Homo sapiens Gene: EFHC2
Summary
InnateDB Gene IDBG-58561.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EFHC2
Gene Name EF-hand domain (C-terminal) containing 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000183690
Encoded Proteins
EF-hand domain (C-terminal) containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome X:44147882-44343672
Strand Reverse strand
Band p11.3
Transcripts
ENST00000343571
ENST00000420999 ENSP00000404232
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
Cellular Component
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt Q5JST6
TrEMBL
UniProt Splice Variant
Entrez Gene 80258
UniGene Hs.521953
RefSeq NM_025184
HUGO HGNC:26233
OMIM 300817
CCDS CCDS55405
HPRD 06540
IMGT
EMBL AC018719 AK026254 AL133344 AL359744 BC031039 CR749363
GenPept AAH31039 BAB15413 CAH18216 CAI40211 CAI40213 CAI42232 CAI42234
RNA Seq Atlas 80258