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    ZCCHC18 zinc finger CCHC-type containing 18 [ Homo sapiens (human) ]

    Gene ID: 644353, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZCCHC18provided by HGNC
    Official Full Name
    zinc finger CCHC-type containing 18provided by HGNC
    Primary source
    HGNC:HGNC:32459
    See related
    Ensembl:ENSG00000166707 MIM:301122; AllianceGenome:HGNC:32459
    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
    SIZN2; PNMA7B
    Summary
    Predicted to enable metal ion binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 1.7), brain (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZCCHC18 in Genome Data Viewer
    Location:
    Xq22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104112523..104115842)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102543724..102547043)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103357214..103360533)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene thymosin beta 15C Neighboring gene DPPA3 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103349345-103349844 Neighboring gene solute carrier family 25 member 53 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20923 Neighboring gene uncharacterized LOC286437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29826 Neighboring gene family with sequence similarity 199, X-linked Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103410976-103411476

    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. Identification of proteins that interact with murine cytomegalovirus early protein M112-113 in brain. Wang H, et al. Chin Med J (Engl), 2011 Nov. PMID 22340173
    2. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article

    See all (9) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger CCHC domain-containing protein 18
    Names
    paraneoplastic Ma antigen family member 7B
    putative zinc finger CCHC domain-containing protein 18
    zinc finger, CCHC domain containing 12 pseudogene 1

    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_001143978.3 → NP_001137450.1  zinc finger CCHC domain-containing protein 18

      See identical proteins and their annotated locations for NP_001137450.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AC234783, AI656548, DA781887, DA790216, DA808943
      Consensus CDS
      CCDS65304.1
      UniProtKB/Swiss-Prot
      P0CG32
      Related
      ENSP00000498828.1, ENST00000650639.1
      Conserved Domains (1) summary
      pfam14893
      Location:1 → 212
      PNMA; PNMA

    RNA

    1. NR_026694.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal segment, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC234783, AI656548, CN272796, DA808943
      Related
      ENST00000422784.5

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      104112523..104115842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531012.4 → XP_011529314.1  zinc finger CCHC domain-containing protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011529314.1

      UniProtKB/Swiss-Prot
      P0CG32
      Conserved Domains (1) summary
      pfam14893
      Location:1 → 212
      PNMA; PNMA

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      102543724..102547043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327572.1 → XP_054183547.1  zinc finger CCHC domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P0CG32
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG32.1 GenPept UniProtKB/Swiss-Prot:P0CG32

    Gene LinkOut

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

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