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

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
  • Zinc Finger Protein ZIC 2 3
  • 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. Expansion of an alanine repeat in the C-terminus of the encoded protein and other 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 2016]

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 Mesodermal Commitment Pathway. 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 ZIC1.

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 CIViC summary , 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 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
GH13G099990 1.5 FANTOM5 ENCODE dbSUPER 11.1 +8.8 8754 0.8 ZSCAN4 KLF17 ZNF2 RARA GLIS2 EGR2 ZNF202 SP5 ZFP69B GLIS1 ZIC5 ZIC2 GC13P099996
GH13G099991 1.3 FANTOM5 ENCODE dbSUPER 11 +11.2 11163 2.2 CTCF PKNOX1 SUZ12 INSM2 RBBP5 FEZF1 ZNF384 ZNF2 RAD21 ZNF324 ZIC2 ZIC5 GC13P099996
GH13G099978 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7 +1.7 1745 10.8 HDGF ARNT CREB3L1 AGO1 SIN3A FEZF1 ZNF2 FOS ZNF263 SP3 ZIC5 ZIC2 GC13P099996
GH13G099655 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.2 -323.9 -323875 5.3 PKNOX1 FOXA2 ATF1 ZSCAN4 WRNIP1 SIN3A ZNF2 RAD21 RARA RFX5 ZIC5 CLYBL ZIC2 LINC00449 MIR4306 GC13P099679
GH13G099948 0.9 dbSUPER 12.6 -31.8 -31806 2.6 HDAC1 PKNOX1 ZSCAN4 FEZF1 TCF12 GLIS2 EGR1 EGR2 ZNF263 USF2 ZIC5 ZIC2 LOC101927437 GC13P099922
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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

InterPro:
ProtoNet:

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.
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.
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 transcription factor activity, sequence-specific DNA binding ISS --
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

Human Phenotype Ontology for ZIC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZIC2

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
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 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 --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ZIC2: view

Pathways & Interactions for ZIC2 Gene

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
genes like me logo Genes that share pathways with ZIC2: view

Pathways by source for ZIC2 Gene

1 BioSystems pathway for ZIC2 Gene

Gene Ontology (GO) - Biological Process for ZIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007420 brain development TAS 9771712
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZIC2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ZIC2 Gene



Protein tissue co-expression partners for ZIC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZIC2 Gene:

ZIC2

SOURCE GeneReport for Unigene cluster for ZIC2 Gene:

Hs.653700

Evidence on tissue expression from TISSUES for ZIC2 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZIC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tooth
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with ZIC2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ZIC2 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ZIC2 34 35
  • 95.63 (n)
oppossum
(Monodelphis domestica)
Mammalia ZIC2 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZIC2 34 35
  • 91.05 (n)
mouse
(Mus musculus)
Mammalia Zic2 34 16 35
  • 90.74 (n)
rat
(Rattus norvegicus)
Mammalia Zic2 34
  • 90.23 (n)
chicken
(Gallus gallus)
Aves ZIC2 34 35
  • 88.42 (n)
lizard
(Anolis carolinensis)
Reptilia ZIC2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zic2 34
  • 76.27 (n)
zebrafish
(Danio rerio)
Actinopterygii zic2b 35
  • 77 (a)
OneToMany
zic2a 34 35
  • 76.2 (n)
zic2 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10414 34
fruit fly
(Drosophila melanogaster)
Insecta opa 36 35
  • 61 (a)
lmd 36
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14192 34
Species where no ortholog for ZIC2 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)
  • 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
rs794729641 Likely pathogenic, Holoprosencephaly 5 (HPE5) [MIM:609637] 99,985,328(+) GTCCA(G/T)GAGTC reference, missense, stop-lost
VAR_023793 Holoprosencephaly 5 (HPE5) [MIM:609637]
VAR_023794 Holoprosencephaly 5 (HPE5) [MIM:609637]
VAR_058592 Holoprosencephaly 5 (HPE5) [MIM:609637]
VAR_058593 Holoprosencephaly 5 (HPE5) [MIM:609637]

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

Variant ID Type Subtype PubMed ID
dgv345n67 CNV gain 20364138
dgv346n67 CNV gain 20364138
dgv347n67 CNV gain 20364138
esv24692 CNV gain 19812545
esv2672999 CNV deletion 23128226
esv2747875 CNV deletion 23290073
nsv1070192 CNV deletion 25765185
nsv1146 CNV deletion 18451855
nsv456093 CNV loss 19166990
nsv510622 CNV deletion 20534489
nsv562953 CNV loss 21841781
nsv562954 CNV loss 21841781
nsv826757 CNV loss 20364138
nsv826766 CNV gain 20364138
nsv832697 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
lobar holoprosencephaly
zic2-related holoprosencephaly
  • holoprosencephaly 5
- 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:15590697, ECO:0000269 PubMed:19177455, ECO:0000269 PubMed:9771712}. 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. 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 4 22 64
  2. 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 22 46 64
  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 22 64
  4. 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 22 46 64
  5. 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 22 64

Products for ZIC2 Gene

Sources for ZIC2 Gene

Content
Loading form....