SEPTIN6

SEPTIN6 Gene Summary

This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. 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. 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. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
SEPTIN6
Official Name
septin 6 [Source:HGNC Symbol;Acc:HGNC:15848]
Ensembl ID
ENSG00000125354
Bio databases IDs NCBI: 23157 Ensembl: ENSG00000125354
Aliases septin 6
Synonyms
2810035H17Rik,C920001C06RIK,LOC682750,mKIAA0128,SEP2,SEPT2,SEPT6
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GTP binding
  • protein binding
  • Septin
  • P-loop containing Nucleoside Triphosphate Hydrolases

Pathways

Biological processes and signaling networks where the SEPTIN6 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • EGFR
  • SEPTIN3
  • PLEKHF2
  • YWHAG
  • SEPTIN9
  • KAT5
  • NR3C1
  • KRAS
  • COPB2
  • PPT1
disease
  • organismal death
  • androgenic alopecia
  • Klinefelter syndrome
  • Huntington disease
  • neoplastic cell transformation
  • Turner syndrome
regulated by
  • dynasore
  • MED1
  • nocodazole
  • YAP1
  • WWTR1
  • PLOD1
  • ASXL3
  • vincristine
  • KLF3
  • ZNFX1
regulates
role in cell
  • development
  • growth
  • early cytokinesis
  • binucleation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • sperm annulus
  • cytoskeleton
  • presynaptic regions
  • cell cortex
  • midbody
  • cytoplasmic bridges
  • septin ring
  • synaptic vesicles
  • cleavage furrow
  • axon terminals

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the SEPTIN6 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • cilium morphogenesis
  • spermatogenesis
  • cytokinesis after mitosis
  • protein localization
  • cell differentiation

CELLULAR COMPONENT

Where in the cell the gene product is active
  • microtubule cytoskeleton
  • cell division site
  • cleavage furrow
  • septin collar
  • synaptic vesicle
  • kinetochore
  • axon terminus
  • septin ring
  • sperm annulus
  • spindle
  • midbody
  • septin complex

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • GTP binding
  • protein binding
  • GTPase activity
  • binding, bridging

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.