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Aliases for ZIC3 Gene

Aliases for ZIC3 Gene

  • Zic Family Member 3 2 3 5
  • Zic Family Member 3 (Odd-Paired Homolog, Drosophila) 2 3
  • Zinc Finger Protein Of The Cerebellum 3 3 4
  • Zinc Finger Protein 203 3 4
  • Heterotaxy 1 2 3
  • ZNF203 3 4
  • VACTERLX 3
  • HTX1 3
  • HTX 3

External Ids for ZIC3 Gene

Previous HGNC Symbols for ZIC3 Gene

  • HTX1

Previous GeneCards Identifiers for ZIC3 Gene

  • GC0XP131220
  • GC0XP133493
  • GC0XP134593
  • GC0XP135353
  • GC0XP136373
  • GC0XP136475
  • GC0XP136648
  • GC0XP125916

Summaries for ZIC3 Gene

Entrez Gene Summary for ZIC3 Gene

  • This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]

GeneCards Summary for ZIC3 Gene

ZIC3 (Zic Family Member 3) is a Protein Coding gene. Diseases associated with ZIC3 include Vacterl Association, X-Linked and Heterotaxy, Visceral, 1, X-Linked. Among its related pathways are Transcriptional regulation of pluripotent stem cells and Developmental Biology. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is YY1.

UniProtKB/Swiss-Prot for ZIC3 Gene

  • Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5-GGGTGGTC-3.

Gene Wiki entry for ZIC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZIC3 Gene

Genomics for ZIC3 Gene

Regulatory Elements for ZIC3 Gene

Enhancers for ZIC3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ZIC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZIC3 Gene

Chromosome:
X
Start:
137,566,142 bp from pter
End:
137,577,691 bp from pter
Size:
11,550 bases
Orientation:
Plus strand

Genomic View for ZIC3 Gene

Genes around ZIC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZIC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZIC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZIC3 Gene

Proteins for ZIC3 Gene

  • Protein details for ZIC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60481-ZIC3_HUMAN
    Recommended name:
    Zinc finger protein ZIC 3
    Protein Accession:
    O60481
    Secondary Accessions:
    • B2CNW4
    • Q14DE5
    • Q5JY75

    Protein attributes for ZIC3 Gene

    Size:
    467 amino acids
    Molecular mass:
    50569 Da
    Quaternary structure:
    • Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5); the interaction reduces its transcriptional activity (By similarity). Interacts with KPNA1 and KPNA6. Interacts (via C2H2-type domains 3, 4 and 5) with GLI3; the interaction enhances its transcriptional activity.

    Three dimensional structures from OCA and Proteopedia for ZIC3 Gene

    Alternative splice isoforms for ZIC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZIC3 Gene

Proteomics data for ZIC3 Gene at MOPED

Post-translational modifications for ZIC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZIC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZIC3 Gene

Domains & Families for ZIC3 Gene

Gene Families for ZIC3 Gene

Protein Domains for ZIC3 Gene

Suggested Antigen Peptide Sequences for ZIC3 Gene

Graphical View of Domain Structure for InterPro Entry

O60481

UniProtKB/Swiss-Prot:

ZIC3_HUMAN :
  • The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.
  • Belongs to the GLI C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZIC3: view

Function for ZIC3 Gene

Molecular function for ZIC3 Gene

GENATLAS Biochemistry:
zinc finger protein of the cerebellum,mouse Zic homolog
UniProtKB/Swiss-Prot Function:
Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5-GGGTGGTC-3.

Gene Ontology (GO) - Molecular Function for ZIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17764085
genes like me logo Genes that share ontologies with ZIC3: view
genes like me logo Genes that share phenotypes with ZIC3: view

Human Phenotype Ontology for ZIC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZIC3 Gene

MGI Knock Outs for ZIC3:

Animal Model Products

miRNA for ZIC3 Gene

miRTarBase miRNAs that target ZIC3

Transcription Factor Targets for ZIC3 Gene

Selected GeneGlobe predicted Target genes for ZIC3

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for ZIC3 Gene

Localization for ZIC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZIC3 Gene

Nucleus. Cytoplasm. Note=Localizes in the cytoplasm in presence of MDFIC overexpression (By similarity). Translocation to the nucleus requires KPNA1 or KPNA6. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZIC3 Gene COMPARTMENTS Subcellular localization image for ZIC3 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ZIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with ZIC3: view

Pathways & Interactions for ZIC3 Gene

genes like me logo Genes that share pathways with ZIC3: view

SIGNOR curated interactions for ZIC3 Gene

Activates:

Gene Ontology (GO) - Biological Process for ZIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007368 determination of left/right symmetry IMP 9354794
GO:0007389 pattern specification process IEA --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0030154 cell differentiation IEA --
GO:0045893 positive regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with ZIC3: view

Drugs & Compounds for ZIC3 Gene

(1) Drugs for ZIC3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102
genes like me logo Genes that share compounds with ZIC3: view

Transcripts for ZIC3 Gene

mRNA/cDNA for ZIC3 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZIC3 Gene

Zic family member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZIC3 Gene

No ASD Table

Relevant External Links for ZIC3 Gene

GeneLoc Exon Structure for
ZIC3
ECgene alternative splicing isoforms for
ZIC3

Expression for ZIC3 Gene

mRNA expression in normal human tissues for ZIC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZIC3 Gene

This gene is overexpressed in Brain - Cerebellum (x18.9) and Brain - Cerebellar Hemisphere (x18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZIC3 Gene



SOURCE GeneReport for Unigene cluster for ZIC3 Gene Hs.111227

genes like me logo Genes that share expression patterns with ZIC3: view

Protein tissue co-expression partners for ZIC3 Gene

- Elite partner

Primer Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ZIC3 Gene

Orthologs for ZIC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZIC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ZIC3 35
  • 94.91 (n)
  • 97.42 (a)
ZIC3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZIC3 35
  • 94.71 (n)
  • 98.28 (a)
ZIC3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zic3 35
  • 93.06 (n)
  • 98.5 (a)
Zic3 16
Zic3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZIC3 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZIC3 35
  • 80.85 (n)
  • 87.5 (a)
ZIC3 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zic3 35
  • 72.68 (n)
  • 81.96 (a)
African clawed frog
(Xenopus laevis)
Amphibia zic3-A 35
zebrafish
(Danio rerio)
Actinopterygii zic3 35
  • 71.23 (n)
  • 79.37 (a)
zic3 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lmd 37
  • 43 (a)
opa 37
  • 68 (a)
opa 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
CSA.7660 36
  • 36 (a)
ManyToMany
Species with no ortholog for ZIC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZIC3 Gene

ENSEMBL:
Gene Tree for ZIC3 (if available)
TreeFam:
Gene Tree for ZIC3 (if available)

Paralogs for ZIC3 Gene

(7) SIMAP similar genes for ZIC3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ZIC3: view

Variants for ZIC3 Gene

Sequence variations from dbSNP and Humsavar for ZIC3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_007753 Heterotaxy, visceral, 1, X-linked (HTX1)
VAR_025632 Congenital heart defects, multiple types, 1, X-linked (CHTD1)
VAR_025632 Heterotaxy, visceral, 1, X-linked (HTX1)
VAR_025633 Heterotaxy, visceral, 1, X-linked (HTX1)
VAR_025634 Heterotaxy, visceral, 1, X-linked (HTX1)

Structural Variations from Database of Genomic Variants (DGV) for ZIC3 Gene

Variant ID Type Subtype PubMed ID
nsv522544 CNV Gain 19592680

Variation tolerance for ZIC3 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZIC3 Gene

Human Gene Mutation Database (HGMD)
ZIC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZIC3 Gene

Disorders for ZIC3 Gene

MalaCards: The human disease database

(29) MalaCards diseases for ZIC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vacterl association, x-linked
  • vacterl association
heterotaxy, visceral, 1, x-linked
  • congenital heart defects, nonsyndromic, 1, x-linked
heterotaxy
  • heterotaxy, visceral, 2, autosomal
zic3-related visceral heterotaxy
  • htx1
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards
Search ZIC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZIC3_HUMAN
  • Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. {ECO:0000269 PubMed:14681828, ECO:0000269 PubMed:24123890}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. {ECO:0000269 PubMed:14681828, ECO:0000269 PubMed:17295247, ECO:0000269 PubMed:24123890, ECO:0000269 PubMed:9354794}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]: A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. {ECO:0000269 PubMed:20452998, ECO:0000269 PubMed:24123890}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZIC3

Genetic Association Database (GAD)
ZIC3
Human Genome Epidemiology (HuGE) Navigator
ZIC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZIC3
genes like me logo Genes that share disorders with ZIC3: view

No data available for Genatlas for ZIC3 Gene

Publications for ZIC3 Gene

  1. Characterization of the interactions of human ZIC3 mutants with GLI3. (PMID: 17764085) Zhu L. … Belmont J.W. (Hum. Mutat. 2008) 3 4 23 67
  2. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. (PMID: 17185387) Bedard J.E. … Ware S.M. (Hum. Mol. Genet. 2007) 3 23
  3. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. (PMID: 17295247) Chhin B. … Bouvagnet P. (Hum. Mutat. 2007) 3 23
  4. Identification of a novel role of ZIC3 in regulating cardiac development. (PMID: 17468179) Zhu L. … Belmont J.W. (Hum. Mol. Genet. 2007) 3 23
  5. Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? (PMID: 15470371) Fritz B. … Rehder H. (Eur. J. Hum. Genet. 2005) 3 23

Products for ZIC3 Gene

Sources for ZIC3 Gene

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