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    C2orf15 chromosome 2 open reading frame 15 [ Homo sapiens (human) ]

    Gene ID: 150590, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C2orf15provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 15provided by HGNC
    Primary source
    HGNC:HGNC:28436
    See related
    Ensembl:ENSG00000273045 AllianceGenome:HGNC:28436
    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
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 3.3), kidney (RPKM 2.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    2q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (99141707..99151669)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (99600577..99610540)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99758170..99768132)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRACD like Neighboring gene RNA, U7 small nuclear 46 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99485973-99486580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99526123-99526622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99529037-99529620 Neighboring gene Sharpr-MPRA regulatory region 6151 Neighboring gene MPRA-validated peak3796 silencer Neighboring gene testis specific 10 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:99656987-99658186 Neighboring gene NANOG hESC enhancer GRCh37_chr2:99698262-99699020 Neighboring gene SMC3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99758101-99758907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99771037-99771658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16280 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99797856-99798028 Neighboring gene lipoyltransferase 1 Neighboring gene microtubule interacting and trafficking domain containing 1 Neighboring gene mitochondrial ribosomal protein L30

    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. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Nat Genet, 2011 Sep 18. PMID 21926972, Free PMC Article
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    3. The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. Baltz AG, et al. Mol Cell, 2012 Jun 8. PMID 22681889
    4. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (9) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    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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    Potential readthrough

    Included gene: MRPL30

    Homology

    Clone Names

    • FLJ44438, MGC29762

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    uncharacterized protein C2orf15

    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_001317992.2 → NP_001304921.2  uncharacterized protein C2orf15

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC092587
      Consensus CDS
      CCDS2038.2
      UniProtKB/Swiss-Prot
      Q8WU43
      UniProtKB/TrEMBL
      A0A3F2YNW3
      Related
      ENSP00000386654.2, ENST00000409684.2
      Conserved Domains (1) summary
      pfam17701
      Location:1 → 91
      DUF5547; Family of unknown function (DUF5547)

    2. NM_144706.4 → NP_653307.2  uncharacterized protein C2orf15

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC092587, BC021264
      Consensus CDS
      CCDS2038.2
      UniProtKB/Swiss-Prot
      Q8WU43
      UniProtKB/TrEMBL
      A0A3F2YNW3
      Related
      ENSP00000497775.2, ENST00000650052.2
      Conserved Domains (1) summary
      pfam17701
      Location:1 → 91
      DUF5547; Family of unknown function (DUF5547)

    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
      99141707..99151669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      99600577..99610540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WU43.2 GenPept UniProtKB/Swiss-Prot:Q8WU43

    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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