NDUFS2

GENERAL INFORMATION

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Gene name

NDUFS2

Gene description

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA055140 , HPA061953
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

NDUFS2 (HGNC Symbol)

Synonyms

CI-49

Description

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Chromosome

1

Cytoband

q23.3

Chromosome location (bp)

161197104 - 161214395

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000158864 (version 78.38)

Entrez gene

4720

UniProt

O75306 (UniProt - Evidence at protein level)

neXtProt

NX_O75306

Antibodypedia

NDUFS2 antibodies


PROTEIN BROWSER

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ENST00000367993
 
ENST00000392179
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NDUFS2-001 ENSP00000356972
ENST00000367993
O75306
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Show » Show » 463 52.5 No 0
NDUFS2-201 ENSP00000376018
ENST00000392179
O75306
Show all »
Show » Show » 457 51.9 No 0