SEPTIN9 septin 9
Gene ID: 10801, updated on 11-Apr-2024Gene type: protein coding
Also known as: MSF; MSF1; NAPB; SEPT9; SINT1; PNUTL4; SeptD1; AF17q25
- See all available tests in GTR for this gene
- Go to complete Gene record for SEPTIN9
- Go to Variation Viewer for SEPTIN9 variants
Summary
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of behavioral disinhibition. GeneReviews: Not available | |
| Amyotrophic neuralgia | See labs |
| Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. GeneReviews: Not available | |
| Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. GeneReviews: Not available |
Genomic context
- Location:
- 17q25.3
- Sequence:
- Chromosome: 17; NC_000017.11 (77281499..77500596)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEPTIN9 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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