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Gene : EFHD1 Homo sapiens

Name  ? EF-hand domain family member D1 Cytological Location  2q37.1
Brief Description  EF-hand domain family member D1
description  This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
  • synonyms:
  • OTTHUMG00000133263,
  • MST133,
  • FLJ13612,
  • SWS2,
  • EFHD1,
  • HGNC:29556,
  • PP3051,
  • NM_025202,
  • swiprosin-2,
  • MSTP133,
  • uc002vtc.4,
  • EF hand domain containing 1
  • identifiers:
  • 80303,
  • ENSG00000115468,
  • EFHD1

Genome feature

Region: gene ? Length: 76725  
Location: 2:232606057-232682781 Cyto location: 2q37.1

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

165 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results