SEPTIN5

Chr 22

septin 5

Also known as: CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, SEPT5, Septin-5

NCBI Gene: 5413 ENSG00000184702 UniProt: Q99719 OMIM: 602724

SEPTIN5 encodes a filament-forming cytoskeletal GTPase that regulates cytoskeletal organization and may function in cytokinesis and platelet secretion. The gene is highly constrained against loss-of-function variants and is located in the 22q11 region that is frequently deleted in DiGeorge and velocardiofacial syndromes. Mutations in SEPTIN5 itself have not been established as a cause of Mendelian disease, though the gene's involvement in chromosomal rearrangements has been reported in acute myeloid leukemia.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.36

LOEUF

Multiple*

Mechanism· predicted