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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:133443085-133484319 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 56.18 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    898 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88216
 protein coding gene ChrX:133443083-133484366 (-)
129S1/SvImJ ENSMUSG00200047238
 protein coding gene ChrX:112507273-112548132 (-)
A/J ENSMUSG00195046664
 protein coding gene ChrX:116369204-116410064 (-)
AKR/J ENSMUSG00220012959
 protein coding gene ChrX:109980350-110021186 (-)
BALB/cJ ENSMUSG00180035596
 protein coding gene ChrX:112787376-112828228 (-)
C3H/HeJ ENSMUSG00175031856
 protein coding gene ChrX:116635741-116676585 (-)
C57BL/6NJ ENSMUSG00215044284
 protein coding gene ChrX:113149507-113190316 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033393
 protein coding gene ChrX:123330424-123371342 (-)
CAST/EiJ ENSTCUG00005037827
 protein coding gene ChrX:113965016-114005985 (-)
CBA/J ENSMUSG00210040690
 protein coding gene ChrX:113537370-113578213 (-)
DBA/2J ENSMUSG00185029385
 protein coding gene ChrX:127461817-127502653 (-)
FVB/NJ ENSMUSG00205011255
 protein coding gene ChrX:112158039-112198834 (-)
JF1/MsJ ENSUMUG00000022949
 protein coding gene ChrX:146611091-146653845 (-)
LP/J ENSMUSG00230035939
 protein coding gene ChrX:134150478-134191326 (-)
NOD/ShiLtJ ENSMUSG00190032384
 protein coding gene ChrX:112965768-113006575 (-)
NZO/HlLtJ ENSMUSG00225036380
 protein coding gene ChrX:138806175-138847142 (-)
PWK/PhJ ENSLUMG00010009053
 protein coding gene ChrX:111279985-111321112 (-)
SPRET/EiJ ENSMSPG00010037026
 protein coding gene ChrX:116139310-116179757 (-)
WSB/EiJ ENSIUOG00005037664
 protein coding gene ChrX:113704926-113745788 (-)



Homology
more
  • Human Ortholog
    BTK, Bruton tyrosine kinase
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BTK, Bruton tyrosine kinase
  • Synonyms
    AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA
  • Links
    NCBI Gene ID: 695
    UniProt: Q06187

  • Chr Location
    Xq22.1; chrX:101349338-101390796 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Btk mouse models; 7 with human BTK associations

Human Disease Mouse Models
      
IDs
 View 8 models
      
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    47 phenotypes from 9 alleles in 15 genetic backgrounds
    37 phenotypes from multigenic genotypes
    279 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.
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
    124
  • GO References
    26
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
membraneless 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
    625
  • Tissues
    5
  • cDNA Data
    31
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 435
      Developmental Gene Expression 3
      Diseases 5
      Gene Ontology 26
      Phenotypes 279
    • Earliest
      J:109969 Amsbaugh DF, et al., Genetic control of the antibody response to type 3 pneumococcal polysaccharide in mice. I. Evidence that an X-linked gene plays a decisive role in determining responsiveness. J Exp Med. 1972 Oct 1;136(4):931-49
    • Latest
      J:391205 Londregan J, et al., Notch2 signaling instructs viral and bacterial TLR responsiveness in B cells. Cell Rep. 2026 Jul 30;45(8):117748
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory