SEPTIN5 septin 5
Gene ID: 5413, updated on 11-Apr-2024Gene type: protein coding
Also known as: H5; SEPT5; CDCREL; PNUTL1; CDCREL1; CDCREL-1; Septin-5; HCDCREL-1
- See all available tests in GTR for this gene
- Go to complete Gene record for SEPTIN5
- Go to Variation Viewer for SEPTIN5 variants
Summary
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. GeneReviews: Not available |
Genomic context
- Location:
- 22q11.21
- Sequence:
- Chromosome: 22; NC_000022.11 (19714503..19723319)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEPTIN5 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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