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    C2orf76 chromosome 2 open reading frame 76 [ Homo sapiens (human) ]

    Gene ID: 130355, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C2orf76provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 76provided by HGNC
    Primary source
    HGNC:HGNC:27017
    See related
    Ensembl:ENSG00000186132 AllianceGenome:HGNC:27017
    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
    AIM29
    Expression
    Ubiquitous expression in fat (RPKM 4.1), adrenal (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Try the new Transcript table

    Genomic context

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    See C2orf76 in Genome Data Viewer
    Location:
    2q14.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (119281130..119367151, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119714590..119800689, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120059801..120124727, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STEAP3 metalloreductase Neighboring gene STEAP3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120011987-120012930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120013256-120014122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120016992-120017765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11902 Neighboring gene uncharacterized LOC105373581 Neighboring gene NANOG hESC enhancer GRCh37_chr2:120049626-120050127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120051788-120052288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120052289-120052789 Neighboring gene NANOG hESC enhancer GRCh37_chr2:120064909-120065410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16451 Neighboring gene diazepam binding inhibitor, acyl-CoA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120189865-120190371 Neighboring gene transmembrane protein 37 Neighboring gene secretin receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120231245-120231796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120232347-120232897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120238515-120239026 Neighboring gene VISTA enhancer hs1941 Neighboring gene SCTR antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A Zpr1 co-chaperone mediates folding of eukaryotic translation elongation factor 1A via a GTPase cycle. McQuown AJ, et al. Mol Cell, 2023 Sep 7. PMID 37597513, Free PMC Article
    2. Host determinants of HIV-1 control in African Americans. Pelak K, et al. J Infect Dis, 2010 Apr 15. PMID 20205591, Free PMC Article
    3. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. Havugimana PC, et al. Nat Commun, 2022 Jul 13. PMID 35831314, Free PMC Article

    See all (7) 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.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Host determinants of HIV-1 control in African Americans.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104437

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UPF0538 protein C2orf76

    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_001017927.4 → NP_001017927.2  UPF0538 protein C2orf76 isoform 1

      See identical proteins and their annotated locations for NP_001017927.2

      Status: VALIDATED

      Source sequence(s)
      AC016736, AW015242, BC047365, BC105805, BC144012
      Consensus CDS
      CCDS42739.1
      UniProtKB/Swiss-Prot
      B7ZLS8, Q3KRA6, Q4VC35
      Related
      ENSP00000387234.1, ENST00000409877.5
      Conserved Domains (1) summary
      pfam10209
      Location:8 → 122
      DUF2340; Uncharacterized conserved protein (DUF2340)

    2. NM_001322329.2 → NP_001309258.1  UPF0538 protein C2orf76 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC016736, BC047365, BC105805, BC126397
      Consensus CDS
      CCDS42739.1
      UniProtKB/Swiss-Prot
      B7ZLS8, Q3KRA6, Q4VC35
      Related
      ENSP00000386302.2, ENST00000409466.6
      Conserved Domains (1) summary
      pfam10209
      Location:8 → 122
      DUF2340; Uncharacterized conserved protein (DUF2340)

    3. NM_001322330.2 → NP_001309259.1  UPF0538 protein C2orf76 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC016736, AW015242, BC047365, BC105805, BC126395
      Consensus CDS
      CCDS42739.1
      UniProtKB/Swiss-Prot
      B7ZLS8, Q3KRA6, Q4VC35
      Related
      ENSP00000386714.1, ENST00000409523.1
      Conserved Domains (1) summary
      pfam10209
      Location:8 → 122
      DUF2340; Uncharacterized conserved protein (DUF2340)

    4. NM_001322331.2 → NP_001309260.1  UPF0538 protein C2orf76 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC016736, AW015242, BC105805
      Consensus CDS
      CCDS42739.1
      UniProtKB/Swiss-Prot
      B7ZLS8, Q3KRA6, Q4VC35
      Related
      ENSP00000335041.7, ENST00000334816.12
      Conserved Domains (1) summary
      pfam10209
      Location:8 → 122
      DUF2340; Uncharacterized conserved protein (DUF2340)

    5. NM_001322332.2 → NP_001309261.1  UPF0538 protein C2orf76 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016736, AW015242
      Conserved Domains (1) summary
      pfam10209
      Location:8 → 109
      DUF2340; Uncharacterized conserved protein (DUF2340)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      119281130..119367151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003354.3 → XP_016858843.1  UPF0538 protein C2orf76 isoform X1

    RNA

    1. XR_007069611.1 RNA Sequence

    2. XR_007069609.1 RNA Sequence

    3. XR_001738623.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      119714590..119800689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340529.1 → XP_054196504.1  UPF0538 protein C2orf76 isoform X2

    2. XM_054340531.1 → XP_054196506.1  UPF0538 protein C2orf76 isoform X3

    3. XM_054340532.1 → XP_054196507.1  UPF0538 protein C2orf76 isoform X4

    4. XM_054340530.1 → XP_054196505.1  UPF0538 protein C2orf76 isoform X1

    RNA

    1. XR_008486274.1 RNA Sequence

    2. XR_008486273.1 RNA Sequence

    3. XR_008486272.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KRA6.3 GenPept UniProtKB/Swiss-Prot:Q3KRA6

    Gene LinkOut

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