Gene
MKRN3
makorin ring finger protein 3
- HGNC 7114(opens in a new tab)
- Ensembl gene ENSG00000179455(opens in a new tab)
- NCBI Gene 7681(opens in a new tab)
Summary
- Cytogenetic location
- 15q11.2
- Coordinates
- Chromosome 15: 23,565,674–23,568,044 (GRCh38)
- Exons
- 1 exon across 2.4 kb
- Protein
- 507 amino acids
- Also known as
- RNF63, ZFP127, MGC88288
- Previous symbols
- ZNF127, D15S9
- MANE Select transcript
- ENST00000314520.6NM_005664.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Monogenic Precocious Puberty
- Central precocious puberty
Early activation of the brain signals that start puberty, including familial forms due to MKRN3, DLK1, KISS1 and KISS1R variants.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Treatment with GnRH analogues can pause puberty until a more typical age.
How MKRN3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 2.4 kb; 1,524 of those bases code for the protein.
How a genome test reads MKRN3
2
positions in MKRN3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 2.4 kb of MKRN3, introns included, not only the 2.4 kb of exons.
Traits linked to MKRN3
The Human Phenotype Ontology lists these as features of the rare conditions MKRN3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Narrow palm
- Short foot
- Short palm
- Radial deviation of finger
- Webbed fingers or toes
- Acromicria
- Curvature of digit
- Knock knees
Show 1 more trait
Abnormality of the genitourinary system
- Infertility
- Underdevelopment of external reproductive organs
- Undescended testes
- Light or infrequent menstrual periods
- Short penis
- Small clitoris
- Underdeveloped inner lips
- Primary amenorrhea
Show 1 more trait
Abnormality of the musculoskeletal system
- Low muscle tone, in neonatal onset
- Generalized decreased muscle tone
- Scoliosis
- Abnormal formation of the hip
- Decreased muscle mass
- Hunched back
- Osteopenia
- Osteoporosis
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MKRN3 gene: makorin ring finger protein 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/mkrn3
Dante Labs. MKRN3 gene: makorin ring finger protein 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mkrn3
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