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Fkbp4 Gene Detail
Summary
  • Symbol
    Fkbp4
  • Name
    FK506 binding protein 4
  • Synonyms
    FKBP52, FKBP-52
  • Feature Type
    protein coding gene
  • IDs
    MGI:95543
    NCBI Gene: 14228
  • Gene Overview
    MyGene.info: FKBP4
Location & Maps
more
  • Sequence Map
    Chr6:128429735-128438677 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8943 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FKBP4, FK506 binding protein 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FKBP4, FK506 binding protein 4
    Orthology source: HomoloGene
  • Synonyms
    FKBP51, FKBP52, FKBP59, HBI, Hsp56, p52, PPIase
  • Links
    NCBI Gene ID: 2288
    neXtProt AC: NX_Q02790

  • Chr Location
    12p13.33; chr12:2794942-2805423 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fkbp4 mouse models

Human Disease Mouse Models
       Androgen Insensitivity Syndrome; AIS   OMIM: 300068 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
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  • Phenotype Summary
    36 phenotypes from 2 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024637 VEGA Gene Model | MGI Sequence Detail 8943 C57BL/6J ±  kb
transcript OTTMUST00000060562 VEGA | MGI Sequence Detail 2217 Not Applicable  
polypeptide OTTMUSP00000029542 VEGA | MGI Sequence Detail 458 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    36 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000007540 peptidyl-prolyl cis-trans isomerase FKBP4
  • EC
  • InterPro Domains
    IPR023114 Elongated TPR repeat-containing domain
    IPR001179 FKBP-type peptidyl-prolyl cis-trans isomerase domain
    IPR031212 Peptidyl-prolyl cis-trans isomerase FKBP4
    IPR023566 Peptidyl-prolyl cis-trans isomerase, FKBP-type
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR013105 Tetratricopeptide repeat 2
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
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  • All nucleic 15
    cDNA 15

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9812, MGI:2141664, MGI:2147626
References
more
  • Summaries
    All 54
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 11
    Phenotypes 20
  • Earliest
    J:10145 Kuhner MK, et al., DNA sequences of mouse H-2 and Qa genes. Immunogenetics. 1989;30(6):458-64
  • Latest
    J:226885 Tannour-Louet M, et al., Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med. 2014 Jul;20(7):715-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory