SPTB Gene Summary [Human]
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | SPTB |
| Official Name | spectrin beta, erythrocytic [Source:HGNC Symbol;Acc:HGNC:11274] |
| Ensembl ID | ENSG00000070182 |
| Bio databases IDs | |
| Aliases | spectrin beta, erythrocytic, spherocytosis, clinical type I |
| Synonyms | AI842465, Beta1 Spectrin, betaI-Spectrin, D330027P03, D330027P03Rik, EL3, Erythrocytic β spectrin, Gm1301, HS2, HSPTB1, ja, jaundiced, LOC679700, LOC687997, mKIAA4219, spectrin beta, erythrocytic, spectrin, beta, erythrocytic, spectrin β, erythrocytic, spectrin, β, erythrocytic, SPH2, SPNB1, SPTB1, βI-Spectrin |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human SPTB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC
- Calponin homology domain
- membrane-association domain
- protein binding
- Pleckstrin homology-like domain
- actin filament binding
- chromosome segregation protein SMC, common bacterial type
- Spectrin repeats
- actin-binding domain
- spectrin homology domain
- ankyrin binding
- actin binding
- Spectrin repeat
- PH domain
- calponin homology (CH) domain superfamily
Pathways
Biological processes and signaling networks where the SPTB gene in human 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.
disease
- non-insulin-dependent diabetes mellitus
- hereditary spherocytosis
- hereditary spherocytosis type 2
- sickle cell anemia
- Chagas cardiomyopathy
- elliptocytosis type 3
- fatal or near-fatal perinatal hemolytic anemia
- aortic valve calcification
- anemia
- hereditary pyropoikilocytosis
role in cell
- quantity
- activation
- stimulation
- hematopoiesis
- organization
- volume
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cortical cytoskeleton
- cytoskeleton
- cell surface
- postsynaptic region
- cellular membrane
- actin cytoskeleton
- Nucleus
- Golgi Apparatus
- cytosol
- cytoplasmic face of plasma membrane
- multivesicular bodies
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPTB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- actin filament capping
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- actin cytoskeleton
- cell junction
- cytosol
- macromolecular complex
- cell projection
- spectrin
- plasma membrane
- cortical actin cytoskeleton
- internal side of plasma membrane
- spectrin-associated cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- actin binding
- ankyrin binding
- structural constituent of cytoskeleton