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zinc finger protein ZIC2; zinc finger protein of the cerebellum 2 (ZIC2)
Function:
- transcriptional activator or transcriptional repressor
- roles in the early stage of organogenesis of the CNS
- activates 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
- role in formation of the ipsilateral retinal projection at the optic chiasm midline
- drives expression of EPHB1 on ipsilaterally projecting growth cones
- binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'
- associates with the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos
- phosphorylated
- ubiquitinated by RNF180, leading to its degradation
- interacts with RNF180
- interacts (via the C2H2-type zinc finger domains 3, 4 & 5) with MDFIC
- interaction reduces its transcriptional activity
- interacts with DHX9 (putative)
Structure:
- the C2H2-type Zn+2 finger domains 3, 4 & 5 are necessary for transcription activation (putative)
- belongs to the GLI C2H2-type Zn+2-finger protein family
- contains 5 C2H2-type Zn+2 fingers
Compartment:
- nucleus. cytoplasm (putative)
- localizes in the cytoplasm with MDFIC overexpression
- both phosphorylated & unphosphorylated forms are localized in the nucleus (putative)
Polymorphism:
- the poly-His region between amino acids 231-239 of ZIC2 is polymorphic
- the number of His can vary from 8-12
Pathology:
- defects in ZIC2 are a cause of holoprosencephaly type 5
General
nuclear protein
phosphoprotein
zinc finger protein of the cerebellum (ZIC)
Properties
SIZE: entity length = 532 aa
MW = 55 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: histidine-rich region {20-23}
MOTIF: histidine residue (SEVERAL)
alanine-rich region {25-33}
MOTIF: alanine residue (SEVERAL)
alanine-rich region {89-97}
MOTIF: alanine residue (SEVERAL)
transcriptional activation domain
SITE: 100-255
MOTIF: Ser phosphorylation site {S191}
Ser phosphorylation site {S199}
alanine-rich region {226-230}
MOTIF: alanine residue (SEVERAL)
histidine-rich region {231-239}
MOTIF: histidine residue (SEVERAL)
Zn finger C2H2-type
SITE: 256-291
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 300-327
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 333-357
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 363-387
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 393-415
EFFECTOR-BOUND: Zn+2
alanine-rich region {456-470}
MOTIF: alanine residue (SEVERAL)
glycine-rich region {490-508}
Database Correlations
OMIM correlations
UniProt O95409
Pfam PF00096
Entrez Gene 7546
Kegg hsa:7546
References
- UniProt :accession O95409
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ZIC2