About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    ChrX:134542336-134583570 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41235 bp   ±  kb flank

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

  • Chr Location
    Xq21.33-q22; chrX:101349447-101390796 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Agammaglobulinemia, X-Linked; XLA   OMIM: 300755 View 8 models
       Isolated Growth Hormone Deficiency, Type III; IGHD3   OMIM: 307200
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
less
  • Phenotype Summary
    56 phenotypes from 9 alleles in 15 genetic backgrounds
    37 phenotypes from multigenic genotypes
    231 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.
  • All Mutations and Alleles
    747
  • Chemically induced (ENU)
    3
  • Gene trapped
    735
  • Spontaneous
    1
  • Targeted
    4
  • Transgenic
    4
  • Incidental Mutations
    APF
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
less
  • 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
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019307 VEGA Gene Model | MGI Sequence Detail 41235 C57BL/6J ±  kb
transcript OTTMUST00000046138 VEGA | MGI Sequence Detail 2540 Not Applicable  
polypeptide OTTMUSP00000020834 VEGA | MGI Sequence Detail 659 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    170 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 53
    Genomic 18
    cDNA 32
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-15473, MGD-MRK-1683, MGI:2147899
References
more
  • Summaries
    All 326
    Developmental Gene Expression 3
    Diseases 5
    Gene Ontology 16
    Phenotypes 231
  • 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:229729 Alvares-Saraiva AM, et al., B-1 cells produce insulin and abrogate experimental streptozotocin-induced diabetes. Eur J Immunol. 2015 May;45(5):1452-61

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/26/2016
MGI 6.03
The Jackson Laboratory