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Fkbp8 Gene Detail
Summary
  • Symbol
    Fkbp8
  • Name
    FK506 binding protein 8
  • Synonyms
    38kDa, Fkbp38
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341070
    NCBI Gene: 14232
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:70980374-70987978 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.15 cM, cytoband C1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    159 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341070
 protein coding gene Chr8:70980371-70987978 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033711
 protein coding gene Chr8:70799979-70807295 (+)
A/J MGP_AJ_G0033694
 protein coding gene Chr8:67926015-67933799 (+)
AKR/J MGP_AKRJ_G0033619
 protein coding gene Chr8:69857619-69864784 (+)
BALB/cJ MGP_BALBcJ_G0033690
 protein coding gene Chr8:68160153-68167409 (+)
C3H/HeJ MGP_C3HHeJ_G0033400
 protein coding gene Chr8:70504720-70513167 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034207
 protein coding gene Chr8:73477624-73486184 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031151
 protein coding gene Chr8:62741123-62749969 (+)
CAST/EiJ MGP_CASTEiJ_G0032725
 protein coding gene Chr8:69987065-69995589 (+)
CBA/J MGP_CBAJ_G0033378
 protein coding gene Chr8:76115125-76123424 (+)
DBA/2J MGP_DBA2J_G0033532
 protein coding gene Chr8:67642381-67649673 (+)
FVB/NJ MGP_FVBNJ_G0033473
 protein coding gene Chr8:66761467-66769078 (+)
LP/J MGP_LPJ_G0033619
 protein coding gene Chr8:70825571-70834428 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033516
 protein coding gene Chr8:78783191-78790507 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034225
 protein coding gene Chr8:70042227-70049558 (+)
PWK/PhJ MGP_PWKPhJ_G0032433
 protein coding gene Chr8:66942084-66949862 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032269
 protein coding gene Chr8:69009099-69016400 (+)
WSB/EiJ MGP_WSBEiJ_G0032840
 protein coding gene Chr8:70404496-70411924 (+)



Homology
more
  • Human Ortholog
    FKBP8, FKBP prolyl isomerase 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FKBP8, FKBP prolyl isomerase 8
  • Synonyms
    FKBP38, FKBPr38
  • Links
    NCBI Gene ID: 23770
    neXtProt AC: NX_Q14318
    UniProt: Q14318

  • Chr Location
    19p13.11; chr19:18531751-18544077 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Fkbp8 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
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
    39 phenotypes from 3 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    18 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 null mice display embryonic lethality, ventralization of neural cell fates, caudal neural tube dilation, and small eyes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    56
  • GO References
    11
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
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
    736
  • Tissues
    5
  • cDNA Data
    259
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019428 Ensembl Gene Model | MGI Sequence Detail 7605 C57BL/6J ±  kb
    transcript ENSMUST00000119698 Ensembl | MGI Sequence Detail 1799 Not Applicable  
    polypeptide ENSMUSP00000114069 Ensembl | MGI Sequence Detail 403 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000007544 peptidyl-prolyl cis-trans isomerase FKBP8
      (term hierarchy)
    • EC
      5.2.1.8
    • InterPro Domains
      IPR001179 FKBP-type peptidyl-prolyl cis-trans isomerase domain
      IPR050754 Immunophilin FKBP-type domain-containing protein
      IPR046357 Peptidyl-prolyl cis-trans isomerase domain superfamily
      IPR011990 Tetratricopeptide-like helical domain superfamily
      IPR019734 Tetratricopeptide repeat
    • GlyGen
      O35465 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 267
      Genomic 1
      cDNA 260
      Primer pair 6

      Microarray probesets 3
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:54154 Pedersen KM, et al., muFKBP38: a novel murine immunophilin homolog differentially expressed in Schwannoma cells and central nervous system neurons in vivo. Electrophoresis. 1999 Feb;20(2):249-55
    • Latest
      J:298293 Tian T, et al., FKBP8 variants are risk factors for spina bifida. Hum Mol Genet. 2020 Nov 4;29(18):3132-3144
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory