Homo sapiens Gene: SPTBN4

Summary
InnateDB Gene IDBG-51618.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SPTBN4
Gene Name spectrin, beta, non-erythrocytic 4
Synonyms QV; SPNB4; SPTBN3
Species Homo sapiens
Ensembl Gene ENSG00000160460
Encoded Proteins
IDBP-51620 spectrin, beta, non-erythrocytic 4
IDBP-51622 spectrin, beta, non-erythrocytic 4
IDBP-51624 spectrin, beta, non-erythrocytic 4
IDBP-246497 spectrin, beta, non-erythrocytic 4
IDBP-246499 spectrin, beta, non-erythrocytic 4
IDBP-765504
IDBP-766023
IDBP-761718
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19: 40972148-41082370
Strand Forward strand
Band q13.2
Transcripts
ENST00000352632  ENSP00000263373
ENST00000344104  ENSP00000340741
ENST00000338932  ENSP00000340345
ENST00000392025  ENSP00000375879
ENST00000392023  ENSP00000375877
ENST00000595690 
ENST00000597389  ENSP00000472136
ENST00000593932 
ENST00000598249  ENSP00000469242
ENST00000593816 
ENST00000598775 
ENST00000596900 
ENST00000595535  ENSP00000470693
ENST00000596411 
ENST00000599926 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein‑Protein  14
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0019902 phosphatase binding
GO:0030506 ankyrin binding
GO:0030507 spectrin binding
Biological Process
GO:0002028 regulation of sodium ion transport
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007605 sensory perception of sound
GO:0007628 adult walking behavior
GO:0009566 fertilization
GO:0010459 negative regulation of heart rate
GO:0016192 vesicle-mediated transport
GO:0019226 transmission of nerve impulse
GO:0021952 central nervous system projection neuron axonogenesis
GO:0022414 reproductive process
GO:0030534 adult behavior
GO:0033135 regulation of peptidyl-serine phosphorylation
GO:0034613 cellular protein localization
GO:0040018 positive regulation of multicellular organism growth
GO:0045162 clustering of voltage-gated sodium channels
GO:0051693 actin filament capping
GO:0061337 cardiac conduction
GO:0090002 establishment of protein localization to plasma membrane
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0008091 spectrin
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0016605 PML body
GO:0030424 axon
GO:0033268 node of Ranvier
GO:0043025 neuronal cell body
GO:0043194 axon initial segment
GO:0043203 axon hillock
GO:0070852 cell body fiber
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000011751 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000004751 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_22266 Interaction between L1 and Ankyrins
REACT_18334 NCAM signaling for neurite out-growth
REACT_88653 NCAM signaling for neurite out-growth
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9H254 
TrEMBL C9JRP8 C9JY79 E9PGQ5 Q9UFA1
UniProt Splice Variant
Entrez Gene 57731 
UniGene Hs.32706 Hs.595840
RefSeq NM_020971  NM_025213 
HUGO 14896 
OMIM 606214
CCDS CCDS12559  CCDS42569 
HPRD 09372
IMGT
EMBL AB046862 AC020929 AF082075 AF311855 AL133093 AY004226 AY004227
GenPept AAF93171  AAF93172  AAF93173  AAG38874  AAG42473  BAB13468  CAB61407 
ImmGen SPTBN4 (murine) 
RNA Seq Atlas 57731