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Cfap44 Gene Detail
Summary
  • Symbol
    Cfap44
  • Name
    cilia and flagella associated protein 44
  • Synonyms
    6330444M21Rik, D16Ertd642e, Wdr52
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277238
    NCBI Gene: 212517
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:44394796-44482428 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 28.72 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    700 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277238
protein coding gene Chr16:44394742-44482694 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022839
protein coding gene Chr16:43146997-43235467 (+)
A/J MGP_AJ_G0022804
protein coding gene Chr16:41204322-41294891 (+)
AKR/J MGP_AKRJ_G0022776
protein coding gene Chr16:42520618-42613223 (+)
BALB/cJ MGP_BALBcJ_G0022805
protein coding gene Chr16:41190865-41288964 (+)
C3H/HeJ MGP_C3HHeJ_G0022569
protein coding gene Chr16:42719282-42808278 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023252
protein coding gene Chr16:44133061-44220762 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020767
protein coding gene Chr16:41250778-41342710 (+)
CAST/EiJ MGP_CASTEiJ_G0022095
protein coding gene Chr16:42919246-43014530 (+)
CBA/J MGP_CBAJ_G0022540
protein coding gene Chr16:45999677-46097293 (+)
DBA/2J MGP_DBA2J_G0022672
protein coding gene Chr16:40942740-41030150 (+)
FVB/NJ MGP_FVBNJ_G0022647
protein coding gene Chr16:40898886-40984862 (+)
LP/J MGP_LPJ_G0022740
protein coding gene Chr16:42861890-42956041 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022666
protein coding gene Chr16:45389593-45480685 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023267
protein coding gene Chr16:42548798-42633485 (+)
PWK/PhJ MGP_PWKPhJ_G0021835
protein coding gene Chr16:41326176-41417065 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021666
protein coding gene Chr16:42456589-42547766 (+)
WSB/EiJ MGP_WSBEiJ_G0022139
protein coding gene Chr16:42642925-42736907 (+)



Homology
more
  • Human Ortholog
    CFAP44, cilia and flagella associated protein 44
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CFAP44, cilia and flagella associated protein 44
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SPGF20, WDR52
  • Links
    NCBI Gene ID: 55779
    neXtProt AC: NX_Q96MT7
    UniProt: Q96MT7

  • Chr Location
    3q13.2; chr3:113286930-113445190 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cfap44 mouse models; 1 with human CFAP44 associations

Human Disease Mouse Models
      
IDs
View 1 model
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
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    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
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 multiple sperm axonemal defects.
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
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 ENSMUSG00000071550 Ensembl Gene Model | MGI Sequence Detail 87633 C57BL/6J ±  kb
    transcript ENSMUST00000120049 Ensembl | MGI Sequence Detail 6199 Not Applicable  
    polypeptide ENSMUSP00000113908 Ensembl | MGI Sequence Detail 1843 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 13
      Primer pair 1
    Other
    Accession IDs
    less
    MGI:2686596
    References
    more
    • Summaries
      All 28
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 7
    • 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 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
    10/08/2019
    MGI 6.14
    The Jackson Laboratory