MEN1 menin 1
Gene ID: 4221, updated on 15-May-2023Gene type: protein coding
Also known as: MEAI; SCG2
- See all available tests in GTR for this gene
- Go to complete Gene record for MEN1
- Go to Variation Viewer for MEN1 variants
Summary
This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. GeneReviews: Not available | |
| Multiple endocrine neoplasia, type 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-01-12) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-12) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 11q13.1
- Sequence:
- Chromosome: 11; NC_000011.10 (64803516..64811294, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for MEN1 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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