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: 57685
HGNC: 29314
Ensembl: ENSG00000158966
Variants:
dbSNP: 57685
ClinVar: 57685
TCGA: ENSG00000158966
COSMIC: CACHD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000158966 | ENST00000290039 | A0A0A0MQY7 |
| ENSG00000158966 | ENST00000650260 | A0A3B3ISH2 |
| ENSG00000158966 | ENST00000651257 | Q5VU97 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38158856 | 2024 | Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. | 1 |
| 38158856 | 2024 | Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. | 1 |
| 30983497 | 2019 | CACHD1: A new activity-modifying protein for voltage-gated calcium channels. | 8 |
| 30983497 | 2019 | CACHD1: A new activity-modifying protein for voltage-gated calcium channels. | 8 |
| 30181139 | 2018 | CACHD1 is an α2δ-Like Protein That Modulates Ca(V)3 Voltage-Gated Calcium Channel Activity. | 22 |
| 30181139 | 2018 | CACHD1 is an α2δ-Like Protein That Modulates Ca(V)3 Voltage-Gated Calcium Channel Activity. | 22 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
CACHD1 (cache domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61354/cachd1-(cache-domain-containing-1)
