ZIC3 (Zic family member 3)

2007-02-01  

Identity

HGNC
LOCATION
Xq26.3
LOCUSID
ALIAS
HTX,HTX1,VACTERLX,ZNF203

Other Information

Locus ID:

NCBI: 7547
MIM: 300265
HGNC: 12874
Ensembl: ENSG00000156925

Variants:

dbSNP: 7547
ClinVar: 7547
TCGA: ENSG00000156925
COSMIC: ZIC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156925ENST00000287538O60481
ENSG00000156925ENST00000370606O60481

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of pluripotent stem cellsREACTOMER-HSA-452723
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferationREACTOMER-HSA-2892247

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
146818282004Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.72
172952472007Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.19
187160252008Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.19
241238902014Genetic and functional analyses of ZIC3 variants in congenital heart disease.16
171853872007Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.13
149852562004Disruption of gradient expression of Zic3 resulted in abnormal intra-retinal axon projection.12
234271882013The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.12
262940942015Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.12
221716282013Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.11
264985242015MiR-564 functions as a tumor suppressor in human lung cancer by targeting ZIC3.11

Citation

Dessen P

ZIC3 (Zic family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45673/zic3