MRTFB myocardin related transcription factor B
Gene ID: 57496, updated on 5-Mar-2024Gene type: protein coding
Also known as: MKL2; MRTF-B; NPD001
- See all available tests in GTR for this gene
- Go to complete Gene record for MRTFB
- Go to Variation Viewer for MRTFB variants
Summary
Enables transcription coactivator activity. Involved in positive regulation of pri-miRNA transcription by RNA polymerase II and positive regulation of striated muscle tissue development. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 16p13.12
- Sequence:
- Chromosome: 16; NC_000016.10 (13994774..14266779)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MRTFB 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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