EFHD1 - EF-hand domain family member D1 Gene

Homo sapiens

Also known as SWS2; MST133; PP3051; MSTP133

Gene ID: 80303 | Gene type: protein coding

About EFHD1

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,606,057-232,682,776 (from NCBI)

This gene has 6 transcripts (splice variants), 143 orthologues and 1 paralogue. Biased expression in kidney (RPKM 68.5), placenta (RPKM 36.8) and 12 other tissues.

Summary

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]

EFHD1 Products(3)

mRNA	Protein	Name
NM_001243252.2	NP_001230181.1	EF-hand domain-containing protein D1 isoform 2
NM_001308395.2	NP_001295324.1	EF-hand domain-containing protein D1 isoform 3
NM_025202.4	NP_079478.1	EF-hand domain-containing protein D1 isoform 1

EFHD1 Protein Structure

EF-hand_7

0
100
200
239 a.a.

Protein Preferred Names

Protein Names

EF-hand domain-containing protein D1

EF-hand domain-containing protein 1

Related Diseases

Diseases

Alias

Colorblindness, Partial, Protan Series

Protanopia	Red Color Blindness
Protan Defect	CBP
Red Colorblindness	Colorblindness, Protan
Color Blindness, Red

Acromelic Frontonasal Dysostosis

AFND	Acromelic Frontonasal Dysplasia
Frontonasal Dysplasia Acromelic	Toriello Syndrome
Dysostosis, Acromelic Frontonasal	Sweet Syndrome

Red-Green Color Blindness

Deutan Defect	Deuteranopia
Reduced Red-Green Discrimination	Color Blindness, Red-Green
Colorblindness, Partial, Deutan Series

Exudative Vitreoretinopathy 2, X-Linked

EVR2	Evrx
Fevrx	X-Linked Exudative Vitreoretinopathy 2
Exudative Vitreoretinopathy, Familial, 2	Fevr, X-Linked
Vitreoretinopathy, Exudative 2	Exudative Vitreoretinopathy Familial 2
Fevr X-Linked	X-Linked Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Exudative, X-Linked, Type 2	Exudative Vitreoretinopathy, Familial, X-Linked Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04189	EFHD1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EFHD1	VGNC	VGNC:80193
Mus musculus	EFHD1	MGD	MGI:1921607
Canis familiaris	EFHD1	VGNC	VGNC:59077
Rattus norvegicus	EFHD1	RGD	RGD:1559565
Macaca mulatta	EFHD1	VGNC	VGNC:104524
Bos taurus	EFHD1	VGNC	VGNC:28352

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