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Gene: EFHC2 (EF-hand domain containing 2) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on EFHC2
Alliance Gene
NCBI 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



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