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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]
SPTBN4 (Spectrin Beta, Non-Erythrocytic 4) is a Protein Coding gene. Diseases associated with SPTBN4 include Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness and Sptbn4 Disorder. Among its related pathways are Signaling by GPCR and L1CAM interactions. 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 | ISS | -- |
GO:0005200 | structural constituent of cytoskeleton | TAS | 11294830 |
GO:0005515 | protein binding | IPI | 11086001 |
GO:0005543 | phospholipid binding | IEA | -- |
GO:0019902 | phosphatase binding | IPI | 11086001 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 11294830 |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005884 | actin filament | ISS | -- |
GO:0005886 | plasma membrane | ISS | -- |
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:0002028 | regulation of sodium ion transport | ISS | -- |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0007409 | axonogenesis | ISS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · | 20b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 20c | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27a | · | 27b | · | 27c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPTBN4 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPTBN4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPTBN4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sptbn4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sptbn4 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPTBN4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SPTBN4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | SPTBN4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sptbn4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SPTBN4 (3 of 3) 31 |
|
OneToMany | |
SPTBN4 (2 of 3) 31 |
|
OneToMany | |||
SPTBN4 (1 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | beta-Spec 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | M116.5 32 |
|
|
|
unc-70 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
871296 | Uncertain Significance: not provided | 40,560,163(+) |
G/A NM_020971.3(SPTBN4):c.5675G>A (p.Arg1892Gln) |
MISSENSE | |
873518 | Uncertain Significance: SPTBN4-related neurodevelopmental disorder | 40,519,940(+) |
G/C NM_020971.3(SPTBN4):c.3443G>C (p.Arg1148Pro) |
MISSENSE | |
873519 | Uncertain Significance: SPTBN4-related neurodevelopmental disorder | 40,523,492(+) |
C/G NM_020971.3(SPTBN4):c.3710C>G (p.Ala1237Gly) |
MISSENSE | |
985015 | Pathogenic: Inborn genetic diseases | 40,506,383(+) |
C/T NM_020971.3(SPTBN4):c.1813C>T (p.Gln605Ter) |
NONSENSE | |
986056 | Pathogenic: Inborn genetic diseases | 40,523,610(+) |
TC/T NM_020971.3(SPTBN4):c.3829del (p.Gln1277fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007999 | CNV | deletion | 20482838 |
esv2667159 | CNV | deletion | 23128226 |
esv2676684 | CNV | deletion | 23128226 |
esv2718565 | CNV | deletion | 23290073 |
esv3644351 | CNV | loss | 21293372 |
esv3644352 | CNV | loss | 21293372 |
esv3644353 | CNV | loss | 21293372 |
esv3644355 | CNV | loss | 21293372 |
esv3644356 | CNV | loss | 21293372 |
esv992020 | CNV | loss | 20482838 |
nsv138059 | CNV | insertion | 16902084 |
nsv477924 | CNV | novel sequence insertion | 20440878 |
nsv478209 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
|
|
sptbn4 disorder |
|
|
spinocerebellar ataxia 5 |
|
|
developmental and epileptic encephalopathy 5 |
|
|
neuropathy |
|
|