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Aliases for ZIC2 Gene

Aliases for ZIC2 Gene

  • Zic Family Member 2 2 3 5
  • Zinc Finger Protein Of The Cerebellum 2 2 3 4
  • Zic Family Member 2 (Odd-Paired Homolog, Drosophila) 2 3
  • Zic Family Member 2 (Odd-Paired Drosophila Homolog) 2
  • HPE5 3

External Ids for ZIC2 Gene

Previous GeneCards Identifiers for ZIC2 Gene

  • GC13P098994
  • GC13P095021
  • GC13P099470
  • GC13P098332
  • GC13P099432
  • GC13P100634
  • GC13P081227

Summaries for ZIC2 Gene

Entrez Gene Summary for ZIC2 Gene

  • This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2008]

GeneCards Summary for ZIC2 Gene

ZIC2 (Zic Family Member 2) is a Protein Coding gene. Diseases associated with ZIC2 include Holoprosencephaly-5 and Semilobar Holoprosencephaly. Among its related pathways are Basal cell carcinoma. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin DNA binding. An important paralog of this gene is ZIC3.

UniProtKB/Swiss-Prot for ZIC2 Gene

  • Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5-TGGGTGGTC-3. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos.

Gene Wiki entry for ZIC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZIC2 Gene

Genomics for ZIC2 Gene

Regulatory Elements for ZIC2 Gene

Enhancers for ZIC2 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 ZIC2 on UCSC Golden Path with GeneCards custom track

Promoters for ZIC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZIC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZIC2 Gene

Chromosome:
13
Start:
99,981,772 bp from pter
End:
99,986,773 bp from pter
Size:
5,002 bases
Orientation:
Plus strand

Genomic View for ZIC2 Gene

Genes around ZIC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZIC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZIC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZIC2 Gene

Proteins for ZIC2 Gene

  • Protein details for ZIC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95409-ZIC2_HUMAN
    Recommended name:
    Zinc finger protein ZIC 2
    Protein Accession:
    O95409
    Secondary Accessions:
    • Q5VYA9
    • Q9H309

    Protein attributes for ZIC2 Gene

    Size:
    532 amino acids
    Molecular mass:
    55006 Da
    Quaternary structure:
    • Interacts with RNF180. 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. Interacts with DHX9 (By similarity). Interacts with GLI1 and GLI2 (By similarity).

neXtProt entry for ZIC2 Gene

Proteomics data for ZIC2 Gene at MOPED

Post-translational modifications for ZIC2 Gene

Other Protein References for ZIC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZIC2 Gene

Domains & Families for ZIC2 Gene

Gene Families for ZIC2 Gene

Protein Domains for ZIC2 Gene

Suggested Antigen Peptide Sequences for ZIC2 Gene

Graphical View of Domain Structure for InterPro Entry

O95409

UniProtKB/Swiss-Prot:

ZIC2_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 ZIC2: view

Function for ZIC2 Gene

Molecular function for ZIC2 Gene

GENATLAS Biochemistry:
zinc finger protein 2,expressed in dorsal neural tube,eye and distal limb during development and later only in cerebellum,homolog to mouse Zic2 and Drosophila odd-paired (Opa) gene,putative regulator of the kinetics of regulation,located in the critical region of 13q32 deletion
UniProtKB/Swiss-Prot Function:
Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5-TGGGTGGTC-3. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos.

Gene Ontology (GO) - Molecular Function for ZIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031490 chromatin DNA binding ISS --
genes like me logo Genes that share ontologies with ZIC2: view
genes like me logo Genes that share phenotypes with ZIC2: view

Human Phenotype Ontology for ZIC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZIC2 Gene

Localization for ZIC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZIC2 Gene

Nucleus. Cytoplasm. Note=Localizes in the cytoplasm in presence of MDFIC overexpression. Both phosphorylated and unphosphorylated forms are localized in the nucleus (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZIC2 Gene COMPARTMENTS Subcellular localization image for ZIC2 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for ZIC2 Gene

Pathways & Interactions for ZIC2 Gene

SuperPathways for ZIC2 Gene

Superpath Contained pathways
1 Basal cell carcinoma
genes like me logo Genes that share pathways with ZIC2: view

Pathways by source for ZIC2 Gene

1 KEGG pathway for ZIC2 Gene

Gene Ontology (GO) - Biological Process for ZIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception ISS --
GO:0045892 negative regulation of transcription, DNA-templated ISS --
GO:0045893 positive regulation of transcription, DNA-templated ISS --
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity ISS --
genes like me logo Genes that share ontologies with ZIC2: view

No data available for SIGNOR curated interactions for ZIC2 Gene

Drugs & Compounds for ZIC2 Gene

(2) Drugs for ZIC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ZIC2: view

Transcripts for ZIC2 Gene

Unigene Clusters for ZIC2 Gene

Zic family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZIC2 Gene

No ASD Table

Relevant External Links for ZIC2 Gene

GeneLoc Exon Structure for
ZIC2
ECgene alternative splicing isoforms for
ZIC2

Expression for ZIC2 Gene

mRNA expression in normal human tissues for ZIC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZIC2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x22.9) and Brain - Cerebellum (x20.3).

Protein differential expression in normal tissues from HIPED for ZIC2 Gene

This gene is overexpressed in Monocytes (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ZIC2 Gene



SOURCE GeneReport for Unigene cluster for ZIC2 Gene Hs.653700

genes like me logo Genes that share expression patterns with ZIC2: view

Protein tissue co-expression partners for ZIC2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ZIC2 Gene

Orthologs for ZIC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZIC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ZIC2 35
  • 91.05 (n)
  • 95.43 (a)
ZIC2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZIC2 35
  • 95.63 (n)
  • 99.51 (a)
ZIC2 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zic2 35
  • 90.74 (n)
  • 98.11 (a)
Zic2 16
Zic2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZIC2 35
  • 99.56 (n)
  • 99.81 (a)
ZIC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zic2 35
  • 90.23 (n)
  • 98.3 (a)
oppossum
(Monodelphis domestica)
Mammalia ZIC2 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZIC2 35
  • 88.42 (n)
  • 91.64 (a)
ZIC2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZIC2 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zic2 35
  • 76.27 (n)
  • 84.72 (a)
zebrafish
(Danio rerio)
Actinopterygii zic2 35
zic2a 35
  • 76.2 (n)
  • 87.23 (a)
zic2a 36
  • 89 (a)
OneToMany
zic2b 36
  • 77 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10414 35
fruit fly
(Drosophila melanogaster)
Insecta lmd 37
  • 43 (a)
opa 37
  • 61 (a)
opa 36
  • 35 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14192 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
Species with no ortholog for ZIC2:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 ZIC2 Gene

ENSEMBL:
Gene Tree for ZIC2 (if available)
TreeFam:
Gene Tree for ZIC2 (if available)

Paralogs for ZIC2 Gene

(6) SIMAP similar genes for ZIC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ZIC2: view

Variants for ZIC2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ZIC2 Gene

ZIC2_HUMAN-O95409
The poly-His region between amino acids 231-239 of ZIC2 is polymorphic and the number of His can vary from 8 to 12.

Sequence variations from dbSNP and Humsavar for ZIC2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_023793 Holoprosencephaly 5 (HPE5)
VAR_023794 Holoprosencephaly 5 (HPE5)
VAR_058592 Holoprosencephaly 5 (HPE5)
VAR_058593 Holoprosencephaly 5 (HPE5)
VAR_058594 Holoprosencephaly 5 (HPE5)

Structural Variations from Database of Genomic Variants (DGV) for ZIC2 Gene

Variant ID Type Subtype PubMed ID
esv2747875 CNV Deletion 23290073
dgv345n67 CNV Gain 20364138
nsv826757 CNV Loss 20364138
nsv832697 CNV Loss 17160897
nsv510622 CNV Loss 20534489
dgv346n67 CNV Gain 20364138
nsv900950 CNV Loss 21882294
dgv347n67 CNV Gain 20364138
dgv1784n71 CNV Loss 21882294
nsv826766 CNV Gain 20364138
nsv456093 CNV Loss 19166990
dgv1785n71 CNV Loss 21882294
nsv1146 CNV Loss 18451855
esv2672999 CNV Deletion 23128226
esv24692 CNV Gain 19812545

Variation tolerance for ZIC2 Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.12; 61.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZIC2 Gene

Human Gene Mutation Database (HGMD)
ZIC2

Disorders for ZIC2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ZIC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly-5
  • holoprosencephaly 5
semilobar holoprosencephaly
holoprosencephaly
  • holoprosencephaly sequence
microform holoprosencephaly
  • microform hpe
septopreoptic holoprosencephaly
  • septopreoptic hpe
- elite association - COSMIC cancer census association via MalaCards
Search ZIC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZIC2_HUMAN
  • Holoprosencephaly 5 (HPE5) [MIM:609637]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269 PubMed:11285244, ECO:0000269 PubMed:15221788, ECO:0000269 PubMed:19177455}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZIC2

Genetic Association Database (GAD)
ZIC2
Human Genome Epidemiology (HuGE) Navigator
ZIC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZIC2
genes like me logo Genes that share disorders with ZIC2: view

No data available for Genatlas for ZIC2 Gene

Publications for ZIC2 Gene

  1. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. (PMID: 9771712) Brown S.A. … Muenke M. (Nat. Genet. 1998) 2 3 4 67
  2. Expression status of Zic family member 2 as a prognostic marker for oral squamous cell carcinoma. (PMID: 19784848) Sakuma K. … Uzawa K. (J. Cancer Res. Clin. Oncol. 2010) 3 23
  3. Expression of ZIC family genes in meningiomas and other brain tumors. (PMID: 20199689) Aruga J. … Yokota N. (BMC Cancer 2010) 3 23
  4. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. (PMID: 19022413) QuAclin C. … Pasquier L. (Eur J Med Genet 2009) 3 23
  5. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. (PMID: 19177455) Roessler E. … Muenke M. (Hum. Mutat. 2009) 3 23

Products for ZIC2 Gene

Sources for ZIC2 Gene

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