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NDUFAF2

GENERAL INFORMATION

Gene name

 NDUFAF2

Gene description

 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA054776
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 91942

UniProt

 Q8N183 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8N183

Antibodypedia

 NDUFAF2 antibodies

PROTEIN BROWSER
NDUFAF2-001
NDUFAF2-003
NDUFAF2-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NDUFAF2-001
ENSP00000296597
ENST00000296597
Q8N183 [Direct mapping]
Mimitin, mitochondrial
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0022904 [respiratory electron transport chain]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0061179 [negative regulation of insulin secretion involved in cellular response to glucose stimulus]
GO:0072593 [reactive oxygen species metabolic process]
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 169 aa
19.9 kDa 		No 0
NDUFAF2-003
ENSP00000426149
ENST00000502658
H0YA50 [Direct mapping]
Mimitin, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 51 aa
6 kDa 		No 0
NDUFAF2-004
ENSP00000423377
ENST00000511107
D6RA56 [Direct mapping]
Mimitin, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 60 aa
7.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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