Aliases for NDUFC2 Gene

Aliases for NDUFC2 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit C2 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1, Subcomplex Unknown, 2, 14.5kDa 2 3
  • NADH-Ubiquinone Oxidoreductase Subunit B14.5b 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Subunit C2 3 4
  • Human Lung Cancer Oncogene 1 Protein 3 4
  • Complex I Subunit B14.5b 2 3
  • Complex I-B14.5b 3 4
  • CI-B14.5b 3 4
  • HLC-1 3 4
  • NADH Dehydrogenase (Ubiquinone) 1, Subcomplex Unknown, 2 (14.5kD, B14.5b) 2
  • Human Lung Cancer Oncogene 1 2
  • NADHDH2 3
  • B14.5b 3

External Ids for NDUFC2 Gene

Previous GeneCards Identifiers for NDUFC2 Gene

  • GC11M080106
  • GC11M079318
  • GC11M077950
  • GC11M077505
  • GC11M077457
  • GC11M077779
  • GC11M074077

Summaries for NDUFC2 Gene

GeneCards Summary for NDUFC2 Gene

NDUFC2 (NADH:Ubiquinone Oxidoreductase Subunit C2) is a Protein Coding gene. Among its related pathways are Innate Immune System and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is NDUFC2-KCTD14.

UniProtKB/Swiss-Prot Summary for NDUFC2 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Wiki entry for NDUFC2 Gene

Additional gene information for NDUFC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFC2 Gene

Genomics for NDUFC2 Gene

GeneHancer (GH) Regulatory Elements for NDUFC2 Gene

Promoters and enhancers for NDUFC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J078077 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 508.8 +0.3 278 4.3 EP300 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 NDUFC2 LOC105369401 HSALNG0085960 NDUFC2-KCTD14 KCTD21-AS1 RSF1 THRSP
GH11J078073 Promoter 0.5 EPDnew 500.4 +7.1 7054 0.1 CEBPB RBFOX2 NDUFC2 NDUFC2-KCTD14 THRSP
GH11J078069 Promoter 0.4 EPDnew 500.4 +10.2 10209 0.1 NFIC NDUFC2 THRSP NDUFC2-KCTD14
GH11J078168 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -89.5 -89483 3 SKI TEAD1 RBM25 FOXA2 NR2F2 CEBPB SAP130 ZNF592 ZBTB33 NFE2 piR-47352 piR-50437-090 NDUFC2 THRSP KCTD21 KCTD21-AS1 AAMDC
GH11J078044 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 7.8 +34.7 34663 2.7 ZNF217 CTCF TCF12 ZBTB11 GABPA TRIM28 TARDBP REST MYC TGIF2 KCTD14 KCTD21-AS1 INTS4 NDUFC2 ALG8 AAMDC piR-56186-011 NDUFC2-KCTD14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFC2

Top Transcription factor binding sites by QIAGEN in the NDUFC2 gene promoter:
  • c-Myc
  • HFH-1
  • HOXA3
  • Max
  • NF-1
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for NDUFC2 Gene

Genomic Locations for NDUFC2 Gene
chr11:78,068,297-78,080,219
(GRCh38/hg38)
Size:
11,923 bases
Orientation:
Minus strand
chr11:77,779,350-77,791,265
(GRCh37/hg19)
Size:
11,916 bases
Orientation:
Minus strand

Genomic View for NDUFC2 Gene

Genes around NDUFC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFC2 Gene

Proteins for NDUFC2 Gene

  • Protein details for NDUFC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95298-NDUC2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 subunit C2
    Protein Accession:
    O95298
    Secondary Accessions:
    • E9PNU8
    • E9PRB2
    • Q549M5
    • Q6FIH8
    • Q9UBJ9

    Protein attributes for NDUFC2 Gene

    Size:
    119 amino acids
    Molecular mass:
    14188 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFC2 Gene

    Alternative splice isoforms for NDUFC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFC2 Gene

Post-translational modifications for NDUFC2 Gene

  • Ubiquitination at Lys106 and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFC2 Gene

Antibody Products

  • Abcam antibodies for NDUFC2
  • Boster Bio Antibodies for NDUFC2

No data available for DME Specific Peptides for NDUFC2 Gene

Domains & Families for NDUFC2 Gene

Gene Families for NDUFC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NDUFC2 Gene

Blocks:
  • NADH-ubiquinone oxidoreductase subunit b14.5b
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFC2 Gene

GenScript: Design optimal peptide antigens:
  • NADH dehydrogenase [ubiquinone] 1 subunit C2 (E9PM14_HUMAN)
  • NADH dehydrogenase [ubiquinone] 1 subunit C2 (E9PQ53_HUMAN)
  • NADH dehydrogenase [ubiquinone] 1 subunit C2 (E9PRB2_HUMAN)
  • NADH-ubiquinone oxidoreductase subunit B14.5b (NDUC2_HUMAN)
  • NADH dehydrogenase [ubiquinone] 1 subunit C2 (Q549M5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95298

UniProtKB/Swiss-Prot:

NDUC2_HUMAN :
  • Belongs to the complex I NDUFC2 subunit family.
Family:
  • Belongs to the complex I NDUFC2 subunit family.
genes like me logo Genes that share domains with NDUFC2: view

Function for NDUFC2 Gene

Molecular function for NDUFC2 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Phenotypes From GWAS Catalog for NDUFC2 Gene

Gene Ontology (GO) - Molecular Function for NDUFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 9878551
genes like me logo Genes that share ontologies with NDUFC2: view
genes like me logo Genes that share phenotypes with NDUFC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFC2 Gene

Localization for NDUFC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFC2 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFC2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
lysosome 4
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with NDUFC2: view

Pathways & Interactions for NDUFC2 Gene

genes like me logo Genes that share pathways with NDUFC2: view

Gene Ontology (GO) - Biological Process for NDUFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS,IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0043312 neutrophil degranulation TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFC2: view

No data available for SIGNOR curated interactions for NDUFC2 Gene

Drugs & Compounds for NDUFC2 Gene

(7) Drugs for NDUFC2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carvedilol Approved, Investigational Pharma Antagonist, Target, inhibitor 195
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(3) Additional Compounds for NDUFC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Hydroxycarvedilol
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFC2: view

Transcripts for NDUFC2 Gene

mRNA/cDNA for NDUFC2 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFC2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFC2 Gene

No ASD Table

Relevant External Links for NDUFC2 Gene

GeneLoc Exon Structure for
NDUFC2

Expression for NDUFC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFC2 Gene

This gene is overexpressed in Nasal epithelium (27.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFC2 Gene



Protein tissue co-expression partners for NDUFC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFC2

SOURCE GeneReport for Unigene cluster for NDUFC2 Gene:

Hs.407860

Evidence on tissue expression from TISSUES for NDUFC2 Gene

  • Kidney(4.4)
  • Blood(4.3)
  • Nervous system(4.3)
  • Lung(2.5)
  • Thyroid gland(2.2)
  • Adrenal gland(2.1)
  • Heart(2.1)
  • Intestine(2.1)
  • Liver(2.1)
  • Muscle(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with NDUFC2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFC2 Gene

Orthologs for NDUFC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFC2 31 30
  • 99.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFC2 31 30
  • 83.47 (n)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFC2 30
  • 82.63 (n)
-- 31
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufc2 30
  • 81.51 (n)
mouse
(Mus musculus)
Mammalia Ndufc2 17 31 30
  • 79.55 (n)
chicken
(Gallus gallus)
Aves NDUFC2 31
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 48 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488920 30
  • 53.7 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:110155 30
  • 53.58 (n)
NDUFC2 31
  • 48 (a)
OneToMany
Species where no ortholog for NDUFC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFC2 Gene

ENSEMBL:
Gene Tree for NDUFC2 (if available)
TreeFam:
Gene Tree for NDUFC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFC2: view image

Paralogs for NDUFC2 Gene

Paralogs for NDUFC2 Gene

(1) SIMAP similar genes for NDUFC2 Gene using alignment to 3 proteins:

  • NDUC2_HUMAN
  • E9PM14_HUMAN
  • E9PRJ5_HUMAN
genes like me logo Genes that share paralogs with NDUFC2: view

Variants for NDUFC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFC2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs8875 - p.Leu46Val

Additional dbSNP identifiers (rs#s) for NDUFC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFC2 Gene

Variant ID Type Subtype PubMed ID
nsv1050891 CNV gain 25217958
nsv520740 CNV gain 19592680

Variation tolerance for NDUFC2 Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFC2 Gene

Human Gene Mutation Database (HGMD)
NDUFC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFC2 Gene

Disorders for NDUFC2 Gene

Additional Disease Information for NDUFC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NDUFC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NDUFC2 Gene

Publications for NDUFC2 Gene

  1. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PMID: 9878551) Loeffen JL … Smeitink JA (Biochemical and biophysical research communications 1998) 2 3 4 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41 54

Products for NDUFC2 Gene

Sources for NDUFC2 Gene