NDUFAF2 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	NDUFAF2
Entrez Gene ID	91942
Full Name	NADH:ubiquinone oxidoreductase complex assembly factor 2
Synonyms	B17.2L,MMTN,NDUFA12L,mimitin
General protein information	Preferred Names NADH:ubiquinone oxidoreductase complex assembly factor 2 Names NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 Myc-induced mitochondrial protein NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 NADH dehydrogenase 1 alpha subcomplex assembly factor 2 NDUFA12-like protein mimitin, mitochondrial
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 5 Map Location: 5q12.1
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].
Disorder MIM:	609653
Disorder Html:	Mitochondrial complex I deficiency, 252010 (3); Leigh syndrome, 256000 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_174889.4	NP_777549.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
NM_174889.5	NP_777549.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Pathways from BioSystems

Homologies

Bos taurus (cattle)	NDUFAF2	NP_001070497.1
Rattus norvegicus (Norway rat)	Ndufaf2	XP_342192.1
Pan troglodytes (chimpanzee)	NDUFAF2	XP_517748.2
	NDUFAF2	XP_001082024.1
Gallus gallus (chicken)	NDUFAF2	NP_001186159.1
Canis lupus familiaris (dog)	NDUFAF2	XP_535246.2
Danio rerio (zebrafish)	ndufaf2	NP_001107122.1
Mus musculus (house mouse)	Ndufaf2	NP_001120818.1
Homo sapiens (human)	NDUFAF2	NP_777549.1
Xenopus tropicalis (tropical clawed frog)	ndufaf2	XP_002934248.1

Gene Ontology
Bibliography

Related articles in PubMed

Mitochondrial respiratory chain disorders in the Old Order Amish population.
Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J
Molecular genetics and metabolism118(4)296-303(2016 08)

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M
Cell164(4)805-17(2016 Feb)

Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines.
Chen M, Huang H, He H, Ying W, Liu X, Dai Z, Yin J, Mao N, Qian X, Pan L
Cancer science106(8)1075-83(2015 Aug)

Effects of the novel mitochondrial protein mimitin in insulin-secreting cells.
Hanzelka K, Skalniak L, Jura J, Lenzen S, Gurgul-Convey E
The Biochemical journal445(3)349-59(2012 Aug)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr].
Title: Mitochondrial respiratory chain disorders in the Old Order Amish population.

Mimitin and 14-3-3 protein zeta/delta are potential markers of paclitaxel resistance and prognostic factors in ovarian cancer.
Title: Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines.

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI
Title: Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

The following NDUFAF2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the NDUFAF2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu18920	NM_174889.5 Latest version!	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu18920	NM_174889.4	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

NDUFAF2 ( NM_174889.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_777549.1 Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), mRNA.

Price & Availability↑

CloneID	OHu18920
Clone ID Related Accession (Same CDS sequence)	NM_174889.4 , NM_174889.5
Accession Version	NM_174889.4	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 510bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-12-17
Organism	Homo sapiens(human)
Product	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK026051.1, AC022445.6, BC001753.1 and AI352161.1. This sequence is a reference standard in the RefSeqGene project. On May 14, 2008 this sequence version replaced NM_174889.3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.329749.1, SRR1803615.260683.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 16200211; reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGGTTGGT CTCAGGATTT GTTCCGCGCC TTGTGGAGAT CGCTGTCAAG GGAAGTGAAG 
GAGCACGTGG GCACGGACCA ATTCGGGAAC AAATACTACT ACATCCCGCA GTACAAGAAC 
TGGAGAGGAC AAACTATTCG AGAGAAAAGA ATTGTAGAAG CAGCAAATAA AAAAGAAGTA 
GACTATGAAG CAGGGGATAT TCCAACAGAA TGGGAAGCTT GGATTAGAAG AACAAGAAAG 
ACTCCACCTA CTATGGAGGA AATACTAAAG AATGAAAAAC ACAGAGAAGA AATCAAAATA 
AAAAGCCAAG ATTTTTATGA AAAAGAAAAA CTCCTTAGTA AAGAGACCAG TGAGGAACTC 
CTGCCTCCAC CAGTTCAAAC TCAAATTAAA GGCCATGCCT CTGCTCCATA CTTTGGAAAG 
GAAGAACCCT CAGTGGCTCC CAGCAGCACT GGTAAAACCT TTCAGCCAGG ATCCTGGATG 
CCACGAGATG GCAAGAGCCA CAATCAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_777549.1
CDS	128..637
Translation	MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ

Target ORF information:

RefSeq Version	NM_174889.4
Organism	Homo sapiens(human)
Definition	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_174889.4

ORF Insert Sequence:

ATGGGTTGGT CTCAGGATTT GTTCCGCGCC TTGTGGAGAT CGCTGTCAAG GGAAGTGAAG 
GAGCACGTGG GCACGGACCA ATTCGGGAAC AAATACTACT ACATCCCGCA GTACAAGAAC 
TGGAGAGGAC AAACTATTCG AGAGAAAAGA ATTGTAGAAG CAGCAAATAA AAAAGAAGTA 
GACTATGAAG CAGGGGATAT TCCAACAGAA TGGGAAGCTT GGATTAGAAG AACAAGAAAG 
ACTCCACCTA CTATGGAGGA AATACTAAAG AATGAAAAAC ACAGAGAAGA AATCAAAATA 
AAAAGCCAAG ATTTTTATGA AAAAGAAAAA CTCCTTAGTA AAGAGACCAG TGAGGAACTC 
CTGCCTCCAC CAGTTCAAAC TCAAATTAAA GGCCATGCCT CTGCTCCATA CTTTGGAAAG 
GAAGAACCCT CAGTGGCTCC CAGCAGCACT GGTAAAACCT TTCAGCCAGG ATCCTGGATG 
CCACGAGATG GCAAGAGCCA CAATCAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

NDUFAF2 ( NM_174889.5 ) cDNA ORF clone, Homo sapiens(human) -> NP_777549.1 Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), mRNA.

Price & Availability↑

CloneID	OHu18920
Clone ID Related Accession (Same CDS sequence)	NM_174889.4 , NM_174889.5
Accession Version	NM_174889.5 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 510bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-29
Organism	Homo sapiens(human)
Product	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK026051.1, AC022445.6 and BC001753.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_174889.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF087990.1, SRR1163655.664687.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 16200211; reported by MitoCarta MANE Ensembl match :: ENST00000296597.10/ ENSP00000296597.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGGTTGGT CTCAGGATTT GTTCCGCGCC TTGTGGAGAT CGCTGTCAAG GGAAGTGAAG 
GAGCACGTGG GCACGGACCA ATTCGGGAAC AAATACTACT ACATCCCGCA GTACAAGAAC 
TGGAGAGGAC AAACTATTCG AGAGAAAAGA ATTGTAGAAG CAGCAAATAA AAAAGAAGTA 
GACTATGAAG CAGGGGATAT TCCAACAGAA TGGGAAGCTT GGATTAGAAG AACAAGAAAG 
ACTCCACCTA CTATGGAGGA AATACTAAAG AATGAAAAAC ACAGAGAAGA AATCAAAATA 
AAAAGCCAAG ATTTTTATGA AAAAGAAAAA CTCCTTAGTA AAGAGACCAG TGAGGAACTC 
CTGCCTCCAC CAGTTCAAAC TCAAATTAAA GGCCATGCCT CTGCTCCATA CTTTGGAAAG 
GAAGAACCCT CAGTGGCTCC CAGCAGCACT GGTAAAACCT TTCAGCCAGG ATCCTGGATG 
CCACGAGATG GCAAGAGCCA CAATCAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_777549.1
CDS	52..561
Translation	MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ

Target ORF information:

RefSeq Version	NM_174889.5
Organism	Homo sapiens(human)
Definition	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_174889.5

ORF Insert Sequence:

ATGGGTTGGT CTCAGGATTT GTTCCGCGCC TTGTGGAGAT CGCTGTCAAG GGAAGTGAAG 
GAGCACGTGG GCACGGACCA ATTCGGGAAC AAATACTACT ACATCCCGCA GTACAAGAAC 
TGGAGAGGAC AAACTATTCG AGAGAAAAGA ATTGTAGAAG CAGCAAATAA AAAAGAAGTA 
GACTATGAAG CAGGGGATAT TCCAACAGAA TGGGAAGCTT GGATTAGAAG AACAAGAAAG 
ACTCCACCTA CTATGGAGGA AATACTAAAG AATGAAAAAC ACAGAGAAGA AATCAAAATA 
AAAAGCCAAG ATTTTTATGA AAAAGAAAAA CTCCTTAGTA AAGAGACCAG TGAGGAACTC 
CTGCCTCCAC CAGTTCAAAC TCAAATTAAA GGCCATGCCT CTGCTCCATA CTTTGGAAAG 
GAAGAACCCT CAGTGGCTCC CAGCAGCACT GGTAAAACCT TTCAGCCAGG ATCCTGGATG 
CCACGAGATG GCAAGAGCCA CAATCAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Mitochondrial respiratory chain disorders in the Old Order Amish population.
Molecular genetics and metabolism118(4)296-303(2016 08)
Ghaloul-Gonzalez L,Goldstein A,Walsh Vockley C,Dobrowolski SF,Biery A,i A,Ibarra J,Morton DH,Mohsen AW,Vockley J

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell164(4)805-17(2016 Feb)
Yang X,Coulombe-Huntington J,Kang S,Sheynkman GM,Hao T,Richardson A,Sun S,Yang F,Shen YA,Murray RR,Spirohn K,Begg BE,Duran-Frigola M,MacWilliams A,Pevzner SJ,Zhong Q,Trigg SA,Tam S,Ghamsari L,Sahni N,Yi S,Rodriguez MD,Balcha D,Tan G,Costanzo M,Andrews B,Boone C,Zhou XJ,Salehi-Ashtiani K,Charloteaux B,Chen AA,Calderwood MA,Aloy P,Roth FP,Hill DE,Iakoucheva LM,Xia Y,Vidal M

Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines.
Cancer science106(8)1075-83(2015 Aug)
Chen M,Huang H,He H,Ying W,Liu X,Dai Z,Yin J,Mao N,Qian X,Pan L

Effects of the novel mitochondrial protein mimitin in insulin-secreting cells.
The Biochemical journal445(3)349-59(2012 Aug)
Hanzelka K,Skalniak L,Jura J,Lenzen S,Gurgul-Convey E

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NDUFAF2 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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