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Btbd18 Gene Detail
Summary
  • Symbol
    Btbd18
  • Name
    BTB (POZ) domain containing 18
  • Feature Type
    protein coding gene
  • IDs
    MGI:3650217
    NCBI Gene: 100270744
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:84659079-84668780 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 49.45 cM
Strain
Comparison
more
  • SNPs within 2kb
    46 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3650217
protein coding gene Chr2:84659072-84668789 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025902
protein coding gene Chr2:85341612-85343999 (+)
A/J MGP_AJ_G0025876
protein coding gene Chr2:82037920-82052145 (+)
AKR/J MGP_AKRJ_G0025846
protein coding gene Chr2:84151879-84164880 (+)
BALB/cJ MGP_BALBcJ_G0025873
protein coding gene Chr2:82172686-82184593 (+)
C3H/HeJ MGP_C3HHeJ_G0025632
protein coding gene Chr2:84400981-84409883 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026319
protein coding gene Chr2:87983469-88000730 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023721
protein coding gene Chr2:78869384-78879225 (+)
CAST/EiJ MGP_CASTEiJ_G0025093
protein coding gene Chr2:84922102-84932587 (+)
CBA/J MGP_CBAJ_G0025613
protein coding gene Chr2:91132984-91135347 (+)
DBA/2J MGP_DBA2J_G0025744
protein coding gene Chr2:81582581-81584944 (+)
FVB/NJ MGP_FVBNJ_G0025707
protein coding gene Chr2:80826469-80841900 (+)
LP/J MGP_LPJ_G0025832
protein coding gene Chr2:85142916-85145279 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025737
protein coding gene Chr2:93438768-93467641 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026375
protein coding gene Chr2:84380029-84393244 (+)
PWK/PhJ MGP_PWKPhJ_G0024837
protein coding gene Chr2:81416957-81427240 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024641
protein coding gene Chr2:84534728-84545144 (+)
WSB/EiJ MGP_WSBEiJ_G0025163
protein coding gene Chr2:85054750-85065345 (+)



Homology
more
  • Human Ortholog
    BTBD18, BTB domain containing 18
  • Vertebrate Orthologs
    6
  • Human Ortholog
    BTBD18, BTB domain containing 18
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 643376
    neXtProt AC: NX_B2RXH4
    UniProt: B2RXH4

  • Chr Location
    11q12.1; chr11:57743514-57753176 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    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 increased male germ cell apoptosis and arrested spermiogenesis resulting in azoospermia and male infertility.
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
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000086598 Ensembl Gene Model | MGI Sequence Detail 9702 C57BL/6J ±  kb
    transcript ENSMUST00000133437 Ensembl | MGI Sequence Detail 3052 Not Applicable  
    polypeptide ENSMUSP00000142247 Ensembl | MGI Sequence Detail 723 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 13
    References
    more
    • Summaries
      All 18
      Developmental Gene Expression 1
      Gene Ontology 2
      Phenotypes 7
    • Earliest
      J:100298 Spitz F, et al., Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet. 2005 Aug;37(8):889-93
    • Latest
      J:240025 Zhou L, et al., BTBD18 Regulates a Subset of piRNA-Generating Loci through Transcription Elongation in Mice. Dev Cell. 2017 Mar 13;40(5):453-466.e5

    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
    03/31/2020
    MGI 6.15
    The Jackson Laboratory