Version 5.4
Homo sapiens Gene: ZIC2
Summary
InnateDB Gene IDBG-46819.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ZIC2
Gene Name Zic family member 2
Synonyms HPE5
Species Homo sapiens
Ensembl Gene ENSG00000043355
Encoded Proteins
IDBP-46821
Zic family member 2
IDBP-811239
Zic family member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:99981772-99986773
Strand Forward strand
Band q32.3
Transcripts
ENST00000376335 ENSP00000365514
ENST00000490085
ENST00000468291
ENST00000477213
ENST00000481565
ENST00000620342 ENSP00000481510
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0031490 chromatin DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0001843 neural tube closure
GO:0006351 transcription, DNA-templated
GO:0007399 nervous system development
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007601 visual perception
GO:0030154 cell differentiation
GO:0031290 retinal ganglion cell axon guidance
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048066 developmental pigmentation
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000061524
View Gene Order
ENSBTAG00000025246
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04340
Hedgehog signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.653700 Hs.707293
RefSeq NM_007129
HUGO
OMIM
CCDS CCDS9495
HPRD 04353
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca