Cell atlas - NDUFAF2 - The Human Protein Atlas

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NDUFAF2

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TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS MOUSE CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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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
Summary	Localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)
Mouse	Localized to the Mitochondria in mouse cells.

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. HPA048082 , HPA054776
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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
	HPA048082	HEK 293	Mitochondria
	HPA048082	MCF7	Mitochondria
	HPA048082	U-2 OS	Mitochondria
	HPA054776	HEK 293	Mitochondria
	HPA054776	MCF7	Mitochondria
	HPA054776	U-2 OS	Mitochondria

MOUSE CELLS

Main location

Mitochondria

Mouse gene

ENSMUSG00000068184 (version 83)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location
	HPA048082	NIH 3T3	Mitochondria

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 Show all	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] Show all	169 aa 19.9 kDa	No	0
NDUFAF2-003 ENSP00000426149 ENST00000502658	H0YA50 [Direct mapping] Mimitin, mitochondrial Show all	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 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		60 aa 7.1 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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