NDUFAF2

GENERAL INFORMATION

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Gene name

NDUFAF2

Gene description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2

Protein class

Disease related genes
Mitochondrial proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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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

General 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 1 antibody.
HPA054776
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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

NDUFAF2 (HGNC Symbol)

Synonyms

B17.2L, mimitin, MMTN, NDUFA12L

Description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 (HGNC Symbol)

Entrez gene summary

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

Chromosome

5

Cytoband

q12.1

Chromosome location (bp)

60945129 - 61153037

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164182 (version 78.38)

Entrez gene

91942

UniProt

Q8N183 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N183

Antibodypedia

NDUFAF2 antibodies


PROTEIN BROWSER

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ENST00000296597
 
ENST00000502658
 
ENST00000511107
 
 
 
 


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)

NDUFAF2-001 ENSP00000296597
ENST00000296597
Q8N183
Show all »
Show » Show » 169 19.9 No 0
NDUFAF2-003 ENSP00000426149
ENST00000502658
Show » 51 6 No 0
NDUFAF2-004 ENSP00000423377
ENST00000511107
D6RA56
Show all »
Show » 60 7.1 No 0