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BLNK B cell linker [ Homo sapiens (human) ]

Gene ID: 29760, updated on 3-May-2020

Summary

Official Symbol
BLNKprovided by HGNC
Official Full Name
B cell linkerprovided by HGNC
Primary source
HGNC:HGNC:14211
See related
Ensembl:ENSG00000095585 MIM:604515
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65
Summary
This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
Expression
Broad expression in spleen (RPKM 11.8), lymph node (RPKM 11.8) and 20 other tissues See more
Orthologs

Genomic context

See BLNK in Genome Data Viewer
Location:
10q24.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (96189171..96271576, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97951455..98031333, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ENTPD1 antisense RNA 1 Neighboring gene microRNA 3157 Neighboring gene RNA, U6 small nuclear 271, pseudogene Neighboring gene zinc finger protein 518A Neighboring gene nucleophosmin 1 pseudogene 25 Neighboring gene DNA nucleotidylexotransferase Neighboring gene oligodendrocytic myelin paranodal and inner loop protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase adaptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
humoral immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
B-cell linker protein
Names
B cell adaptor containing SH2 domain
B-cell activation
B-cell adapter containing a SH2 domain protein
B-cell adapter containing a Src homology 2 domain protein
Src homology 2 domain-containing leukocyte protein of 65 kDa
Src homology [SH2] domain-containing leukocyte protein of 65 kD
cytoplasmic adapter protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007575.1 RefSeqGene

    Range
    9994..89872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_21

mRNA and Protein(s)

  1. NM_001114094.1NP_001107566.1  B-cell linker protein isoform 2

    See identical proteins and their annotated locations for NP_001107566.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the mid-coding region compared to variant 1, resulting in a shorter isoform (2, also known as BLNK-s) compared to isoform 1.
    Source sequence(s)
    AF068181, AI307343, BC018906, DA045252
    Consensus CDS
    CCDS44464.1
    UniProtKB/Swiss-Prot
    Q8WV28
    Related
    ENSP00000360218.2, ENST00000371176.6
    Conserved Domains (1) summary
    cd09929
    Location:313431
    SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)
  2. NM_001258440.1NP_001245369.1  B-cell linker protein isoform 3

    See identical proteins and their annotated locations for NP_001245369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region compared to variant 1, resulting in a shorter isoform (3) compared to isoform 1.
    Source sequence(s)
    AI307343, AM180337, DA045252
    Consensus CDS
    CCDS58091.1
    UniProtKB/Swiss-Prot
    Q8WV28
    Related
    ENSP00000397487.2, ENST00000413476.6
    Conserved Domains (1) summary
    cl15255
    Location:336402
    SH2; Src homology 2 (SH2) domain
  3. NM_001258441.1NP_001245370.1  B-cell linker protein isoform 4

    See identical proteins and their annotated locations for NP_001245370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame exons in the mid- and 3' coding regions compared to variant 1, resulting in a shorter isoform (4) compared to isoform 1.
    Source sequence(s)
    AI307343, AM180332, DA045252
    UniProtKB/TrEMBL
    Q2MD54
    Conserved Domains (1) summary
    cl15255
    Location:313379
    SH2; Src homology 2 (SH2) domain
  4. NM_001258442.1NP_001245371.1  B-cell linker protein isoform 5

    See identical proteins and their annotated locations for NP_001245371.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks 3 in-frame exons in the mid- and 3' coding regions, and uses alternate in-frame donor and acceptor splice sites compared to variant 1, resulting in a shorter isoform (5) compared to isoform 1.
    Source sequence(s)
    AI307343, AM180327, DA045252
    Consensus CDS
    CCDS73171.1
    UniProtKB/TrEMBL
    Q2MD59
    Related
    ENSP00000391924.3, ENST00000427367.6
    Conserved Domains (1) summary
    cl15255
    Location:231297
    SH2; Src homology 2 (SH2) domain
  5. NM_013314.4NP_037446.1  B-cell linker protein isoform 1

    See identical proteins and their annotated locations for NP_037446.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC021037, AF068180, AI307343, BC018906, DA045252
    Consensus CDS
    CCDS7446.1
    UniProtKB/Swiss-Prot
    Q8WV28
    Related
    ENSP00000224337.5, ENST00000224337.9
    Conserved Domains (1) summary
    cd09929
    Location:336454
    SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

RNA

  1. NR_047680.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI307343, BC018906, BC110298, DA045252
  2. NR_047681.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two internal exons, and uses an alternate donor splice site at another internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI307343, AM180338, BC018906, DA045252
  3. NR_047682.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two internal exons compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI307343, AM180339, BC018906, DA045252
  4. NR_047683.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two consecutive internal exons and another internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI307343, AM180340, BC018906, DA045252

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    96189171..96271576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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