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] See more...

Aliases for ZCCHC12 Gene

Aliases for ZCCHC12 Gene

  • Zinc Finger CCHC-Type Containing 12 2 3 5
  • Zinc Finger CCHC Domain-Containing Protein 12 3 4
  • Paraneoplastic Ma Antigen Family Member 7A 2 3
  • Smad-Interacting Zinc Finger Protein 1 3 4
  • SIZN1 3 4
  • Zinc Finger, CCHC Domain Containing 12 3
  • PNMA7A 3
  • SIZN 3

External Ids for ZCCHC12 Gene

Previous GeneCards Identifiers for ZCCHC12 Gene

  • GC0XP117739
  • GC0XP117841
  • GC0XP117958
  • GC0XP107450

Summaries for ZCCHC12 Gene

Entrez Gene Summary for ZCCHC12 Gene

  • 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]

GeneCards Summary for ZCCHC12 Gene

ZCCHC12 (Zinc Finger CCHC-Type Containing 12) is a Protein Coding gene. Diseases associated with ZCCHC12 include Potocki-Lupski Syndrome. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nuclear receptor transcription coactivator activity. An important paralog of this gene is ZCCHC18.

UniProtKB/Swiss-Prot Summary for ZCCHC12 Gene

  • Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity).

Additional gene information for ZCCHC12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZCCHC12 Gene

Genomics for ZCCHC12 Gene

GeneHancer (GH) Regulatory Elements for ZCCHC12 Gene

Promoters and enhancers for ZCCHC12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ118823 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 505.3 +0.4 376 1.6 EP300 ZIC2 TCF7 RFX1 MYC NFYB ZNF341 OSR2 EZH2 MYNN ZCCHC12 lnc-KIAA1210-2 IL13RA1 LINC01285 RF00017-8640
GH0XJ118825 Promoter/Enhancer 0.7 EPDnew Ensembl 500.7 +1.6 1568 0.4 EZH2 NFIB ZCCHC12 LINC01285 RF00017-8640
GH0XJ118824 Enhancer 0.3 Ensembl 500.7 -0.7 -723 0.2 ZNF384 ZCCHC12 lnc-KIAA1210-2 RF00017-8640
GH0XJ119572 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13 +750.8 750767 3.2 FOXK2 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 HSALNG0139774 UBE2A lnc-UBE2A-1 CXorf56 ZCCHC12
GH0XJ118694 Enhancer 0.8 FANTOM5 Ensembl 16.9 -127.1 -127123 6.6 ZKSCAN1 SPI1 NFE2 MAFG PRDM6 PRDM10 ATF4 JUN FOS IKZF1 ZCCHC12 LONRF3 ENSG00000239182 IL13RA1 DOCK11 HSALNG0139725 piR-38756-047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZCCHC12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZCCHC12

Top Transcription factor binding sites by QIAGEN in the ZCCHC12 gene promoter:
  • c-Myb
  • GR
  • GR-alpha
  • GR-beta
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx2-2
  • POU2F1
  • POU2F1a

Genomic Locations for ZCCHC12 Gene

Genomic Locations for ZCCHC12 Gene
chrX:118,823,824-118,826,968
(GRCh38/hg38)
Size:
3,145 bases
Orientation:
Plus strand
chrX:117,957,753-117,960,931
(GRCh37/hg19)
Size:
3,179 bases
Orientation:
Plus strand

Genomic View for ZCCHC12 Gene

Genes around ZCCHC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZCCHC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZCCHC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZCCHC12 Gene

Proteins for ZCCHC12 Gene

  • Protein details for ZCCHC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PEW1-ZCH12_HUMAN
    Recommended name:
    Zinc finger CCHC domain-containing protein 12
    Protein Accession:
    Q6PEW1
    Secondary Accessions:
    • B3KV48
    • Q6PID5
    • Q8N1C1

    Protein attributes for ZCCHC12 Gene

    Size:
    402 amino acids
    Molecular mass:
    45369 Da
    Quaternary structure:
    • Interacts with SMAD1 and CREB-binding protein (CBP). Forms a protein-DNA complex through its association with SMAD1 (By similarity).

neXtProt entry for ZCCHC12 Gene

Post-translational modifications for ZCCHC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZCCHC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZCCHC12 Gene

Domains & Families for ZCCHC12 Gene

Gene Families for ZCCHC12 Gene

Protein Domains for ZCCHC12 Gene

Blocks:
  • C2HC-type zinc-finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZCCHC12 Gene

GenScript: Design optimal peptide antigens:
  • Smad-interacting zinc finger protein 1 (ZCH12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PEW1

UniProtKB/Swiss-Prot:

ZCH12_HUMAN :
  • Belongs to the ZCCHC12 family.
Family:
  • Belongs to the ZCCHC12 family.
genes like me logo Genes that share domains with ZCCHC12: view

Function for ZCCHC12 Gene

Molecular function for ZCCHC12 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity).

Phenotypes From GWAS Catalog for ZCCHC12 Gene

Gene Ontology (GO) - Molecular Function for ZCCHC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0030374 nuclear receptor transcription coactivator activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZCCHC12: view
genes like me logo Genes that share phenotypes with ZCCHC12: view

Animal Model Products

CRISPR Products

miRNA for ZCCHC12 Gene

miRTarBase miRNAs that target ZCCHC12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZCCHC12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZCCHC12 Gene

Localization for ZCCHC12 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZCCHC12 gene
Compartment Confidence
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZCCHC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016607 nuclear speck IBA 21873635
genes like me logo Genes that share ontologies with ZCCHC12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ZCCHC12 Gene

Pathways & Interactions for ZCCHC12 Gene

genes like me logo Genes that share pathways with ZCCHC12: view

Pathways by source for ZCCHC12 Gene

Gene Ontology (GO) - Biological Process for ZCCHC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030509 BMP signaling pathway IBA 21873635
GO:1903508 positive regulation of nucleic acid-templated transcription IEA --
genes like me logo Genes that share ontologies with ZCCHC12: view

No data available for SIGNOR curated interactions for ZCCHC12 Gene

Drugs & Compounds for ZCCHC12 Gene

No Compound Related Data Available

Transcripts for ZCCHC12 Gene

mRNA/cDNA for ZCCHC12 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZCCHC12

Alternative Splicing Database (ASD) splice patterns (SP) for ZCCHC12 Gene

No ASD Table

Relevant External Links for ZCCHC12 Gene

GeneLoc Exon Structure for
ZCCHC12

Expression for ZCCHC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZCCHC12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZCCHC12 Gene

This gene is overexpressed in Brain - Hypothalamus (x9.8), Fallopian Tube (x8.1), and Uterus (x5.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZCCHC12

SOURCE GeneReport for Unigene cluster for ZCCHC12 Gene:

Hs.21417

Evidence on tissue expression from TISSUES for ZCCHC12 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with ZCCHC12: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZCCHC12 Gene

Orthologs for ZCCHC12 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZCCHC12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZCCHC12 31 30
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZCCHC12 30
  • 85.88 (n)
-- 31
  • 84 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ZCCHC12 31 30
  • 85.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zcchc12 17 31 30
  • 81.83 (n)
Zcchc18 31
  • 70 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Zcchc12 30
  • 81.02 (n)
Species where no ortholog for ZCCHC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZCCHC12 Gene

ENSEMBL:
Gene Tree for ZCCHC12 (if available)
TreeFam:
Gene Tree for ZCCHC12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZCCHC12: view image

Paralogs for ZCCHC12 Gene

(2) SIMAP similar genes for ZCCHC12 Gene using alignment to 1 proteins:

  • ZCH12_HUMAN
genes like me logo Genes that share paralogs with ZCCHC12: view

Variants for ZCCHC12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZCCHC12 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
718699 Benign: not provided 118,825,263(+) C/T MISSENSE_VARIANT
783910 Benign: not provided 118,826,423(+) C/A SYNONYMOUS_VARIANT
rs483352935 Uncertain Significance: not provided 118,826,332(+) A/G MISSENSE_VARIANT
rs140976011 - p.Arg241Thr
rs17853670 - p.Arg214Gly

Additional dbSNP identifiers (rs#s) for ZCCHC12 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZCCHC12 Gene

Variant ID Type Subtype PubMed ID
dgv527n21 CNV gain 19592680

Variation tolerance for ZCCHC12 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZCCHC12 Gene

Human Gene Mutation Database (HGMD)
ZCCHC12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZCCHC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZCCHC12 Gene

Disorders for ZCCHC12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZCCHC12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
potocki-lupski syndrome
  • pls
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZCCHC12

genes like me logo Genes that share disorders with ZCCHC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZCCHC12 Gene

Publications for ZCCHC12 Gene

  1. ZCCHC12, a potential molecular marker of papillary thyroid carcinoma: a preliminary study. (PMID: 21739307) Li QL … Yang AK (Medical oncology (Northwood, London, England) 2012) 2 3 54
  2. Human ZCCHC12 activates AP-1 and CREB signaling as a transcriptional co-activator. (PMID: 19578717) Li H … Zhang J (Acta biochimica et biophysica Sinica 2009) 2 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for ZCCHC12 Gene

Sources for ZCCHC12 Gene