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    TCEANC2 transcription elongation factor A N-terminal and central domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 127428, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TCEANC2provided by HGNC
    Official Full Name
    transcription elongation factor A N-terminal and central domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:26494
    See related
    Ensembl:ENSG00000116205 AllianceGenome:HGNC:26494
    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
    C1orf83
    Summary
    Predicted to be involved in DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 1.1), lymph node (RPKM 0.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TCEANC2 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54053608..54112520)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53936511..53995423)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54519281..54578193)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:54485757-54486258 Neighboring gene low density lipoprotein receptor class A domain containing 1 Neighboring gene MPRA-validated peak239 silencer Neighboring gene transmembrane protein 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 915 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:54518370-54518924 and GRCh37_chr1:54518925-54519480 Neighboring gene microRNA 4781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1053 Neighboring gene COX7B pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54576503-54576742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54603591-54604217 Neighboring gene CUB domain containing protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54630713-54631214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:54646436-54646936 Neighboring gene cytochrome b5 reductase like Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54652758-54652971

    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. Prenatal mercury concentration is associated with changes in DNA methylation at TCEANC2 in newborns. Bakulski KM, et al. Int J Epidemiol, 2015 Aug. PMID 25906783, Free PMC Article
    2. mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells. Merle DA, et al. Antioxidants (Basel), 2021 Dec 3. PMID 34943047, Free PMC Article
    3. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    4. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article
    5. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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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    Homology

    Clone Names

    • FLJ32112, FLJ39169

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcription elongation factor A N-terminal and central domain-containing protein 2
    Names
    transcription elongation factor A (SII) N-terminal and central domain containing 2

    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_153035.3 → NP_694580.1  transcription elongation factor A N-terminal and central domain-containing protein 2

      See identical proteins and their annotated locations for NP_694580.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding variant.
      Source sequence(s)
      AK056674, AL161915, AL353898
      Consensus CDS
      CCDS587.1
      UniProtKB/Swiss-Prot
      Q5T702, Q8N8N2, Q96MN5
      UniProtKB/TrEMBL
      X6R7X0
      Related
      ENSP00000234827.1, ENST00000234827.6
      Conserved Domains (2) summary
      cd00183
      Location:40 → 110
      TFIIS_I; N-terminal domain (domain I) of transcription elongation factor S-II (TFIIS); similar to a domain found in elongin A and CRSP70; likely to be involved in transcription; domain I from TFIIS interacts with RNA polymerase II holoenzyme
      pfam07500
      Location:129 → 203
      TFIIS_M; Transcription factor S-II (TFIIS), central domain

    RNA

    1. NR_130900.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon and differs at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the expected ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK096488, AL161915, AL353898
      Related
      ENST00000498272.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      54053608..54112520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      53936511..53995423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MN5.1 GenPept UniProtKB/Swiss-Prot:Q96MN5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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