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    C2orf66 chromosome 2 open reading frame 66 [ Homo sapiens (human) ]

    Gene ID: 401027, updated on 17-Jun-2024

    Summary

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    Official Symbol
    C2orf66provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 66provided by HGNC
    Primary source
    HGNC:HGNC:33809
    See related
    Ensembl:ENSG00000187944 AllianceGenome:HGNC:33809
    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
    UNQ6411; IIDS6411
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See C2orf66 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (196804417..196832139, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197288090..197315820, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (197669141..197674079, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 150 Neighboring gene uncharacterized LOC100130452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16914 Neighboring gene general transcription factor IIIC subunit 3 Neighboring gene post-GPI attachment to proteins inositol deacylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12207 Neighboring gene ankyrin repeat domain 44 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 15

    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. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C2orf66

    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_213608.3 → NP_998773.2  uncharacterized protein C2orf66 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012486, AW768745, AY358249
      Consensus CDS
      CCDS2317.2
      UniProtKB/Swiss-Prot
      B2RNW3, Q6UXQ4
      UniProtKB/TrEMBL
      A0A5K1VW65
      Related
      ENSP00000339384.3, ENST00000342506.4
      Conserved Domains (1) summary
      pfam15846
      Location:17 → 98
      DUF4720; Domain of unknown function (DUF4720)

    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
      196804417..196832139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444338.1 → XP_047300294.1  uncharacterized protein C2orf66 isoform X2

      UniProtKB/Swiss-Prot
      B2RNW3, Q6UXQ4
      UniProtKB/TrEMBL
      A0A5K1VW65

    2. XM_047444337.1 → XP_047300293.1  uncharacterized protein C2orf66 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      197288090..197315820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342041.1 → XP_054198016.1  uncharacterized protein C2orf66 isoform X2

      UniProtKB/Swiss-Prot
      B2RNW3, Q6UXQ4
      UniProtKB/TrEMBL
      A0A5K1VW65

    2. XM_054342040.1 → XP_054198015.1  uncharacterized protein C2orf66 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXQ4.1 GenPept UniProtKB/Swiss-Prot:Q6UXQ4

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