Property Summary

NCBI Gene PubMed Count 26
Grant Count 15
R01 Count 7
Funding $690,222.79
PubMed Score 39.97
PubTator Score 38.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
group 3 medulloblastoma 5.900 0.000
medulloblastoma, large-cell 2.500 0.017
ovarian cancer -1.700 0.000

Gene RIF (19)

PMID Text
25955177 The study identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R.
25871839 A novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life.
25034524 we found that LHX4 upregulated beta-catenin levels in human colorectal cancer cell lines
23199197 Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS).
23029363 This study is the first to describe, a gradual loss of ACTH in a patient carrying an LHX4 mutation.
22232309 Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development.
21965270 data indicate that LHX4 may act as a potential tumor suppressor in hepatocarcinogenesis, suggesting that targeting LHX4 to downregulate AFP might have therapeutic implications
21270112 A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20534763 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MMQSATVPAEGAVKGLPEMLGVPMQQIPQCAGCNQHILDKFILKVLDRHWHSSCLKCADCQMQLADRCFS      1 - 70
RAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRKAQDFVYHLHCFACIICNRQLATGDEFYLMEDGRLVC     71 - 140
KEDYETAKQNDDSEAGAKRPRTTITAKQLETLKNAYKNSPKPARHVREQLSSETGLDMRVVQVWFQNRRA    141 - 210
KEKRLKKDAGRHRWGQFYKSVKRSRGSSKQEKESSAEDCGVSDSELSFREDQILSELGHTNRIYGNVGDV    211 - 280
TGGQLMNGSFSMDGTGQSYQDLRDGSPYGIPQSPSSISSLPSHAPLLNGLDYTVDSNLGIIAHAGQGVSQ    281 - 350
TLRAMAGGPTSDISTGSSVGYPDFPTSPGSWLDEMDHPPF                                  351 - 390
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Text Mined References (28)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25955177 2015 Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
25871839 2015 Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
25416956 2014 A proteome-scale map of the human interactome network.
25034524 2014 Oncogenicity of LHX4 in colorectal cancer through Wnt/?-catenin/TCF4 cascade.
23199197 2013 Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
23029363 2012 Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
22232309 2012 Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.
21965270 2011 Downregulation of alpha-fetoprotein expression by LHX4: a critical role in hepatocarcinogenesis.
21270112 2011 Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
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