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: 80258
MIM: 300817
HGNC: 26233
Ensembl: ENSG00000183690
Variants:
dbSNP: 80258
ClinVar: 80258
TCGA: ENSG00000183690
COSMIC: EFHC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000183690 | ENST00000420999 | Q5JST6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29321361 | 2017 | A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits. | 4 |
| 29321361 | 2017 | A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits. | 4 |
| 26107779 | 2015 | Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males. | 7 |
| 26958022 | 2015 | No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. | 3 |
| 26107779 | 2015 | Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males. | 7 |
| 26958022 | 2015 | No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. | 3 |
| 19429002 | 2009 | Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. | 6 |
| 19429002 | 2009 | Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. | 6 |
| 19429002 | 2009 | Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. | 6 |
| 19429002 | 2009 | Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. | 6 |
| 17948898 | 2008 | EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. | 6 |
| 17948898 | 2008 | EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. | 6 |
| 17948898 | 2008 | EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. | 6 |
| 17948898 | 2008 | EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. | 6 |
| 17164267 | 2007 | Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. | 10 |
Citation
Dessen P
EFHC2 (EF-hand domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/57039/efhc2-(ef-hand-domain-containing-2)
