Protein Summary
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]
- ENST00000475699
- ENSP00000419854
- ENSG00000102125
- ENST00000601016
- ENSP00000469981
- ENST00000612460
- ENSP00000481037
- ENST00000613002
- ENSP00000478154
- EFE2
- G4.5
- EFE
- BTHS
- EFE2
- G4.5
- Taz1
- CMD3A
- LVNCX
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
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools

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

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

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (181)
HSPD1
Novelty: 0.00018924
p_int: 0.99997226
p_ni: 0.00002774
Score: 0.912
Data Source: BioPlex,STRINGDB
FUT11
Family: Enzyme
Novelty: 0.16098097
p_int: 0.999732802
p_ni: 0.000266178
p_wrong: 0.00000102
Data Source: BioPlex
GALNT18
Family: Enzyme
Novelty: 0.15496205
p_int: 0.999684075
p_ni: 0.000315923
p_wrong: 2e-9
Score: 0.532
Data Source: BioPlex,STRINGDB
ADAM11
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
Novelty: 0.0220023
p_int: 0.997808871
p_ni: 0.002191111
p_wrong: 1.8e-8
Data Source: BioPlex
H6PD
Novelty: 0.00366637
p_int: 0.996764445
p_ni: 0.002816923
p_wrong: 0.000418632
Score: 0.319
Data Source: BioPlex,STRINGDB
GALNS
Family: Enzyme
Novelty: 0.00510529
p_int: 0.994576183
p_ni: 0.005423816
Score: 0.196
Data Source: BioPlex,STRINGDB
HYAL2
Family: Enzyme
Novelty: 0.00740331
p_int: 0.993953787
p_ni: 0.006046174
p_wrong: 4e-8
Data Source: BioPlex
Nearest Tclin Targets (1)
Upstream (1)
1 – 1 of 1
Pathways (102)
Reactome (7)
KEGG (1)
WikiPathways (94)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
---|---|---|---|---|---|
Reactome | Acyl chain remodeling of CL | ||||
Reactome | Glycerophospholipid biosynthesis | ||||
Reactome | Metabolism | ||||
Reactome | Metabolism of lipids | ||||
Reactome | Mitochondrial protein import | ||||
Name | Explore in Pharos | Explore in Source | ||
---|---|---|---|---|
Acyl chain remodeling of CL | ||||
Glycerophospholipid biosynthesis | ||||
Metabolism | ||||
Metabolism of lipids | ||||
Mitochondrial protein import | ||||
Viral Interactions (0)
Gene Ontology Terms (23)
Functions (3)
Components (5)
Processes (15)
GO Term | Evidence | Assigned by | ||
---|---|---|---|---|
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Traceable Author Statement (TAS) | Reactome | |||
Traceable Author Statement (TAS) | Reactome | |||
Disease Associations ()
GWAS Traits (9)
Items per page:
1 – 5 of 9
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
---|---|---|---|---|---|---|---|---|---|
reticulocyte measurement | 3 | 3 | 3 | 91.4 | |||||
reticulocyte count | 2 | 2 | 2 | 89.6 | |||||
leukocyte count | 1 | 1 | 1 | 72.5 | |||||
sex hormone-binding globulin measurement | 3 | 2 | 3 | 57.7 | |||||
neutrophil count | 1 | 1 | 1 | 36.5 | |||||
Items per page:
1 – 5 of 9
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
---|---|---|---|---|---|---|---|
reticulocyte measurement | 3 | 91.4 | |||||
reticulocyte count | 2 | 89.6 | |||||
leukocyte count | 1 | 72.5 | |||||
sex hormone-binding globulin measurement | 3 | 57.7 | |||||
neutrophil count | 1 | 36.5 | |||||
Find similar targets by:
IDG Resources
Orthologs (11)
1 – 5 of 11
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
---|---|---|---|---|---|---|---|---|
Macaque | tafazzin | 574297 | ||||||
Mouse | MGI:109626 | 66826 | ||||||
Rat | RGD:1588532 | 363521 | ||||||
Dog | tafazzin | VGNC:47127 | 612975 | |||||
Horse | tafazzin | VGNC:23892 | 100058306 | |||||
Publication Statistics
PubMed Score 320.16
PubMed score by year
PubTator Score 454.45
PubTator score by year
Related Publications
Text Mined References (66)
GeneRif Annotations (35)
Items per page:
0 of 0
PMID | Year | Title |
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