SMAD9 SMAD family member 9
Gene ID: 4093, updated on 17-Jun-2024Gene type: protein coding
Also known as: PPH2; MADH6; MADH9; SMAD8; SMAD8A; SMAD8B; SMAD8/9
- See all available tests in GTR for this gene
- Go to complete Gene record for SMAD9
- Go to Variation Viewer for SMAD9 variants
Summary
The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pulmonary hypertension, primary, 2 | See labs |
Genomic context
- Location:
- 13q13.3
- Sequence:
- Chromosome: 13; NC_000013.11 (36844831..36920854, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMAD9 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
- SMAD9 database
- Variation ViewerRelated Variants
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