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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MKRN3
makorin ring finger protein 3
Chromosome 15 Β· 15q11.2
NCBI Gene: 7681Ensembl: ENSG00000179455.10HGNC: HGNC:7114UniProt: Q13064
76PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingprotein bindingRNA bindingprotein polyubiquitinationprecocious puberty, central, 2Prader-Willi syndromeretinopathyretinoschisis
✦AI Summary

MKRN3 functions as an E3 ubiquitin ligase that acts as a critical developmental timer controlling the onset of puberty by inhibiting premature activation of the reproductive hormone cascade 1. The protein regulates puberty initiation through multiple mechanisms, including epigenetic regulation of GNRH1 transcription by disrupting MBD3 binding to the GNRH1 promoter through non-proteolytic ubiquitination 2. MKRN3 also modulates GNRH1 mRNA stability and translation by ubiquitinating PABP family members 3. Loss-of-function mutations in MKRN3 cause familial central precocious puberty, characterized by premature activation of the hypothalamic-pituitary-gonadal axis before age 8 in girls and 9 in boys 14. The protein influences hypothalamic development and plasticity, with deletion leading to increased dendritic spines in the arcuate nucleus and early puberty onset 5. MKRN3 targets include neurokinin B and IGF2BP1, through which it regulates prepubertal hypothalamic function 5. Beyond reproductive development, MKRN3 functions as a tumor suppressor in non-small cell lung cancer, regulating cell proliferation through PABPC1 ubiquitination 6. Genetic testing for MKRN3 mutations should be considered in familial cases of central precocious puberty 14.

Sources cited
1
MKRN3 gene defects identified in familial central precocious puberty and genetic analysis should be included in clinical investigation
PMID: 26852255
2
Mutations in MKRN3 identified in precocious puberty cases and genetic testing recommended for familial cases
PMID: 33745030
3
MKRN3 epigenetically regulates GNRH1 transcription by disrupting MBD3 binding through non-proteolytic ubiquitination
PMID: 34692086
4
MKRN3 modulates GNRH1 mRNA stability and translation by ubiquitinating PABP family members
PMID: 33744966
5
MKRN3 deletion leads to early puberty onset and affects hypothalamic plasticity, targeting neurokinin B and IGF2BP1
PMID: 37092553
6
MKRN3 functions as tumor suppressor in NSCLC through PABPC1 ubiquitination and regulation of cell proliferation
PMID: 34143182
Disease Associationsβ“˜21
precocious puberty, central, 2Open Targets
0.72Strong
Prader-Willi syndromeOpen Targets
0.31Weak
retinopathyOpen Targets
0.26Weak
retinoschisisOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
multinodular goiterOpen Targets
0.19Weak
tongue cancerOpen Targets
0.17Weak
oropharynx cancerOpen Targets
0.15Weak
ovarian dysfunctionOpen Targets
0.15Weak
Central precocious pubertyOpen Targets
0.11Weak
esophageal ulcerOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.06Suggestive
hypergonadotropic hypogonadism-cataract syndromeOpen Targets
0.06Suggestive
premature ovarian failure 21Open Targets
0.05Suggestive
Precocious puberty, central 2UniProt
Pathogenic Variants11
NM_005664.4(MKRN3):c.862del (p.Ala288fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 288
NM_005664.4(MKRN3):c.137C>A (p.Ser46Ter)Likely pathogenic
Prader-Willi syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 46
NM_005664.4(MKRN3):c.482del (p.Pro161fs)Pathogenic
Precocious puberty, central, 2
β˜…β˜†β˜†β˜†2023β†’ Residue 161
NM_005664.4(MKRN3):c.694_695del (p.Arg232fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 232
NM_005664.4(MKRN3):c.802_803del (p.Met268fs)Likely pathogenic
not provided|MKRN3-related disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 268
NM_005664.4(MKRN3):c.326G>A (p.Cys109Tyr)Likely pathogenic
Precocious puberty, central, 2
β˜…β˜†β˜†β˜†2019β†’ Residue 109
NM_005664.4(MKRN3):c.208_214dup (p.Leu72fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 72
NM_005664.4(MKRN3):c.982C>T (p.Arg328Cys)Pathogenic
Precocious puberty, central, 2
β˜†β˜†β˜†β˜†2017β†’ Residue 328
NM_005664.4(MKRN3):c.1095G>T (p.Arg365Ser)Pathogenic
Precocious puberty, central, 2
β˜†β˜†β˜†β˜†2013β†’ Residue 365
NM_005664.4(MKRN3):c.637del (p.Arg213fs)Pathogenic
Precocious puberty, central, 2
β˜†β˜†β˜†β˜†2013β†’ Residue 213
NM_005664.4(MKRN3):c.1172dup (p.Tyr391Ter)Pathogenic
Precocious puberty, central, 2
β˜†β˜†β˜†β˜†2013β†’ Residue 391
View on ClinVar β†—
Related Genes
ZSWIM2Shared pathway100%ZNF738Shared pathway100%HECTD2Shared pathway100%UBE2QL1Shared pathway100%UBE2Q1Shared pathway100%IRF2BP1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
10%
Ovary
3%
Lung
2%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
MKRN3ZSWIM2ZNF738HECTD2UBE2QL1UBE2Q1IRF2BP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q13064
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.67LoF Tolerant
pLIβ“˜
0.28Tolerant
Observed/Expected LoF0.43 [0.15–1.67]
RankingsWhere MKRN3 stands among ~20K protein-coding genes
  • #6,259of 20,598
    Most Researched76
  • #2,758of 5,498
    Most Pathogenic Variants11
  • #15,961of 17,882
    Most Constrained (LOEUF)1.67
Genes detectedMKRN3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pubertal development and regulation.
PMID: 26852256
Lancet Diabetes Endocrinol Β· 2016
1.00
2
Causes, diagnosis, and treatment of central precocious puberty.
PMID: 26852255
Lancet Diabetes Endocrinol Β· 2016
0.90
3
Diagnosis and management of precocious sexual maturation: an updated review.
PMID: 33745030
Eur J Pediatr Β· 2021
0.80
4
Central precocious puberty: From genetics to treatment.
PMID: 30086862
Best Pract Res Clin Endocrinol Metab Β· 2018
0.70
5
E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non-small cell lung cancer.
PMID: 34143182
J Exp Med Β· 2021
0.60