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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TAZ Gene

protein-coding GIFtS: 67
GCID: GC0XP153639

tafazzin

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

Explore 14 diseases affiliated with
TAZ via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
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		Protein G4.5² ³
EFE2¹ ² ³ ⁵		LVNCX² ⁵
G4.5¹ ² ³		XAP-2¹
BTHS¹ ² ⁵		Cardiomyopathy, Dilated 3A (X-Linked)¹
CMD3A¹ ² ⁵		Endocardial Fibroelastosis 2¹
EFE¹ ²		Taz1²

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

ORGUL members:
	NONCODE: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:

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)

UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635

Function: Some isoforms may be involved in cardiolipin (CL) metabolism

Gene Wiki entry for TAZ (Tafazzin)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 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 plasmid: TAZ 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16635

TAZ Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000107.1 NP_851828.1 NP_851829.1 NP_851830.1

ENSEMBL proteins:

ENSP00000358805 ENSP00000411182 ENSP00000299328 ENSP00000338891 ENSP00000397388

ENSP00000398564 ENSP00000404246 ENSP00000397324 ENSP00000218246 ENSP00000358791

ENSP00000398193 ENSP00000419854 ENSP00000406257

Reactome Protein details: Q16635
Human Recombinant Protein Products:

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	Novus Biologicals TAZ Protein Novus Biologicals TAZ Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TAZ

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	15304507
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005886	plasma membrane	IDA	--
GO:0016021	integral to membrane	IEA	--

TAZ for ontologies About GeneDecksing

TAZ Antibody Products:

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	Uscn Antibodies for TAZ
	ThermoFisher Antibodies for TAZ

Assay Products for TAZ:

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	Uscn ELISAs and CLIAs for TAZ

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

TAZ for domains About GeneDecksing

2 InterPro domains/families:

IPR000872 Tafazzin

IPR002123 Plipid/glycerol_acylTrfase

Graphical View of Domain Structure for InterPro Entry Q16635

ProtoNet protein and cluster: Q16635

2 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

miRNA Products:		OriGene 3'-UTR Clone (see all 4): TAZ Browse MicroRNA Expression Plasmids
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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 plasmid: TAZ 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TAZ (see all 7) OriGene shRNA RFP: TAZ OriGene siRNA: TAZ
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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TAZ
		Search LifeMap BioReagents cell lines for TAZ

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAZ

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016746	transferase activity, transferring acyl groups	--	--
GO:0047184	1-acylglycerophosphocholine O-acyltransferase activity	IDA	12930833

TAZ for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TAZ:

Increased cell death in HCC-19

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycerophospholipid biosynthesis

	Glycerophospholipid biosynthesis	1.00			Glycerophospholipid metabolism	0.54
	Phospholipid metabolism	0.64

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Acyl chain remodeling of CL

Acyl chain remodeling of CL

1.00

Mitochondrial Protein Import

Mitochondrial Protein Import

1.00

Asparagine N-linked glycosylation

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
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 Central^TM 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 (Q16635^{1, 3} ENSP00000299328⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAE	P62258³, ENSP00000264335⁴	I2D: score=2 STRING: ENSP00000264335
RUNX1	Q01196³, ENSP00000300305⁴	I2D: score=2 STRING: ENSP00000300305
SLC9A3R2	Q15599³, ENSP00000408005⁴	I2D: score=2 STRING: ENSP00000408005
CHGB	P05060³	I2D: score=4
PABPC4	Q13310³	I2D: score=3

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006936	muscle contraction	IMP	17043667
GO:0007507	heart development	IMP	17043667
GO:0007519	skeletal muscle tissue development	IMP	17043667
GO:0030097	hemopoiesis	IMP	17043667

TAZ for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 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,
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, 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 ENST00000369790 ENST00000426834 ENST00000299328(uc004fkx.3 uc004fky.3 uc004fla.3 uc004flb.3 uc010nuy.3)

ENST00000350743 ENST00000454722 ENST00000465540 ENST00000455296(uc004fkz.3)

ENST00000445994 ENST00000433313 ENST00000351413 ENST00000480812 ENST00000369776(uc004flc.4)

ENST00000439735 ENST00000475699 ENST00000426231 ENST00000483780

miRNA Products:		OriGene 3'-UTR Clone (see all 4): TAZ Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TAZ
		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 plasmid: TAZ 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA 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):

BF847975 AY258036 AY258038 AI651010 X87198 BQ022464 BQ717573 AY231461

AI910087 AA334193 AY258039 AW955762 AY231462 AY231464 AI908095 AY258037

BQ439205 AV652922 BM853574 AY231463 CA488175 AA325413 BF737852 AW405626

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTGAAAC

About this image

TAZ expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Caudal Endochondral Bones

Endochondral Preosteoblasts

Selective marker (cell-identifying gene)

Bone

Membranous Facial Bones

Intramembranous Osteoblasts

Bone

Rostral Endochondral Facial Bones

Endochondral Preosteoblasts

Bone

Rostral Skull Membranous Bones

Intramembranous Osteoblasts

Bone

Head Mesenchyme

Branchial Arch 1

Osteochondro Mesenchymal Cells

Bone, Cartilage

Head Mesenchyme

Branchial Arch 2

Osteochondro Mesenchymal Cells

Bone, Cartilage

Head Mesenchyme

Prechordal Mesenchyme

Osteochondro Mesenchymal Cells

Bone, Cartilage

Bone

Autopod Periosteum

Immature Endochondral Osteoblasts

Bone

Caudal Endochondral Bones

Endochondral Osteoblasts

Bone

Cervical Vertebrae

Immature Endochondral Osteoblasts

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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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In Situ
Assay Products:

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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 9/29 species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Taz^{1 , 5}	tafazzin^{1, 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	--	80(a)	1 ↔ 1	2(89813823-89823414)
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
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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146934311^1,2	C,F,	--	153642450(+)	`ATTTTT/CCCAAG`	7	/S /F	mis¹ int¹		1		NA	4548
rs201513598^1,2		--	153642544(+)	`ATAGCA/GGTTCA`	5	--	int¹		0	--	--	--	--
rs12013820^1,2	C,H,	--	153642937(+)	`ggcagA/Gagaat`	5	--	int¹		0	--	--	--	--
rs76080957^1,2	C,	--	153643045(+)	`AAAAAA/TGTGCC`	5	--	int¹		0	--	--	--	--
rs28706542^1,2	C,	--	153643056(+)	`GGCCAC/TGGTGG`	5	--	int¹		5		NA WA	8
rs200088502^1,2		--	153643326(+)	`CGTCT-/GGAAAA`	5	--	int¹		0	--	--	--	--
rs141833743^1,2	C,	--	153643684(+)	`CTCTC-/AAAGTG`	5	--	int¹		0	--	--	--	--
rs186716850^1,2		--	153643813(+)	`GGTAGA/GTAGAT`	5	--	int¹		0	--	--	--	--
rs28401328^1,2	C,	--	153643824(+)	`AGATAG/CGTAGG`	5	--	int¹		6		NA WA CSA	9
rs183795826^1,2		--	153643888(+)	`AGATAC/GATACA`	5	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TAZ (153639854 - 153650065 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TAZ
1 Inversion: 37365
Human Gene Mutation Database (HGMD): TAZ

Locus Specific Mutation Databases (LSDB): TAZ

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

TAZ for disorders           About GeneDecksing

OMIM gene information: 300394
OMIM disorders: 302060  300069  300183
UniProtKB/Swiss-Prot: TAZ_HUMAN, Q16635

Defects in TAZ are the cause of 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

14 diseases for TAZ: About MalaCards

endocardial fibroelastosis left ventricular noncompaction left ventricular noncompaction, x-linked cardiomyopathy

dilated cardiomyopathy barth syndrome 3-methylglutaconic aciduria noncompaction of left ventricular myocardium

short stature familial dilated cardiomyopathy neutropenia metabolic disorders

malignant glioma myopathy

5 diseases from the University of Copenhagen DISEASES database for TAZ:

Barth syndrome Endocardial fibroelastosis Neutropenia Dilated cardiomyopathy

Myopathy

10/13 Novoseek 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

Dilated Cardiomyopathy

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 105):
(articles sorted by number of sources associating them with TAZ)

Utopia: connect your pdf to the dynamic
world of online information

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PubMed id 11238270)^{1, 2, 9} Ichida F.... Towbin J.A. (2001)
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)
A novel X-linked gene, G4.5. is responsible for Barth syndrome. (PubMed id 8630491)^{1, 2, 9} Bione S....Toniolo D. (1996)
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)
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)
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. (PubMed id 9382097)^{1, 2} Bleyl S.B.... Ward K. (1997)
Barth syndrome: clinical observations and genetic linkage studies. (PubMed id 8042670)^{1, 3} Christodoulou J....Clarke J.T. (1994)
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)
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)
Characterization of tafazzin splice variants from hum ans and fruit flies. (PubMed id 19700766)^{1, 9} Xu Y....Schlame M. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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

Name	Description
PharmGKB entry for TAZ	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TAZ	Genetics and Cytogenetics in Oncology and Haematology
TAZbase	http://bioinf.uta.fi/TAZbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TAZ

Intellectual Property for TAZ gene
(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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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