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    ZCCHC12 zinc finger CCHC-type containing 12 [ Homo sapiens (human) ]

    Gene ID: 170261, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZCCHC12provided by HGNC
    Official Full Name
    zinc finger CCHC-type containing 12provided by HGNC
    Primary source
    HGNC:HGNC:27273
    See related
    Ensembl:ENSG00000174460 MIM:300701; AllianceGenome:HGNC:27273
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIZN; SIZN1; PNMA7A
    Summary
    This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
    Expression
    Biased expression in endometrium (RPKM 50.3), brain (RPKM 9.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ZCCHC12 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (118823824..118826968)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117201557..117204701)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117957787..117960931)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA35 Neighboring gene interleukin 13 receptor subunit alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:117904251-117904750 Neighboring gene TMEM30B pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20951 Neighboring gene long intergenic non-protein coding RNA 1285 Neighboring gene AKR7A2P pseudogene 1 Neighboring gene COBL pseudogene 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. Evidence that SIZN1 is a candidate X-linked mental retardation gene. Cho G, et al. Am J Med Genet A, 2008 Oct 15. PMID 18798319, Free PMC Article
    2. ZCCHC12, a novel oncogene in papillary thyroid cancer. Wang O, et al. J Cancer Res Clin Oncol, 2017 Sep. PMID 28424903
    3. ZCCHC12, a potential molecular marker of papillary thyroid carcinoma: a preliminary study. Li QL, et al. Med Oncol, 2012 Sep. PMID 21739307
    4. Human ZCCHC12 activates AP-1 and CREB signaling as a transcriptional co-activator. Li H, et al. Acta Biochim Biophys Sin (Shanghai), 2009 Jul. PMID 19578717
    5. Sizn1 is a novel protein that functions as a transcriptional coactivator of bone morphogenic protein signaling. Cho G, et al. Mol Cell Biol, 2008 Mar. PMID 18160706, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our study indicated that ZCCHC12 gene has important biological functions and acts as a metastasis-related oncogene in papillary thyroid cancer
      Title: ZCCHC12, a novel oncogene in papillary thyroid cancer.
    2. The ZCCHC12 gene may be a novel diagnostic molecular marker of primary papillary thyroid carcinoma
      Title: ZCCHC12, a potential molecular marker of papillary thyroid carcinoma: a preliminary study.
    3. ZCCHC12 enhanced the transcriptional activities of activator protein 1 (AP-1) and cAMP response element binding protein (CREB) as a coactivator
      Title: Human ZCCHC12 activates AP-1 and CREB signaling as a transcriptional co-activator.
    4. Data indicate that the SIMs in Sizn1 are required for its PML-NB localization and for the full transcriptional co-activation function in BMP signaling.
      Title: SUMO interaction motifs in Sizn1 are required for promyelocytic leukemia protein nuclear body localization and for transcriptional activation.
    5. data implicate SIZN1 as a candidate gene for X-linked mental retardation and/or as a neurocognitive functional modifier
      Title: Evidence that SIZN1 is a candidate X-linked mental retardation gene.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc 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 12
    Names
    paraneoplastic Ma antigen family member 7A
    smad-interacting zinc finger protein 1
    zinc finger, CCHC domain containing 12

    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.

    Genomic

    1. NG_042836.1 RefSeqGene

      Range
      5082..8226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001312891.2 → NP_001299820.1  zinc finger CCHC domain-containing protein 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK122676, AW002115, DA075574, HY006302
      Consensus CDS
      CCDS14574.1
      UniProtKB/Swiss-Prot
      B3KV48, Q6PEW1, Q6PID5, Q8N1C1
      Conserved Domains (1) summary
      pfam14893
      Location:9 → 212
      PNMA; PNMA

    2. NM_173798.4 → NP_776159.1  zinc finger CCHC domain-containing protein 12

      See identical proteins and their annotated locations for NP_776159.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK122676, AW002115
      Consensus CDS
      CCDS14574.1
      UniProtKB/Swiss-Prot
      B3KV48, Q6PEW1, Q6PID5, Q8N1C1
      Related
      ENSP00000308921.2, ENST00000310164.3
      Conserved Domains (1) summary
      pfam14893
      Location:9 → 212
      PNMA; PNMA

    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
      118823824..118826968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      117201557..117204701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PEW1.2 GenPept UniProtKB/Swiss-Prot:Q6PEW1

    Gene LinkOut

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

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