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TAZ Gene

protein-coding   GIFtS: 67
GCID: GC0XP153639

Tafazzin

(Previous names: endocardial fibroelastosis 2, cardiomyopathy, dilated 3A...)
(Previous symbols: CMD3A, EFE2, EFE)
  See TAZ-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
tafazzin1 2     BTHS2 5
EFE21 2 3 5     LVNCX2 5
CMD3A1 2 5     Barth Syndrome1
EFE1 2     Cardiomyopathy, Dilated 3A (X-Linked)1
Protein G4.52 3     Endocardial Fibroelastosis 21
G4.52 3     Taz12

External Ids:    HGNC: 115771   Entrez Gene: 69012   Ensembl: ENSG000001021257   OMIM: 3003945   UniProtKB: Q166353   
ORGUL members:         

Export aliases for TAZ gene to outside databases

Previous GC identifers: GC0XP147703 GC0XP150020 GC0XP151225 GC0XP152107 GC0XP153160 GC0XP153293 GC0XP142217


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 taz-related dilated cardiomyopathy. GO annotations related to this gene include 1-acylglycerophosphocholine O-acyltransferase activity.

UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635
Function: Some isoforms may be involved in cardiolipin (CL) metabolism

Gene Wiki entry for TAZ (Tafazzin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TAZ gene promoter:
         AP-1   AML1a   ATF-2   c-Jun   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTAZ promoter sequence
   Search Chromatin IP Primers for TAZ

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TAZ


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

TAZ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAZ gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153639:  view genomic region     (about GC identifiers)

Start:
153,639,854 bp from pter      End:
153,650,065 bp from pter
Size:
10,212 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635 (See protein sequence)
Recommended Name: Tafazzin  
Size: 292 amino acids; 33459 Da
Secondary accessions: A3KQT2 D3DWX2 Q5HY43 Q5HY44 Q5HY45 Q5HY48 Q86XQ6 Q86XQ7 Q86XQ8 Q86XQ9
Q86XR0
Alternative splicing: 9 isoforms:  Q16635-1   Q16635-2   Q16635-3   Q16635-4   Q16635-5   Q16635-6   Q16635-7   Q16635-8   
Q16635-9   

Explore the universe of human proteins at neXtProt for TAZ: NX_Q16635

Explore proteomics data for TAZ at MOPED


See TAZ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_000107.1  NP_851828.1  NP_851829.1  NP_851830.1  

ENSEMBL proteins: 
 ENSP00000411182   ENSP00000358805   ENSP00000397388   ENSP00000338891   ENSP00000299328  
 ENSP00000398564   ENSP00000404246   ENSP00000397324   ENSP00000218246   ENSP00000358791  
 ENSP00000398193   ENSP00000419854   ENSP00000406257  
Reactome Protein details: Q16635

TAZ Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for TAZ
OriGene Custom MassSpec
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Novus Biologicals TAZ Protein
Novus Biologicals TAZ Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for TAZ

 
Search eBioscience for Proteins for TAZ 

TAZ Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of TAZ
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Abcam antibodies for TAZ
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ThermoFisher Antibodies for TAZ
LSBio Antibodies in human, mouse, rat for TAZ

TAZ Assay Products:

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Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for TAZ
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for TAZ
Cloud-Clone Corp. CLIAs for TAZ
Search eBioscience for ELISAs for TAZ 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR000872 Tafazzin
 IPR002123 Plipid/glycerol_acylTrfase

Graphical View of Domain Structure for InterPro Entry Q16635

ProtoNet protein and cluster: Q16635

2 Blocks protein domains:
IPB000872 Tafazzin signature
IPB002123 Phospholipid/glycerol acyltransferase


UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635
Domain: The hydrophilic domain may serve as an exposed loop interacting with other proteins
Similarity: Belongs to the taffazin family


Find genes that share domains with TAZ           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: TAZ_HUMAN, Q16635
Function: Some isoforms may be involved in cardiolipin (CL) metabolism

     Genatlas biochemistry entry for TAZ:
tafazzin,X-linked sequences XAP-2,expressed in brain and muscle,with as many as 10 alternative spliced forms

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016746transferase activity, transferring acyl groups ----
GO:00471841-acylglycerophosphocholine O-acyltransferase activity IDA12930833
     
Find genes that share ontologies with TAZ           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for TAZ:
 Increased cell death in HCC-19 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TAZ
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TAZ

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAZ
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TAZ

miRNA
Products:
    
miRTarBase miRNAs that target TAZ:
hsa-let-7c-5p (MIRT051742), hsa-mir-652-3p (MIRT039496), hsa-mir-335-5p (MIRT017100), hsa-mir-26b-5p (MIRT029020)

Block miRNA regulation of human, mouse, rat TAZ using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate TAZ (see all 9):
hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-610 hsa-miR-455-3p hsa-miR-544b hsa-miR-125b hsa-miR-670 hsa-miR-3714
SwitchGear 3'UTR luciferase reporter plasmidTAZ 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for TAZ
Predesigned siRNA for gene silencing in human, mouse, rat TAZ

Gene Editing
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DNA2.0 Custom Protein Engineering Service for TAZ

Clone
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OriGene clones in human, mouse for TAZ (see all 22)
OriGene ORF clones in mouse, rat for TAZ
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): TAZ (NM_000116)
Sino Biological Human cDNA Clone for TAZ
DNA2.0 Custom Codon Optimized Gene Synthesis Service for TAZ
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAZ
Addgene plasmids for TAZ 

Cell Line
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GenScript Custom overexpressing Cell Line Services for TAZ
Browse ESI BIO Cell Lines and PureStem Progenitors for TAZ 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAZ

Flow Cytometry
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eBioscience FlowRNA Probe Sets ( VA1-12370) for TAZ 


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TAZ_HUMAN, Q16635: Isoform 1: Membrane; Single-pass membrane protein
TAZ_HUMAN, Q16635: Isoform 2: Cytoplasm (Probable)
TAZ_HUMAN, Q16635: Isoform 3: Membrane; Single-pass membrane protein
TAZ_HUMAN, Q16635: Isoform 4: Membrane; Single-pass membrane protein
TAZ_HUMAN, Q16635: Isoform 5: Membrane; Single-pass membrane protein
TAZ_HUMAN, Q16635: Isoform 6: Cytoplasm (Probable)
TAZ_HUMAN, Q16635: Isoform 7: Membrane; Single-pass membrane protein
TAZ_HUMAN, Q16635: Isoform 8: Cytoplasm (Probable)
TAZ_HUMAN, Q16635: Isoform 9: Cytoplasm (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion4
plasma membrane4
extracellular2
cytosol1
lysosome1
nucleus1
peroxisome1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA15304507
GO:0005743mitochondrial inner membrane TAS--
GO:0005886plasma membrane ----
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with TAZ           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for TAZ About    
See pathways by source

SuperPathContained pathways About
1Glycerophospholipid biosynthesis
Glycerophospholipid biosynthesis0.64
Glycerophospholipid metabolism0.62
Phospholipid metabolism0.64
Acyl chain remodeling of CL0.00
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Metabolism of proteins0.30
4Mitochondrial Protein Import
Mitochondrial Protein Import


Find genes that share SuperPaths with TAZ           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Reactome Pathways for TAZ
    Acyl chain remodeling of CL
Mitochondrial protein import


1 Kegg Pathway  (Kegg details for TAZ):
    Glycerophospholipid metabolism

    Pathway & Disease-focused RT2 Profiler PCR Arrays including TAZ: 
          Mitochondria in human mouse rat
          Adipogenesis in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for TAZ

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for TAZ (Q166351, 3 ENSP000002993284) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
InteractantInteraction Details
GeneCardExternal ID(s)
YWHAEP622583, ENSP000002643354I2D: score=2 STRING: ENSP00000264335
RUNX1Q011963, ENSP000003003054I2D: score=2 STRING: ENSP00000300305
SLC9A3R2Q155993, ENSP000004080054I2D: score=2 STRING: ENSP00000408005
CHGBP050603I2D: score=4 
PABPC4Q133103I2D: score=3 
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Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006644phospholipid metabolic process TAS--
GO:0006936muscle contraction IMP17043667
GO:0007507heart development IMP17043667
GO:0007519skeletal muscle tissue development IMP17043667
GO:0008152metabolic process ----

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TAZ

9 Novoseek inferred chemical compound relationships for TAZ gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
cardiolipin 88.8 97 12194913 (6), 14662265 (5), 19619503 (4), 12562862 (3) (see all 28)
phospholipid 61.2 22 19416646 (2), 19416660 (2), 15806137 (2), 19057200 (1) (see all 13)
phosphatidylethanolamine 41.4 2 15806137 (1)
linoleic acid 35.5 7 12562862 (4)
phosphatidylcholine 34.4 3 15806137 (2)
fatty acid 27.1 7 15806137 (2), 19700766 (1), 17558022 (1), 14662265 (1)
atp 19.6 1 15806137 (1)
lipid 3.93 6 14662265 (2), 16880272 (1), 15806137 (1), 12930833 (1)
carbon 2.05 1 19416646 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TAZ gene (5 alternative transcripts): 
NM_000116.3  NM_181311.2  NM_181312.2  NM_181313.2  NM_181314.1  

Unigene Cluster for TAZ:

Tafazzin
Hs.409911  [show with all ESTs]
Unigene Representative Sequence: AK130900
Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
ENST00000369793 ENST00000476307 ENST00000426834 ENST00000369790 ENST00000454722
ENST00000350743 ENST00000299328(uc004fkx.3 uc004fky.3 uc004fla.3 uc004flb.3 uc010nuy.3)
ENST00000465540 ENST00000455296(uc004fkz.3) ENST00000445994 ENST00000433313
ENST00000351413 ENST00000480812 ENST00000369776(uc004flc.4) ENST00000439735
ENST00000475699 ENST00000426231 ENST00000483780
miRNA
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Block miRNA regulation of human, mouse, rat TAZ using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate TAZ (see all 9):
hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-610 hsa-miR-455-3p hsa-miR-544b hsa-miR-125b hsa-miR-670 hsa-miR-3714
SwitchGear 3'UTR luciferase reporter plasmidTAZ 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for TAZ
Predesigned siRNA for gene silencing in human, mouse, rat TAZ
Clone
Products:
     
OriGene clones in human, mouse for TAZ (see all 22)
OriGene ORF clones in mouse, rat for TAZ
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): TAZ (NM_000116)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for TAZ
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAZ
Addgene plasmids for TAZ 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for TAZ
OriGene qSTAR qPCR primer pairs in human, mouse for TAZ
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TAZ
  QuantiTect SYBR Green Assays in human, mouse, rat TAZ
  QuantiFast Probe-based Assays in human, mouse, rat TAZ
Flow Cytometry
Products:
   

 
eBioscience FlowRNA Probe Sets ( VA1-12370) for TAZ 

Additional mRNA sequence: 

AK130900.1 AK291848.1 AY231461.1 AY231462.1 AY231463.1 AY231464.1 AY258036.1 AY258037.1 
AY258038.1 AY258039.1 BC011515.1 DQ884408.1 NR_024048.1 X74607.1 X87198.1 X92762.1 

24 DOTS entries:

DT.100825362  DT.100825368  DT.86858881  DT.100825367  DT.40265819  DT.414653  DT.91765179  DT.121293630 
DT.95319738  DT.92038475  DT.414654  DT.75103612  DT.100024770  DT.100719053  DT.100763012  DT.95314568 
DT.95319732  DT.100825356  DT.100825366  DT.121294065  DT.414655  DT.95104668  DT.121294518  DT.91670876 

Selected AceView cDNA sequences (see all 106):

AI910087 AV652922 AY258036 AI651010 BM853574 AY231463 AY258037 AY231462 
CA488175 BQ717573 AA334193 AY231464 BQ022464 AI908095 AY258038 AY231461 
BF847975 AW955762 BQ439205 X87198 AA325413 AY258039 BF737852 BF304641 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for TAZ (see all 10)    About this scheme

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:                          -     -                 -     -           -     -                                                                                 


ECgene alternative splicing isoforms for TAZ

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TAZ expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTTTGAAAC
TAZ Expression
About this image


TAZ expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Bone (Muscoskeletal System)    fully expand to see all 18 entries
         Endochondral Preosteoblasts Caudal Endochondral Bones
 
 Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
         Osteochondro Progenitor Cells Branchial Arch 1
 
 Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
         Osteochondro Progenitor Cells Branchial Arch 1
 
 Lung (Respiratory System)
TAZ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TAZ Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.409911

UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635
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

    Pathway & Disease-focused RT2 Profiler PCR Arrays including TAZ: 
          Mitochondria in human mouse rat
          Adipogenesis in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for TAZ
OriGene qSTAR qPCR primer pairs in human, mouse for TAZ
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TAZ
QuantiTect SYBR Green Assays in human, mouse, rat TAZ
QuantiFast Probe-based Assays in human, mouse, rat TAZ
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAZ

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for TAZ gene from Selected species (see all 22)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Taz1 , 5 tafazzin1, 5 91.09(n)1
97.33(a)1
  X (37.95 cM)5
668261  NM_001173547.11  NP_001167018.11 
 742819125 
chicken
(Gallus gallus)
Aves TAZ6
tafazzin
82(a)
1 ↔ 1
JH375572.1(3249-4460)
lizard
(Anolis carolinensis)
Reptilia TAZ6
tafazzin
79(a)
1 ↔ 1
2(89805683-89823996)
African clawed frog
(Xenopus laevis)
Amphibia Xl.184882 Xenopus laevis transcribed sequence with strong similarity more 86.9(n)    BG347078.1 
zebrafish
(Danio rerio)
Actinopterygii taz1 tafazzin 66.92(n)
67.95(a)
  321965  NM_001001814.1  NP_001001814.1 
fruit fly
(Drosophila melanogaster)
Insecta Taz1 Tafazzin 56.21(n)
47.06(a)
  36405  NM_001201987.1  NP_001188916.1 
worm
(Caenorhabditis elegans)
Secernentea ZK809.23
acl-31
acl-31 43(a)3
50.27(n)1
47.56(a)1
  IV(11650857-11652053)3
1780951  NM_069801.41  NP_502202.21 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAZ1(YPR140W)4
TAZ11
Lyso-phosphatidylcholine acyltransferase, required more4
TAZ11
38.79(n)1
31.9(a)1
  16(814391-815536)4
8562621, 4  NP_015466.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G055101 AT3G05510 43.66(n)
33.47(a)
  819716  NM_111424.2  NP_566254.1 
rice
(Oryza sativa)
Liliopsida Os01g09313001 Os01g0931300 45.4(n)
35.78(a)
  4326817  NM_001051831.2  NP_001045296.2 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TAZ (see all 141)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0141114
Barth syndrome (BTHS)4--see VAR_0141112 C R mis40--------
VAR_0684344
Barth syndrome (BTHS)4--see VAR_0684342 G R mis40--------
VAR_0141124
Barth syndrome (BTHS)4--see VAR_0141122 G R mis40--------
VAR_0141104
Barth syndrome (BTHS)4--see VAR_0141102 R S mis40--------
rs626178091,2
Cunknown1153508696(+) CTGACC/G/TTCTCC 5 -- int13NA CSA 5
rs1932809241,2
--153513925(+) ATGGCC/TAGAGA 5 -- int10--------
rs1854936431,2
--153513946(+) CCAGGC/TGCCTG 5 -- int10--------
rs1883433601,2
--153514076(+) GCAGCA/GGGGGA 5 -- int10--------
rs1380960341,2
--153514130(+) GGAGGA/CAAAAG 5 -- int10--------
rs174321,2
C,H--153514325(+) TGGAGC/TGGTTT 5 -- int19Minor allele frequency- T:0.01NA EA NS 778

HapMap Linkage Disequilibrium report for TAZ (153639854 - 153650065 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for TAZ:    About this table    
Variant IDTypeSubtypePubMed ID
nsv519042CNV Gain19592680
esv33199CNV Gain+Loss17666407
esv33784CNV Gain+Loss17666407
nsv7468OTHER Inversion18451855

Human Gene Mutation Database (HGMD): TAZ
Locus Specific Mutation Databases (LSDB): TAZ

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TAZ
DNA2.0 Custom Variant and Variant Library Synthesis for TAZ

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300394   
OMIM disorders: 302060  
UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for TAZ:    
    About MalaCards
    barth syndrome    taz-related dilated cardiomyopathy    endocardial fibroelastosis    familial isolated noncompaction of left ventricular myocardium
    left ventricular noncompaction    dilated cardiomyopathy    cardiomyopathy, dilated, 1w    familial dilated cardiomyopathy
    left ventricular noncompaction 1, with or without congenital heart defects

    5 diseases from the University of Copenhagen DISEASES database for TAZ:
    Barth syndrome     Endocardial fibroelastosis     Neutropenia     Dilated cardiomyopathy
    Myopathy

    Find genes that share disorders with TAZ           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TAZ gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    barth syndrome 99.2 105 16794186 (4), 12468278 (3), 9345098 (3), 19261493 (3) (see all 48)
    cardiomyopathy, dilated, x-linked 83.2 2 11896212 (1), 9382096 (1)
    myopathy 77.6 21 9382096 (1), 14764526 (1), 19164547 (1), 7616547 (1) (see all 14)
    endocardial fibroelastosis 77.6 4 9382096 (1), 16548007 (1)
    cardiomyopathy 76.7 29 14662265 (4), 9382096 (2), 12468278 (2), 11238270 (2) (see all 9)
    dilated cardiomyopathy 72.8 12 11896212 (1), 9382096 (1), 14764526 (1), 7616547 (1) (see all 9)
    neutropenia 72.2 23 19057200 (4), 9382096 (1), 14764526 (1), 12483111 (1) (see all 15)
    short stature 59.4 6 9382096 (1), 7616547 (1), 12930833 (1), 9792874 (1) (see all 5)
    heart defects congenital 45.7 1 12749056 (1)
    growth retardation 36.7 4 16794186 (2), 14662265 (1)

    GeneTests: TAZ
    GeneReviews: TAZ
    Genetic Association Database (GAD): TAZ
    Human Genome Epidemiology (HuGE) Navigator: TAZ (3 documents)

    Export disorders for TAZ gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TAZ gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with TAZ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PubMed id 11238270)1, 2, 9 Ichida F.... Towbin J.A. (Circulation 2001)
    2. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. (PubMed id 9382096)1, 2, 9 D'Adamo P.... Toniolo D. (Am. J. Hum. Genet. 1997)
    3. A novel X-linked gene, G4.5. is responsible for Barth syndrome. (PubMed id 8630491)1, 2, 9 Bione S....Toniolo D. (Nat. Genet. 1996)
    4. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. (PubMed id 12930833)1, 2, 9 Vaz F.M.... Wanders R.J. (J. Biol. Chem. 2003)
    5. A novel custom resequencing array for dilated cardiomyopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (Genet. Med. 2010)
    6. Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome. (PubMed id 12032589)1, 2 Sakamoto O.... Iinuma K. (J. Hum. Genet. 2002)
    7. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. (PubMed id 9382097)1, 2 Bleyl S.B.... Ward K. (Am. J. Hum. Genet. 1997)
    8. Barth syndrome: clinical observations and genetic linkage studies. (PubMed id 8042670)1, 3 Christodoulou J....Clarke J.T. (Am. J. Med. Genet. 1994)
    9. Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. (PubMed id 15499385)1, 9 Lu B....Hatch G.M. (Biochem. Cell Biol. 2004)
    10. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. (PubMed id 11896212)1, 9 Bissler J.J....Hug G. ( a journal of technical methods and pathology 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6901 HGNC: 11577 AceView: TAZ Ensembl:ENSG00000102125 euGenes: HUgn6901
    ECgene: TAZ Kegg: 6901 H-InvDB: TAZ

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TAZ Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TAZ Genetics and Cytogenetics in Oncology and Haematology
    TAZbasehttp://bioinf.uta.fi/TAZbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TAZ[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TAZ gene:
    Search GeneIP for patents involving TAZ

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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