Property Summary

NCBI Gene PubMed Count 26
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 2.1e-10
medulloblastoma, large-cell 2.500 1.7e-02
ovarian cancer -1.700 3.8e-07

Pathway (1)

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)
18445675 three new exonic LHX4 allelic variants with at least one being responsible for congenital hypopituitarism.
18073311 LHX4 mutations are a relatively rare cause of combined pituitary hormone deficiency.
18053794 We conclude Sp1 directly regulates Lhx4 gene expression.
17667940 endogenous LHX4 binds to the CGA promoter and that LHX4-mediated CGA activation is enhanced by the SS18-SSX protein
15998782 Findings are consistent with the existence of LHX4-driven pathway leading to expression of GH through transcriptional activation of POU1F1. They argue against dominant-negative effect of mutant LHX4 proteins over normal LHX4.
15567726 LHX4 expression is transient, and, at 6 weeks of development, is stronger at the caudal than at the cervical level.
14714741 "Heterozygous splice site mutations within LHX4 are associated with combined pituitary hormone deficiency and isolated growth hormone deficiency... small sella turcica...persistent craniopharyngeal canal...ectopic posterior pituitary... " P. 207
11567216 germline mutations; phenotype characterized by short stature and by pituitary, hindbrain, and skull abnormalities
7913017 In mice, a similar protein plays a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung.

AA Sequence

MMQSATVPAEGAVKGLPEMLGVPMQQIPQCAGCNQHILDKFILKVLDRHWHSSCLKCADCQMQLADRCFS      1 - 70
RAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRKAQDFVYHLHCFACIICNRQLATGDEFYLMEDGRLVC     71 - 140
KEDYETAKQNDDSEAGAKRPRTTITAKQLETLKNAYKNSPKPARHVREQLSSETGLDMRVVQVWFQNRRA    141 - 210
KEKRLKKDAGRHRWGQFYKSVKRSRGSSKQEKESSAEDCGVSDSELSFREDQILSELGHTNRIYGNVGDV    211 - 280
TGGQLMNGSFSMDGTGQSYQDLRDGSPYGIPQSPSSISSLPSHAPLLNGLDYTVDSNLGIIAHAGQGVSQ    281 - 350
TLRAMAGGPTSDISTGSSVGYPDFPTSPGSWLDEMDHPPF                                  351 - 390
//

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.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20534763 2010 Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
19856252 2010 A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency.
18445675 2008 A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
18073311 2008 Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
18053794 2008 Specificity protein 1 (Sp1) plays role in regulating LIM homeodomain transcription factor Lhx4 gene expression.
17667940 2008 The C terminus of the synovial sarcoma-associated SSX proteins interacts with the LIM homeobox protein LHX4.
17527005 2007 A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15998782 2005 Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects.
15567726 2004 Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14714741 2003 Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12118377 2002 A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4.
11844481 2002 cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4.
11567216 2001 Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
7913017 1994 Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival.