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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	387787
Gene name	Lipoyl(octanoyl) transferase 2
Gene symbol	LIPT2
Synonyms (NCBI Gene)	-
Chromosome	11
Chromosome location	11q13.4
Summary	This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Show/Hide all (94)

miRTarBase ID	miRNA	Experiments
MIRT1110667	hsa-let-7a	CLIP-seq
MIRT1110668	hsa-let-7b	CLIP-seq
MIRT1110669	hsa-let-7c	CLIP-seq
MIRT1110670	hsa-let-7d	CLIP-seq
MIRT1110671	hsa-let-7e	CLIP-seq
MIRT1110672	hsa-let-7f	CLIP-seq
MIRT1110673	hsa-let-7g	CLIP-seq
MIRT1110674	hsa-let-7i	CLIP-seq
MIRT1110675	hsa-miR-128	CLIP-seq
MIRT1110676	hsa-miR-144	CLIP-seq
MIRT1110677	hsa-miR-202	CLIP-seq
MIRT1110678	hsa-miR-2110	CLIP-seq
MIRT1110679	hsa-miR-24	CLIP-seq
MIRT1110680	hsa-miR-27a	CLIP-seq
MIRT1110681	hsa-miR-27b	CLIP-seq
MIRT1110682	hsa-miR-3140-3p	CLIP-seq
MIRT1110683	hsa-miR-325	CLIP-seq
MIRT1110684	hsa-miR-3647-3p	CLIP-seq
MIRT1110685	hsa-miR-3675-3p	CLIP-seq
MIRT1110686	hsa-miR-3677-5p	CLIP-seq
MIRT1110687	hsa-miR-3921	CLIP-seq
MIRT1110688	hsa-miR-409-3p	CLIP-seq
MIRT1110689	hsa-miR-4271	CLIP-seq
MIRT1110690	hsa-miR-4284	CLIP-seq
MIRT1110691	hsa-miR-4307	CLIP-seq
MIRT1110692	hsa-miR-433	CLIP-seq
MIRT1110693	hsa-miR-4458	CLIP-seq
MIRT1110694	hsa-miR-4500	CLIP-seq
MIRT1110695	hsa-miR-4649-3p	CLIP-seq
MIRT1110696	hsa-miR-4653-5p	CLIP-seq
MIRT1110697	hsa-miR-4725-3p	CLIP-seq
MIRT1110698	hsa-miR-491-5p	CLIP-seq
MIRT1110699	hsa-miR-5096	CLIP-seq
MIRT1110700	hsa-miR-513a-5p	CLIP-seq
MIRT1110701	hsa-miR-628-3p	CLIP-seq
MIRT1110702	hsa-miR-98	CLIP-seq
MIRT1110667	hsa-let-7a	CLIP-seq
MIRT1110668	hsa-let-7b	CLIP-seq
MIRT1110669	hsa-let-7c	CLIP-seq
MIRT1110670	hsa-let-7d	CLIP-seq
MIRT1110671	hsa-let-7e	CLIP-seq
MIRT1110672	hsa-let-7f	CLIP-seq
MIRT1110673	hsa-let-7g	CLIP-seq
MIRT1110674	hsa-let-7i	CLIP-seq
MIRT1110675	hsa-miR-128	CLIP-seq
MIRT1110676	hsa-miR-144	CLIP-seq
MIRT1110677	hsa-miR-202	CLIP-seq
MIRT1110678	hsa-miR-2110	CLIP-seq
MIRT1110680	hsa-miR-27a	CLIP-seq
MIRT1110681	hsa-miR-27b	CLIP-seq
MIRT1110682	hsa-miR-3140-3p	CLIP-seq
MIRT1110683	hsa-miR-325	CLIP-seq
MIRT1110685	hsa-miR-3675-3p	CLIP-seq
MIRT1110687	hsa-miR-3921	CLIP-seq
MIRT1110689	hsa-miR-4271	CLIP-seq
MIRT1110693	hsa-miR-4458	CLIP-seq
MIRT1110694	hsa-miR-4500	CLIP-seq
MIRT1110695	hsa-miR-4649-3p	CLIP-seq
MIRT1110696	hsa-miR-4653-5p	CLIP-seq
MIRT1110697	hsa-miR-4725-3p	CLIP-seq
MIRT1110698	hsa-miR-491-5p	CLIP-seq
MIRT1110699	hsa-miR-5096	CLIP-seq
MIRT1110700	hsa-miR-513a-5p	CLIP-seq
MIRT1110701	hsa-miR-628-3p	CLIP-seq
MIRT1110702	hsa-miR-98	CLIP-seq
MIRT1110667	hsa-let-7a	CLIP-seq
MIRT1110668	hsa-let-7b	CLIP-seq
MIRT1110669	hsa-let-7c	CLIP-seq
MIRT1110670	hsa-let-7d	CLIP-seq
MIRT1110671	hsa-let-7e	CLIP-seq
MIRT1110672	hsa-let-7f	CLIP-seq
MIRT1110673	hsa-let-7g	CLIP-seq
MIRT1110674	hsa-let-7i	CLIP-seq
MIRT1110677	hsa-miR-202	CLIP-seq
MIRT1110678	hsa-miR-2110	CLIP-seq
MIRT2261588	hsa-miR-2115	CLIP-seq
MIRT1110683	hsa-miR-325	CLIP-seq
MIRT1110685	hsa-miR-3675-3p	CLIP-seq
MIRT2261589	hsa-miR-3714	CLIP-seq
MIRT1110687	hsa-miR-3921	CLIP-seq
MIRT1110689	hsa-miR-4271	CLIP-seq
MIRT1110693	hsa-miR-4458	CLIP-seq
MIRT2261590	hsa-miR-4494	CLIP-seq
MIRT1110694	hsa-miR-4500	CLIP-seq
MIRT1110695	hsa-miR-4649-3p	CLIP-seq
MIRT1110696	hsa-miR-4653-5p	CLIP-seq
MIRT2261591	hsa-miR-4722-5p	CLIP-seq
MIRT1110697	hsa-miR-4725-3p	CLIP-seq
MIRT1110698	hsa-miR-491-5p	CLIP-seq
MIRT2261592	hsa-miR-499a-5p	CLIP-seq
MIRT2261593	hsa-miR-516a-3p	CLIP-seq
MIRT1110701	hsa-miR-628-3p	CLIP-seq
MIRT2261594	hsa-miR-940	CLIP-seq
MIRT1110702	hsa-miR-98	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	28757203
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009249	Process	Protein lipoylation	IEA
GO:0009249	Process	Protein lipoylation	IMP	28757203
GO:0009249	Process	Protein lipoylation	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0033819	Function	Lipoyl(octanoyl) transferase activity	IBA
GO:0033819	Function	Lipoyl(octanoyl) transferase activity	IEA
GO:0033819	Function	Lipoyl(octanoyl) transferase activity	ISS
GO:0033819	Function	Lipoyl(octanoyl) transferase activity	TAS
GO:2000376	Process	Positive regulation of oxygen metabolic process	IMP	28757203

MIM	HGNC	e!Ensembl
617659	37216	ENSG00000175536

A6NK58

Protein name

Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial (Lipoate-protein ligase B) (Lipoyl/octanoyl transferase) (Lipoyltransferase 2) (EC 2.3.1.181) (Octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase)

Protein function

Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein (octanoyl-ACP) onto the lipoyl domains of lipoate-dependent enzymes such as the protein H of the glycine cleavage system (GCSH) (PubMed:28757203). L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03099	BPL_LplA_LipB	69 → 175	Biotin/lipoate A/B protein ligase family	Domain

Sequence

MRQPAVRLVRLGRVPYAELLGLQDRWLRRLQAEPGIEAPSGTEAGALLLCEPAGPVYTAG
LRGGLTPEETARLRALGAEVRVTGRGGLATFHGPGQLLCHPVLDLRRLGLRLRMHVASLE
ACAVRLCELQGLQDARARPPPYTGVWLDDRKICAIGVRCGRHITSHGLALNCSTDLTWFE
HIVPCGLVGTGVTSLSKELQRHVTVEEVMPPFLVAFKEIYKCTLISEDSPN

Sequence length

231

Interactions

View interactions

	KEGG		Reactome
	Lipoic acid metabolism Metabolic pathways Biosynthesis of cofactors		Glyoxylate metabolism and glycine degradation

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	Likely pathogenic; Pathogenic	rs1034676748, rs539962457, rs1190703859	RCV003228730 RCV000505526 RCV000505511	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LIPT2-related disorder	Likely pathogenic	rs539962457	RCV004755942	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
BRUGADA SYNDROME 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY, HEARING LOSS, PONS HYPOPLASIA, BRAIN ATROPHY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOYL TRANSFERASE 1 DEFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOYLTRANSFERASE 1 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Diseases	Brain disease	Pubtator	38129565	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36213577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38129565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	Encephalopathy	GENOMICS_ENGLAND_DG	28757203, 28803783, 30914295		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	Encephalopathy	CLINVAR_DG	28757203		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	Encephalopathy	UNIPROT_DG	28757203		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38159255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38129565	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38129565	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40355831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33588072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38129565	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoyl transferase 2 deficiency	Lipoyltransferase deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	38129565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37259036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	38129565	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LIPT2 (lipoyl(octanoyl) transferase 2)