About   Help   FAQ
Take the Alliance for Genomic Resources User Survey
Blnk Gene Detail
Summary
  • Symbol
    Blnk
  • Name
    B cell linker
  • Synonyms
    BASH, Bca, BCA, BLNK, Ly57, Ly-57, SLP-65
  • Feature Type
    protein coding gene
  • IDs
    MGI:96878
    NCBI Gene: 17060
  • Gene Overview
    MyGene.info: BLNK
Location & Maps
more
  • Sequence Map
    Chr19:40928927-40994535 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      65609 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 34.26 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    BLNK, B-cell linker
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BLNK, B-cell linker
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGM4, BASH, bca, BLNK-S, LY57, SLP65, SLP-65
  • Links
    NCBI Gene ID: 29760
    neXtProt AC: NX_Q8WV28

  • Chr Location
    10q23.2-q23.33; chr10:96191699-96271576 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 32038
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: BLNK
  • Gene Tree
    Blnk
Human Diseases
more
  • Diseases
    1 with human BLNK associations

Human Disease Mouse Models
       Agammaglobulinemia 4, Autosomal Recessive; AGM4   OMIM: 613502
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 5 alleles in 7 genetic backgrounds
    38 phenotypes from multigenic genotypes
    48 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.
  • All Mutations and Alleles
    56
  • Chemically induced (ENU)
    1
  • Gene trapped
    49
  • Targeted
    6
  • Incidental Mutations
    Mutagenetix , APF
Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    5
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
    39
  • Tissues
    19
  • cDNA Data
    16
  • Literature Summary
    3
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031860 VEGA Gene Model | MGI Sequence Detail 65609 C57BL/6J ±  kb
transcript OTTMUST00000078999 VEGA | MGI Sequence Detail 2097 Not Applicable  
polypeptide OTTMUSP00000042094 VEGA | MGI Sequence Detail 457 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    813 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    cDNA 16
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-11999, MGD-MRK-12042, MGI:1278314
References
more
  • Summaries
    All 90
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 5
    Phenotypes 48
  • Earliest
    J:2171 Rochelle JM, et al., A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus. Genomics. 1992 Sep;14(1):26-31
  • Latest
    J:233777 Ray JP, et al., The Interleukin-2-mTORc1 Kinase Axis Defines the Signaling, Differentiation, and Metabolism of T Helper 1 and Follicular B Helper T Cells. Immunity. 2015 Oct 20;43(4):690-702
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
09/13/2016
MGI 6.05 		The Jackson Laboratory