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    C2orf80 chromosome 2 open reading frame 80 [ Homo sapiens (human) ]

    Gene ID: 389073, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C2orf80provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 80provided by HGNC
    Primary source
    HGNC:HGNC:34352
    See related
    Ensembl:ENSG00000188674 MIM:615536; AllianceGenome:HGNC:34352
    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
    GONDA1
    Expression
    Restricted expression toward brain (RPKM 8.9) See more
    Orthologs
    mouse all
    NEW
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    Try the new Transcript table

    Genomic context

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    See C2orf80 in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (208165347..208190030, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208645334..208670364, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (209030071..209054754, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507443 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:209007684-209008466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:209010074-209010697 Neighboring gene crystallin gamma B Neighboring gene crystallin gamma A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:209063532-209064208 Neighboring gene ribosomal protein SA pseudogene 27 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:209080668-209081230 Neighboring gene TPT1 pseudogene 2

    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. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. Norling A, et al. Eur J Med Genet, 2013 Dec. PMID 24055526
    2. Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion. Hill MJ, et al. Hum Mol Genet, 2012 Mar 1. PMID 22080834
    3. Identification of novel radiation-induced p53-dependent transcripts extensively regulated during mouse brain development. Quintens R, et al. Biol Open, 2015 Feb 13. PMID 25681390, Free PMC Article
    4. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Xu J, et al. Proc Natl Acad Sci U S A, 2010 Feb 2. PMID 20080650, Free PMC Article
    5. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C2orf80
    Names
    gonad development associated 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001099334.3 → NP_001092804.2  uncharacterized protein C2orf80

      Status: VALIDATED

      Source sequence(s)
      AC016697
      Consensus CDS
      CCDS42809.1
      UniProtKB/Swiss-Prot
      A6NKZ3, Q0P641
      Related
      ENSP00000343171.4, ENST00000341287.9

    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
      208165347..208190030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004074.2 → XP_016859563.1  uncharacterized protein C2orf80 isoform X2

    2. XM_017004076.2 → XP_016859565.1  uncharacterized protein C2orf80 isoform X4

      UniProtKB/Swiss-Prot
      A6NKZ3, Q0P641

    3. XM_047444270.1 → XP_047300226.1  uncharacterized protein C2orf80 isoform X5

    4. XM_047444267.1 → XP_047300223.1  uncharacterized protein C2orf80 isoform X1

    5. XM_047444268.1 → XP_047300224.1  uncharacterized protein C2orf80 isoform X3

      Related
      ENSP00000405393.1, ENST00000451346.5

    6. XM_047444271.1 → XP_047300227.1  uncharacterized protein C2orf80 isoform X6

    7. XM_047444272.1 → XP_047300228.1  uncharacterized protein C2orf80 isoform X7

      Related
      ENSP00000389385.1, ENST00000451342.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      208645334..208670364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341978.1 → XP_054197953.1  uncharacterized protein C2orf80 isoform X5

    2. XM_054341973.1 → XP_054197948.1  uncharacterized protein C2orf80 isoform X1

    3. XM_054341975.1 → XP_054197950.1  uncharacterized protein C2orf80 isoform X3

    4. XM_054341974.1 → XP_054197949.1  uncharacterized protein C2orf80 isoform X2

    5. XM_054341977.1 → XP_054197952.1  uncharacterized protein C2orf80 isoform X4

    6. XM_054341979.1 → XP_054197954.1  uncharacterized protein C2orf80 isoform X6

    7. XM_054341976.1 → XP_054197951.1  uncharacterized protein C2orf80 isoform X4

    8. XM_054341980.1 → XP_054197955.1  uncharacterized protein C2orf80 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0P641.2 GenPept UniProtKB/Swiss-Prot:Q0P641

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