Property Summary

NCBI Gene PubMed Count 38
Grant Count 123
R01 Count 103
Funding $12,777,909.75
PubMed Score 648.68
PubTator Score 161.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
group 3 medulloblastoma 3.300 0.000
atypical teratoid / rhabdoid tumor 2.800 0.003
medulloblastoma, large-cell 2.900 0.000
primitive neuroectodermal tumor 3.600 0.024
pituitary cancer -1.200 0.001
psoriasis -1.600 0.000

Synonym

Accession O95343 D6W5A5 Q53T42
Symbols HPE2

Gene

 GO Component (1)

Gene RIF (22)

PMID Text
23977152 SIX3 may play an important role as a novel suppressor in human lung cancer.
22310223 Mutations in SIX3 is associated with holoprosencephaly.
21940735 There was a positive correlation between the severity of the brain malformation and facial features for SHH, SIX3, and TGIF, but no such correlation was found for ZIC2 mutations.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20531442 screened four known HPE genes in a Dutch cohort of 86 non-syndromic HPE index cases, including 53 family members. We detected 21 mutations (24.4%), 3 in SHH, 9 in ZIC2 and 9 in SIX3
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20157829 SIX3 acts directly upstream of SHH, and the SHH pathway is a key regulator of ventral forebrain patterning and mutations are associated with schizencephaly.
20057906 Observational study of gene-disease association. (HuGE Navigator)
19921650 A mutational screen was done to identify possible SIX3 mutations in a cohort of 149 (M:F 81:68) patients with hypopituitarism and/or midline abnormalities, falling within the spectrum of septo-optic dysplasia and holoprosencephaly.
19353631 a novel missense mutation in the SIX3 holoprosencephaly gene was reported.
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AA Sequence

MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGAGGGSGGGNGAGGGGAGGAGGGGGGGS      1 - 70
RAPPEELSMFQLPTLNFSPEQVASVCETLEETGDIERLGRFLWSLPVAPGACEAINKHESILRARAVVAF     71 - 140
HTGNFRDLYHILENHKFTKESHGKLQAMWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKT    141 - 210
HCFKERTRSLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQHQAIGPSGM    211 - 280
RSLAEPGCPTHGSAESPSTAASPTTSVSSLTERADTGTSILSVTSSDSECDV                      281 - 332
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Text Mined References (39)

PMID Year Title
25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
23977152 2013 Down-regulation of SIX3 is associated with clinical outcome in lung adenocarcinoma.
22488850 2012 Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
22310223 2012 Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
21940735 2011 New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20531442 2010 The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20157829 2010 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
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