NDUFA4L2 Gene

Aliases
for NDUFA4L2 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC12M055915 GC12M054667

Summaries
for NDUFA4L2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for NDUFA4L2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000012.11  NT_029419.13  NC_018923.2  

SwitchGear Promoter luciferase reporter plasmids (see all 2): NDUFA4L2 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA4L2

NDUFA4L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M057629:  view genomic region     (about GC identifiers)

Proteins
for NDUFA4L2 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for NDUFA4L2: NX_Q9NRX3

Explore proteomics data for NDUFA4L2 at MOPED


See NDUFA4L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

NDUFA4L2 Human Recombinant Protein Products:

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	antibodies-online proteins for NDUFA4L2 (2 products)
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NDUFA4L2 Antibody Products:

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NDUFA4L2 Assay Products:

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	antibodies-online kits for NDUFA4L2 (6 products)

Domains /
Families
for NDUFA4L2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9NRX3

Find genes that share domains with NDUFA4L2           About GenesLikeMe

Function
for NDUFA4L2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Localization
for NDUFA4L2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Pathways & Interactions
for NDUFA4L2 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Drugs & Compounds
for NDUFA4L2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for NDUFA4L2 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for NDUFA4L2 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NDUFA4L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CAAGCCACAG

About this image

Bone (Muscoskeletal System)    fully expand to see all 4 entries
Zeugopod Growth Plate
TGFbeta3+BMP7-induced chondrocytes
Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
PureStem SK11, NCr-fac & Meso-prx Progenitor
Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
PureStem SK11, NCr-fac & Meso-prx Progenitor
Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
TGFbeta3+BMP7-induced chondrocytes
Ovary (Reproductive System)    fully expand to see all 2 entries
Granulosa Cells Primary Follicle

Primer Products:		OriGene qPCR primer pairs and template standards for NDUFA4L2 OriGene qSTAR qPCR primer pairs in human, mouse for NDUFA4L2
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NDUFA4L2
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4L2

Orthologs
for NDUFA4L2 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for NDUFA4L2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for NDUFA4L2 gene

NDUFA4²  

3 SIMAP similar genes for NDUFA4L2 using alignment to 2 protein entries:     NUA4L_HUMAN (see all proteins):

NDUFA4    NMES1    C15orf48

Find genes that share paralogs with NDUFA4L2           About GenesLikeMe

Genomic Variants
for NDUFA4L2 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NDUFA4L2 (see all 134)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1453267201,2		--	57629222(+)	AACCCA/GGCCTG	1	--	ut31		0	--	--	--	--
rs1913832361,2		--	57629255(+)	TGGCCA/GGAGTG	1	--	ut31		0	--	--	--	--
rs2003596901,2		--	57629331(+)	CACTGA/GCAGCC	1	--	ut31		0	--	--	--	--
rs1464345371,2	C	--	57629355(+)	AAGTCT/CGGCCG	2	/P	syn1		1		NA	4546
rs1112616741,2	C	--	57629362(+)	GCCGGA/C/TCCTTC	3	D G V	mis1		1		CSA	1
rs1829086101,2		--	57629395(+)	AAACTA/GCAAGG	2	A V	mis1		0	--	--	--	--
rs1997804071,2	C	--	57629409(+)	TAAGAC/GGAGAG	1	--	int1		0	--	--	--	--
rs2015288981,2	C	--	57629497(+)	TAAGAA/GGATGG	1	--	int1		0	--	--	--	--
rs2007135341,2		--	57629499(+)	AGAGGA/TTGGGG	1	--	int1		0	--	--	--	--
rs1995053101,2	C	--	57629523(+)	CCATCA/GAGAGG	1	--	int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for NDUFA4L2 (57628686 - 57634545 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for NDUFA4L2:    About this table    

Variant ID	Type	Subtype	PubMed ID
dgv96n21	CNV	Loss	19592680
nsv519293	CNV	Loss	19592680

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing NDUFA4L2

DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA4L2

Disorders / Diseases
for NDUFA4L2 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for NDUFA4L2 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)^{1, 2} Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
3. How many drug targets are there? (PubMed id 17139284)⁷ Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)
4. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)⁷ Imming P....Meyer A. (Nat Rev Drug Discov 2006)
5. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (Cell 2005)
6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (Nat. Genet. 2004)
7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

External Searches for NDUFA4L2 gene

Genome Databases showing NDUFA4L2 gene

Other Databases showing NDUFA4L2 gene

Specialized Databases showing NDUFA4L2 gene

Products
for NDUFA4L2 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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