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    ZCCHC2 zinc finger CCHC-type containing 2 [ Homo sapiens (human) ]

    Gene ID: 54877, updated on 5-May-2024

    Summary

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    Official Symbol
    ZCCHC2provided by HGNC
    Official Full Name
    zinc finger CCHC-type containing 2provided by HGNC
    Primary source
    HGNC:HGNC:22916
    See related
    Ensembl:ENSG00000141664 MIM:620095; AllianceGenome:HGNC:22916
    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
    C18orf49
    Summary
    Predicted to enable nucleic acid binding activity; phosphatidylinositol binding activity; and zinc ion binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 5.7), salivary gland (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q21.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (62523025..62586729)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (62725900..62789604)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (60190258..60253962)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9507 Neighboring gene ribosomal protein L17 pseudogene 44 Neighboring gene ACTB pseudogene 9 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13431 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60190967-60191540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13432 Neighboring gene Sharpr-MPRA regulatory region 3490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:60278845-60279519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13434 Neighboring gene RNA, 7SL, cytoplasmic 705, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:60383195-60384157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9520 Neighboring gene RNA, U6 small nuclear 142, pseudogene Neighboring gene PH domain and leucine rich repeat protein phosphatase 1

    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 zinc-finger protein ZCCHC2 suppresses retinoblastoma tumorigenesis by inhibiting HectH9-mediated K63-linked polyubiquitination and activation of c-Myc. Dai H, et al. Biochem Biophys Res Commun, 2020 Jan 8. PMID 31677785
    2. A transcriptional sketch of a primary human breast cancer by 454 deep sequencing. Guffanti A, et al. BMC Genomics, 2009 Apr 20. PMID 19379481, Free PMC Article
    3. Discovery and fine mapping of serum protein loci through transethnic meta-analysis. Franceschini N, et al. Am J Hum Genet, 2012 Oct 5. PMID 23022100, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    5. Distinct nuclear and cytoplasmic assemblies and interactomes of the mammalian CTLH E3 ligase complex. Onea G, et al. J Cell Sci, 2022 Jul 15. PMID 35833506

    See all (23) 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

    EBI GWAS Catalog

    Description
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    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

    Clone Names

    • FLJ20222, FLJ20281, KIAA1744, MGC13269, DKFZp451A185

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger CCHC domain-containing protein 2
    Names
    zinc finger, CCHC domain containing 2

    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_017742.6 → NP_060212.4  zinc finger CCHC domain-containing protein 2

      See identical proteins and their annotated locations for NP_060212.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AA903206, AB051531, AC064801, AK000288, BC006340, BQ001246, BU675299, DN997998, FN169762
      Consensus CDS
      CCDS45880.1
      UniProtKB/Swiss-Prot
      B2RPG6, Q8N3S1, Q9C0B9, Q9NXF6
      UniProtKB/TrEMBL
      K7ESN2
      Related
      ENSP00000269499.4, ENST00000269499.10
      Conserved Domains (2) summary
      pfam00098
      Location:1133 → 1148
      zf-CCHC; Zinc knuckle
      cl02563
      Location:363 → 461
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    RNA

    1. NR_126534.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA406111, AC064801, AL832323, BC137435, DN997998

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      62523025..62586729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      62725900..62789604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0B9.6 GenPept UniProtKB/Swiss-Prot:Q9C0B9

    Gene LinkOut

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

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