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

Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
640
Gene name Gene Name - the full gene name approved by the HGNC.
BLK proto-oncogene, Src family tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BLK
Synonyms (NCBI Gene) Gene synonyms aliases
MODY11
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191305 1057 ENSG00000136573
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diabetes Mellitus Maturity-onset diabetes of the young type 11 rs886037620, rs886037621 N/A
Systemic lupus erythematosus systemic lupus erythematosus rs1307379746, rs758750492 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Barrett esophagus Barrett's esophagus N/A N/A GWAS
Mason type diabetes maturity onset diabetes mellitus in young N/A N/A ClinVar
Monogenic Diabetes monogenic diabetes N/A N/A ClinVar, GenCC
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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