Cell atlas - L2HGDH - The Human Protein Atlas

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L2HGDH

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	L2HGDH
Gene description	L-2-hydroxyglutarate dehydrogenase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. HPA065409 , HPA069708
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (validated)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA065409	CACO-2	Mitochondria
	HPA065409	MCF7	Mitochondria
	HPA065409	U-2 OS	Mitochondria
	HPA069708	MCF7	Mitochondria
	HPA069708	RT4	Mitochondria
	HPA069708	U-2 OS	Mitochondria

GENE INFORMATION
Gene name	L2HGDH (HGNC Symbol)
Synonyms	C14orf160, FLJ12618
Description	L-2-hydroxyglutarate dehydrogenase (HGNC Symbol)
Entrez gene summary	This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]
Chromosome	14
Cytoband	q21.3
Chromosome location (bp)	50237563 - 50312548
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000087299 (version 83.38)
Entrez gene	79944
UniProt	Q9H9P8 (UniProt - Evidence at protein level)
neXtProt	NX_Q9H9P8
Antibodypedia	L2HGDH antibodies

PROTEIN BROWSER

L2HGDH-001	L2HGDH-002	L2HGDH-003	L2HGDH-004	L2HGDH-007

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
L2HGDH-001 ENSP00000267436 ENST00000267436	Q9H9P8 [Direct mapping] L-2-hydroxyglutarate dehydrogenase, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006103 [2-oxoglutarate metabolic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0031305 [integral component of mitochondrial inner membrane] GO:0044237 [cellular metabolic process] GO:0044267 [cellular protein metabolic process] GO:0044281 [small molecule metabolic process] GO:0047545 [2-hydroxyglutarate dehydrogenase activity] GO:0055114 [oxidation-reduction process] Show all	463 aa 50.3 kDa	No	0
L2HGDH-002 ENSP00000261699 ENST00000261699	C9JVN9 [Direct mapping] L-2-hydroxyglutarate dehydrogenase, mitochondrial Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	441 aa 48.5 kDa	No	0
L2HGDH-003 ENSP00000405559 ENST00000421284	Q9H9P8 [Direct mapping] L-2-hydroxyglutarate dehydrogenase, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006103 [2-oxoglutarate metabolic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0031305 [integral component of mitochondrial inner membrane] GO:0044237 [cellular metabolic process] GO:0044267 [cellular protein metabolic process] GO:0044281 [small molecule metabolic process] GO:0047545 [2-hydroxyglutarate dehydrogenase activity] GO:0055114 [oxidation-reduction process] Show all	463 aa 50.3 kDa	No	0
L2HGDH-004 ENSP00000450494 ENST00000555423	G3V272 [Direct mapping] L-2-hydroxyglutarate dehydrogenase, mitochondrial Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	236 aa 25.2 kDa	No	0
L2HGDH-007 ENSP00000452483 ENST00000555610	G3V5S1 [Direct mapping] L-2-hydroxyglutarate dehydrogenase, mitochondrial Show all	SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	211 aa 22.5 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.