Property Summary

NCBI Gene PubMed Count 23
Grant Count 5
R01 Count 1
Funding $624,441.83
PubMed Score 53.81
PubTator Score 32.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
lung cancer 4.200 0.000

Gene RIF (14)

PMID Text
26431553 prevalence of MKNR3 mutations is high in familial cases of idiopathic central precocious puberty (iCPP); onset occurs earlier in patients with MKRN3 mutations than in those without the mutations and sexual dimorphism for age at puberty onset persists in patients with mutations; MKRN3 mutations accelerate postnatal development of the gonadotropic axis
26331766 Case Report: MKRN3 missense mutation in a Danish girl with central precocious puberty and her brother with early puberty.
26175221 Data show similar circulating MKRN3 levels in men with congenital hypogonadotropic hypogonadism (CHH)and healthy controls.
26173472 Data indicate that a novel mutation in the makorin ring finger protein 3 (MKRN3) gene in two sisters with central precocious puberty (CPP) was identified.
25957321 MKRN3 plays an inhibitory role in the reproductive axis to represent a new pathway in pubertal regulation. [Review]
25938887 the present study reveals a relatively low number of MKRN 3 mutations in Korean girls with CPP.
25695892 Declining levels of circulating MKRN3 preceded pubertal onset. The negative correlation between MKRN3 and gonadotropins further supports MKRN3 as a major regulator of hypothalamic GnRH secretion during childhood.
25316453 The MKRN3 protein has a fundamental role in determining pubertal timing.
25011910 MKRN3 mutations appear to be a frequent cause of familial CPP and, considering the imprinted mode of inheritance, may also account for a certain proportion of isolated CPP cases.
24628548 this study identified novel inherited MKRN3 defects in children with apparently sporadic central precocious puberty, supporting a fundamental role of this peptide in the suppression of the reproductive axis.
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AA Sequence

MEEPAAPSEAHEAAGAQAGAEAAREGVSGPDLPVCEPSGESAAPDSALPHAARGWAPFPVAPVPAHLRRG      1 - 70
GLRPAPASGGGAWPSPLPSRSSGIWTKQIICRYYIHGQCKEGENCRYSHDLSGRKMATEGGVSPPGASAG     71 - 140
GGPSTAAHIEPPTQEVAEAPPAASSLSLPVIGSAAERGFFEAERDNADRGAAGGAGVESWADAIEFVPGQ    141 - 210
PYRGRWVASAPEAPLQSSETERKQMAVGSGLRFCYYASRGVCFRGESCMYLHGDICDMCGLQTLHPMDAA    211 - 280
QREEHMRACIEAHEKDMELSFAVQRGMDKVCGICMEVVYEKANPNDRRFGILSNCNHSFCIRCIRRWRSA    281 - 350
RQFENRIVKSCPQCRVTSELVIPSEFWVEEEEEKQKLIQQYKEAMSNKACRYFAEGRGNCPFGDTCFYKH    351 - 420
EYPEGWGDEPPGPGGGSFSAYWHQLVEPVRMGEGNMLYKSIKKELVVLRLASLLFKRFLSLRDELPFSED    421 - 490
QWDLLHYELEEYFNLIL                                                         491 - 507
//

Text Mined References (25)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26431553 2016 Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
26331766 2015 A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.
26175221 2016 Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism.
26173472 2016 In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
25957321 2015 A new pathway in the control of the initiation of puberty: the MKRN3 gene.
25938887 2016 Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls.
25695892 2015 Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls.
25416956 2014 A proteome-scale map of the human interactome network.
25316453 2014 A novel MKRN3 missense mutation causing familial precocious puberty.
More...