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Btk Gene Detail
Summary
  • Symbol
    Btk
  • Name
    Bruton agammaglobulinemia tyrosine kinase
  • Synonyms
    Bruton's tyrosine kinase, xid, X-linked immune deficiency
  • Feature Type
    protein coding gene
  • IDs
    MGI:88216
    NCBI Gene: 12229
  • Gene Overview
    MyGene.info: BTK
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:134542336-134583570 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 56.18 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    170 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88216
protein coding gene ChrX:134542334-134583624 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036071
protein coding gene ChrX:131724356-131767856 (-)
A/J MGP_AJ_G0036051
protein coding gene ChrX:131143071-131184489 (-)
AKR/J MGP_AKRJ_G0035972
protein coding gene ChrX:135357583-135399450 (-)
BALB/cJ MGP_BALBcJ_G0036044
protein coding gene ChrX:129579210-129625954 (-)
C3H/HeJ MGP_C3HHeJ_G0035746
protein coding gene ChrX:131803023-131848057 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036566
protein coding gene ChrX:135614141-135655334 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033393
protein coding gene ChrX:123330424-123371342 (-)
CAST/EiJ MGP_CASTEiJ_G0035035
protein coding gene ChrX:112674556-112720904 (-)
CBA/J MGP_CBAJ_G0035725
protein coding gene ChrX:139676759-139721371 (-)
DBA/2J MGP_DBA2J_G0035878
protein coding gene ChrX:130454289-130499155 (-)
FVB/NJ MGP_FVBNJ_G0035819
protein coding gene ChrX:129780258-129822084 (-)
LP/J MGP_LPJ_G0035971
protein coding gene ChrX:132601515-132649835 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035848
protein coding gene ChrX:147032351-147080299 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036595
protein coding gene ChrX:131156355-131200718 (-)
PWK/PhJ MGP_PWKPhJ_G0034726
protein coding gene ChrX:109616511-109659708 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034557
protein coding gene ChrX:113318925-113359893 (-)
WSB/EiJ MGP_WSBEiJ_G0035172
protein coding gene ChrX:129520946-129564412 (-)



Homology
more
  • Human Ortholog
    BTK, Bruton tyrosine kinase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BTK, Bruton tyrosine kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA
  • Links
    NCBI Gene ID: 695
    neXtProt AC: NX_Q06187
    UniProt: Q06187

  • Chr Location
    Xq22.1; chrX:101349447-101390796 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Btk mouse models; 2 with human BTK associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 9 alleles in 15 genetic backgrounds
    37 phenotypes from multigenic genotypes
    242 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.
Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031264 Ensembl Gene Model | MGI Sequence Detail 41235 C57BL/6J ±  kb
    transcript ENSMUST00000033617 Ensembl | MGI Sequence Detail 2540 Not Applicable  
    polypeptide ENSMUSP00000033617 Ensembl | MGI Sequence Detail 659 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 18
      cDNA 33
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15473, MGD-MRK-1683, MGI:2147899
    References
    more
    • Summaries
      All 356
      Developmental Gene Expression 3
      Diseases 5
      Gene Ontology 20
      Phenotypes 242
    • Earliest
      J:34558 Scher I, et al., X-linked B-lymphocyte immune defect in CBA/N mice. II. Studies of the mechanisms underlying the immune defect. J Exp Med. 1975 Sep 1;142(3):637-50
    • Latest
      J:263173 Bou Ghanem EN, et al., Nasopharyngeal Exposure to Streptococcus pneumoniae Induces Extended Age-Dependent Protection against Pulmonary Infection Mediated by Antibodies and CD138(+) Cells. J Immunol. 2018 Jun 1;200(11):3739-3751

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory