Tbio EFHC2 EF-hand domain-containing family member C2

Protein Summary

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]

Uniprot Accession IDs

• Q5JST6
• Q5JST8
• Q68DK4
• Q8NEI0
• Q9H653

Gene Name

• EFHC2

Ensembl ID

• ENST00000420999
• ENSP00000404232
• ENSG00000183690

Symbol

• MRX74
• dJ1158H2.1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cell type or tissue	0.69
histone modification site profile	0.67
microRNA	0.6
gene perturbation	0.59
protein domain	0.58

Protein Classes

No PANTHER Classes or DTO Classes found

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: 12.56   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 95   (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: 12.56   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 95   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (49)

Explore Interacting Targets

1 – 10 of 49

• See Interactions on String-DB

GPR82

Tdark

Family:  GPCR

Novelty:  0.39696704

Score:  0.834

Data Source:  STRINGDB

GPR34

Tchem

Family:  GPCR

Novelty:  0.03810628

Score:  0.805

Data Source:  STRINGDB

ARHGEF5

Tbio

Novelty:  0.12603141

Score:  0.727

Data Source:  STRINGDB

BCLAF3

Tdark

Novelty:  1.67603845

Score:  0.727

Data Source:  STRINGDB

GRAMD2A

Tbio

Novelty:  0.4291251

Score:  0.689

Data Source:  STRINGDB

CRYZL1

Tbio

Family:  Enzyme

Novelty:  0.04435286

Score:  0.647

Data Source:  STRINGDB

GTF2IRD1

Tbio

Family:  TF

Novelty:  0.01858027

Score:  0.64

Data Source:  STRINGDB

FUNDC1

Tbio

Novelty:  0.02333176

Score:  0.618

Data Source:  STRINGDB

PRODH2

Tbio

Family:  Enzyme

Novelty:  0.09377289

Score:  0.608

Data Source:  STRINGDB

RFC2

Tbio

Novelty:  0.02088405

Score:  0.598

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (1)

WikiPathways (1)

Find Similar Targets

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5

1 – 1 of 1

Data Source	Name	Explore in Pharos	Explore in Source
WikiPathways	Ciliary landscape	642 targets	WP4352_r102218

Name	Explore in Pharos	Explore in Source
Ciliary landscape	642 targets	WP4352_r102218

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (2)

Functions (1)

Processes (1)

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10

1 – 1 of 1

GO Term	Evidence	Assigned by
calcium ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations ()

No disease associations found

GWAS Traits (1)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 1 of 1

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
intraocular pressure measurement	EFO_0004695	1	1	1		10

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 1 of 1

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
intraocular pressure measurement	EFO_0004695	1		10

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UniProt Keyword Find Similar Targets

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3D-structure
Alternative splicing
Complete proteome
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Reference proteome
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GWAS Trait Find Similar Targets

No Header	No Header
intraocular pressure measurement

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Mouse	EF-hand domain (C-terminal) containing 2	MGI:1921655	74405
Rat	EF-hand domain containing 2	RGD:1563388	302507
Dog	EF-hand domain containing 2	VGNC:40224	480888
Horse	EF-hand domain containing 2	VGNC:17446	100059410
Pig	EF-hand domain containing 2		100622362

Species	Name	OMA	EggNOG	Inparanoid
Mouse	EF-hand domain (C-terminal) containing 2
Rat	EF-hand domain containing 2
Dog	EF-hand domain containing 2
Horse	EF-hand domain containing 2
Pig	EF-hand domain containing 2

Publication Statistics

PubMed Score 12.56

PubMed score by year

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PubTator Score 9.05

PubTator score by year

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Related Publications

Text Mined References (15)

GeneRif Annotations (9)

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10

0 of 0

PMID	Year	Title