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    C2orf78 chromosome 2 open reading frame 78 [ Homo sapiens (human) ]

    Gene ID: 388960, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C2orf78provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 78provided by HGNC
    Primary source
    HGNC:HGNC:34349
    See related
    Ensembl:ENSG00000187833 AllianceGenome:HGNC:34349
    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
    COG5373; hCG1989538
    Expression
    Restricted expression toward testis (RPKM 6.1) See more
    Orthologs
    all
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    Genomic context

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    Location:
    2p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73784183..73817148)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73797277..73825339)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74011310..74044275)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16031 Neighboring gene TP53RK binding protein Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73981125-73981308 Neighboring gene dual specificity phosphatase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16034 Neighboring gene uncharacterized LOC105374807 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74055859-74056077 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:74057585-74058784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16035 Neighboring gene uncharacterized LOC112268419 Neighboring gene STAM binding protein

    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
    • 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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, 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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    Homology

    Clone Names

    • FLJ43987

    General protein information

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    Preferred Names
    uncharacterized protein C2orf78

    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_001080474.3 → NP_001073943.1  uncharacterized protein C2orf78

      See identical proteins and their annotated locations for NP_001073943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC092653, AC136006
      Consensus CDS
      CCDS46338.1
      UniProtKB/Swiss-Prot
      A6NCI8
      Related
      ENSP00000387124.1, ENST00000409561.2
      Conserved Domains (2) summary
      pfam15442
      Location:495 → 643
      DUF4629; Domain of unknown function (DUF4629)
      cl26464
      Location:711 → 881
      Atrophin-1; Atrophin-1 family

    2. NM_001353344.3 → NP_001340273.1  uncharacterized protein C2orf78

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC136006
      UniProtKB/Swiss-Prot
      A6NCI8
      Conserved Domains (2) summary
      pfam15442
      Location:495 → 643
      DUF4629; Domain of unknown function (DUF4629)
      cl26464
      Location:711 → 881
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      73784183..73817148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444260.1 → XP_047300216.1  uncharacterized protein C2orf78 isoform X1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791766.1 Reference GRCh38.p14 PATCHES

      Range
      453681..486646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333001.1 → XP_054188976.1  uncharacterized protein C2orf78 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      73797277..73825339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341960.1 → XP_054197935.1  uncharacterized protein C2orf78 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NCI8.3 GenPept UniProtKB/Swiss-Prot:A6NCI8

    Gene LinkOut

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