Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6901
Gene name Gene Name - the full gene name approved by the HGNC.	Tafazzin, phospholipid-lysophospholipid transacylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TAFAZZIN
Synonyms (NCBI Gene) Gene synonyms aliases	BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BTHS
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez 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, endocard

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SNP ID	Visualize variation	Clinical significance	Consequence
rs132630277	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200909606	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs387907218	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397515746	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397515747	G>A	Pathogenic	Splice acceptor variant
rs397515750	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs587776741	G>C	Pathogenic	Missense variant, splice acceptor variant, coding sequence variant
rs727504394	TG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs727504431	G>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs781795144	C>G,T	Likely-pathogenic	Intron variant
rs794729167	G>A	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs794729174	C>T	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs876661038	A>G	Pathogenic	Intron variant, splice acceptor variant
rs876661112	A>G	Likely-pathogenic	Splice acceptor variant
rs878853656	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, missense variant, stop gained, coding sequence variant
rs1057515818	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs1057518416	G>A	Pathogenic	Splice donor variant
rs1085307797	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1298362744	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1557193815	G>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1557193821	->G	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1557194077	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557194488	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1557194525	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1569552936	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603381671	AGTG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603381860	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603382251	->GGCTG	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005739	Component	Mitochondrion	IC	16857210
GO:0005739	Component	Mitochondrion	IDA	15304507
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006936	Process	Muscle contraction	IMP	17043667
GO:0007007	Process	Inner mitochondrial membrane organization	IBA	21873635
GO:0007507	Process	Heart development	IMP	17043667
GO:0007519	Process	Skeletal muscle tissue development	IMP	17043667
GO:0008374	Function	O-acyltransferase activity	IBA	21873635
GO:0008374	Function	O-acyltransferase activity	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0030097	Process	Hemopoiesis	IMP	17043667
GO:0031966	Component	Mitochondrial membrane	IBA	21873635
GO:0032049	Process	Cardiolipin biosynthetic process	IMP	11118295, 16873891, 17043667
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	16857210
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IBA	21873635
GO:0035965	Process	Cardiolipin acyl-chain remodeling	TAS
GO:0042407	Process	Cristae formation	IMP	17043667
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IDA	15304507
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	IBA	21873635
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	IDA	12930833
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	TAS
GO:0048738	Process	Cardiac muscle tissue development	IMP	17043667
GO:0060048	Process	Cardiac muscle contraction	IMP	17043667

MIM	HGNC	e!Ensembl
300394	11577	ENSG00000102125

Protein

UniProt ID

Q16635

Protein name

Tafazzin (Taz) (EC 2.3.1.-) (Protein G4.5)

Protein function

Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adeq

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01553	Acyltransferase	41 → 215	Acyltransferase	Family

Tissue specificity

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

Sequence

MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPA
TPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVP
VCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPE
GKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIG
KPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR

Sequence length

292

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism		Mitochondrial protein import Acyl chain remodeling of CL

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Barth Syndrome	Barth syndrome			GenCC

TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase)