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
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

Show/Hide all(28)

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(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	38322995
GO:0005739	Component	Mitochondrion	IDA	15304507, 19700766
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IC	17043667
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	26908608
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007007	Process	Inner mitochondrial membrane organization	IBA
GO:0008374	Function	O-acyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IBA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	23152787
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	15304507, 19700766, 26908608
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IMP	11118295, 16873891, 33096711
GO:0035965	Process	Cardiolipin acyl-chain remodeling	TAS	17043667, 38322995
GO:0042407	Process	Cristae formation	IMP	16857210, 17043667
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	IBA
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	IDA	12930833
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	TAS
GO:1900210	Process	Positive regulation of cardiolipin metabolic process	IEA
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA

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 Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
3-Methylglutaconic aciduria	3-Methylglutaconic aciduria type 2	rs1603376833, rs794729167, rs1569552731, rs104894942, rs876661038, rs1603381671, rs876661112, rs1569552936, rs587776741, rs878853654, rs1603377945, rs387907218, rs1060500044, rs1603381860, rs1603377590 View all (18 more)	N/A
Cardiomyopathy	left ventricular noncompaction cardiomyopathy, Primary dilated cardiomyopathy	rs1603377936, rs387907218	N/A
cardiomyopathy	Cardiomyopathy	rs1569552936	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Barth Syndrome	Barth syndrome	N/A	N/A	GenCC
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	ClinVar

TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase)