BST1 (bone marrow stromal cell antigen 1)

2010-09-01  

Identity

HGNC
LOCATION
4p15.32
LOCUSID
ALIAS
CD157
FUSION GENES

Other Information

Locus ID:

NCBI: 683
MIM: 600387
HGNC: 1118
Ensembl: ENSG00000109743

Variants:

dbSNP: 683
ClinVar: 683
TCGA: ENSG00000109743
COSMIC: BST1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109743ENST00000265016Q10588
ENSG00000109743ENST00000382346A6NC48
ENSG00000109743ENST00000505785H0Y984
ENSG00000109743ENST00000514445H0Y8G4
ENSG00000109743ENST00000514989H0Y9Q9

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Nicotinate and nicotinamide metabolismKEGGko00760
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Nicotinate metabolismREACTOMER-HSA-196807
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712547Beta blocking agents, selectiveChemicalClinicalAnnotationassociatedPD
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
199155762009Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.471
207111772010Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.266
210449482011Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.95
212487402011Genome-wide association study confirms extant PD risk loci among the Dutch.77
210844262011Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.64
210844262011Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.64
153281572004CD157 is an important mediator of neutrophil adhesion and migration.24
247955842014Anxiety- and depression-like behavior in mice lacking the CD157/BST1 gene, a risk factor for Parkinson's disease.24
124155652002CD157, the Janus of CD38 but with a unique personality.23
206971022010Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus.21

Citation

Dessen P

BST1 (bone marrow stromal cell antigen 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-09-01

Online version: http://atlasgeneticsoncology.org/gene/51656/bst1