SEPT6

Septin-6 is a protein that in humans is encoded by the SEPT6 gene.^[5][6][7]

SEPTIN6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2QAG
Identifiers
Aliases	SEPTIN6, SEP2, SEPT2, septin 6, SEPT6
External IDs	OMIM: 300683; MGI: 1888939; HomoloGene: 62617; GeneCards: SEPTIN6; OMA:SEPTIN6 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq24 Start 119,615,724 bp[1] End 119,693,370 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A3.3 Start 36,174,979 bp[2] End 36,255,447 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus lymph node granulocyte right adrenal cortex appendix left adrenal gland left adrenal cortex blood bone marrow cell spleen Top expressed in barrel cortex lumbar spinal ganglion facial motor nucleus habenula thymus medial geniculate nucleus medial dorsal nucleus substantia nigra motor neuron blood More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding protein binding GTPase activity molecular adaptor activity Cellular component cytoplasm axon terminus spindle midbody cleavage furrow chromosome, centromeric region cytoskeleton synaptic vesicle kinetochore chromosome septin ring septin collar septin complex sperm annulus cell projection motile cilium cilium presynapse microtubule cytoskeleton septin filament array Biological process cell cycle viral process cell division spermatogenesis cell differentiation mitotic cytokinesis septin ring assembly cilium assembly cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23157 56526 Ensembl ENSG00000125354 ENSMUSG00000050379 UniProt Q14141 Q9R1T4 RefSeq (mRNA) NM_015129 NM_145799 NM_145800 NM_145802 NM_001177323 NM_001177324 NM_001253706 NM_019942 NM_001359140 NM_001359141 NM_001359142 RefSeq (protein) NP_055944 NP_665798 NP_665799 NP_665801 NP_001170794 NP_001170795 NP_001240635 NP_064326 NP_001346069 NP_001346070 NP_001346071 Location (UCSC) Chr X: 119.62 – 119.69 Mb Chr X: 36.17 – 36.26 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined.^[7]

Clinical significance

One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins.^[7]

Interactions

SEPT6 has been shown to interact with SEPT2.^[8][9]