Tbio TAZ Tafazzin

Protein Summary

Description

Some isoforms may be involved in cardiolipin (CL) metabolism. This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q16635
• A3KQT2
• D3DWX2
• Q5HY43
• Q5HY44
• Q5HY45
• Q5HY48
• Q86XQ6
• Q86XQ7
• Q86XQ8
• Q86XQ9
• Q86XR0

Gene Name

• TAZ

Ensembl ID

• ENST00000475699
• ENSP00000419854
• ENSG00000102125
• ENST00000601016
• ENSP00000469981
• ENST00000612460
• ENSP00000481037
• ENST00000613002
• ENSP00000478154

Symbol

• EFE2
• G4.5
• EFE
• BTHS
• EFE2
• G4.5
• Taz1
• CMD3A
• LVNCX

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.84
virus perturbation	0.83
cell type or tissue	0.78
cellular component	0.74
tissue sample	0.67

Protein Classes

PANTHER Classes

Protein / Transferase / Acyltransferase / Tafazzin

DTO Classes

Protein / Enzyme / Transferase / Acyltransferase / Tafazzin

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: 320.16   (req: < 5)

Gene RIFs: 35   (req: <= 3)

Antibodies: 386   (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: 320.16   (req: >= 5)

Gene RIFs: 35   (req: > 3)

Antibodies: 386   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 18

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

Find Targets by Sequence

Show Full Sequence

ProtVista Viewer

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 (181)

Explore Interacting Targets

1 – 10 of 181

• See Interactions on String-DB

HSPD1

Tbio

Novelty:  0.00018924

p_int:  0.99997226

p_ni:  0.00002774

Score:  0.912

Data Source:  BioPlex,STRINGDB

VWDE

Tdark

Novelty:  0.37298162

p_int:  0.999940362

p_ni:  0.000059638

Data Source:  BioPlex

FUT11

Tbio

Family:  Enzyme

Novelty:  0.16098097

p_int:  0.999732802

p_ni:  0.000266178

p_wrong:  0.00000102

Data Source:  BioPlex

GALNT18

Tbio

Family:  Enzyme

Novelty:  0.15496205

p_int:  0.999684075

p_ni:  0.000315923

p_wrong:  2e-9

Score:  0.532

Data Source:  BioPlex,STRINGDB

CNTNAP3

Tbio

Novelty:  0.22791524

p_int:  0.999510424

p_ni:  0.000489575

Data Source:  BioPlex

ADAM11

Tbio

Family:  Enzyme

Novelty:  0.122537

p_int:  0.999267648

p_ni:  0.000646394

p_wrong:  0.000085958

Score:  0.173

Data Source:  BioPlex,STRINGDB

ITGA8

Tbio

Novelty:  0.0220023

p_int:  0.997808871

p_ni:  0.002191111

p_wrong:  1.8e-8

Data Source:  BioPlex

H6PD

Tbio

Novelty:  0.00366637

p_int:  0.996764445

p_ni:  0.002816923

p_wrong:  0.000418632

Score:  0.319

Data Source:  BioPlex,STRINGDB

GALNS

Tbio

Family:  Enzyme

Novelty:  0.00510529

p_int:  0.994576183

p_ni:  0.005423816

Score:  0.196

Data Source:  BioPlex,STRINGDB

HYAL2

Tbio

Family:  Enzyme

Novelty:  0.00740331

p_int:  0.993953787

p_ni:  0.006046174

p_wrong:  4e-8

Data Source:  BioPlex

Nearest Tclin Targets (1)

Explore Nearest Tclin Targets

Upstream (1)

1 – 1 of 1

ACHE

Tclin

Family:  Enzyme

KEGG Distance:  5

Common Pathways:  1

1: Glycerophospholipid metabolism

Pathways (102)

Reactome (7)

KEGG (1)

WikiPathways (94)

Acyl chain remodeling of CL (R-HSA-1482798)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Acyl chain remodeling of CL	6 targets	R-HSA-1482798
Reactome	Glycerophospholipid biosynthesis	129 targets	R-HSA-1483206
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of lipids	740 targets	R-HSA-556833
Reactome	Mitochondrial protein import	65 targets	R-HSA-1268020

Name	Explore in Pharos	Explore in Source
Acyl chain remodeling of CL	6 targets	R-HSA-1482798
Glycerophospholipid biosynthesis	129 targets	R-HSA-1483206
Metabolism	2112 targets	R-HSA-1430728
Metabolism of lipids	740 targets	R-HSA-556833
Mitochondrial protein import	65 targets	R-HSA-1268020

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (23)

Functions (3)

Components (5)

Processes (15)

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10

1 – 3 of 3

GO Term	Evidence	Assigned by
1-acylglycerophosphocholine O-acyltransferase activity	Inferred from Direct Assay (IDA)	BHF-UCL
1-acylglycerol-3-phosphate O-acyltransferase activity	Traceable Author Statement (TAS)	Reactome
O-acyltransferase activity	Traceable Author Statement (TAS)	Reactome

Disease Associations ()

No disease associations found

GWAS Traits (9)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 9

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte measurement	EFO_0010700	3	3	3		91.4
reticulocyte count	EFO_0007986	2	2	2		89.6
leukocyte count	EFO_0004308	1	1	1		72.5
sex hormone-binding globulin measurement	EFO_0004696	3	2	3		57.7
neutrophil count	EFO_0004833	1	1	1		36.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 9

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte measurement	EFO_0010700	3		91.4
reticulocyte count	EFO_0007986	2		89.6
leukocyte count	EFO_0004308	1		72.5
sex hormone-binding globulin measurement	EFO_0004696	3		57.7
neutrophil count	EFO_0004833	1		36.5

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Cardiomyopathy
Complete proteome
Cytoplasm
Disease mutation
Membrane
Reference proteome
Transmembrane
Transmembrane helix

GWAS Trait Find Similar Targets

No Header	No Header
bilirubin measurement
eosinophil count
leukocyte count
low density lipoprotein cholesterol measurement
mean corpuscular volume
neutrophil count
reticulocyte count
reticulocyte measurement
sex hormone-binding globulin measurement

MGI Phenotype Find Similar Targets

No Header	No Header
cellular phenotype
endocrine/exocrine gland phenotype
reproductive system phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	tafazzin		574297
Mouse	tafazzin	MGI:109626	66826
Rat	tafazzin	RGD:1588532	363521
Dog	tafazzin	VGNC:47127	612975
Horse	tafazzin	VGNC:23892	100058306

Species	Name	OMA	EggNOG	Inparanoid
Macaque	tafazzin
Mouse	tafazzin
Rat	tafazzin
Dog	tafazzin
Horse	tafazzin

Publication Statistics

PubMed Score 320.16

PubMed score by year

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PubTator Score 454.45

PubTator score by year

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Related Publications

Text Mined References (66)

GeneRif Annotations (35)

Items per page:

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0 of 0

PMID	Year	Title