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

Gene ID: 4718, updated on 16-Feb-2020

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
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; NADHDH2; CI-B14.5b
Expression
Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues See more
Orthologs

Genomic context

See NDUFC2 in Genome Data Viewer
Location:
11q14.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (78068297..78079862, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77779393..77791265, 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 NDUFC2-KCTD14 readthrough Neighboring gene potassium channel tetramerization domain containing 14 Neighboring gene uncharacterized LOC105369401 Neighboring gene thyroid hormone responsive 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
azurophil granule membrane TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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

NCBI Reference Sequences (RefSeq)

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_001204054.2NP_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:780
    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:796
    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
    O95298
    UniProtKB/TrEMBL
    A0A024R5K6
    Related
    ENSP00000281031.4, ENST00000281031.5
    Conserved Domains (1) summary
    pfam06374
    Location:7119
    NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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