Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
683
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Bone marrow stromal cell antigen 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
BST1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CD157, cADPR2 |
Chromosome
Chromosome number
|
4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4p15.32 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone mar |
UniProt ID |
Q10588
|
Protein name |
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (EC 3.2.2.6) (ADP-ribosyl cyclase 2) (Bone marrow stromal cell antigen 1) (BST-1) (Cyclic ADP-ribose hydrolase 2) (cADPR hydrolase 2) (CD antigen CD157) |
Protein function |
Catalyzes both the synthesis of cyclic ADP-beta-D-ribose (cADPR) from NAD(+), and its hydrolysis to ADP-D-ribose (ADPR) (PubMed:7805847). Cyclic ADPR is known to serve as an endogenous second messenger that elicits calcium release from intracell |
PDB |
1ISF
,
1ISG
,
1ISH
,
1ISI
,
1ISJ
,
1ISM
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02267
|
Rib_hydrolayse |
40 → 280 |
ADP-ribosyl cyclase |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in various tissues including placenta, lung, liver and kidney. {ECO:0000269|PubMed:8202488}. |
Sequence |
|
Sequence length |
318 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Hypertension |
Hypertensive disease |
rs13306026 |
31423876 |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
21292315, 28892059, 25064009, 22451204, 27182965, 19915576, 22438815 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Parkinson Disease |
Parkinson Disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Arthritis Rheumatoid |
Associate
|
9691097 |
Asthma |
Associate
|
24634087 |
Attention Deficit Disorder with Hyperactivity |
Associate
|
33155823 |
Autistic Disorder |
Associate
|
24634087 |
Calcinosis Cutis |
Associate
|
22916288 |
Carcinoma Ovarian Epithelial |
Associate
|
20639476, 22916288 |
Cerebral Infarction |
Associate
|
25135788 |
Cognition Disorders |
Associate
|
30656857 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
34707185 |
Gait Ataxia |
Associate
|
30676692 |
Gait Disorders Neurologic |
Associate
|
30676692 |
Gout |
Associate
|
33155823 |
Heart Diseases |
Associate
|
30676692 |
Hemoglobinuria Paroxysmal |
Associate
|
15328157, 23922226, 29360268, 31571381 |
Inflammation |
Associate
|
15328157, 20639476, 36926335 |
Ischemic Stroke |
Associate
|
25135788 |
Leukemia Myeloid Acute |
Associate
|
28415689, 34707185 |
Mesothelioma Malignant |
Associate
|
25026285 |
Neoplasms |
Associate
|
22916288, 39291803 |
Osteosarcoma |
Associate
|
40165145 |
Ovarian Neoplasms |
Associate
|
20639476, 25026285, 36528667 |
Parkinson Disease |
Associate
|
21044948, 21248740, 21812969, 22786590, 26469904, 27299523, 30676692, 33349842, 36926335 |
Parkinson Disease |
Inhibit
|
22786590 |
Parkinson Disease |
Stimulate
|
36926335 |
Prostatic Neoplasms |
Stimulate
|
29695737 |
REM Sleep Behavior Disorder |
Associate
|
33397775 |
ST Elevation Myocardial Infarction |
Associate
|
35475279 |
Stroke |
Associate
|
25135788 |
Wolf Hirschhorn Syndrome |
Associate
|
29721507 |
|