Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	640
Gene name	BLK proto-oncogene, Src family tyrosine kinase
Gene symbol	BLK
Synonyms (NCBI Gene)	MODY11
Chromosome	8
Chromosome location	8p23.1
Summary	This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimul

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1042695	T>G	Pathogenic, likely-benign	Genic downstream transcript variant, 3 prime UTR variant
rs55758736	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs73663163	C>A,G,T	Benign, likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs146505280	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs758750492	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886037621	G>T	Pathogenic	Downstream transcript variant

Show/Hide all (1)

Transcription factor	Regulation	Reference
PAX5	Repression	18697940

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002429	Process	Immune response-activating cell surface receptor signaling pathway	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	30356214
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	7845672
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	876631
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IMP	23555801
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	16273093, 21978998, 22939624, 24658140, 24728074, 25416956, 28514442, 29892012, 31515488, 31980649, 32296183, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	30356214
GO:0030154	Process	Cell differentiation	IBA
GO:0032024	Process	Positive regulation of insulin secretion	IMP	19667185
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	TAS	2404338
GO:0050853	Process	B cell receptor signaling pathway	IDA	876631
GO:0050853	Process	B cell receptor signaling pathway	IMP	23555801

MIM	HGNC	e!Ensembl
191305	1057	ENSG00000136573

P51451

Protein name

Tyrosine-protein kinase Blk (EC 2.7.10.2) (B lymphocyte kinase) (p55-Blk)

Protein function

Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated co

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	64 → 110	SH3 domain	Domain
PF00017	SH2	124 → 205	SH2 domain	Domain
PF07714	PK_Tyr_Ser-Thr	241 → 490	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary glands and hair follicles. {ECO:0000269|PubMed:19667185}.

Sequence

MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDK
HFVVALYDYTAMNDRDLQMLKGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLE
MERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAFSLSVKDVTTQGELIKHYKIR
CLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLY
AVVTKEPIYIVTEYMARGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRD
LRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWS
FGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER
PTFEFLQSVLEDFYTATERQYELQP

Sequence length

505

Interactions

View interactions

	KEGG		Reactome
	B cell receptor signaling pathway		RUNX1 regulates transcription of genes involved in BCR signaling

242

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Maturity-onset diabetes of the young type 11	Pathogenic	rs886037620	RCV000013115
Systemic lupus erythematosus	Pathogenic	rs1307379746, rs758750492	RCV000758184 RCV000758185

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BLK-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs377160616, rs141947199, rs111866701, rs898140517, rs61199332, rs1334454883, rs2486367798, rs1180849034, rs370810777, rs147022480, rs77401687, rs143699141, rs1438606997, rs2486498063, rs139119999 View all (10 more)	RCV003933549 RCV003933795 RCV003943750 RCV003973751 RCV003914831 RCV003402303 RCV003399606 RCV003391492 RCV004750383 RCV004750398 RCV003932494 RCV003902413 RCV003896789 RCV003921714 RCV003899857 RCV003899469 RCV003917191 RCV003951659 RCV003949521 RCV003969615 RCV003969157 RCV003411696 RCV003938143 RCV003940517 RCV003945882
Cervical cancer	Benign	rs80167929	RCV005924990
Lung cancer	Benign	rs6983727	RCV005922978
Maturity-onset diabetes of the young	Likely benign; Uncertain significance; Benign	rs115316286, rs148891021, rs554033678, rs886062594, rs761744676, rs886062589, rs886062590, rs886062591, rs559867785, rs570307048, rs538706235, rs151046937, rs142686759, rs769734763	RCV000294481 RCV000291130 RCV000395605 RCV000332944 RCV000349687 RCV000385519 RCV000305990 RCV000402101 RCV000302605 RCV000361858 RCV000389022 RCV000342246 RCV000346097 RCV000387495
Monogenic diabetes	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs141865425, rs55758736, rs146083915, rs375173243, rs115068920, rs574731221, rs575123730, rs567720261, rs146505280, rs202028021	RCV005361107 RCV000445395 RCV000445552 RCV000445472 RCV000445468 RCV000664118 RCV000664119 RCV000664120 RCV005357984 RCV005359885
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs540629012, rs80167929	RCV005917750 RCV005924991
Thymoma	Benign	rs80167929	RCV005924992
Thyroid cancer, nonmedullary, 1	Likely benign	rs773963245	RCV005933275

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	35766871
Adenocarcinoma of Lung	Associate	30353687
Agammaglobulinemia	Associate	25926555
Amyotrophic lateral sclerosis 1	Associate	35853630
Antiphospholipid Syndrome	Associate	19644876, 38155384
Arthritis Rheumatoid	Associate	19503088, 21068098, 21452313, 21765104, 22678060, 26895230, 28925718, 29193869
Autoimmune Diseases	Associate	22678060, 22696686, 24632671, 26821283, 30478436, 34637583
Castleman Disease	Associate	34686774
Common Variable Immunodeficiency	Associate	25926555
Dermatomyositis	Associate	24632671, 25846585
Diabetes Mellitus	Associate	32028929, 36208030
Diabetes Mellitus Type 2	Associate	28095440, 31638168, 36208030
Familial duodenal atresia	Associate	32028929
Glioblastoma	Associate	30058478
Glomerulonephritis IGA	Associate	24458077
Immunologic Deficiency Syndromes	Associate	28713926
Inflammation	Associate	38155384
Kidney Diseases	Associate	23023776
Kidney Diseases	Inhibit	26084932
Leukemia Lymphocytic Chronic B Cell	Associate	12586635, 36287107
Lung Diseases Interstitial	Associate	25846585
Lupus Erythematosus Systemic	Associate	18204098, 19180478, 19442287, 19796918, 20131239, 20169177, 21068098, 21765104, 21792837, 21905002, 21978998, 22678060, 22696686, 23049788, 24458077 View all (7 more)
Lupus Nephritis	Associate	23049788, 24386384
Lymphoma	Associate	12586635, 19351960
Lymphoma T Cell Cutaneous	Associate	19351960
Melanoma	Associate	31101498
Myositis	Associate	25846585
Neoplasms	Associate	30353687
Neuromyelitis Optica	Associate	34637583
Pancreatic Neoplasms	Associate	33213062
Polycystic Ovary Syndrome	Associate	28068351
Polymyositis	Associate	24632671, 25846585
Rhinitis Allergic	Associate	28713926
Scleroderma Systemic	Associate	19796918, 20131239, 25569146
Sjogren's Syndrome	Associate	19714582, 24097067, 29070082
Tuberculosis	Associate	36214761

BLK (BLK proto-oncogene, Src family tyrosine kinase)