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Akap4 Gene Detail
Summary
  • Symbol
    Akap4
  • Name
    A kinase anchor protein 4
  • Synonyms
    Fsc1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102794
    NCBI Gene: 11643
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:6933758-6944848 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.17 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    229 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102794
 protein coding gene ChrX:6933754-6944848 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035508
 protein coding gene ChrX:1650525-1660933 (+)
A/J MGP_AJ_G0035486
 protein coding gene ChrX:1625295-1635930 (+)
AKR/J MGP_AKRJ_G0035419
 protein coding gene ChrX:1707487-1718302 (+)
BALB/cJ MGP_BALBcJ_G0035482
 protein coding gene ChrX:1657115-1667811 (+)
C3H/HeJ MGP_C3HHeJ_G0035190
 protein coding gene ChrX:1688174-1711166 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036006
 protein coding gene ChrX:1724217-1735143 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032881
 protein coding gene ChrX:1191162-1201648 (+)
CAST/EiJ MGP_CASTEiJ_G0034490
 protein coding gene ChrX:1580969-1592566 (+)
CBA/J MGP_CBAJ_G0035160
 protein coding gene ChrX:1819570-1833025 (+)
DBA/2J MGP_DBA2J_G0035317
 protein coding gene ChrX:1665574-1676132 (+)
FVB/NJ MGP_FVBNJ_G0035264
 protein coding gene ChrX:1624116-1634134 (+)
LP/J MGP_LPJ_G0035394
 protein coding gene ChrX:1660463-1671975 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035303
 protein coding gene ChrX:1792657-1803124 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036024
 protein coding gene ChrX:1652571-1662810 (+)
PWK/PhJ MGP_PWKPhJ_G0034192
 protein coding gene ChrX:1578237-1589576 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034029
 protein coding gene ChrX:1588503-1604697 (+)
WSB/EiJ MGP_WSBEiJ_G0034613
 protein coding gene ChrX:1651746-1664068 (+)



Homology
more
  • Human Ortholog
    AKAP4, A-kinase anchoring protein 4
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AKAP4, A-kinase anchoring protein 4
  • Synonyms
    AKAP-4, AKAP 82, AKAP82, CT99, FSC1, hAKAP82, HI, p82, PRKA4
  • Links
    NCBI Gene ID: 8852
    neXtProt AC: NX_Q5JQC9
    UniProt: Q5JQC9

  • Chr Location
    Xp11.22; chrX:50190777-50201007 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 3 genetic backgrounds
    5 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.
Inactivation of this locus results in male infertility due to impaired sperm motility. Heterozygous mutant females show no reproductive defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    15
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
    706
  • cDNA Data
    23
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000050089 Ensembl Gene Model | MGI Sequence Detail 11091 C57BL/6J ±  kb
    transcript ENSMUST00000057101 Ensembl | MGI Sequence Detail 2851 Not Applicable  
    polypeptide ENSMUSP00000050962 Ensembl | MGI Sequence Detail 849 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 5
      cDNA 23
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-19702
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 1
      Gene Ontology 15
      Phenotypes 5
    • Earliest
      J:20326 Carrera A, et al., The major fibrous sheath polypeptide of mouse sperm: structural and functional similarities to the A-kinase anchoring proteins. Dev Biol. 1994 Sep;165(1):272-84
    • Latest
      J:352416 Wei H, et al., A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in humans and mice. Clin Transl Med. 2023 Dec;13(12):e1463
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory