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Aliases for TAZ Gene

Aliases for TAZ Gene

  • Tafazzin 2 3 3 5
  • Protein G4.5 3 4
  • EFE2 3 4
  • G4.5 3 4
  • Cardiomyopathy, Dilated 3A (X-Linked) 2
  • Endocardial Fibroelastosis 2 2
  • Barth Syndrome 2
  • LVNCX 3
  • CMD3A 3
  • BTHS 3
  • Taz1 3
  • EFE 3

External Ids for TAZ Gene

Previous HGNC Symbols for TAZ Gene

  • CMD3A
  • EFE2
  • EFE

Previous GeneCards Identifiers for TAZ Gene

  • GC0XP147703
  • GC0XP150020
  • GC0XP151225
  • GC0XP152107
  • GC0XP153160
  • GC0XP153293
  • GC0XP153639
  • GC0XP142217

Summaries for TAZ Gene

Entrez Gene Summary for TAZ Gene

  • 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]

GeneCards Summary for TAZ Gene

TAZ (Tafazzin) is a Protein Coding gene. Diseases associated with TAZ include Barth Syndrome and Endocardial Fibroelastosis. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include transferase activity, transferring acyl groups and 1-acylglycerophosphocholine O-acyltransferase activity.

UniProtKB/Swiss-Prot for TAZ Gene

  • Some isoforms may be involved in cardiolipin (CL) metabolism.

Gene Wiki entry for TAZ Gene

Additional gene information for TAZ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAZ Gene

Genomics for TAZ Gene

Regulatory Elements for TAZ Gene

Enhancers for TAZ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH154723 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +319.9 319907 16 FOXA2 ZFP64 YY1 FOS RUNX3 ZC3H11A JUNB REST ZNF623 ZNF518A DKC1 SNORA70 HCFC1 F8A1 SNORA56 EMD GAB3 PLXNA3 F8A2 SLC10A3
GH0XH153900 1.6 FANTOM5 Ensembl ENCODE 10.3 -509.0 -509014 4.2 HDGF GLI4 TCF12 ZNF766 GLIS2 GATA2 ZNF143 FOS REST ZNF658 SNORA70 HCFC1 EMD DKC1 TMEM187 SNORA56 LOC105373383 SLC10A3 PLXNA3 PLXNB3
GH0XH153980 1.5 FANTOM5 Ensembl ENCODE 2.3 -427.7 -427701 7.3 HDGF PKNOX1 RB1 NFRKB TCF12 ZNF121 ZNF766 RUNX3 SMAD5 ZBTB11 TMEM187 ARHGAP4 MECP2 ABCD1 TAZ RENBP DNASE1L1 MIR3202-2 MIR718
GH0XH153965 1.8 FANTOM5 ENCODE dbSUPER 1.7 -441.0 -441003 10 HDGF PKNOX1 FOXA2 ARNT ZFP64 SIN3A FEZF1 DMAP1 ZNF2 YY1 TMEM187 LOC105373387 MAGEA1 ENSG00000234200 SNORA70 SLC10A3 HCFC1 EMD SNORA56 DKC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TAZ on UCSC Golden Path with GeneCards custom track

Promoters for TAZ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for TAZ Gene

Genomic Locations for TAZ Gene
10,209 bases
Plus strand

Genomic View for TAZ Gene

Genes around TAZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAZ Gene

Proteins for TAZ Gene

  • Protein details for TAZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A3KQT2
    • D3DWX2
    • Q5HY43
    • Q5HY44
    • Q5HY45
    • Q5HY48
    • Q86XQ6
    • Q86XQ7
    • Q86XQ8
    • Q86XQ9
    • Q86XR0

    Protein attributes for TAZ Gene

    292 amino acids
    Molecular mass:
    33459 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TAZ Gene

neXtProt entry for TAZ Gene

Post-translational modifications for TAZ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TAZ Gene

Domains & Families for TAZ Gene

Gene Families for TAZ Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TAZ Gene

Graphical View of Domain Structure for InterPro Entry



  • The hydrophilic domain may serve as an exposed loop interacting with other proteins.
  • Belongs to the taffazin family.
  • The hydrophilic domain may serve as an exposed loop interacting with other proteins.
  • Belongs to the taffazin family.
genes like me logo Genes that share domains with TAZ: view

Function for TAZ Gene

Molecular function for TAZ Gene

GENATLAS Biochemistry:
tafazzin,X-linked sequences XAP-2,expressed in brain and muscle,with as many as 10 alternative spliced forms
UniProtKB/Swiss-Prot Function:
Some isoforms may be involved in cardiolipin (CL) metabolism.

Phenotypes From GWAS Catalog for TAZ Gene

Gene Ontology (GO) - Molecular Function for TAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity TAS --
GO:0008374 O-acyltransferase activity TAS --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity TAS --
genes like me logo Genes that share ontologies with TAZ: view
genes like me logo Genes that share phenotypes with TAZ: view

Human Phenotype Ontology for TAZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TAZ Gene

MGI Knock Outs for TAZ:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TAZ Gene

Localization for TAZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAZ Gene

Isoform 1: Membrane; Single-pass membrane protein.
Isoform 2: Cytoplasm.
Isoform 3: Membrane; Single-pass membrane protein.
Isoform 4: Membrane; Single-pass membrane protein.
Isoform 5: Membrane; Single-pass membrane protein.
Isoform 6: Cytoplasm.
Isoform 7: Membrane; Single-pass membrane protein.
Isoform 8: Cytoplasm.
Isoform 9: Cytoplasm.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAZ gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 15304507
GO:0005743 mitochondrial inner membrane TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with TAZ: view

Pathways & Interactions for TAZ Gene

genes like me logo Genes that share pathways with TAZ: view

Pathways by source for TAZ Gene

Interacting Proteins for TAZ Gene

Gene Ontology (GO) - Biological Process for TAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process IEA --
GO:0006936 muscle contraction IMP 17043667
GO:0007507 heart development IMP 17043667
GO:0007519 skeletal muscle tissue development IMP 17043667
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with TAZ: view

No data available for SIGNOR curated interactions for TAZ Gene

Drugs & Compounds for TAZ Gene

(11) Drugs for TAZ Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anticholesteremic Agents Pharma 2073
Antimetabolites Pharma 12295
Atorvastatin Calcium Pharma HMG-CoA reductase inhibitor 777
Calcium, Dietary Pharma 5889
Hydroxymethylglutaryl-CoA Reductase Inhibitors Pharma 2048

(5) Additional Compounds for TAZ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAZ: view

Transcripts for TAZ Gene

Unigene Clusters for TAZ Gene

Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAZ Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d
SP1: - - - - -
SP2: - - - - - - -
SP3: - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - -
SP10: - -

Relevant External Links for TAZ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TAZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAZ Gene

This gene is overexpressed in Esophagus (60.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TAZ Gene

Protein tissue co-expression partners for TAZ Gene

NURSA nuclear receptor signaling pathways regulating expression of TAZ Gene:


SOURCE GeneReport for Unigene cluster for TAZ Gene:


mRNA Expression by UniProt/SwissProt for TAZ Gene:

Tissue specificity: High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.

Evidence on tissue expression from TISSUES for TAZ Gene

  • Heart(4.6)
  • Muscle(4.5)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAZ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • tooth
  • heart
  • heart valve
  • lung
  • lower limb
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with TAZ: view

No data available for mRNA differential expression in normal tissues for TAZ Gene

Orthologs for TAZ Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAZ Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TAZ 34
  • 95 (a)
(Bos Taurus)
Mammalia TAZ 34 33
  • 92.15 (n)
(Mus musculus)
Mammalia Taz 16 34 33
  • 91.09 (n)
(Ornithorhynchus anatinus)
Mammalia TAZ 34
  • 91 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
-- 34
  • 78 (a)
(Rattus norvegicus)
Mammalia Taz 33
  • 89.57 (n)
(Canis familiaris)
Mammalia TAZ 34 33
  • 88.5 (n)
(Gallus gallus)
Aves TAZ 34
  • 82 (a)
(Anolis carolinensis)
Reptilia TAZ 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia taz 33
  • 69.08 (n)
Str.6397 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18488 33
(Danio rerio)
Actinopterygii taz 34 33
  • 66.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007599 33
  • 57.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta Taz 33 34
  • 56.21 (n)
(Caenorhabditis elegans)
Secernentea acl-3 33 34
  • 50.27 (n)
ZK809.2 35
  • 43 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10978g 33
  • 44.54 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR254C 33
  • 41.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAZ1 33
  • 38.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G05510 33
  • 43.66 (n)
(Oryza sativa)
Liliopsida Os01g0931300 33
  • 45.4 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07576 33
  • 46.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
Species where no ortholog for TAZ was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAZ Gene

Gene Tree for TAZ (if available)
Gene Tree for TAZ (if available)

Paralogs for TAZ Gene

No data available for Paralogs for TAZ Gene

Variants for TAZ Gene

Sequence variations from dbSNP and Humsavar for TAZ Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs104894937 Pathogenic, Barth syndrome (BTHS) [MIM:302060] 154,413,549(+) GCAAG(C/T)GTGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs104894942 Pathogenic, Barth syndrome (BTHS) [MIM:302060] 154,413,248(+) TGATG(A/C/T)GTTGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs132630277 Pathogenic, Barth syndrome (BTHS) [MIM:302060] 154,420,037(+) GAATC(A/G)GGCGC nc-transcript-variant, reference, missense
rs387907218 Pathogenic, Barth syndrome (BTHS) [MIM:302060] 154,420,676(+) TGATC(A/C/G)GGAAG nc-transcript-variant, reference, missense
rs104894941 Pathogenic 154,412,129(+) CTGTA(C/G)GAGCT nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TAZ Gene

Variant ID Type Subtype PubMed ID
nsv7468 OTHER inversion 18451855
nsv519042 CNV gain 19592680
esv33784 CNV gain+loss 17666407
esv33199 CNV gain+loss 17666407

Variation tolerance for TAZ Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAZ Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAZ Gene

Disorders for TAZ Gene

MalaCards: The human disease database

(21) MalaCards diseases for TAZ Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
barth syndrome
  • 3-methylglutaconicaciduria type 2
endocardial fibroelastosis
  • elastomyofibrosis
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
familial isolated noncompaction of left ventricular myocardium
  • invm
taz-related dilated cardiomyopathy
  • cmd3a
- elite association - COSMIC cancer census association via MalaCards
Search TAZ in MalaCards View complete list of genes associated with diseases


  • Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. {ECO:0000269 PubMed:11238270, ECO:0000269 PubMed:12032589, ECO:0000269 PubMed:9382096, ECO:0000269 PubMed:9382097}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TAZ

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TAZ: view

No data available for Genatlas for TAZ Gene

Publications for TAZ Gene

  1. Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome. (PMID: 19164547) Malhotra A … Ren M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 60
  2. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. (PMID: 12930833) Vaz FM … Wanders RJ (The Journal of biological chemistry 2003) 3 4 22 60
  3. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PMID: 11238270) Ichida F … Towbin JA (Circulation 2001) 3 4 22 60
  4. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. (PMID: 9382096) D'Adamo P … Toniolo D (American journal of human genetics 1997) 3 4 22 60
  5. A novel X-linked gene, G4.5. is responsible for Barth syndrome. (PMID: 8630491) Bione S … Toniolo D (Nature genetics 1996) 3 4 22 60

Products for TAZ Gene

Sources for TAZ Gene

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