MKRN3 (makorin ring finger protein 3)

2014-11-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
CPPB2,D15S9,RNF63,ZFP127,ZNF127

Other Information

Locus ID:

NCBI: 7681
MIM: 603856
HGNC: 7114
Ensembl: ENSG00000179455

Variants:

dbSNP: 7681
ClinVar: 7681
TCGA: ENSG00000179455
COSMIC: MKRN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179455ENST00000314520Q13064
ENSG00000179455ENST00000564592H3BPL3
ENSG00000179455ENST00000568252Q6NSB6
ENSG00000179455ENST00000568945A0A3B3ISD8
ENSG00000179455ENST00000647595A0A3B3IRN4
ENSG00000179455ENST00000649065A0A3B3IRU9

Expression (GTEx)

0
1
2
3
4

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
237385092013Central precocious puberty caused by mutations in the imprinted gene MKRN3.100
101963671999A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.58
246285482014Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.34
259573212015A new pathway in the control of the initiation of puberty: the MKRN3 gene.28
244383772014Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.25
250119102014MKRN3 mutations in familial central precocious puberty.21
264315532016Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.19
253164532014A novel MKRN3 missense mutation causing familial precocious puberty.17
256958922015Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls.16
272253152017High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.15

Citation

Dessen P

MKRN3 (makorin ring finger protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70331/mkrn3