MGP_LPJ_G0025163
protein coding gene Chr19:47452857-47665732 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025069
protein coding gene Chr19:50405970-50605247 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025706
protein coding gene Chr19:46771087-46974578 (-)
PWK/PhJ MGP_PWKPhJ_G0024179
protein coding gene Chr19:44967730-45152676 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023982
protein coding gene Chr19:45440804-45629683 (-)
WSB/EiJ MGP_WSBEiJ_G0024500
protein coding gene Chr19:46936296-47125133 (-)



Homology
more
  • Human Ortholog
    CFAP43, cilia and flagella associated protein 43
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CFAP43, cilia and flagella associated protein 43
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA373N18.2, C10orf79, SPGF19, WDR96
  • Links
    NCBI Gene ID: 80217
    neXtProt AC: NX_Q8NDM7
    UniProt: Q8NDM7

  • Chr Location
    10q25.1; chr10:104129888-104232363 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 36425
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CFAP43
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human CFAP43 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    2 images
    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.
Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects.
Gene Ontology
(GO)
Classifications
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  • 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
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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 100048534 NCBI Gene Model | MGI Sequence Detail 102571 C57BL/6J ±  kb
    transcript NM_027559 RefSeq | MGI Sequence Detail 5947 C57BL/6  
    polypeptide NP_081835 RefSeq | MGI Sequence Detail 1682 C57BL/6  
    For the selected sequence
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1918056, MGI:1918886, MGI:1922174, MGI:2147530
    References
    more
    • Summaries
      All 26
      Developmental Gene Expression 1
      Gene Ontology 1
      Phenotypes 3
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:265159 Kherraf ZE, et al., Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility. Mol Cell Endocrinol. 2018 Jun 15;468:70-80

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory