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    C2orf68 chromosome 2 open reading frame 68 [ Homo sapiens (human) ]

    Gene ID: 388969, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C2orf68provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 68provided by HGNC
    Primary source
    HGNC:HGNC:34353
    See related
    Ensembl:ENSG00000168887 MIM:618519; AllianceGenome:HGNC:34353
    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
    HCRCN81
    Expression
    Ubiquitous expression in ovary (RPKM 7.0), endometrium (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C2orf68 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85605254..85612066, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85607314..85614126, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85832377..85839189, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11706 Neighboring gene ring finger protein 181 Neighboring gene transmembrane protein 150A Neighboring gene ubiquitin specific peptidase 39 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:85838960-85839341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16134 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:85839517-85839689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16136 Neighboring gene surfactant protein B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16138 Neighboring gene uncharacterized LOC105374842

    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. hcrcn81 promotes cell proliferation through Wnt signaling pathway in colorectal cancer. Chen Y, et al. Med Oncol, 2016 Jan. PMID 26607374
    2. NM_001013649.3 gene is down-regulated in human colorectal adenocarcinoma. Jiang Q, et al. Mol Med Rep, 2011 Nov-Dec. PMID 21874238
    3. The role of c2orf68 and PI3K/Akt/mTOR pathway in human colorectal cancer. Wen X, et al. Med Oncol, 2014 Aug. PMID 25023051
    4. Hcrcn81 is upregulated by rapamycin treatment in human colorectal adenocarcinoma cells. Wen X, et al. Mol Med Rep, 2013 Apr. PMID 23404111
    5. Interaction between C2ORF68 and HuR in human colorectal cancer. Lv Z, et al. Oncol Rep, 2019 Mar. PMID 30664176

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study suggested that c2orf68 is a potential carcinogenesis factor in colorectal cancer (CRC). Furthermore, c2orf68 may have a synergistic effect with HuR in the onset and development of CRC.
      Title: Interaction between C2ORF68 and HuR in human colorectal cancer.
    2. hcrcn81 might promote carcinogenesis and progression through regulation of the Wnt/beta-catenin signaling pathway and plays an important role in the carcinogenesis of colorectal cancer.
      Title: hcrcn81 promotes cell proliferation through Wnt signaling pathway in colorectal cancer.
    3. c2orf68 expression correlates with the pathogenesis of colorectal cancer through PI3K/Akt/mTOR pathway.
      Title: The role of c2orf68 and PI3K/Akt/mTOR pathway in human colorectal cancer.
    4. Observations of the current study indicate that hcrcn81 may play a role in tumorigenesis by regulating the mTOR signaling pathway.
      Title: Hcrcn81 is upregulated by rapamycin treatment in human colorectal adenocarcinoma cells.
    5. The mRNA levels of NM_001013649.3 are significantly down-regulated in colorectal adenocarcinoma tissue, and this down-regulation is most likely correlated with the differentiation status of the cancer.
      Title: NM_001013649.3 gene is down-regulated in human colorectal adenocarcinoma.
    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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    Markers

    Homology

    Clone Names

    • FLJ14112, FLJ35653, MGC131675

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    UPF0561 protein C2orf68

    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_001013649.4 → NP_001013671.2  UPF0561 protein C2orf68

      See identical proteins and their annotated locations for NP_001013671.2

      Status: VALIDATED

      Source sequence(s)
      AC012454, AC016753, BC111483, BU619982, CN303296
      Consensus CDS
      CCDS42704.1
      UniProtKB/Swiss-Prot
      B4DT10, Q2NKX9, Q4G0J7, Q6ZVA6
      UniProtKB/TrEMBL
      L7T9J5
      Related
      ENSP00000304410.5, ENST00000306336.6
      Conserved Domains (1) summary
      pfam10573
      Location:5 → 126
      UPF0561; Uncharacterized protein family UPF0561

    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
      85605254..85612066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264305.5 → XP_005264362.1  UPF0561 protein C2orf68 isoform X1

      See identical proteins and their annotated locations for XP_005264362.1

      Conserved Domains (1) summary
      pfam10573
      Location:5 → 79
      UPF0561; Uncharacterized protein family UPF0561

    2. XM_024452879.2 → XP_024308647.1  UPF0561 protein C2orf68 isoform X1

      Conserved Domains (1) summary
      pfam10573
      Location:5 → 79
      UPF0561; Uncharacterized protein family UPF0561

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      85607314..85614126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341962.1 → XP_054197937.1  UPF0561 protein C2orf68 isoform X1

    2. XM_054341961.1 → XP_054197936.1  UPF0561 protein C2orf68 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2NKX9.1 GenPept UniProtKB/Swiss-Prot:Q2NKX9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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