Identity
HGNC
LOCATION
2p24.1
LOCUSID
ALIAS
ETM2,HS1-BP3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64342
MIM: 609359
HGNC: 24979
Ensembl: ENSG00000118960
Variants:
dbSNP: 64342
ClinVar: 64342
TCGA: ENSG00000118960
COSMIC: HS1BP3
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28004827 | 2016 | HS1BP3 negatively regulates autophagy by modulation of phosphatidic acid levels. | 32 |
| 28004827 | 2016 | HS1BP3 negatively regulates autophagy by modulation of phosphatidic acid levels. | 32 |
| 21699750 | 2011 | Human HS1BP3 induces cell apoptosis and activates AP-1. | 4 |
| 21699750 | 2011 | Human HS1BP3 induces cell apoptosis and activates AP-1. | 4 |
| 19524641 | 2009 | DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. | 8 |
| 19524641 | 2009 | DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. | 8 |
| 19524641 | 2009 | DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. | 8 |
| 19524641 | 2009 | DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. | 8 |
| 15699368 | 2005 | A variant in the HS1-BP3 gene is associated with familial essential tremor. | 17 |
| 16116142 | 2005 | Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. | 12 |
| 15699368 | 2005 | A variant in the HS1-BP3 gene is associated with familial essential tremor. | 17 |
| 16116142 | 2005 | Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. | 12 |
Citation
Dessen P
HS1BP3 (HCLS1 binding protein 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64425/hs1bp3-(hcls1-binding-protein-3)
