Official Symbol

BLNKprovided by HGNC

Official Full Name

B-cell linkerprovided by HGNC

Primary Source

HGNC:14211

See related

Ensembl:ENSG00000095585; HPRD:05153; 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

BASH; LY57; SLP65; BLNK-S; SLP-65; MGC111051; BLNK

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 encoding different isoforms have been found for this gene. [provided by RefSeq]

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 10; Location: 10q23.2-q23.33See BLNK in MapViewer

Preferred Names

B-cell linker

Names

B-cell linker

OTTHUMP00000020168

B cell linker protein

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

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

   9993..89871

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   GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

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

   Description

   Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (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

   Conserved Domains (1) summary

   cd00173
   Location:322 – 411
   Blast Score: 162

   SH2; Src homology 2 domains; Signal transduction, involved in recognition of phosphorylated tyrosine (pTyr). SH2 domains typically bind pTyr-containing ligands via two surface pockets, a pTyr and hydrophobic binding pocket, allowing proteins with SH2...

2. NM_013314.3 → NP_037446.1  B-cell linker isoform 1

   Description

   Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

   Source sequence(s)

   AF068180,AI307343,BC018906,DA045252

   Consensus CDS

   CCDS7446.1

   UniProtKB/Swiss-Prot

   Q8WV28

   Conserved Domains (1) summary

   cd00173
   Location:345 – 434
   Blast Score: 163

   SH2; Src homology 2 domains; Signal transduction, involved in recognition of phosphorylated tyrosine (pTyr). SH2 domains typically bind pTyr-containing ligands via two surface pockets, a pTyr and hydrophobic binding pocket, allowing proteins with SH2...

RefSeqs of Annotated Genomes: Build 37.1

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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000010.10

   Range

   97951454..98031332, complement

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   GenBank FASTA Sequence Viewer (Graphics)

2. NT_030059.13 

   Range

   48755918..48835796, complement

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   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000053.1

   Range

   91692655..91772533, complement

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   GenBank FASTA Sequence Viewer (Graphics)

2. NW_924884.1 

   Range

   8695472..8775350, complement

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   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000142.1

   Range

   91579452..91659253

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   GenBank FASTA Sequence Viewer (Graphics)

2. NW_001838005.2 

   Range

   2460568..2540369

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   GenBank FASTA Sequence Viewer (Graphics)