SPTB
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| spectrin beta, erythrocytic | MIM:182870 | Ensembl:ENSG00000070182 | HGNC:HGNC:11274 | PA36103 | 14q23.3 |
GO terms in SPTB
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0008091 | spectrin |
| CC | IDA | GO:0014731 | spectrin-associated cytoskeleton |
| CC | TAS | GO:0015629 | actin cytoskeleton |
| CC | TAS | GO:0031235 | intrinsic component of the cytoplasmic side of the plasma membrane |
| CC | IDA | GO:0032991 | protein-containing complex |
| BP | TAS | GO:0000165 | MAPK cascade |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IEA | GO:0007010 | cytoskeleton organization |
| BP | TAS | GO:0007411 | axon guidance |
| BP | IEA | GO:0051693 | actin filament capping |
| MF | TAS | GO:0003779 | actin binding |
| MF | TAS | GO:0005088 | Ras guanyl-nucleotide exchange factor activity |
| MF | IEA | GO:0005200 | structural constituent of cytoskeleton |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0030506 | ankyrin binding |
| MF | IDA | GO:0051015 | actin filament binding |
Gene expression in normal tissue: SPTB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPTB
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5673001 | RAF/MAP kinase cascade |
| reactome | R-HSA-5683057 | MAPK family signaling cascades |
| reactome | R-HSA-5684996 | MAPK1/MAPK3 signaling |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6807878 | COPI-mediated anterograde transport |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPTB
CLASSFICATION
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