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    C22orf23 chromosome 22 open reading frame 23 [ Homo sapiens (human) ]

    Gene ID: 84645, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C22orf23provided by HGNC
    Official Full Name
    chromosome 22 open reading frame 23provided by HGNC
    Primary source
    HGNC:HGNC:18589
    See related
    Ensembl:ENSG00000128346 MIM:619678; AllianceGenome:HGNC:18589
    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
    EVG1; dJ1039K5.6
    Expression
    Broad expression in testis (RPKM 34.3), skin (RPKM 7.9) and 15 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See C22orf23 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37943050..37953669, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38404677..38415276, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38339057..38349676, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38290604-38291248 Neighboring gene RNA, U6 small nuclear 900, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38294770-38295536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38300995-38301810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38301811-38302626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38302627-38303442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38303443-38304256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38306246-38307039 Neighboring gene MICAL like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38313076-38313576 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:38313949-38314111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38314373-38314874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38314875-38315374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38329039-38329841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38329842-38330643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13705 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38360913-38361412 Neighboring gene RNA polymerase II, I and III subunit F Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38363646-38364146 Neighboring gene Sharpr-MPRA regulatory region 10540 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:38367753-38368266 Neighboring gene MPRA-validated peak4487 silencer Neighboring gene microRNA 6820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38378831-38379668 Neighboring gene SRY-box transcription factor 10

    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. Experimental annotation of the human genome using microarray technology. Shoemaker DD, et al. Nature, 2001 Feb 15. PMID 11237012
    2. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (13) 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

    Clone Names

    • FLJ32787

    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
    UPF0193 protein EVG1

    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_001207062.1 → NP_001193991.1  UPF0193 protein EVG1 isoform 2

      See identical proteins and their annotated locations for NP_001193991.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR and an in-frame exon in the 5' CDS, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AF324466, BC031998, BI827388, BP368870, DA968042
      Consensus CDS
      CCDS74860.1
      UniProtKB/TrEMBL
      A0A087X0J6
      Related
      ENSP00000483445.1, ENST00000619227.4
      Conserved Domains (1) summary
      pfam05250
      Location:6 → 191
      UPF0193; uncharacterized protein family (UPF0193)

    2. NM_032561.5 → NP_115950.3  UPF0193 protein EVG1 isoform 1

      See identical proteins and their annotated locations for NP_115950.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF324466, BC031998, BI463610, BP368870, DA968042
      Consensus CDS
      CCDS13962.1
      UniProtKB/Swiss-Prot
      Q5JYU9, Q96M68, Q9BZE7
      Related
      ENSP00000384667.1, ENST00000403305.6
      Conserved Domains (1) summary
      pfam05250
      Location:6 → 212
      UPF0193; Uncharacterized protein family (UPF0193)

    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
      37943050..37953669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441550.1 → XP_047297506.1  UPF0193 protein EVG1 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYU9, Q96M68, Q9BZE7
      Related
      ENSP00000384618.1, ENST00000403026.5

    2. XM_005261784.4 → XP_005261841.1  UPF0193 protein EVG1 isoform X4

      See identical proteins and their annotated locations for XP_005261841.1

      UniProtKB/TrEMBL
      A0A087X0J6
      Conserved Domains (1) summary
      pfam05250
      Location:6 → 191
      UPF0193; uncharacterized protein family (UPF0193)

    3. XM_005261782.4 → XP_005261839.1  UPF0193 protein EVG1 isoform X1

      See identical proteins and their annotated locations for XP_005261839.1

      Conserved Domains (1) summary
      pfam05250
      Location:6 → 194
      UPF0193; uncharacterized protein family (UPF0193)

    4. XM_005261783.3 → XP_005261840.1  UPF0193 protein EVG1 isoform X3

      Conserved Domains (1) summary
      pfam05250
      Location:6 → 173
      UPF0193; uncharacterized protein family (UPF0193)

    5. XM_005261781.2 → XP_005261838.1  UPF0193 protein EVG1 isoform X1

      See identical proteins and their annotated locations for XP_005261838.1

      Conserved Domains (1) summary
      pfam05250
      Location:6 → 194
      UPF0193; uncharacterized protein family (UPF0193)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38404677..38415276 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326034.1 → XP_054182009.1  UPF0193 protein EVG1 isoform X2

      UniProtKB/Swiss-Prot
      Q5JYU9, Q96M68, Q9BZE7

    2. XM_054326036.1 → XP_054182011.1  UPF0193 protein EVG1 isoform X4

      UniProtKB/TrEMBL
      A0A087X0J6

    3. XM_054326033.1 → XP_054182008.1  UPF0193 protein EVG1 isoform X1

    4. XM_054326035.1 → XP_054182010.1  UPF0193 protein EVG1 isoform X3

    5. XM_054326032.1 → XP_054182007.1  UPF0193 protein EVG1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZE7.1 GenPept UniProtKB/Swiss-Prot:Q9BZE7

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