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Aliases for TAZ Gene

Aliases for TAZ Gene

  • Tafazzin 2 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 familial isolated dilated cardiomyopathy. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. 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

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

Genomics for TAZ Gene

Regulatory Elements for TAZ Gene

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

ENSRs around TAZ on UCSC Golden Path with GeneCards custom track

Genomic Location for TAZ Gene

Chromosome:
X
Start:
154,411,518 bp from pter
End:
154,421,726 bp from pter
Size:
10,209 bases
Orientation:
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:
    Q16635-TAZ_HUMAN
    Recommended name:
    Tafazzin
    Protein Accession:
    Q16635
    Secondary Accessions:
    • A3KQT2
    • D3DWX2
    • Q5HY43
    • Q5HY44
    • Q5HY45
    • Q5HY48
    • Q86XQ6
    • Q86XQ7
    • Q86XQ8
    • Q86XQ9
    • Q86XR0

    Protein attributes for TAZ Gene

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

    Alternative splice isoforms for TAZ Gene

neXtProt entry for TAZ Gene

Proteomics data for TAZ Gene at MOPED

Post-translational modifications for TAZ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TAZ Gene

Domains & Families for TAZ Gene

Suggested Antigen Peptide Sequences for TAZ Gene

Graphical View of Domain Structure for InterPro Entry

Q16635

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for TAZ Gene

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.

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 --
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for TAZ Gene COMPARTMENTS Subcellular localization image for TAZ gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 3
extracellular 2
plasma membrane 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 15304507
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:0006936 muscle contraction IMP 17043667
GO:0007519 skeletal muscle tissue development IMP 17043667
GO:0008152 metabolic process IEA --
GO:0032049 cardiolipin biosynthetic process IMP 11118295
GO:0042407 cristae formation IMP 17043667
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anticholesteremic Agents Pharma 1732
Antimetabolites Pharma 9454
Atorvastatin Calcium Pharma HMG-CoA reductase inhibitor 714
Calcium, Dietary Pharma 4678
Hydroxymethylglutaryl-CoA Reductase Inhibitors Pharma 1804

(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

Tafazzin:
Representative Sequences:

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: - -
SP4:
SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - -
SP9:
SP10: - -

Relevant External Links for TAZ Gene

GeneLoc Exon Structure for
TAZ
ECgene alternative splicing isoforms for
TAZ

Expression for TAZ Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for TAZ Gene Hs.409911

mRNA Expression by UniProt/SwissProt for TAZ Gene

Q16635-TAZ_HUMAN
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.
genes like me logo Genes that share expression patterns with TAZ: view

Protein tissue co-expression partners for TAZ Gene

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia TAZ 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TAZ 36
  • 97 (a)
OneToOne
TAZ 35
  • 92.15 (n)
  • 97.3 (a)
dog
(Canis familiaris)
Mammalia TAZ 35
  • 88.5 (n)
  • 91.55 (a)
TAZ 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Taz 16
Taz 36
  • 97 (a)
OneToOne
Taz 35
  • 91.09 (n)
  • 97.33 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TAZ 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Taz 35
  • 89.57 (n)
  • 96.95 (a)
chicken
(Gallus gallus)
Aves TAZ 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TAZ 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18488 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6397 35
taz 35
  • 69.08 (n)
  • 75.57 (a)
zebrafish
(Danio rerio)
Actinopterygii taz 35
  • 66.92 (n)
  • 67.95 (a)
taz 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007599 35
  • 57.68 (n)
  • 51.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Taz 35
  • 56.21 (n)
  • 47.06 (a)
Taz 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea acl-3 36
  • 40 (a)
OneToOne
ZK809.2 37
  • 43 (a)
acl-3 35
  • 50.27 (n)
  • 47.56 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR254C 35
  • 41.43 (n)
  • 33.74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAZ1 35
  • 38.79 (n)
  • 31.9 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10978g 35
  • 44.54 (n)
  • 37.12 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G05510 35
  • 43.66 (n)
  • 33.47 (a)
rice
(Oryza sativa)
Liliopsida Os01g0931300 35
  • 45.4 (n)
  • 35.78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07576 35
  • 46.75 (n)
  • 36.36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for TAZ:
  • 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

ENSEMBL:
Gene Tree for TAZ (if available)
TreeFam:
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
VAR_014110 Barth syndrome (BTHS)
VAR_014111 Barth syndrome (BTHS)
VAR_014112 Barth syndrome (BTHS)
VAR_068434 Barth syndrome (BTHS)
rs4898493 -- 154,416,963(+) ACCCC(A/G)TCTCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7468 OTHER Inversion 18451855

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

HapMap Linkage Disequilibrium report
TAZ
Human Gene Mutation Database (HGMD)
TAZ

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

Disorders for TAZ Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

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

No data available for Genatlas for TAZ Gene

Publications for TAZ Gene

  1. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PMID: 11238270) Ichida F. … Towbin J.A. (Circulation 2001) 3 4 23 67
  2. Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome. (PMID: 19164547) Malhotra A. … Ren M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  3. A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. (PMID: 19261493) Bachou T. … Kattamis A. (Blood Cells Mol. Dis. 2009) 3 23
  4. The enigmatic role of tafazzin in cardiolipin metabolism. (PMID: 19619503) Houtkooper R.H. … Vaz F.M. (Biochim. Biophys. Acta 2009) 3 23
  5. Characterization of tafazzin splice variants from humans and fruit flies. (PMID: 19700766) Xu Y. … Schlame M. (J. Biol. Chem. 2009) 3 23

Products for TAZ Gene

Sources for TAZ Gene

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