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NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough [ Homo sapiens (human) ]

Gene ID: 100532726, updated on 2-Nov-2024

Summary

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Official Symbol
NDUFC2-KCTD14provided by HGNC
Official Full Name
NDUFC2-KCTD14 readthroughprovided by HGNC
Primary source
HGNC:HGNC:42956
See related
Ensembl:ENSG00000259112 AllianceGenome:HGNC:42956
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
Summary
This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011]
Expression
Ubiquitous expression in thyroid (RPKM 27.5), adrenal (RPKM 26.5) and 25 other tissues See more
Orthologs
all
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Genomic context

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See NDUFC2-KCTD14 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 (78015715..78079862, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77948957..78013101, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77726761..77790908, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene remodeling and spacing factor 1 Neighboring gene adipogenesis associated Mth938 domain containing Neighboring gene ribosomal protein L21 pseudogene 95 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 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 ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene potassium channel tetramerization domain containing 14 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 Sharpr-MPRA regulatory region 11448 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77840054-77840872 Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene ALG8 alpha-1,3-glucosyltransferase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
  2. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
  3. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS(G13D). Kennedy SA, et al. Nat Commun, 2020 Jan 24. PMID 31980649, Free PMC Article
  4. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ94527

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in mitochondrial electron transport, NADH to ubiquinone IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
part_of respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2
Names
NADH dehydrogenase [ubiquinone] 1 subunit C2
NDUFC2-KCTD14 readthrough transcript protein

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_001203260.2 → NP_001190189.1  NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AP003032, FY213449
    UniProtKB/TrEMBL
    A0A087WUM3
    Related
    ENSP00000478766.1, ENST00000612612.5
    Conserved Domains (1) summary
    pfam06374
    Location:7 → 102
    NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

  2. NM_001203261.2 → NP_001190190.1  NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 isoform 2

    See identical proteins and their annotated locations for NP_001190190.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AP003032, BG723290
    UniProtKB/Swiss-Prot
    E9PQ53
    UniProtKB/TrEMBL
    E9PM14
    Related
    ENSP00000432614.1, ENST00000530054.1
    Conserved Domains (1) summary
    pfam06374
    Location:7 → 104
    NDUF_C2; NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)

  3. NM_001203262.2 → NP_001190191.1  NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AP003032, FY212410
    UniProtKB/TrEMBL
    A0A087WY27
    Related
    ENSP00000481472.1, ENST00000614236.2
    Conserved Domains (1) summary
    pfam06374
    Location:7 → 56
    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
    78015715..78079862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    77948957..78013101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9PQ53.1 GenPept UniProtKB/Swiss-Prot:E9PQ53

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