Format

Send to:

Choose Destination
    • Showing Current items.

    BLNK B cell linker [ Homo sapiens (human) ]

    Gene ID: 29760, updated on 11-Jun-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BLNK in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (96189171..96271569, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97948927..98031326, 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
    enables SH2 domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phospholipase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001114094.2NP_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)
      AC021037, 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_001258440.2NP_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)
      AC021037, 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_001258441.2NP_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)
      AC021037, AI307343, AM180332, DA045252
      UniProtKB/TrEMBL
      Q2MD54
      Conserved Domains (1) summary
      cl15255
      Location:313379
      SH2; Src homology 2 (SH2) domain
    4. NM_001258442.2NP_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)
      AC021037, 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
      ENSP00000224337.6, ENST00000224337.10
      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_047680.2 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)
      AC021037, AI307343, BC018906, BC110298, DA045252
    2. NR_047681.2 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)
      AC021037, AI307343, AM180338, BC018906, DA045252
    3. NR_047682.2 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)
      AC021037, AI307343, AM180339, BC018906, DA045252
    4. NR_047683.2 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)
      AC021037, AI307343, AM180340, BC018906, DA045252

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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..96271569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center