Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ZCCHC12 Gene

Aliases for ZCCHC12 Gene

  • Zinc Finger CCHC-Type Containing 12 2 3 5
  • Paraneoplastic Ma Antigen Family Member 7A 2 3
  • Smad-Interacting Zinc Finger Protein 1 3 4
  • SIZN1 3 4
  • Zinc Finger CCHC Domain-Containing Protein 12 3
  • 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 mental retardation. 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. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription. GO annotations related to this gene include nucleic acid binding and ligand-dependent nuclear receptor transcription coactivator activity. An important paralog of this gene is ZCCHC18.

UniProtKB/Swiss-Prot 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZCCHC12 Gene

Genomics for ZCCHC12 Gene

Regulatory Elements for ZCCHC12 Gene

Enhancers for ZCCHC12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF119466 1.1 ENCODE 9.8 +645.4 645419 4.6 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 NFYC REST SLC25A43 UPF3B CXorf56 ENSG00000237903 RNU1-67P RHOXF1 NKAPP1 NKRF LINC01402 ZCCHC12
GH0XF118773 0.8 ENCODE 12.5 -49.9 -49870 1.5 PKNOX1 ZFP64 ZNF140 ZNF266 ZNF101 ZNF664 CTBP1 FOS ZNF433 ZNF202 ENSG00000239182 ZCCHC12 KIAA1210 IL13RA1 ENSG00000250995
GH0XF118723 1.4 FANTOM5 ENCODE 5.1 -96.3 -96316 7.9 PKNOX1 ARID4B SIN3A YY1 FOS KLF13 SP3 SP5 SMARCB1 KAT8 IL13RA1 LONRF3 DOCK11 ZCCHC12 ENSG00000239182
GH0XF118604 0.7 ENCODE 9.9 -219.7 -219688 0.2 CTCF ZNF654 ZNF280D ZNF680 L3MBTL2 CEBPB TRIM22 ZNF644 RAD21 ZKSCAN1 DOCK11 ZCCHC12 ENSG00000206862 GC0XM118570 GC0XM118634
GH0XF118751 1.2 FANTOM5 Ensembl ENCODE 4.2 -71.2 -71243 2.1 CTCF PKNOX1 MTA2 MAFG EBF1 TBX21 GABPA NR2F2 TARDBP EED ZCCHC12 LONRF3 ENSG00000239182 LOC101928242
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZCCHC12 on UCSC Golden Path with GeneCards custom track

Promoters for ZCCHC12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001918559 110 601 PKNOX1 GLIS2 EGR1 CREM EGR2 SP3 NFYC ZNF610 SMARCA4 ZNF341

Genomic Location for ZCCHC12 Gene

Chromosome:
X
Start:
118,823,790 bp from pter
End:
118,826,968 bp from pter
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

Suggested Antigen Peptide Sequences for ZCCHC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PEW1

UniProtKB/Swiss-Prot:

ZCH12_HUMAN :
  • Belongs to the ZCCHC12 family.
  • Contains 1 CCHC-type zinc finger.
Family:
  • Belongs to the ZCCHC12 family.
Similarity:
  • Contains 1 CCHC-type zinc finger.
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).

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 ligand-dependent nuclear receptor transcription coactivator activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZCCHC12: view

Phenotypes for ZCCHC12 Gene

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

Animal Model Products

miRNA for ZCCHC12 Gene

miRTarBase miRNAs that target ZCCHC12

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
cytosol 2

Gene Ontology (GO) - Cellular Components for ZCCHC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016607 nuclear speck IBA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0030509 BMP signaling pathway IBA --
genes like me logo Genes that share ontologies with ZCCHC12: view

No data available for SIGNOR curated interactions for ZCCHC12 Gene

Transcripts for ZCCHC12 Gene

mRNA/cDNA for ZCCHC12 Gene

Unigene Clusters for ZCCHC12 Gene

Zinc finger, CCHC domain containing 12:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ZCCHC12 Gene

GeneLoc Exon Structure for
ZCCHC12
ECgene alternative splicing isoforms 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).

NURSA nuclear receptor signaling pathways regulating expression of ZCCHC12 Gene:

ZCCHC12

SOURCE GeneReport for Unigene cluster for ZCCHC12 Gene:

Hs.21417
genes like me logo Genes that share expression patterns with ZCCHC12: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia ZCCHC12 34
  • 85.88 (n)
-- 35
  • 84 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ZCCHC12 34 35
  • 85.38 (n)
mouse
(Mus musculus)
Mammalia Zcchc12 34 16 35
  • 81.83 (n)
Zcchc18 35
  • 70 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Zcchc12 34
  • 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)

Paralogs for ZCCHC12 Gene

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

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

Variants for ZCCHC12 Gene

Sequence variations from dbSNP and Humsavar for ZCCHC12 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs483352935 Uncertain significance 118,826,332(+) CAACG(A/G)GAGTG reference, missense
rs111960514 -- 118,822,570(+) CACCT(A/G)CAAAG upstream-variant-2KB
rs112215418 -- 118,827,021(+) AATAT(A/G)GTAAA downstream-variant-500B
rs112270850 -- 118,827,002(+) ATTTT(-/T)AAAAA downstream-variant-500B
rs113197256 -- 118,825,492(+) AAAGC(C/T)CAAGC reference, missense

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)

Relevant External Links 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

Relevant External Links for ZCCHC12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZCCHC12

No disorders were found for ZCCHC12 Gene.

No data available for MalaCards , 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 Q.L. … Yang A.K. (Med. Oncol. 2012) 2 3 64
  2. Human ZCCHC12 activates AP-1 and CREB signaling as a transcriptional co-activator. (PMID: 19578717) Li H. … Zhang J. (Acta Biochim. Biophys. Sin. (Shanghai) 2009) 2 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. MxA interacts with and is modified by the SUMOylation machinery. (PMID: 25447205) Brantis-de-Carvalho C.E. … Valentini S.R. (Exp. Cell Res. 2015) 3 64

Products for ZCCHC12 Gene

Sources for ZCCHC12 Gene

Content
Loading form....