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    NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 [ Homo sapiens (human) ]

    Gene ID: 4718, updated on 7-Sep-2023

    Summary

    Official Symbol
    NDUFC2provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit C2provided by HGNC
    Primary source
    HGNC:HGNC:7706
    See related
    Ensembl:ENSG00000151366 MIM:603845; AllianceGenome:HGNC:7706
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLC-1; B14.5b; MC1DN36; NADHDH2; CI-B14.5b
    Summary
    Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NDUFC2 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78068297..78079862, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78001526..78013101, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77779343..77790908, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene adipogenesis associated Mth938 domain containing Neighboring gene integrator complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77643873-77644620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77644621-77645367 Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77727696-77728196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733111-77733678 Neighboring gene uncharacterized LOC124902723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733679-77734248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77734249-77734816 Neighboring gene Sharpr-MPRA regulatory region 11011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77741282-77741794 Neighboring gene Sharpr-MPRA regulatory region 10650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77750634-77751590 Neighboring gene potassium channel tetramerization domain containing 14 Neighboring gene uncharacterized LOC105369401 Neighboring gene thyroid hormone responsive Neighboring gene Sharpr-MPRA regulatory region 11448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77840054-77840872 Neighboring gene ALG8 alpha-1,3-glucosyltransferase Neighboring gene RNA, U6 small nuclear 126, pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough NDUFC2-KCTD14

    Readthrough gene: NDUFC2-KCTD14, Included gene: KCTD14

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 subunit C2
    Names
    NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa
    NADH-ubiquinone oxidoreductase subunit B14.5b
    complex I subunit B14.5b
    complex I-B14.5b
    human lung cancer oncogene 1 protein
    NP_001190983.1
    NP_001190984.1
    NP_004540.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001204054.3NP_001190983.1  NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF087899, AK098173, AP003032, CA414824
      Consensus CDS
      CCDS55781.1
      UniProtKB/Swiss-Prot
      O95298
      Related
      ENSP00000432739.1, ENST00000527806.1
      Conserved Domains (1) summary
      pfam06374
      Location:1080
      NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)
    2. NM_001204055.2NP_001190984.1  NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice sites in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF087899, AP003032, BE740715, CA414824
      Consensus CDS
      CCDS55779.1
      UniProtKB/Swiss-Prot
      O95298
      Related
      ENSP00000434262.1, ENST00000525085.1
      Conserved Domains (1) summary
      pfam06374
      Location:1096
      NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)
    3. NM_004549.6NP_004540.1  NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 1

      See identical proteins and their annotated locations for NP_004540.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF087899, AK022785, AP003032, CA414824
      Consensus CDS
      CCDS8257.1
      UniProtKB/Swiss-Prot
      E9PNU8, E9PRB2, O95298, Q549M5, Q6FIH8, Q9UBJ9
      UniProtKB/TrEMBL
      A0A024R5K6, E9PM14
      Related
      ENSP00000281031.4, ENST00000281031.5
      Conserved Domains (1) summary
      pfam06374
      Location:10119
      NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      78068297..78079862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      78001526..78013101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)