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

Gene ID: 54877, updated on 5-Mar-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
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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

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