Property Summary

NCBI Gene PubMed Count 38
PubMed Score 100.93
PubTator Score 58.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
medulloblastoma, large-cell 2.100 2.2e-03
ovarian cancer 1.800 4.6e-11
pituitary cancer -2.400 6.4e-04
psoriasis -1.400 2.2e-05

Gene RIF (25)

PMID Text
25500790 investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey
25399296 LHX3 is upregulated in high-grade oligodendroglioma.
24100213 The downstream enhancer region of LHX3 in regulating gene expression at the cellular level during development, is reported.
23766128 Data suggest that low serum FSH (follicle stimulating hormone) levels in men with SNP in promoter region of FSHB (FSH beta subunit; -211G/T) result from reduced LHX3 binding to FSHB promoter and down-regulation of FSHB transcription in gonadotrophs.
22503243 The present study was unable to confirm a significant association of all of the three SNPs, rs12338076 in LHX3-QSOX2, and rs1457595 and rs17032362 in IGF1, with adult height in our study population.
22286346 descriprion of pediatric patients with combined pituitary hormone deficiency with a novel mutation in LHX3; the T194R mutation affects a critical residue in the LHX3 protein; study extends understanding of phenotypic features, molecular mechanism and developmental course associated with mutations in the LHX3 gene
22238406 This study of the first nonconsanguineous patient with LHX3 mutations demonstrates the pleiotropic roles of LHX3 during development and its full involvement in the complex disease phenotype of syndromic combined pituitary hormone deficiency.
22194342 This study establishes ISL1 as a novel transcriptional regulator of LHX3 and describes a potential mechanism for regulation by PITX1.
21249393 LHX3 mutations are a rare cause of hypopituitarism. We report on a patient with a novel LHX3 mutation in exon 2 with the phenotype of combined pituitary hormone deficiency with short neck and sensorineural hearing impairment. [review]
20534763 Observational study of gene-disease association. (HuGE Navigator)
20189936 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
20189936 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19126629 Existence of cervical vertebral malformations are revealed, responsible for the rigid neck and the development of scoliosis in LIM3 mutated patients.
18583962 Although the LIM interaction domain of Ldb1 (Ldb1(LID)) and Isl1(LBD) share low levels of sequence homology, X-ray and NMR structures reveal that they bind Lhx3 in an identical manner, that is, Isl1(LBD) mimics Ldb1(LID).
18407919 LHX3 mutations is associated with sensorineural hearing loss and interaction between LHX3 and SOX2 may contribute to the development of the inner ear and the anterior pituitary.
17327381 in 7 combined pituitary hormone deficiency patients from 4 consanguineous pedigrees, 4 novel, recessive mutations were identified: a deletion of the entire gene, mutations causing truncated proteins & a mutation causing a substitution in the homeodomain
16613990 Lhx3expression of Isl-1 and Lhx3, together with steroidogenic factor 1 (SF-1), culminates in the activation of both the rat as well as human GnRH-R promoter, suggesting that this combination is evolutionarily conserved among mammals
16394081 The presence of a hypointense pituitary lesion and other clinical findings broadens the phenotype associated with LHX3 gene mutation.
16179410 Specificity protein 1 is a regulator of both promoters through interaction with GC boxes and also, a distal element within intron 1a that is recognized by nuclear factor I is critical for hLHX3b promoter function.
15567726 LHX3 is expressed at all stages of early development.
15517599 identified unique amino acids within LHX3 that are important for its transcriptional activity and are phosphorylated
15271874 LHX3 LIM homeodomain transcription factor is involved in activation of the FSH beta-subunit gene in the pituitary gonadotrope cell.
14714741 "Mutations within LHX3 are associated with recessive combined pituitary hormone deficiency, with sparing of cortisol secretion..." P. 207
14646405 "Mutations in LHX3 are associated with a short neck combination with GHD (growth hormone deficiecy), PRL(prolactin) and TSH (thyroid stimulating hormone) and gonadotropin deficiency" p. 278
11470784 The Lhx3 gene encodes two isoforms, LHX3a and LHX3b, that differ in their amino-terminal sequences. A novel LHX3 protein (M2-LHX3) is identified and it is determined that this molecule is generated by an internal translation initiation codon.

AA Sequence

MLLETGLERDRARPGAAAVCTLGGTREIPLCAGCDQHILDRFILKALDRHWHSKCLKCSDCHTPLAERCF      1 - 70
SRGESVYCKDDFFKRFGTKCAACQLGIPPTQVVRRAQDFVYHLHCFACVVCKRQLATGDEFYLMEDSRLV     71 - 140
CKADYETAKQREAEATAKRPRTTITAKQLETLKSAYNTSPKPARHVREQLSSETGLDMRVVQVWFQNRRA    141 - 210
KEKRLKKDAGRQRWGQYFRNMKRSRGGSKSDKDSVQEGQDSDAEVSFPDEPSLAEMGPANGLYGSLGEPT    211 - 280
QALGRPSGALGNFSLEHGGLAGPEQYRELRPGSPYGVPPSPAAPQSLPGPQPLLSSLVYPDTSLGLVPSG    281 - 350
APGGPPPMRVLAGNGPSSDLSTGSSGGYPDFPASPASWLDEVDHAQF                           351 - 397
//

Text Mined References (40)

PMID Year Title
26612202 2016 Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
25500790 2015 Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
25399296 2015 Lhx3 is required to maintain cancer cell development of high-grade oligodendroglioma.
24100213 2013 Cell-specific actions of a human LHX3 gene enhancer during pituitary and spinal cord development.
23766128 2013 A human FSHB promoter SNP associated with low FSH levels in men impairs LHX3 binding and basal FSHB transcription.
23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
22503243 2012 Replication study of the association of SNPs in the LHX3-QSOX2 and IGF1 loci with adult height in the Japanese population; wide-ranging comparison of each SNP genotype distribution.
22286346 2012 A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.
22238406 2012 Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.
22194342 2012 A distal modular enhancer complex acts to control pituitary- and nervous system-specific expression of the LHX3 regulatory gene.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21249393 2011 A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.
21149718 2011 Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.
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.
20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
19126629 2009 A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations.
18583962 2008 Implementing the LIM code: the structural basis for cell type-specific assembly of LIM-homeodomain complexes.
18407919 2008 Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
17327381 2007 Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
16613990 2006 The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter.
16394081 2006 Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.
16179410 2006 Two promoters mediate transcription from the human LHX3 gene: involvement of nuclear factor I and specificity protein 1.
15865204 2005 DNA recognition properties of the LHX3b LIM homeodomain transcription factor.
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.
15517599 2005 Serine/threonine/tyrosine phosphorylation of the LHX3 LIM-homeodomain transcription factor.
15271874 2004 Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14714741 2003 Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
14646405 2003 Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11470784 2001 An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form.
10903894 2000 Genomic structure, chromosomal localization, and expression pattern of the human LIM-homeobox3 (LHX 3) gene.
10835633 2000 Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
10818088 2000 The homeodomain coordinates nuclear entry of the Lhx3 neuroendocrine transcription factor and association with the nuclear matrix.
10717474 2000 Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9.
10598593 1999 Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.
9452425 1998 The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7665181 1995 Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3.
7626792 1995 Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues.