EFHC2

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]

Description

EF-hand domain containing 2

Tissue specificity

Tissue enhanced (choroid plexus, fallopian tube)

Subcell location

Nucleoplasm, Nucleoli fibrillar center, Plasma membrane

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

X (44147872 - 44343672)

Ensembl ID

ENSG00000183690  (ver. 103.38)

Orthologs

Mouse Efhc2: ENSMUSG00000025038

UniProt

Q5JST6

neXtProt

NX_Q5JST6

Human splice variants
Mouse splice variants

Protein structure