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Gene: EFHC2 (EF-hand domain containing 2) Homo sapiens
Symbol: EFHC2
Name: EF-hand domain containing 2
Description: 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]
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: dJ1158H2.1; DKFZp686G08235; EF-hand domain (C-terminal) containing 2; EF-hand domain-containing family member C2; FLJ22601; FLJ22843; mental retardation, X-linked 74; MRX74
Mus musculus (house mouse) : Efhc2 (EF-hand domain (C-terminal) containing 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Efhc2 (EF-hand domain containing 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Efhc2 (EF-hand domain containing 2)
Pan paniscus (bonobo/pygmy chimpanzee) : EFHC2 (EF-hand domain containing 2)
Canis lupus familiaris (dog) : EFHC2 (EF-hand domain containing 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Efhc2 (EF-hand domain containing 2)
Sus scrofa (pig) : EFHC2 (EF-hand domain containing 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X44,146,254 - 44,343,672 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X44,005,549 - 44,202,923 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X43,892,072 - 44,087,867 (-)NCBINCBI36hg18NCBI36
Build 34X43,764,164 - 43,959,172NCBI
CeleraX48,146,906 - 48,342,688 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX41,736,053 - 41,929,823 (-)NCBIHuRef
CHM1_1X44,040,187 - 44,235,928 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on EFHC2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1348000
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.