Property Summary

NCBI Gene PubMed Count 37
Grant Count 115
R01 Count 58
Funding $13,090,843.29
PubMed Score 163.88
PubTator Score 146.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
cutaneous lupus erythematosus 1.500 0.006
psoriasis -1.100 0.008
osteosarcoma -1.054 0.000
atypical teratoid / rhabdoid tumor 1.200 0.000

Synonym

Accession Q9UBX0 Q52LC5 Q99667
Symbols ANF
RPX
CPHD5

Gene

PDB

2K40  

Gene RIF (24)

PMID Text
26111865 A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency
25500790 investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey
23465708 expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome.
23199197 Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS).
21761366 Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150.
21325470 A c.357+3G>A mutation prevents the generation of one of the alternative isoforms normally produced by the wild-type allele, predicting a truncated HESX1 protein.
21270112 A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome.
20949537 A large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, were sequenced for mutations in LHX2, HESX1 and SOX2.
20694410 Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic growth hormone defiency, combined pituitary hormone deficiency and septo-optic dysplasia.
20534763 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGIS      1 - 70
FPSVVDHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIRED     71 - 140
LAQKLNLEEDRIQIWFQNRRAKLKRSHRESQFLMAKKNFNTNLLE                             141 - 185
//

Text Mined References (36)

PMID Year Title
26111865 2015 Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
25500790 2015 Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
23465708 2013 Identification of HESX1 mutations in Kallmann syndrome.
23455924 2013 A Y2H-seq approach defines the human protein methyltransferase interactome.
23199197 2013 Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
21761366 2010 CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas.
21325470 2011 A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
21270112 2011 Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
20949537 2010 Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
20694410 2010 Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
More...