MAML3 mastermind like transcriptional coactivator 3
Gene ID: 55534, updated on 17-Sep-2024Gene type: protein coding
Also known as: GDN; MAM2; CAGH3; ERDA3; MAM-2; TNRC3; mam-3
- See all available tests in GTR for this gene
- Go to complete Gene record for MAML3
- Go to Variation Viewer for MAML3 variants
Summary
Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. GeneReviews: Not available | |
| Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD. GeneReviews: Not available |
Genomic context
- Location:
- 4q31.1
- Sequence:
- Chromosome: 4; NC_000004.12 (139716753..140154184, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAML3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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