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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:47723706-47825893 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 40.41 cM, cytoband D2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    577 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 Chr19:47723706-47907726 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP43, cilia and flagella associated protein 43
  • Synonyms
    bA373N18.2, C10orf79, HYDNP1, SPGF19, WDR96
  • Links
    NCBI Gene ID: 80217
    neXtProt AC: NX_Q8NDM7
    UniProt: Q8NDM7

  • Chr Location
    10q25.1; chr10:104129888-104232364 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cfap43 mouse models; 2 with human CFAP43 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 4 alleles in 3 genetic backgrounds
    2 images
    8 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 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
less
  • All GO Annotations
    23
  • GO References
    10
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    738
  • Tissues
    2
  • cDNA Data
    11
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 100048534 NCBI Gene Model | MGI Sequence Detail 102188 C57BL/6J ±  kb
    transcript NM_027559 RefSeq | MGI Sequence Detail 5947 ZRU/MplStud  
    polypeptide E9Q7R9 UniProt | EBI | MGI Sequence Detail 1682 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    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 36
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 10
      Phenotypes 8
    • 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:338634 Martinez G, et al., Oligogenic heterozygous inheritance of sperm abnormalities in mouse. Elife. 2022 Apr 22;11:e75373
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory