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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3029
Gene name Gene Name - the full gene name approved by the HGNC.	Hydroxyacylglutathione hydrolase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HAGH
Synonyms (NCBI Gene) Gene synonyms aliases	GLO2, GLO2D, GLX2, GLXII, HAGH1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [pro

Show/Hide all(16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029772	hsa-miR-26b-5p	Microarray	19088304
MIRT047796	hsa-miR-30d-5p	CLASH	23622248
MIRT040597	hsa-miR-92b-3p	CLASH	23622248
MIRT1040553	hsa-miR-340	CLIP-seq
MIRT1040554	hsa-miR-3607-3p	CLIP-seq
MIRT1040555	hsa-miR-4282	CLIP-seq
MIRT1040556	hsa-miR-4446-3p	CLIP-seq
MIRT1040557	hsa-miR-4675	CLIP-seq
MIRT1040558	hsa-miR-4731-3p	CLIP-seq
MIRT1040559	hsa-miR-4741	CLIP-seq
MIRT1040560	hsa-miR-4753-3p	CLIP-seq
MIRT1040561	hsa-miR-4801	CLIP-seq
MIRT1040562	hsa-miR-586	CLIP-seq
MIRT1040563	hsa-miR-942	CLIP-seq
MIRT2008492	hsa-miR-4499	CLIP-seq
MIRT2008493	hsa-miR-4680-3p	CLIP-seq

Show/Hide all(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004416	Function	Hydroxyacylglutathione hydrolase activity	IDA	8550579
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006090	Process	Pyruvate metabolic process	TAS
GO:0006750	Process	Glutathione biosynthetic process	IDA	8550579
GO:0019243	Process	Methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
138760	4805	ENSG00000063854

Protein

UniProt ID

Q16775

Protein name

Hydroxyacylglutathione hydrolase, mitochondrial (EC 3.1.2.6) (Glyoxalase II) (Glx II)

Protein function

Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.

PDB

1QH3 , 1QH5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00753	Lactamase_B	57 → 139	Metallo-beta-lactamase superfamily	Domain
PF16123	HAGH_C	222 → 303	Hydroxyacylglutathione hydrolase C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver and kidney. {ECO:0000269|PubMed:15117945}.

Sequence

MVVGRGLLGRRSLAALGAACARRGLGPALLGVFCHTDLRKNLTVDEGTMKVEVLPALTDN
YMYLVIDDETKEAAIVDPVQPQKVVDAARKHGVKLTTVLTTHHHWDHAGGNEKLVKLESG
LKVYGGDDRIGALTHKITHLSTLQVGSLNVKCLATPCHTSGHICYFVSKPGGSEPPAVFT
GDTLFVAGCGKFYEGTADEMCKALLEVLGRLPPDTRVYCGHEYTINNLKFARHVEPGNAA
IREKLAWAKEKYSIGEPTVPSTLAEEFTYNPFMRVREKTVQQHAGETDPVTTMRAVRREK
DQFKMPRD

Sequence length

308

Interactions

View interactions

	KEGG		Reactome
	Pyruvate metabolism Metabolic pathways		Pyruvate metabolism

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	25645869

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	32427856
Arthritis Rheumatoid	Associate	2111123
Breast Neoplasms	Associate	39456676
Diabetes Mellitus	Stimulate	6746903
Neoplasms	Associate	39456676
Rett Syndrome	Stimulate	30781346

HAGH (hydroxyacylglutathione hydrolase)