SPTBN4
Summary: 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 localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| spectrin beta, non-erythrocytic 4 | MIM:606214 | Ensembl:ENSG00000160460 | HGNC:HGNC:14896 | PA37918 | 19q13.2 |
GO terms in SPTBN4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005912 | adherens junction |
| CC | IDA | GO:0008091 | spectrin |
| CC | ISS | GO:0008091 | spectrin |
| CC | IEA | GO:0014704 | intercalated disc |
| CC | IDA | GO:0016020 | membrane |
| CC | IDA | GO:0016363 | nuclear matrix |
| CC | ISS | GO:0016363 | nuclear matrix |
| CC | IDA | GO:0016605 | PML body |
| CC | ISS | GO:0016605 | PML body |
| CC | ISS | GO:0033268 | node of Ranvier |
| CC | IEA | GO:0033270 | paranode region of axon |
| CC | ISS | GO:0043025 | neuronal cell body |
| CC | ISS | GO:0043194 | axon initial segment |
| CC | ISS | GO:0043203 | axon hillock |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | ISS | GO:0070852 | cell body fiber |
| BP | TAS | GO:0000165 | MAPK cascade |
| BP | ISS | GO:0002028 | regulation of sodium ion transport |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | TAS | GO:0007016 | cytoskeletal anchoring at plasma membrane |
| BP | ISS | GO:0007409 | axonogenesis |
| BP | TAS | GO:0007411 | axon guidance |
| BP | ISS | GO:0007605 | sensory perception of sound |
| BP | ISS | GO:0007628 | adult walking behavior |
| BP | IEA | GO:0009566 | fertilization |
| BP | ISS | GO:0010459 | negative regulation of heart rate |
| BP | TAS | GO:0016192 | vesicle-mediated transport |
| BP | ISS | GO:0019226 | transmission of nerve impulse |
| BP | ISS | GO:0021952 | central nervous system projection neuron axonogenesis |
| BP | ISS | GO:0033135 | regulation of peptidyl-serine phosphorylation |
| BP | IEA | GO:0040018 | positive regulation of multicellular organism growth |
| BP | ISS | GO:0045162 | clustering of voltage-gated sodium channels |
| BP | IEA | GO:0051693 | actin filament capping |
| BP | ISS | GO:0061337 | cardiac conduction |
| BP | ISS | GO:0072659 | protein localization to plasma membrane |
| MF | ISS | GO:0003779 | actin binding |
| MF | TAS | GO:0003779 | actin binding |
| MF | TAS | GO:0005088 | Ras guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005200 | structural constituent of cytoskeleton |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005543 | phospholipid binding |
| MF | IPI | GO:0019902 | phosphatase binding |
| MF | IDA | GO:0030506 | ankyrin binding |
| MF | ISS | GO:0030506 | ankyrin binding |
| MF | ISS | GO:0030507 | spectrin binding |
Gene expression in normal tissue: SPTBN4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPTBN4
| 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 SPTBN4
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.