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Cfap70 Gene Detail
Summary
  • Symbol
    Cfap70
  • Name
    cilia and flagella associated protein 70
  • Synonyms
    5330402L21Rik, Ttc18
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923920
    NCBI Gene: 76670
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:20444261-20502294 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 11.53 cM, cytoband B
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    359 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923920
 protein coding gene Chr14:20444258-20502332 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021035
 protein coding gene Chr14:13152636-13211499 (-)
A/J MGP_AJ_G0020984
 protein coding gene Chr14:12845399-12906143 (-)
AKR/J MGP_AKRJ_G0020961
 protein coding gene Chr14:13368913-13428258 (-)
BALB/cJ MGP_BALBcJ_G0020987
 protein coding gene Chr14:12952978-13009771 (-)
C3H/HeJ MGP_C3HHeJ_G0020771
 protein coding gene Chr14:13306607-13365339 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021420
 protein coding gene Chr14:13644563-13704926 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018988
 protein coding gene Chr14:13153450-13213865 (-)
CAST/EiJ MGP_CASTEiJ_G0020295
 protein coding gene Chr14:13069748-13124680 (-)
CBA/J MGP_CBAJ_G0020737
 protein coding gene Chr14:14335846-14395454 (-)
DBA/2J MGP_DBA2J_G0020860
 protein coding gene Chr14:12675649-12731568 (-)
FVB/NJ MGP_FVBNJ_G0020843
 protein coding gene Chr14:12570033-12625987 (-)
LP/J MGP_LPJ_G0020936
 protein coding gene Chr14:13365025-13431658 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020869
 protein coding gene Chr14:14112653-14176199 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021453
 protein coding gene Chr14:13157966-13216770 (-)
PWK/PhJ MGP_PWKPhJ_G0020044
 protein coding gene Chr14:12236495-12294008 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019866
 protein coding gene Chr14:12935412-12996388 (-)
WSB/EiJ MGP_WSBEiJ_G0020351
 protein coding gene Chr14:13140473-13196531 (-)



Homology
more
  • Human Ortholog
    CFAP70, cilia and flagella associated protein 70
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP70, cilia and flagella associated protein 70
  • Synonyms
    SPGF41, TTC18
  • Links
    NCBI Gene ID: 118491
    neXtProt AC: NX_Q5T0N1
    UniProt: Q5T0N1

  • Chr Location
    10q22.2; chr10:73253762-73362979 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cfap70 mouse models; 1 with human CFAP70 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
    16 phenotypes from 2 alleles in 1 genetic background
    7 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 null allele exhibit male infertility, with males producing very few spermatozoa in the cauda epididymis and immotile spermatozoa showing short and coiled flagella with defective axoneme structures. Some pups die before 4 weeks due to hydrocephalus.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    5
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
    739
  • Tissues
    3
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039543 Ensembl Gene Model | MGI Sequence Detail 58034 C57BL/6J ±  kb
    transcript ENSMUST00000056073 Ensembl | MGI Sequence Detail 3615 Not Applicable  
    polypeptide ENSMUSP00000056869 Ensembl | MGI Sequence Detail 1141 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 4
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 7
    • 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:338031 Jin HJ, et al., CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men. EBioMedicine. 2023 Jul;93:104675
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory