MKRN3

Gene Information
 
Gene Symbol
MKRN3
 
Aliases
CPPB2, D15S9, RNF63, ZFP127, ZNF127
 
Entrez Gene ID
 
Gene Name
Makorin ring finger protein 3
 
Chromosomal Location
15q11.2
 
HGNC ID
 
Summary
The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP
SNP ID
 Associated disease
References
Arg213Glyfs*73
Central Precocious Puberty (CPP)
Tyr391fs*
Central Precocious Puberty (CPP)
Ala162Glyfs*14
Central Precocious Puberty (CPP), Familial Central Precocious Puberty (FCPP), Male central precocious puberty
475_476insC
Central Precocious Puberty (CPP)
1171_1172insA
Central Precocious Puberty (CPP)

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:1990904 Cellular component Ribonucleoprotein complex TAS 10196367
GO:0005515 Molecular function Protein binding IPI 19549727, 21516116, 22046132, 22493164, 24722188, 25416956, 25910212, 26871637, 27107012, 31515488, 32296183
GO:0042802 Molecular function Identical protein binding IPI 22493164, 25416956, 32296183
Protein Information
 
Protein Name
Probable E3 ubiquitin-protein ligase makorin-3, RING finger protein 63, RING-type E3 ubiquitin transferase makorin-3, zinc finger protein 127
 
Function
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
 
Refseq Proteins
 
UniProt
     
References
 
 
PubMed ID Disease SNP/Mutation Study population Ethnicity Age of study population Type of sample
Central Precocious Puberty (CPP) 
Point mutation (-81C>T) in the 5`-UTR  
 boy: 1 
Chinese 
 9 years old 
Blood
Central Precocious Puberty (CPP) 
Frameshift mutation (p.Arg351Serfs*44)  
 Test Subjects- Girls: 10, Boys: 2 
Bulgarian 
 8 years old  
Blood
Sporadic Central Precocious Puberty 
p.Pro161Argfs*10, p.Pro161Argfs*16, p.Gln226Thrfs*6, p.Glu256Glyfs*36  
 Test Subject- 215 (Girls: 207, Boys: 8) 
Brazilian 
 Girls: 8 years and Boys: 9 years 
Blood
Central Precocious Puberty (CPP) 
p.H420Q  
 Test Subjects- Females- 4 and Male- 1; Asymptomatic carrier- Male- 1 
Ashkenazi- Sephardic Jewish 
  
Central Precocious Puberty (CPP) 
p.Arg213Glyfs*73, p.Tyr391fs*, p.Ala162Glyfs*14, p.Arg365Ser  
 Test Subject-27 females and 5 males (32 families) and Control- 5 females and 3 males (8 families) 
European 
 Girls-8 years, Boys-9 years  
Blood
Statistics
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