MKRN3 makorin ring finger protein 3
Gene ID: 7681, updated on 2-Nov-2024Gene type: protein coding
Also known as: CPPB2; D15S9; RNF63; ZFP127; ZNF127
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- Go to complete Gene record for MKRN3
- Go to Variation Viewer for MKRN3 variants
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]
Associated conditions
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| Description | Tests |
|---|---|
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Prader-Willi syndrome | See labs |
| Precocious puberty, central, 2 | See labs |
Genomic context
- Location:
- 15q11.2
- Sequence:
- Chromosome: 15; NC_000015.10 (23565674..23568044)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MKRN3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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