Identity
HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
MST133,MSTP133,PP3051,SWS2
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: 80303
MIM: 611617
HGNC: 29556
Ensembl: ENSG00000115468
Variants:
dbSNP: 80303
ClinVar: 80303
TCGA: ENSG00000115468
COSMIC: EFHD1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36747492 | 2023 | EFHD1, a novel mitochondrial regulator of tumor metastasis in clear cell renal cell carcinoma. | 4 |
| 36747492 | 2023 | EFHD1, a novel mitochondrial regulator of tumor metastasis in clear cell renal cell carcinoma. | 4 |
| 26975899 | 2016 | Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation. | 16 |
| 26975899 | 2016 | Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation. | 16 |
| 24861485 | 2014 | Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients. | 24 |
| 24861485 | 2014 | Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients. | 24 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 12270117 | 2002 | Novel genes cloned from a neuronal cell line newly established from a cerebellum of an adult p53(-/-) mouse. | 6 |
| 12270117 | 2002 | Novel genes cloned from a neuronal cell line newly established from a cerebellum of an adult p53(-/-) mouse. | 6 |
Citation
Dessen P
EFHD1 (EF-hand domain family member D1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62750/efhd1-(ef-hand-domain-family-member-d1)
