Property Summary

NCBI Gene PubMed Count 38
Grant Count 72
R01 Count 50
Funding $7,700,175.08
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 0.002
ovarian cancer 1.800 0.000
pituitary cancer -2.400 0.001
psoriasis -1.400 0.000

Synonym

Accession Q9UBR4 Q5TB39 Q5TB40 Q9NZB5 Q9P0I8 Q9P0I9 LIM homeobox protein 3
Symbols LIM3
CPHD3
M2-LHX3

Gene

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)
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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.
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