SEPTIN12 septin 12
Gene ID: 124404, updated on 19-Sep-2024Gene type: protein coding
Also known as: SEPT12; SPGF10
- See all available tests in GTR for this gene
- Go to complete Gene record for SEPTIN12
- Go to Variation Viewer for SEPTIN12 variants
Summary
This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spermatogenic failure 10 | See labs |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (4777606..4791828, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEPTIN12 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
- SEPT12 @ LOVD
- Variation ViewerRelated Variants
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