Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TAZ (tafazzin)

Identity

Alias_namesCMD3A
EFE2
EFE
endocardial fibroelastosis 2
cardiomyopathy, dilated 3A (X-linked)
Alias_symbol (synonym)BTHS
XAP-2
G4.5
TAZ1
HGNC (Hugo) TAZ
LocusID (NCBI) 6901
Atlas_Id 42475
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153639854 and ends at 153650063 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C21orf33 (21q22.3) / TAZ (Xq28)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TAZ   11577
LRG (Locus Reference Genomic)LRG_131
Cards
Entrez_Gene (NCBI)TAZ  6901  tafazzin
AliasesBTHS; CMD3A; EFE; EFE2; 
G4.5; LVNCX; Taz1
GeneCards (Weizmann)TAZ
Ensembl hg19 (Hinxton)ENSG00000102125 [Gene_View]  chrX:153639854-153650063 [Contig_View]  TAZ [Vega]
Ensembl hg38 (Hinxton)ENSG00000102125 [Gene_View]  chrX:153639854-153650063 [Contig_View]  TAZ [Vega]
ICGC DataPortalENSG00000102125
TCGA cBioPortalTAZ
AceView (NCBI)TAZ
Genatlas (Paris)TAZ
WikiGenes6901
SOURCE (Princeton)TAZ
Genetics Home Reference (NIH)TAZ
Genomic and cartography
GoldenPath hg19 (UCSC)TAZ  -     chrX:153639854-153650063 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TAZ  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblTAZ - Xq28 [CytoView hg19]  TAZ - Xq28 [CytoView hg38]
Mapping of homologs : NCBITAZ [Mapview hg19]  TAZ [Mapview hg38]
OMIM300394   302060   
Gene and transcription
Genbank (Entrez)AK130900 AK291848 AL531401 AM392997 AM393205
RefSeq transcript (Entrez)NM_000116 NM_001303465 NM_181311 NM_181312 NM_181313 NM_181314
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009634 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)TAZ
Cluster EST : UnigeneHs.409911 [ NCBI ]
CGAP (NCI)Hs.409911
Alternative Splicing GalleryENSG00000102125
Gene ExpressionTAZ [ NCBI-GEO ]   TAZ [ EBI - ARRAY_EXPRESS ]   TAZ [ SEEK ]   TAZ [ MEM ]
Gene Expression Viewer (FireBrowse)TAZ [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6901
GTEX Portal (Tissue expression)TAZ
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16635   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16635  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16635
Splice isoforms : SwissVarQ16635
PhosPhoSitePlusQ16635
Domains : Interpro (EBI)Plipid/glycerol_acylTrfase    Tafazzin   
Domain families : Pfam (Sanger)Acyltransferase (PF01553)   
Domain families : Pfam (NCBI)pfam01553   
Domain families : Smart (EMBL)PlsC (SM00563)  
Conserved Domain (NCBI)TAZ
DMDM Disease mutations6901
Blocks (Seattle)TAZ
SuperfamilyQ16635
Human Protein AtlasENSG00000102125
Peptide AtlasQ16635
HPRD02316
IPIIPI00470369   IPI00470561   IPI00470562   IPI00329790   IPI00470564   IPI00329274   IPI00329788   IPI00470566   IPI00446998   IPI01011514   IPI00747887   IPI00877779   IPI00880075   IPI00877602   IPI00926694   
Protein Interaction databases
DIP (DOE-UCLA)Q16635
IntAct (EBI)Q16635
FunCoupENSG00000102125
BioGRIDTAZ
STRING (EMBL)TAZ
ZODIACTAZ
Ontologies - Pathways
QuickGOQ16635
Ontology : AmiGO1-acylglycerol-3-phosphate O-acyltransferase activity  nucleus  mitochondrion  mitochondrion  mitochondrial inner membrane  cytosol  muscle contraction  heart development  skeletal muscle tissue development  O-acyltransferase activity  integral component of membrane  hemopoiesis  intrinsic component of membrane  mitochondrial membrane  cardiolipin biosynthetic process  mitochondrial respiratory chain complex I assembly  cardiolipin acyl-chain remodeling  cardiolipin acyl-chain remodeling  cristae formation  mitochondrial ATP synthesis coupled electron transport  1-acylglycerophosphocholine O-acyltransferase activity  1-acylglycerophosphocholine O-acyltransferase activity  cardiac muscle tissue development  cardiac muscle contraction  
Ontology : EGO-EBI1-acylglycerol-3-phosphate O-acyltransferase activity  nucleus  mitochondrion  mitochondrion  mitochondrial inner membrane  cytosol  muscle contraction  heart development  skeletal muscle tissue development  O-acyltransferase activity  integral component of membrane  hemopoiesis  intrinsic component of membrane  mitochondrial membrane  cardiolipin biosynthetic process  mitochondrial respiratory chain complex I assembly  cardiolipin acyl-chain remodeling  cardiolipin acyl-chain remodeling  cristae formation  mitochondrial ATP synthesis coupled electron transport  1-acylglycerophosphocholine O-acyltransferase activity  1-acylglycerophosphocholine O-acyltransferase activity  cardiac muscle tissue development  cardiac muscle contraction  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkTAZ
Atlas of Cancer Signalling NetworkTAZ
Wikipedia pathwaysTAZ
Orthology - Evolution
OrthoDB6901
GeneTree (enSembl)ENSG00000102125
Phylogenetic Trees/Animal Genes : TreeFamTAZ
HOVERGENQ16635
HOGENOMQ16635
Homologs : HomoloGeneTAZ
Homology/Alignments : Family Browser (UCSC)TAZ
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAZ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAZ
dbVarTAZ
ClinVarTAZ
1000_GenomesTAZ 
Exome Variant ServerTAZ
ExAC (Exome Aggregation Consortium)TAZ (select the gene name)
Genetic variants : HAPMAP6901
Genomic Variants (DGV)TAZ [DGVbeta]
DECIPHER (Syndromes)X:153639854-153650063  ENSG00000102125
CONAN: Copy Number AnalysisTAZ 
Mutations
ICGC Data PortalTAZ 
TCGA Data PortalTAZ 
Broad Tumor PortalTAZ
OASIS PortalTAZ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTAZ  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTAZ
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TAZ
DgiDB (Drug Gene Interaction Database)TAZ
DoCM (Curated mutations)TAZ (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TAZ (select a term)
intoGenTAZ
Cancer3DTAZ(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300394    302060   
Orphanet635    1059    10750   
MedgenTAZ
Genetic Testing Registry TAZ
NextProtQ16635 [Medical]
TSGene6901
GENETestsTAZ
Huge Navigator TAZ [HugePedia]
snp3D : Map Gene to Disease6901
BioCentury BCIQTAZ
ClinGenTAZ
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6901
Chemical/Pharm GKB GenePA36341
Clinical trialTAZ
Miscellaneous
canSAR (ICR)TAZ (select the gene name)
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTAZ
EVEXTAZ
GoPubMedTAZ
iHOPTAZ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:53:18 CET 2016

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