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    C2orf72 chromosome 2 open reading frame 72 [ Homo sapiens (human) ]

    Gene ID: 257407, updated on 17-Sep-2024

    Summary

    Official Symbol
    C2orf72provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 72provided by HGNC
    Primary source
    HGNC:HGNC:27418
    See related
    Ensembl:ENSG00000204128 AllianceGenome:HGNC:27418
    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
    Expression
    Biased expression in liver (RPKM 23.3), brain (RPKM 16.7) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C2orf72 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231037523..231049719)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (231522030..231534225)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231902238..231914434)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:231850196-231850380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:231851885-231852384 Neighboring gene SPATA3 antisense RNA 1 (head to head) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:231860347-231860880 Neighboring gene spermatogenesis associated 3 Neighboring gene uncharacterized LOC112268432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12423 Neighboring gene proteasome 26S subunit, non-ATPase 1 Neighboring gene 5-hydroxytryptamine receptor 2B Neighboring gene RNA, U1 small nuclear 93, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    uncharacterized protein C2orf72

    NCBI Reference Sequences (RefSeq)

    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_001144994.2NP_001138466.1  uncharacterized protein C2orf72

      See identical proteins and their annotated locations for NP_001138466.1

      Status: VALIDATED

      Source sequence(s)
      AC009407, AF007149, AF070612, AV658788, DA141613, DB303203
      Consensus CDS
      CCDS46539.1
      UniProtKB/Swiss-Prot
      A6NCS6
      Related
      ENSP00000362743.4, ENST00000373640.5
      Conserved Domains (1) summary
      pfam15443
      Location:139293
      DUF4630; Domain of unknown function (DUF4630)

    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
      231037523..231049719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443876.1XP_047299832.1  uncharacterized protein C2orf72 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      231522030..231534225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341294.1XP_054197269.1  uncharacterized protein C2orf72 isoform X1