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: 3208
MIM: 142622
HGNC: 5144
Ensembl: ENSG00000121905
Variants:
dbSNP: 3208
ClinVar: 3208
TCGA: ENSG00000121905
COSMIC: HPCA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000121905 | ENST00000373467 | P84074 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31486848 | 2019 | MicroRNA-24-3p regulates neuronal differentiation by controlling hippocalcin expression. | 10 |
| 31486848 | 2019 | MicroRNA-24-3p regulates neuronal differentiation by controlling hippocalcin expression. | 10 |
| 30145809 | 2018 | HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. | 10 |
| 30145809 | 2018 | HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. | 10 |
| 27771228 | 2017 | DYT2 screening in early-onset isolated dystonia. | 4 |
| 28398555 | 2017 | Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. | 8 |
| 27771228 | 2017 | DYT2 screening in early-onset isolated dystonia. | 4 |
| 28398555 | 2017 | Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. | 8 |
| 27145302 | 2016 | HPCA-related dystonia: Too rare to be found? | 2 |
| 27145302 | 2016 | HPCA-related dystonia: Too rare to be found? | 2 |
| 25799108 | 2015 | Mutations in HPCA cause autosomal-recessive primary isolated dystonia. | 21 |
| 25799108 | 2015 | Mutations in HPCA cause autosomal-recessive primary isolated dystonia. | 21 |
| 23782819 | 2013 | [Dystonia genes and elucidation of their roles in dystonia pathogenesis]. | 1 |
| 23782819 | 2013 | [Dystonia genes and elucidation of their roles in dystonia pathogenesis]. | 1 |
| 22544757 | 2012 | A novel acetylation cycle of transcription co-activator Yes-associated protein that is downstream of Hippo pathway is triggered in response to SN2 alkylating agents. | 44 |
Citation
Dessen P
HPCA (hippocalcin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64410/hpca-(hippocalcin)
