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Btbd8 Gene Detail
Summary
  • Symbol
    Btbd8
  • Name
    BTB domain containing 8
  • Synonyms
    A830010M20Rik, EG627196, Gm16115, mKIAA1107
  • Feature Type
    protein coding gene
  • IDs
    MGI:3646208
    NCBI Gene: 100503185
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:107585863-107659073 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 52.23 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1474 from dbSNP Build 142
  • Strain Annotations
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3646208
 protein coding gene Chr5:107585796-107660426 (+)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    BTBD8, BTB domain containing 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BTBD8, BTB domain containing 8
  • Synonyms
    KIAA1107
  • Links
    NCBI Gene ID: 284697
    neXtProt AC: NX_Q5XKL5
    UniProt: Q5XKL5

  • Chr Location
    1p22.1; chr1:92080305-92184725 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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.
Female mice homozygous for a null mutation display reduced susceptibility to induced colitis, enhanced intestinal barrier integrity, increased intestinal stem cell proliferation and goblet cell numbers, and reduced macrophage cytokine production.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    6
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
    783
  • Tissues
    41
  • cDNA Data
    31
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000111375 Ensembl Gene Model | MGI Sequence Detail 73211 C57BL/6J ±  kb
    transcript ENSMUST00000211896 Ensembl | MGI Sequence Detail 5256 Not Applicable  
    polypeptide ENSMUSP00000148277 Ensembl | MGI Sequence Detail 1751 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      cDNA 31
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140988, MGI:2445097, MGI:3802151
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 2
      Gene Ontology 6
      Phenotypes 10
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:349252 Yang X, et al., Btbd8 deficiency reduces susceptibility to colitis by enhancing intestinal barrier function and suppressing inflammation. Front Immunol. 2024;15:1382661
    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