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

Gene

• Entrez ID: 640
• Gene name: BLK proto-oncogene, Src family tyrosine kinase
• Gene symbol: BLK
• Synonyms: 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

SNPs

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

Transcription factors

Transcription factor	Regulation	Reference
PAX5	Repression	18697940

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002431	Process	Fc receptor mediated stimulatory signaling pathway	IBA	21873635
GO:0002513	Process	Tolerance induction to self antigen	IBA	21873635
GO:0002576	Process	Platelet degranulation	IBA	21873635
GO:0002902	Process	Regulation of B cell apoptotic process	IBA	21873635
GO:0004713	Function	Protein tyrosine kinase activity	IBA	21873635
GO:0004713	Function	Protein tyrosine kinase activity	IDA	30356214
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA	21873635
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	876631
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16273093, 22939624, 24658140, 24728074, 25416956, 29892012, 31515488, 31980649, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006974	Process	Cellular response to DNA damage stimulus	IBA	21873635
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	30356214
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030889	Process	Negative regulation of B cell proliferation	IBA	21873635
GO:0031175	Process	Neuron projection development	IBA	21873635
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IBA	21873635
GO:0032024	Process	Positive regulation of insulin secretion	IMP	19667185
GO:0035556	Process	Intracellular signal transduction	TAS	2404338
GO:0043304	Process	Regulation of mast cell degranulation	IBA	21873635
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0050853	Process	B cell receptor signaling pathway	IDA	876631
GO:0050855	Process	Regulation of B cell receptor signaling pathway	IBA	21873635
GO:0050855	Process	Regulation of B cell receptor signaling pathway	TAS
GO:0070667	Process	Negative regulation of mast cell proliferation	IBA	21873635
GO:0090330	Process	Regulation of platelet aggregation	IBA	21873635
GO:0097028	Process	Dendritic cell differentiation	IBA	21873635
GO:2000670	Process	Positive regulation of dendritic cell apoptotic process	IBA	21873635

Other IDs

• MIM: 191305
• HGNC: 1057
• e!Ensembl: ENSG00000136573

Protein

• UniProt ID: 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

• Sequence:

  MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDK
  HFVVALYDYTAMNDRDLQMLKGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLE
  MERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAFSLSVKDVTTQGELIKHYKIR
  CLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
  LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLY
  AVVTKEPIYIVTEYMARGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRD
  LRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWS
  FGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER
  PTFEFLQSVLEDFYTATERQYELQP

• Sequence length: 505

Pathways

KEGG:

B cell receptor signaling pathway

Reactome:

RUNX1 regulates transcription of genes involved in BCR signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345
Diabetes mellitus	Diabetes Mellitus, Transient neonatal diabetes mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Mason type diabetes	Maturity onset diabetes mellitus in young, MODY, Maturity-onset diabetes of the young, type 11	rs80356625, rs104894237, rs587776825, rs137853236, rs137853237, rs137853238, rs1566092470, rs1463923467, rs137853243, rs137853244, rs104894006, rs80356655, rs104894008, rs193922254, rs193922259, rs193922263, rs193922264, rs193922265, rs193922268, rs193922269, rs193922272, rs193922275, rs193922280, rs193922281, rs193922284, rs193922289, rs193922291, rs193922295, rs193922300, rs193922302, rs193922313, rs193922314, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922329, rs193922330, rs193922331, rs193922336, rs193922340, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs587780344, rs587780346, rs587780357, rs587783672, rs786204676, rs151344624, rs794727775, rs794727839, rs759072800, rs797045595, rs863225280, rs864321656, rs878853246, rs886039544, rs886039386, rs886042015, rs886041690, rs886041391, rs886041820, rs886042610, rs754728827, rs1057517745, rs1057521094, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524898, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064793134, rs1064796410, rs1057520109, rs769086289, rs1085307455, rs1085307913, rs1131691483, rs765432081, rs1131692182, rs1554335441, rs762263694, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555833071, rs1554334539, rs1554334610, rs1554334613, rs193922258, rs1554334894, rs1554334905, rs1554335111, rs1554335132, rs1554335135, rs1332966015, rs746913146, rs1246464603, rs1554335573, rs1554335585, rs1554335966, rs1260178539, rs1555260207, rs1555210478, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs1555817851, rs144723656, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1554335564, rs1555212396, rs1555815396, rs1400535021, rs1555813342, rs1555815393, rs1554334872, rs1555212749, rs1555833144, rs1555212363, rs1555813267, rs1236613475, rs1554924035, rs1554913069, rs1554933565, rs766431403, rs758844607, rs771108132, rs1566092307, rs753998395, rs1565885935, rs1562711915, rs1562713041, rs1562715296, rs1562715657, rs1562717053, rs1562718043, rs1564869850, rs193922401, rs755259997, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1565887211, rs1375557127, rs1568731279, rs1562719029, rs1562715426, rs776793516, rs1568724014, rs1392795567, rs1562719705, rs1564977373, rs1598806177, rs1598809747, rs1598815016, rs1598840773, rs1598840795, rs1598841082, rs1598842886, rs1598848672, rs1598854261, rs1598854747, rs1229650809, rs1598840996, rs1583592247, rs780612692, rs1593060859, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs751279776, rs1583601365, rs1281712444, rs1593060890, rs1593060912, rs1592898255, rs1290868034, rs1191912908, rs1583601110, rs1593054210, rs1592897526, rs1600707958, rs1600710669, rs1598809697, rs1593058932, rs1593060966, rs2096270755, rs1364708195, rs1877324101	19667185
Monogenic diabetes	Monogenic diabetes	rs137852673, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs587776825, rs137853236, rs137853237, rs137853238, rs2135818776, rs1566092470, rs137853243, rs137853244, rs137853245, rs80356655, rs104894008, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs193922254, rs193922257, rs193922258, rs193922260, rs193922262, rs193922263, rs193922264, rs193922265, rs193922266, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922280, rs193922282, rs193922283, rs193922284, rs193922286, rs193922289, rs193922291, rs193922297, rs193922300, rs193922302, rs193922311, rs193922313, rs193922315, rs193922317, rs193922319, rs193922335, rs193922471, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs267607555, rs587780343, rs587780344, rs587780346, rs587780357, rs794727236, rs794727775, rs794727839, rs759072800, rs797045595, rs864321656, rs777870079, rs769268803, rs886039544, rs886039386, rs886042610, rs754728827, rs1057517745, rs1057520109, rs1057521092, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524896, rs1057524898, rs1057524900, rs1057524901, rs1057524902, rs1057524903, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064795242, rs1064793134, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307455, rs1085307913, rs765432081, rs1131692182, rs1554335441, rs762263694, rs767565869, rs1375656631, rs370375148, rs1554335616, rs769518471, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs776489992, rs1554334539, rs1554334546, rs1400535021, rs1554334610, rs1554334613, rs1415041911, rs556581174, rs1554334894, rs1554334905, rs1554335111, rs104894011, rs1554335132, rs1332966015, rs746913146, rs1554335573, rs1554335966, rs1555260207, rs1555210478, rs753998395, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs781364316, rs1555817727, rs1555817851, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1555212396, rs1555815396, rs1555813342, rs1555815393, rs1555813267, rs1236613475, rs954727530, rs369841551, rs771108132, rs1566092307, rs1562711915, rs1185622190, rs1167124132, rs1471992838, rs1562713041, rs193922340, rs556436603, rs1562715657, rs1562717053, rs1562718043, rs193922292, rs1444739794, rs1486280029, rs193922401, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1375557127, rs1568731279, rs1392795567, rs1229650809, rs1476637197, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs766956862, rs1290868034, rs1191912908, rs1593058932, rs2096270755, rs1364708195, rs1877324101
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23143596, 24532676, 20453842
Systemic lupus erythematosus	Systemic lupus erythematosus	rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576

Unknown
Disease name	Disease term	dbSNP ID	References
Pancreatic hypoplasia	Congenital hypoplasia of pancreas	rs28509441, rs193922358, rs199644078, rs1380564366, rs143517122
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency
Hepatocellular adenoma	Hepatocellular Adenoma
Hyperglycemia	Hyperglycemia
Hypoinsulinemia	Hypoinsulinaemia (disorder)
Kawasaki disease	Mucocutaneous Lymph Node Syndrome		22446961, 22446962
Lupus erythematosus	Lupus Erythematosus, Systemic		23943494, 18204098, 22654485, 26663301, 22696686, 19165918, 23053960, 18204446, 19838193, 23273568, 24091983, 23917156
Hypoglycemia	Neonatal hypoglycemia
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		19838193
Retinal diseases	Retinal Diseases
Scleroderma	Systemic Scleroderma		29293537
Sjogren`s syndrome	Sjogren`s Syndrome		24097067