U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 170261, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
Xq24
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (118823824..118826968)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117201557..117204701)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. ZCCHC12, a novel oncogene in papillary thyroid cancer. Wang O, et al. J Cancer Res Clin Oncol, 2017 Sep. PMID 28424903
  2. ZCCHC12, a potential molecular marker of papillary thyroid carcinoma: a preliminary study. Li QL, et al. Med Oncol, 2012 Sep. PMID 21739307
  3. 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
  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 (26) 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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous