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Aliases for ZCCHC12 Gene

Aliases for ZCCHC12 Gene

  • Zinc Finger CCHC-Type Containing 12 2 3
  • Paraneoplastic Ma Antigen Family Member 7A 2 3
  • Smad-Interacting Zinc Finger Protein 1 3 4
  • Zinc Finger, CCHC Domain Containing 12 3 5
  • SIZN1 3 4
  • 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. Diseases associated with ZCCHC12 include nodular goiter. 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 PNMA2.

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

Promoters for ZCCHC12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZCCHC12 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ZCCHC12 Gene at MOPED

Post-translational modifications for ZCCHC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZCCHC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

InterPro:
Blocks:
ProtoNet:

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
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

CRISPR Products

miRNA for ZCCHC12 Gene

miRTarBase miRNAs that target ZCCHC12

Inhibitory RNA Products

In Situ Assay 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
Jensen Localization Image for ZCCHC12 Gene COMPARTMENTS Subcellular localization image for ZCCHC12 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

None

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

Unigene Clusters for ZCCHC12 Gene

Zinc finger, CCHC domain containing 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 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).

SOURCE GeneReport for Unigene cluster for ZCCHC12 Gene Hs.21417

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

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35
  • 99.75 (n)
  • 99.5 (a)
ZCCHC12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZCCHC12 36
  • 80 (a)
OneToOne
ZCCHC12 35
  • 85.38 (n)
  • 81.2 (a)
dog
(Canis familiaris)
Mammalia ZCCHC12 35
  • 85.88 (n)
  • 85.71 (a)
-- 36
  • 76 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Zcchc12 36
  • 74 (a)
ManyToMany
Zcchc18 36
  • 70 (a)
ManyToMany
Zcchc12 16
Zcchc12 35
  • 81.83 (n)
  • 75 (a)
rat
(Rattus norvegicus)
Mammalia Zcchc12 35
  • 81.02 (n)
  • 74.81 (a)
Species with no ortholog for ZCCHC12:
  • 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:

Pseudogenes.org Pseudogenes for ZCCHC12 Gene

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
rs35356061 - 118,825,263(-) GACAC(A/G)TGCAA reference, missense
rs17854957 - 118,825,779(+) AGCTC(A/C)TTTTA reference, missense
rs17853670 - 118,825,884(+) TAATC(A/G)GAATG reference, missense
VAR_075208 -
rs417223 -- 118,822,942(-) aaaaa(A/G)aaaaa upstream-variant-2KB

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

HapMap Linkage Disequilibrium report
ZCCHC12
Human Gene Mutation Database (HGMD)
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
nodular goiter
  • goiter, nodular
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZCCHC12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Q.L. … Yang A.K. (Med. Oncol. 2012) 2 3 67
  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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. 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
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ZCCHC12 Gene

Sources for ZCCHC12 Gene

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