Identity
HGNC
LOCATION
3p14.3
LOCUSID
ALIAS
CAST,CAST1,ELKSL,SPBC110,Spc110
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: 26059
MIM: 617250
HGNC: 31922
Ensembl: ENSG00000187672
Variants:
dbSNP: 26059
ClinVar: 26059
TCGA: ENSG00000187672
COSMIC: ERC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187672 | ENST00000288221 | O15083 |
| ENSG00000187672 | ENST00000460849 | O15083 |
| ENSG00000187672 | ENST00000492584 | H7C4G9 |
| ENSG00000187672 | ENST00000612797 | O15083 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34790172 | 2021 | IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome. | 2 |
| 34790172 | 2021 | IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome. | 2 |
| 31671734 | 2019 | Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2. | 5 |
| 31671734 | 2019 | Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2. | 5 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 18519826 | 2008 | Molecular genetics of successful smoking cessation: convergent genome-wide association study results. | 145 |
| 18519826 | 2008 | Molecular genetics of successful smoking cessation: convergent genome-wide association study results. | 145 |
| 12923177 | 2003 | Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins. | 81 |
| 12923177 | 2003 | Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins. | 81 |
Citation
Dessen P
ERC2 (ELKS/RAB6-interacting/CAST family member 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/928/erc2-(elks-rab6-interacting-cast-family-member-2)
