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

Gene ID: 4718, updated on 27-Nov-2024

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 inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues See more
Orthologs
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Genomic context

See NDUFC2 in Genome Data Viewer
Location:
11q14.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78068297..78079862, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78001526..78013101, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 5312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3804 Neighboring gene MPRA-validated peak1367 silencer 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 ATAC-STARR-seq lymphoblastoid silent region 3805 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 ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5313 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:77790891-77791080 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

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
part_of respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 

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)

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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
    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_2024_08

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)