Property Summary

NCBI Gene PubMed Count 23
PubMed Score 53.81
PubTator Score 32.73

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (1)

Disease log2 FC p
lung cancer 4.200 3.0e-07

Synonym

Accession Q13064
Symbols CPPB2
D15S9
RNF63
ZFP127
ZNF127

Gene

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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.
24438377 A novel MKRN3 mutation (p.C340G) in a girl with central precocious puberty and her brother with early puberty.
23738509 Deficiency of MKRN3 causes central precocious puberty in humans.
22082156 Knockdown of makorin ring finger protein 3 (MKRN3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N
10196367 MKRN3 gene is imprinted, with preferential expression from the paternal allele.

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.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25011910 2014 MKRN3 mutations in familial central precocious puberty.
24628548 2014 Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
24438377 2014 Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.
23738509 2013 Central precocious puberty caused by mutations in the imprinted gene MKRN3.
22493164 2012 Systematic analysis of dimeric E3-RING interactions reveals increased combinatorial complexity in human ubiquitination networks.
21516116 2011 Next-generation sequencing to generate interactome datasets.
19844787 Genomic imprinting disorders in humans: a mini-review.
19549727 2009 Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network.
19066619 2009 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10196367 1999 A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.