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Tbio
EFHD1
EF-hand domain-containing protein D1

Protein Summary
Description
Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000264059
  • ENSP00000264059
  • ENSG00000115468
  • ENST00000409613
  • ENSP00000386556

Symbol
  • SWS2
  • SWS2
  • MST133
  • PP3051
  • MSTP133
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.99
PubMedID
0.83
histone modification site profile
0.82
transcription factor perturbation
0.68
transcription factor binding site profile
0.67


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 126.01   (req: < 5)
Gene RIFs: 4   (req: <= 3)
Antibodies: 238   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 126.01   (req: >= 5)
Gene RIFs: 4   (req: > 3)
Antibodies: 238   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (30)
FSD1
Tbio
Novelty:  0.03452477
p_int:  0.999856433
p_ni:  0.000143541
p_wrong:  2.7e-8
Score:  0.213
Data Source:  BioPlex,STRINGDB
MAS1
Tchem
Family:  GPCR
Novelty:  0.0089712
p_int:  0.999423918
p_ni:  0.000280672
p_wrong:  0.000295411
Score:  0.151
Data Source:  BioPlex,STRINGDB
CPLX4
Tdark
Novelty:  0.1755035
p_int:  0.99942044
p_ni:  0.000469944
p_wrong:  0.000109616
Score:  0.204
Data Source:  BioPlex,STRINGDB
FOXP2
Tbio
Family:  TF
Novelty:  0.00190504
p_int:  0.998696978
p_ni:  0.000608608
p_wrong:  0.000694413
Score:  0.19
Data Source:  BioPlex,STRINGDB
DUSP10
Tbio
Family:  Enzyme
Novelty:  0.01911065
p_int:  0.905294448
p_ni:  0.003749141
p_wrong:  0.090956411
Score:  0.332
Data Source:  BioPlex,STRINGDB
PPIAL4G
Tdark
Family:  Enzyme
Novelty:  0.93726521
p_int:  0.78258965
p_ni:  0.008970359
p_wrong:  0.208439991
Score:  0.181
Data Source:  BioPlex,STRINGDB
S100A8
Tbio
Novelty:  0.00107914
p_int:  0.778609402
p_ni:  0.001933117
p_wrong:  0.219457481
Score:  0.197
Data Source:  BioPlex,STRINGDB
RHAG
Tbio
Novelty:  0.00094983
Score:  0.766
Data Source:  STRINGDB
ERMN
Tbio
Novelty:  0.05302803
Score:  0.698
Data Source:  STRINGDB
AMN1
Tbio
Novelty:  0.02370739
Score:  0.544
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (3)
Find Similar Targets
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
InterPro
Disease Associations (null)
No disease associations found
GWAS Traits (21)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
refractive error measurement
3
4
5
12.7
96.9
serum gamma-glutamyl transferase measurement
4
4
3
2.9
96.9
aspartate aminotransferase measurement
3
3
2
10
90.4
Myopia
3
2
0
1.3
86.9
10
4
5
1.1
85.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
refractive error measurement
5
12.7
96.9
serum gamma-glutamyl transferase measurement
3
2.9
96.9
aspartate aminotransferase measurement
2
10
90.4
Myopia
0
1.3
86.9
5
1.1
85.3
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (6)
1 – 5 of 6
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:1921607
98363
Rat
RGD:1559565
501181
Cow
EF-hand domain family member D1
VGNC:28352
522462
Chicken
EF-hand domain family member D1
CGNC:52247
424741
Anole lizard
EF-hand domain family member D1
100560636
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Cow
EF-hand domain family member D1
Chicken
EF-hand domain family member D1
Anole lizard
EF-hand domain family member D1
Publication Statistics
PubMed Score 126.01
PubMed score by year
PubTator Score 23.98
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title