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

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
SNPs SNP information provided by dbSNP.
6
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
PAX5 Repression 18697940
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191305 1057 ENSG00000136573
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  B cell receptor signaling pathway   RUNX1 regulates transcription of genes involved in BCR signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Maturity-onset diabetes of the young type 11 Pathogenic rs886037620 RCV000013115
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic lupus erythematosus Pathogenic rs1307379746, rs758750492 RCV000758184
RCV000758185
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (24)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLK-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (111)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 25926555
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 24632671, 25846585
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 25926555 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 27088737, 28713926
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 35853630 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 19644876, 38155384 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 19503088, 21068098, 21452313, 21765104, 22678060, 26895230, 28925718, 29193869 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27088737
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 19796918, 22003931, 22696686, 23635951, 23899688, 24702955, 25846585, 25972485, 26092158, 26821283, 27105348, 27466937, 30478436
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 22678060, 22696686, 24632671, 26821283, 30478436, 34637583 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only