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

    Gene ID: 257407, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB. Bruening J, et al. PLoS Pathog, 2018 Jul. PMID 30024968, Free PMC Article
    2. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Kovalski JR, et al. Mol Cell, 2019 Feb 21. PMID 30639242, Free PMC Article

    See all (11) 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

    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

    General protein information

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    Preferred Names
    uncharacterized protein C2orf72

    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_001144994.2 → NP_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:139 → 293
      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_047443876.1 → XP_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_054341294.1 → XP_054197269.1  uncharacterized protein C2orf72 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NCS6.2 GenPept UniProtKB/Swiss-Prot:A6NCS6

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