InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZIC2

Summary

InnateDB Protein

IDBP-46821.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZIC2

Protein Name

Zic family member 2

Synonyms

HPE5;

Species

Homo sapiens

Ensembl Protein

ENSP00000365514

InnateDB Gene

IDBG-46819 (ZIC2)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

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

Disease Associations

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:0000269PubMed:11285244, ECO:0000269PubMed:15221788, ECO:0000269PubMed:19177455}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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