BLNK (B cell linker)

Gene

• Entrez ID: 29760
• Gene name: B cell linker
• Gene symbol: BLNK
• Synonyms: AGM4, BASH, BLNK-S, LY57, SLP-65, SLP65, bca
• Chromosome: 10
• Chromosome location: 10q24.1
• 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 function

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554906579	C>-	Pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029539	hsa-miR-26b-5p	Microarray	19088304
MIRT821970	hsa-miR-1302	CLIP-seq
MIRT821971	hsa-miR-3122	CLIP-seq
MIRT821972	hsa-miR-3199	CLIP-seq
MIRT821973	hsa-miR-371-5p	CLIP-seq
MIRT821974	hsa-miR-371b-5p	CLIP-seq
MIRT821975	hsa-miR-3913-5p	CLIP-seq
MIRT821976	hsa-miR-4298	CLIP-seq
MIRT821977	hsa-miR-4670-3p	CLIP-seq
MIRT821978	hsa-miR-513c	CLIP-seq
MIRT821979	hsa-miR-514b-5p	CLIP-seq
MIRT821973	hsa-miR-371-5p	CLIP-seq
MIRT821974	hsa-miR-371b-5p	CLIP-seq
MIRT1942949	hsa-miR-4428	CLIP-seq
MIRT821978	hsa-miR-513c	CLIP-seq
MIRT821979	hsa-miR-514b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005068	Function	Transmembrane receptor protein tyrosine kinase adaptor activity	TAS	9697839
GO:0005515	Function	Protein binding	IPI	9697839, 16912232, 16969585, 21822214, 21930792, 24728074
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA	9697839
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	TAS	9697839
GO:0006959	Process	Humoral immune response	TAS	9697839
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IDA	9697839
GO:0019899	Function	Enzyme binding	IPI	9697839
GO:0030183	Process	B cell differentiation	NAS	10583958
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IDA	9341187
GO:0035591	Function	Signaling adaptor activity	IDA	9697839
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0042169	Function	SH2 domain binding	IDA	9697839
GO:0050853	Process	B cell receptor signaling pathway	IDA	9697839
GO:1990782	Function	Protein tyrosine kinase binding	IPI	9697839

Other IDs

• MIM: 604515
• HGNC: 14211
• e!Ensembl: ENSG00000095585

Protein

• UniProt ID: Q8WV28
• Protein name: B-cell linker protein (B-cell adapter containing a SH2 domain protein) (B-cell adapter containing a Src homology 2 domain protein) (Cytoplasmic adapter protein) (Src homology 2 domain-containing leukocyte protein of 65 kDa) (SLP-65)
• Protein function: Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of
• PDB: 6YLU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00017	SH2	346 → 429	SH2 domain	Domain

• Sequence:

  MDKLNKITVPASQKLRQLQKMVHDIKNNEGGIMNKIKKLKVKAPPSVPRRDYASESPADE
  EEQWSDDFDSDYENPDEHSDSEMYVMPAEENADDSYEPPPVEQETRPVHPALPFARGEYI
  DNRSSQRHSPPFSKTLPSKPSWPSEKARLTSTLPALTALQKPQVPPKPKGLLEDEADYVV
  PVEDNDENYIHPTESSSPPPEKAPMVNRSTKPNSSTPASPPGTASGRNSGAWETKSPPPA
  APSPLPRAGKKPTTPLKTTPVASQQNASSVCEEKPIPAERHRGSSHRQEAVQSPVFPPAQ
  KQIHQKPIPLPRFTEGGNPTVDGPLPSFSSNSTISEQEAGVLCKPWYAGACDRKSAEEAL
  HRSNKDGSFLIRKSSGHDSKQPYTLVVFFNKRVYNIPVRFIEATKQYALGRKKNGEEYFG
  SVAEIIRNHQHSPLVLIDSQNNTKDSTRLKYAVKVS

• Sequence length: 456

Pathways

KEGG:

NF-kappa B signaling pathway
Osteoclast differentiation
B cell receptor signaling pathway
Epstein-Barr virus infection
Primary immunodeficiency

Reactome:

Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agammaglobulinemia	Agammaglobulinemia, Agammaglobulinemia, non-Bruton type, AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE, Autosomal agammaglobulinemia	rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404	25893637, 10583958
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Neutropenia	Neutropenia	rs879253882
Osteomyelitis	Osteomyelitis	rs11125529, rs10936599, rs7675998, rs398652, rs755017

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital epicanthus	Congenital Epicanthus
Conjunctivitis	Conjunctivitis
High palate	Byzanthine arch palate
Hypogammaglobulinemia	Hypogammaglobulinemia
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Malabsorption syndrome	Malabsorption Syndrome
Otitis media	Chronic otitis media, Recurrent otitis media	rs601338, rs1047781, rs1800028
Sinusitis	Sinusitis, Chronic sinusitis