EFHC2 Chromosome X
EF-hand domain containing 2
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What This Gene Does
This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000183690
Associated Conditions (2)
X-linked intellectual disability
Ornithine carbamoyltransferase deficiency
Key Variants
RS201560745
Conflicting classifications of pathogenicity
X-linked intellectual disability, X-linked intellectual disability
Health Risk
RS368484783
Conflicting classifications of pathogenicity
Health Risk
RS61636783
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201560745 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability, X-linked intellectual disability |
| RS368484783 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61636783 | Health Risk | Conflicting classifications of pathogenicity | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |