SIX3 (SIX homeobox 3)

2007-02-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
HPE2
FUSION GENES

Other Information

Locus ID:

NCBI: 6496
MIM: 603714
HGNC: 10889
Ensembl: ENSG00000138083

Variants:

dbSNP: 6496
ClinVar: 6496
TCGA: ENSG00000138083
COSMIC: SIX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138083ENST00000260653O95343

Expression (GTEx)

0
10
20
30
40
50
60

References

Pubmed IDYearTitleCitations
149734882004Direct interaction of geminin and Six3 in eye development.88
188364472008Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.68
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
152217882004Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.38
176665272007Repression of Six3 by a corepressor regulates rhodopsin expression.34
193462172009Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.34
193462172009Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.34
219407352011New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.29
187911982008Mutations in the human SIX3 gene in holoprosencephaly are loss of function.26
278211762016The expression profile and clinic significance of the SIX family in non-small cell lung cancer.21

Citation

Dessen P

SIX3 (SIX homeobox 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45571/six3-(six-homeobox-3)