ZIC2 (Zic family member 2)

2010-06-01 Affiliation

Identity

HGNC

ZIC2

LOCATION

13q32.3

LOCUSID

7546

ALIAS

HPE5

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7546
MIM: 603073
HGNC: 12873
Ensembl: ENSG00000043355

Variants:

dbSNP: 7546
ClinVar: 7546
TCGA: ENSG00000043355
COSMIC: ZIC2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000043355	ENST00000376335	O95409
ENSG00000043355	ENST00000376335	A0A024RDY6

Expression (GTEx)

100

150

200

250

300

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
13678579	2003	Zic2 patterns binocular vision by specifying the uncrossed retinal projection.	91
18417618	2008	Zic2 promotes axonal divergence at the optic chiasm midline by EphB1-dependent and -independent mechanisms.	43
26426078	2015	ZIC2-dependent OCT4 activation drives self-renewal of human liver cancer stem cells.	41
15221788	2004	Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.	38
15590697	2005	In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.	30
21908606	2011	Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling.	30
21940735	2011	New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.	29
19177455	2009	The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.	27
19955556	2010	Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.	25
19022413	2009	Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.	21

Citation

Dessen P

ZIC2 (Zic family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51523/zic2