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

2003-08-01  

Identity

HGNC
BLK
LOCATION
8p23.1
LOCUSID
640
ALIAS
MODY11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 640
MIM: 191305
HGNC: 1057
Ensembl: ENSG00000136573

Variants:

dbSNP: 640
ClinVar: 640
TCGA: ENSG00000136573
COSMIC: BLK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136573ENST00000259089P51451
ENSG00000136573ENST00000529894E9PJX5
ENSG00000136573ENST00000645242E9PJX5

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersREACTOMER-HSA-983695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198381932009Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.332
182040982008Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.309
182040982008Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.309
195030882009REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.131
224469612012Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.62
210680982011Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus.51
197969182010Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.47
196671852009Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.40
208810112011Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.31
240236122013Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility.29

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/802/blk