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Cfap69 Gene Detail
Summary
  • Symbol
    Cfap69
  • Name
    cilia and flagella associated protein 69
  • Synonyms
    A330021E22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443778
    NCBI Gene: 207686
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:5629284-5714232 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 3.07 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2071 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443778
 protein coding gene Chr5:5629278-5714239 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029274
 protein coding gene Chr5:2481060-2571387 (-)
A/J MGP_AJ_G0029237
 protein coding gene Chr5:2389557-2466462 (-)
AKR/J MGP_AKRJ_G0029187
 protein coding gene Chr5:2432015-2516617 (-)
BALB/cJ MGP_BALBcJ_G0029255
 protein coding gene Chr5:2589115-2681124 (-)
C3H/HeJ MGP_C3HHeJ_G0028975
 protein coding gene Chr5:2629970-2718905 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029705
 protein coding gene Chr5:2874488-2957302 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026948
 protein coding gene Chr5:2467229-2538795 (-)
CAST/EiJ MGP_CASTEiJ_G0028388
 protein coding gene Chr5:2584981-2667953 (-)
CBA/J MGP_CBAJ_G0028936
 protein coding gene Chr5:2852290-2946038 (-)
DBA/2J MGP_DBA2J_G0029089
 protein coding gene Chr5:2533984-2616712 (-)
FVB/NJ MGP_FVBNJ_G0029050
 protein coding gene Chr5:2386684-2463355 (-)
LP/J MGP_LPJ_G0029178
 protein coding gene Chr5:2577212-2667738 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029077
 protein coding gene Chr5:2780440-2881387 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029736
 protein coding gene Chr5:2487386-2565665 (-)
PWK/PhJ MGP_PWKPhJ_G0028110
 protein coding gene Chr5:2459291-2543569 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027943
 protein coding gene Chr5:2784147-2860753 (-)
WSB/EiJ MGP_WSBEiJ_G0028468
 protein coding gene Chr5:2517957-2605437 (-)



Homology
more
  • Human Ortholog
    CFAP69, cilia and flagella associated protein 69
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP69, cilia and flagella associated protein 69
  • Synonyms
    C7orf63, FAP69, SPGF24
  • Links
    NCBI Gene ID: 79846
    neXtProt AC: NX_A5D8W1
    UniProt: A5D8W1

  • Chr Location
    7q21.13; chr7:90245174-90323723 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cfap69 mouse models; 1 with human CFAP69 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 4 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.
Homozygous loss-of-function mutations in this gene result in male sterility associated with severe asthenoteratospermia and multiple morphological abnormalities of the sperm flagella.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    9
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 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
membraneless 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
    802
  • Tissues
    25
  • cDNA Data
    26
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 207686 NCBI Gene Model | MGI Sequence Detail 84949 C57BL/6J ±  kb
    transcript NM_172447 RefSeq | MGI Sequence Detail 3245 C57BL/6  
    polypeptide Q8BH53 UniProt | EBI | MGI Sequence Detail 942 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 26
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140870
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 9
      Phenotypes 13
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory