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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6901
Gene name	Tafazzin, phospholipid-lysophospholipid transacylase
Gene symbol	TAFAZZIN
Synonyms (NCBI Gene)	BTHSCMD3AEFEEFE2G4.5LVNCXTAZTaz1
Chromosome	X
Chromosome location	Xq28
Summary	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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-Methylglutaconic aciduria type 2	Likely pathogenic; Pathogenic	rs2148185111, rs2148186224, rs2148191858, rs2522985246, rs727504394, rs727504431, rs2522985522, rs2522990298, rs794729166, rs104894942, rs794729167, rs2522990255, rs2522925422, rs2522987117, rs104894941 View all (56 more)	RCV001385891 RCV001385019 RCV001389198 RCV002282805 RCV000154564 RCV000154666 RCV003066416 RCV002617543 RCV005089930 RCV002516936 RCV003512022 RCV002681793 RCV002745444 RCV003022167 RCV003034414 RCV003052004 RCV003236791 RCV003236792 RCV000230434 RCV004786902 RCV000011849 RCV000011850 RCV000011851 RCV000011852 RCV000011853 RCV000011854 RCV000011855 RCV000011856 RCV000011858 RCV000011859 RCV000011860 RCV000011861 RCV003237251 RCV003237255 RCV003237256 RCV003237259 RCV003237260 RCV003237262 RCV003237263 RCV003237267 RCV003237269 RCV003237270 RCV003237271 RCV003237272 RCV003237273 RCV003237274 RCV003237277 RCV003237278 RCV003237281 RCV003237283 RCV003237289 RCV003237290 RCV003237291 RCV003329097 RCV003513726 RCV003512474 RCV000471301 RCV000816124 RCV000503128 RCV000029171 RCV000578250 RCV005091763 RCV000035087 RCV000035089 RCV000035098 RCV000637296 RCV001844221 RCV000678752 RCV003236840 RCV000809073 RCV000791613 RCV000819778 RCV000818455 RCV000995886 RCV001061128 RCV001061185 RCV001044975 RCV003236876 RCV001283758	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs1569552936, rs2068606932	RCV000770598 RCV001193472	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic	rs2522984951, rs1557191074	RCV002461599 RCV000620932	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic	rs1603377936	RCV000853163	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs727504394, rs727504431, rs387907218	RCV000154564 RCV000154666 RCV000035099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TAFAZZIN-related disorder	Likely pathogenic; Pathogenic	rs132630277, rs2522925387, rs1603381860	RCV003226156 RCV004548512 RCV004723241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs727504431, rs1603376833, rs1057518416, rs1603381860	RCV005888489 RCV005887432 RCV005930812 RCV005902081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTH SYNDROME	—	CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caused by mutation in the tafazzin gene	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 3B	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocardial fibroelastosis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase)