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    C22orf31 chromosome 22 open reading frame 31 [ Homo sapiens (human) ]

    Gene ID: 25770, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C22orf31provided by HGNC
    Official Full Name
    chromosome 22 open reading frame 31provided by HGNC
    Primary source
    HGNC:HGNC:26931
    See related
    Ensembl:ENSG00000100249 AllianceGenome:HGNC:26931
    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
    HS747E2A; bK747E2.1
    Expression
    Biased expression in testis (RPKM 2.6), brain (RPKM 0.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See C22orf31 in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29058672..29073943, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29519948..29535171, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29454660..29469931, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985549 Neighboring gene Sharpr-MPRA regulatory region 13625 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:29275395-29275496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13582 Neighboring gene Sharpr-MPRA regulatory region 4838 Neighboring gene Sharpr-MPRA regulatory region 5766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29298674-29299487 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:29299851-29301050 Neighboring gene zinc and ring finger 3 Neighboring gene NANOG hESC enhancer GRCh37_chr22:29335494-29335995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29371305-29371805 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:29378648-29379847 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29384398-29385198 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:29396251-29396817 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29396818-29397383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29399041-29399852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29399853-29400662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29400663-29401473 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29406873-29407710 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63211 Neighboring gene ZNRF3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3696 Neighboring gene Sharpr-MPRA regulatory region 8961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29458189-29458956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13583 Neighboring gene kringle containing transmembrane protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:29524988-29525196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29536985-29537486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29537487-29537986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29541773-29542473 Neighboring gene RNA, U6 small nuclear 810, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29547849-29548632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18810 Neighboring gene uncharacterized LOC101929638 Neighboring gene RNA, U6 small nuclear 1219, 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 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. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. Collins JE, et al. Genome Res, 2003 Jan. PMID 12529303, Free PMC Article
    2. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
    3. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    4. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    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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    Markers

    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C22orf31

    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_001386866.1 → NP_001373795.1  uncharacterized protein C22orf31 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL021393
      Conserved Domains (1) summary
      pfam15578
      Location:1 → 221
      DUF4662; Domain of unknown function (DUF4662)

    2. NM_015370.2 → NP_056185.1  uncharacterized protein C22orf31 isoform 1

      See identical proteins and their annotated locations for NP_056185.1

      Status: VALIDATED

      Source sequence(s)
      AL021393
      Consensus CDS
      CCDS13848.1
      UniProtKB/Swiss-Prot
      A0AV97, O95567
      Related
      ENSP00000216071.4, ENST00000216071.5
      Conserved Domains (1) summary
      pfam15578
      Location:2 → 262
      DUF4662; Domain of unknown function (DUF4662)

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29058672..29073943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028741.2 → XP_016884230.1  uncharacterized protein C22orf31 isoform X1

      Conserved Domains (1) summary
      pfam15578
      Location:1 → 221
      DUF4662; Domain of unknown function (DUF4662)

    2. XM_005261491.3 → XP_005261548.1  uncharacterized protein C22orf31 isoform X2

      Conserved Domains (1) summary
      pfam15578
      Location:40 → 158
      DUF4662; Domain of unknown function (DUF4662)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29519948..29535171 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325463.1 → XP_054181438.1  uncharacterized protein C22orf31 isoform X1

    2. XM_054325464.1 → XP_054181439.1  uncharacterized protein C22orf31 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95567.1 GenPept UniProtKB/Swiss-Prot:O95567

    Gene LinkOut

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