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Aliases for ZIC2 Gene

Aliases for ZIC2 Gene

  • Zic Family Member 2 2 3
  • Zinc Finger Protein Of The Cerebellum 2 2 3 4
  • Zic Family Member 2 (Odd-Paired Homolog, Drosophila) 2 3
  • HPE5 3 6
  • Zic Family Member 2 (Odd-Paired Drosophila Homolog) 2
  • Zinc Finger Protein ZIC 2 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 zic2-related holoprosencephaly. Among its related pathways are Basal cell carcinoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin DNA binding. An important paralog of this gene is ZIC4.

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

Genomic Location for ZIC2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).

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 for ZIC2 Gene

Gene Families for ZIC2 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

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 :
  • O95409
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:0003677 DNA binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity ISS --
GO:0005515 protein binding --
GO:0031490 chromatin DNA binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZIC2: view
genes like me logo Genes that share phenotypes with ZIC2: view

miRNA for ZIC2 Gene

miRTarBase miRNAs that target ZIC2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for ZIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with ZIC2: view

Pathways 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:0001843 neural tube closure IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007399 nervous system development --
GO:0007417 central nervous system development --
GO:0007420 brain development TAS 9771712
genes like me logo Genes that share ontologies with ZIC2: view

Compounds for ZIC2 Gene

(2) Novoseek inferred chemical compound relationships for ZIC2 Gene

Compound -log(P) Hits PubMed IDs
zinc 41.8 4
alanine 0.791 2
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 (22.9) and Brain - Cerebellum (20.3).

Integrated Proteomics: protein expression 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 expressions with ZIC2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ZIC2 35
  • 99.56 (n)
  • 99.81 (a)
ZIC2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ZIC2 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zic2 35
  • 90.23 (n)
  • 98.3 (a)
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)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10414 35
zebrafish
(Danio rerio)
Actinopterygii zic2 35
zic2a 35
  • 76.2 (n)
  • 87.23 (a)
zic2a 36
  • 89 (a)
OneToMany
zic2b 36
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta opa 36
  • 35 (a)
OneToMany
opa 37
  • 61 (a)
lmd 37
  • 43 (a)
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

Paralogs for ZIC2 Gene

Selected 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

O95409-ZIC2_HUMAN
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 MAF
rs13542 -- 99,986,138(+) CTTCC(A/G)CCCCT utr-variant-3-prime
rs1133911 -- 99,985,346(+) CAGGG(C/T)TCTGA reference, synonymous-codon
rs1334586 -- 99,983,352(+) GTTTT(A/G)AATGA intron-variant
rs1433231 -- 99,979,841(-) ATCCT(C/T)GGGCT upstream-variant-2KB
rs1831992 Benign 99,983,123(+) ATCCA(C/T)AAAAG reference, synonymous-codon

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

Relevant External Links for ZIC2 Gene

HapMap Linkage Disequilibrium report
ZIC2
Human Gene Mutation Database (HGMD)
ZIC2

Disorders for ZIC2 Gene

(1) OMIM Diseases for ZIC2 Gene (603073)

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.

(3) University of Copenhagen DISEASES for ZIC2 Gene

(5) Novoseek inferred disease relationships for ZIC2 Gene

Disease -log(P) Hits PubMed IDs
holoprosencephaly 95.4 14
monosomy 58.9 1
nervous system abnormalities 55.5 1
neural tube defects 54.9 1
spina bifida 38.3 3

Relevant External Links for ZIC2

GeneTests
ZIC2
GeneReviews
ZIC2
Genetic Association Database (GAD)
ZIC2
Human Genome Epidemiology (HuGE) Navigator
ZIC2
genes like me logo Genes that share disorders with ZIC2: view

Publications for ZIC2 Gene

  1. ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene. (PMID: 10984499) Yang Y. … Mouradian M.M. (J. Biol. Chem. 2000) 3 4 23
  2. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. (PMID: 11285244) Brown L.Y. … Muenke M. (Hum. Mol. Genet. 2001) 3 4 23
  3. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PMID: 15221788) Dubourg C. … David V. (Hum. Mutat. 2004) 3 4 23
  4. Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans. (PMID: 14679585) Klootwijk R. … Franke B. (Am. J. Med. Genet. A 2004) 3 23 48
  5. Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. (PMID: 11857562) Brown L.Y. … Brown S. (Am. J. Med. Genet. 2002) 3 23 48

Products for ZIC2 Gene

Sources for ZIC2 Gene

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