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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TAZ Gene

protein-coding   GIFtS: 68
GCID: GC0XP153639

Tafazzin

(Previous names: endocardial fibroelastosis 2, cardiomyopathy, dilated 3A...)
(Previous symbols: CMD3A, EFE2, EFE)
  See 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

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:         
NONCODE14:n406535      

Export aliases for TAZ gene to outside databases

Previous GC identifers: GC0XP147703 GC0XP150020 GC0XP151225 GC0XP152107 GC0XP153160 GC0XP153293 GC0XP142217


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with TAZ include barth syndrome, and endocardial fibroelastosis, and among its related super-pathways are Glycerophospholipid biosynthesis and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167198.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TAZ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635 (See protein sequence)
Recommended Name: Tafazzin  
Size: 292 amino acids; 33459 Da
Subcellular location: Isoform 1: Membrane; Single-pass membrane protein
Subcellular location: Isoform 2: Cytoplasm (Probable)
Subcellular location: Isoform 3: Membrane; Single-pass membrane protein
Subcellular location: Isoform 4: Membrane; Single-pass membrane protein
Subcellular location: Isoform 5: Membrane; Single-pass membrane protein
Subcellular location: Isoform 6: Cytoplasm (Probable)
Subcellular location: Isoform 7: Membrane; Single-pass membrane protein
Subcellular location: Isoform 8: Cytoplasm (Probable)
Subcellular location: Isoform 9: Cytoplasm (Probable)
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 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16635

  • TAZ Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TAZ Protein Expression
    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
    Human Recombinant Protein Products for TAZ: 
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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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    TAZ for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for TAZ 
    Cloud-Clone Corp. CLIAs for TAZ


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TAZ for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016746transferase activity, transferring acyl groups ----
    GO:00471841-acylglycerophosphocholine O-acyltransferase activity IDA12930833
         
    TAZ for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TAZ 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TAZ

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAZ 
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    SwitchGear 3'UTR luciferase reporter plasmidTAZ 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TAZ About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    4Mitochondrial Protein Import
    Mitochondrial Protein Import
    5Acyl chain remodeling of CL
    Acyl chain remodeling of CL

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/7        Reactome Pathways for TAZ (see all 7)
        Glycerophospholipid biosynthesis
    Acyl chain remodeling of CL
    Metabolism
    Mitochondrial Protein Import
    Metabolism of proteins


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


    TAZ for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TAZ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/18 Interacting proteins for TAZ (Q166351, 3 ENSP000002993284) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    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 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (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 ----

    TAZ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TAZ for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about TAZ

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/25 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
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    8/9 QIAGEN miScript miRNA 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
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TAZ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAZ
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    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 

    24/106 AceView cDNA sequences (see all 106):

    AY258038 AA334193 AY258039 AI908095 CA488175 AV652922 BQ022464 AY258036 
    BF737852 BF847975 AY258037 AA325413 AY231464 X87198 AI910087 AY231462 
    BM853574 BQ717573 AI651010 BQ439205 AY231461 AW955762 AY231463 BG399024 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TAZ expression in normal human tissues (normalized intensities)      TAZ embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 21 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Osteochondro Mesenchymal Cells Branchial Arch 2
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Osteochondro Mesenchymal Cells Branchial Arch 2
     
     Lung (Respiratory System)

     -- (Respiratory System)
             visceral organ   

    See TAZ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TAZ

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TAZ: 
              Mitochondria in human mouse rat
              Adipogenesis in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TAZ gene from 10/19 species (see all 19)    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 LOC4252811 tafazzin-like 77.02(n)
    79.66(a)
      425281  XM_003643444.1  XP_003643492.1 
    lizard
    (Anolis carolinensis)
    Reptilia TAZ6
    Uncharacterized protein
    80(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_165948.2  NP_725227.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK809.23
    acl-31
    Protein ACL-31 43(a)3
    54.37(n)1
    50.97(a)1
      IV(11650857-11652053)3
    1780951  NM_069801.31  NP_502202.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TAZ1(YPR140W)4 Lyso-phosphatidylcholine acyltransferase, required more   --   16(814391-815536) 856262  NP_015466.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G055101 Phospholipid/glycerol acyltransferase family protein 43.93(n)
    33.9(a)
      819716  NM_111424.2  NP_566254.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09313001 hypothetical protein 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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 SNPs in TAZ are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300394   
    OMIM disorders: 302060  300069  300183  
    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

  • 18 diseases for TAZ:    About MalaCards
    barth syndrome    endocardial fibroelastosis    taz-related dilated cardiomyopathy    left ventricular noncompaction, x-linked
    left ventricular noncompaction    dilated cardiomyopathy    familial dilated cardiomyopathy    familial isolated noncompaction of left ventricular myocardium
    3-methylglutaconic aciduria    short stature    neutropenia    lactic acidosis
    myopathy    hypertrophic cardiomyopathy    hypoglycemia    metabolic disorders
    malignant glioma    lung cancer

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

    TAZ for disorders           About GeneDecksing

    10/13 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)
    About This Section

    PubMed articles for TAZ gene, integrated from 9 sources (see all 111):
    (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. (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. (1997)
    3. A novel X-linked gene, G4.5. is responsible for Barth syndrome. (PubMed id 8630491)1, 2, 9 Bione S....Toniolo D. (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. (2003)
    5. A novel custom resequencing array for dilated cardiom yopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (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. (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. (1997)
    8. Barth syndrome: clinical observations and genetic linkage studies. (PubMed id 8042670)1, 3 Christodoulou J....Clarke J.T. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6901 HGNC: 11577 AceView: TAZ Ensembl:ENSG00000102125 euGenes: HUgn6901
    ECgene: TAZ Kegg: 6901 H-InvDB: TAZ

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/TAZ

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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