| 727922 | Sptbn1 | spectrin, beta, non-erythrocytic 1 | ENCODES a protein that exhibits protein-containing complex binding; ankyrin binding (ortholog); GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); central nervous system development (ortholog); central nervous system formation (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractures (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN glutamatergic synapse; postsynapse; protein-containing complex; INTERACTS WITH 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane; 17alpha-ethynylestradiol; 17beta-estradiol | 14 | 108042629 | 108217884 | Rat | 298 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1351608 | SPTBN1 | spectrin beta, non-erythrocytic 1 | Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 2 | 54456327 | 54671446 | Human | 506 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1551425 | Sptbn1 | spectrin beta, non-erythrocytic 1 | Predicted to enable GTPase binding activity; actin filament binding activity; and ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in central nervous system formation and protein localization to plasma membrane. Acts upstream of or within regulation of SMA D protein signal transduction. Located in several cellular components, including M band; axolemma; and cuticular plate. Is expressed in heart; liver; lung; nervous system; and spleen. Used to study Beckwith-Wiedemann syndrome. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1). [provided by Alliance of Genome Resources, Jul 2025] | 11 | 30049395 | 30218384 | Mouse | 368 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8891192 | Sptbn1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits ankyrin binding (ortholog); GTPase binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); central nervous system development (ortholog); central nervous system formation (ortholog); PARTICIPATES IN tr ansforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractures (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN axolemma (ortholog); cortical cytoskeleton (ortholog); cuticular plate (ortholog) | NW_004955441 | 20248578 | 20378038 | Chinchilla | 58 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11774345 | SPTBN1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN regulation of SMAD protein signal transduction (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractur es (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynapse (ortholog); protein-containing complex (ortholog) | 2A | 54608711 | 54816083 | Bonobo | 77 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12204155 | SPTBN1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN regulation of SMAD protein signal transduction (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractur es (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynapse (ortholog); protein-containing complex (ortholog); INTERACTS WITH mocetinostat | 10 | 55429989 | 55571917 | Dog | 81 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12652480 | Sptbn1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN regulation of SMAD protein signal transduction (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractur es (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynapse (ortholog); protein-containing complex (ortholog) | NW_004936491 | 920830 | 1108374 | Squirrel | 73 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14092509 | SPTBN1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN regulation of SMAD protein signal transduction (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractur es (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynapse (ortholog); protein-containing complex (ortholog); INTERACTS WITH Monobutylphthalate | | | | Pig | 81 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18918487 | Sptbn1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits ankyrin binding (ortholog); GTPase binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); Golgi to plasma membrane protein transport (ortholog); membrane assembly (ortholog); PARTICIPATES IN transform ing growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractures (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN cytoplasm (ortholog); glutamatergic synapse (ortholog); nucleolus (ortholog) | | | | Naked Mole-Rat | 71 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625877634 | Sptbn1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits ankyrin binding (ortholog); GTPase binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); central nervous system development (ortholog); central nervous system formation (ortholog); PARTICIPATES IN tr ansforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractures (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN axolemma (ortholog); cortical cytoskeleton (ortholog); cuticular plate (ortholog) | | | | Black Rat | 58 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18383200 | SPTBN1 | spectrin beta, non-erythrocytic 1 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN regulation of SMAD protein signal transduction (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); Bone Fractur es (ortholog); DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynapse (ortholog); protein-containing complex (ortholog) | | | | Green Monkey | 75 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 286731451 | sptbn1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 286731184 | sptbn1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 286917580 | sptbn1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 25330245 | SPTBN1-AS1 | SPTBN1 antisense RNA 1 | | 2 | 54519317 | 54558705 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, ncrna, VALIDATED [RefSeq] |
| 150573772 | SPTBN1-AS2 | SPTBN1 antisense RNA 2 | | 2 | 54664172 | 54680045 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 16557038 | SPTBN1-AS2 | SPTBN1 antisense RNA 2 | | | | | Human | | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, lncrna |
| 731487 | SPTBN2 | spectrin beta, non-erythrocytic 2 | Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gen e which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] | 11 | 66682497 | 66744682 | Human | 287 | description | gene, protein-coding, REVIEWED [RefSeq] |