ZIC2

ZIC2

A gene on chromosome 13q32 that encodes a zinc finger protein which, depending on context and ligand, up- or downregulates transcription; it is involved in CNS and retinal development.

Molecular pathology
Defects in ZIC2 cause holoprosencephaly type 5.
References in periodicals archive ?
(15.) Wang J, Ma W, Liu Y Long non-coding RNA HULC promotes bladder cancer cells proliferation but inhibits apoptosis via regulation of ZIC2 and PI3K/AKT signaling pathway.
Nonsyndromic holoprosencephaly can be related with heterozygous mutation of the SHH, ZIC2, SIX3, and TIGF1 genes; however, in rare cases, a possible link to the patched1 (PTCH1) gene localized to the ninth chromosome and that suppresses the SHH pathway has also been reported (7).
As revealed by the RI parameter, TFs with the lowest values have a high out-degree, but at the same time, they present a high in-degree, such is the case of ZHX2, ADNP, SMAD6, POU3F1, GTF2A1, ZIC2, POU6F1, TFAP4, ARID5B, or RUNX1.
Schijvenaars et al., "Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans," American Journal of Medical Genetics, vol.
Site specific mutation of the Zic2 locus by microinjection of TALEN mRNA in mouse CD1, C3H and C57BL/6J oocytes.
Some have been associated with neurodevelopmental disorders: schizophrenia (DIXDC1, ARVCF, MAGI2, ZIC2) (Bradshaw and Porteous 2012; Chen et al.
Among the anti-neuronal antibodies, anti-RI, a nonsurface antigen type, Zic2 antigen (anti-Zic2), and more recently adenomatous polyposis coli antigen (anti-APC) are the most frequently detected [7, 8].
Mutations of the ZIC2 gene on chromosome 13, which plays a critical role in differentiation of the roof plate of the developing embryo, have been implicated in MIH.
Four genes for holoprosencephaly are known: SHH (7q36), ZIC2 (13q32), SIX3 (2p21), and TGIF mapped in the distal most part of the short arm of chromosome 18 (18p11.3) (4).
Asimismo, se han encontrado mutaciones en 9 genes como causantes de HPE: SHH, PTCH, GLI2, DHCR7, ZIC2, TDGF1, TGIF, FAST1 y SIX3.
Polyalanine expansions have been described in 9 genes (HOXD13, RUNX2, ZIC2, HOXA13, FOXL2, SOX3, ARX, PHOX2B, and PABPNI) as the cause of congenital defects (8, 9).
Existen tambien amplificaciones de la tripleta GCG que producen segmentos mas largos del aminoacido alanina en genes cuyas mutaciones causan diferentes padecimientos, en el sindrome del espasmo infantil se encuentra afectado el gen ARX, OMIM 308350; en la displasia cleidocraneal es el gen CBFA1, OMIM 119600; en el sindrome del epicantus inversus tipo 2 es el gen FOXL2, OMIM 110100; en el sindrome manos-pies y genitales es el gen HOXA13, OMIM 142959; en la poli-sindactilia se trata del gen HOXD13, OMIM 142989 y en la holoprosencefalia 5 se trata del gen ZIC2, OMIM 603073 (Anonimo 2004).