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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 gene 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]
SPTBN2 (Spectrin Beta, Non-Erythrocytic 2) is a Protein Coding gene. Diseases associated with SPTBN2 include Spinocerebellar Ataxia 5 and Spinocerebellar Ataxia, Autosomal Recessive 14. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is SPTBN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | TAS | 9826670 |
GO:0005515 | protein binding | IEA | -- |
GO:0005543 | phospholipid binding | IEA | -- |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005938 | cell cortex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Transport to the Golgi and subsequent modification | ||
3 | Sertoli-Sertoli Cell Junction Dynamics |
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
4 | Developmental Biology |
.51
|
|
5 | Cytokine Signaling in Immune system |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0007411 | axon guidance | TAS | -- |
GO:0007416 | synapse assembly | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPTBN2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPTBN2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPTBN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPTBN2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sptbn2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sptbn2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SPTBN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SPTBN2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SPTBN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486199 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC558044 30 |
|
||
sptbn2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | &bgr;-Spec 32 |
|
|
|
beta-Spec 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | unc-70 31 32 |
|
OneToMany | |
M116.5 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638445 | Uncertain Significance: Spinocerebellar ataxia type 5 | 66,687,151(-) | A/G | MISSENSE_VARIANT | |
708496 | Benign: not provided | 66,704,645(-) | C/G | SYNONYMOUS_VARIANT | |
709253 | Likely Benign: not provided | 66,693,034(-) | C/T | MISSENSE_VARIANT | |
711065 | Benign: not provided | 66,704,773(-) | C/T | MISSENSE_VARIANT | |
714047 | Likely Benign: not provided | 66,691,536(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 5 |
|
|
spinocerebellar ataxia, autosomal recessive 14 |
|
|
cerebellar ataxia type 9 |
|
|
epidemic typhus |
|
|
autosomal recessive cerebellar ataxia |
|
|