SCA5
MCID: SPN106
MIFTS: 48

Spinocerebellar Ataxia 5 (SCA5)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 5

MalaCards integrated aliases for Spinocerebellar Ataxia 5:

Name: Spinocerebellar Ataxia 5 57 20 72 13
Spinocerebellar Ataxia Type 5 12 20 58 29 6 15 70
Sca5 57 20 58 72
Ataxia, Spinocerebellar, Type 5 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: adult,elderly;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
genetic anticipation has been observed
patients retain ambulation even after long disease course
variable age at onset (range 10 to 50 years)
infantile onset (in 2 unrelated patients)
maternal anticipation bias


HPO:

31
spinocerebellar ataxia 5:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050882
OMIM® 57 600224
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C0752123
Orphanet 58 ORPHA98766
MedGen 41 C0752123
UMLS 70 C0752123

Summaries for Spinocerebellar Ataxia 5

GARD : 20 Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. The age of onset is usually between the ages of 20 and 30, but a wide range in age of onset has been reported. Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech ( dysarthria ). SCA5 is caused by mutations in the SPTBN2 gene and is inherited in an autosomal dominant manner.

MalaCards based summary : Spinocerebellar Ataxia 5, also known as spinocerebellar ataxia type 5, is related to cerebral palsy, ataxic, autosomal recessive and autosomal dominant cerebellar ataxia, and has symptoms including dysdiadochokinesis, gait ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia 5 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2), and among its related pathways/superpathways are Metabolism of proteins and Developmental Biology. Affiliated tissues include cerebellum, eye and spinal cord, and related phenotypes are gait disturbance and slurred speech

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene.

OMIM® : 57 For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400). (600224) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 5: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.

Related Diseases for Spinocerebellar Ataxia 5

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 cerebral palsy, ataxic, autosomal recessive 30.0 SPTBN2 ITPR1
2 autosomal dominant cerebellar ataxia 29.5 SPTBN2 SLC1A6 ITPR1 GRID2
3 hereditary ataxia 29.4 SPTBN2 ITPR1 GRID2
4 spinocerebellar ataxia, x-linked 5 11.3
5 spinocerebellar ataxia 20 11.1
6 spinocerebellar ataxia 1 10.9
7 spinocerebellar ataxia 25 10.9
8 spinocerebellar ataxia 26 10.9
9 pathologic nystagmus 10.3
10 spinocerebellar ataxia 18 10.2 SPTBN2 GRID2
11 cerebellar degeneration 10.2
12 episodic ataxia, type 6 10.1 SPTBN2 SLC1A6 GRID2
13 spinocerebellar ataxia, autosomal recessive 14 10.1
14 autosomal recessive cerebellar ataxia 10.1
15 glutamate-cysteine ligase deficiency 10.1 EPB41 ANK1
16 spinocerebellar ataxia, autosomal recessive 8 10.1 SPTBN2 SLC1A6
17 seizures, benign familial neonatal, 1 10.1
18 spinocerebellar ataxia 8 10.1
19 cerebral palsy 10.1
20 autoimmune neuropathy 10.0 SPTBN4 NFASC
21 nystagmus 7, congenital, autosomal dominant 10.0 PLEK EPB41
22 strabismus 10.0
23 ataxia and polyneuropathy, adult-onset 10.0
24 alacrima, achalasia, and mental retardation syndrome 10.0
25 mechanical strabismus 10.0
26 spastic paraparesis 10.0
27 hypotonia 10.0
28 tremor 10.0
29 nystagmus 2, congenital, autosomal dominant 9.9 PLEK EPB41
30 congenital hemolytic anemia 9.9 SPTB EPB41 ANK1
31 nystagmus 4, congenital, autosomal dominant 9.9 PLEK EPB41
32 cerebellar ataxia type 41 9.9 ITPR1 GRID2
33 bardet-biedl syndrome 1 9.9
34 3-methylglutaconic aciduria, type iii 9.9
35 rocky mountain spotted fever 9.9
36 spotted fever 9.9
37 boutonneuse fever 9.9
38 bardet-biedl syndrome 9.9
39 peripheral nervous system disease 9.9
40 neuropathy 9.9
41 spinocerebellar ataxia, x-linked 4 9.9 ITPR1 GRID2
42 spinocerebellar ataxia, x-linked 3 9.9 ITPR1 GRID2
43 episodic ataxia 9.9 SPTBN2 SLC1A6 ITPR1
44 spinocerebellar ataxia 30 9.8 SPTBN2 SLC1A6 ITPR1
45 hereditary elliptocytosis 9.8 SPTB SPTAN1 EPB41 ANK1
46 early infantile epileptic encephalopathy 9.8 SPTBN4 SPTBN2 SPTAN1 ANK3
47 cerebellar disease 9.7 SPTBN2 ITPR1 GRID2
48 cardiac arrhythmia, ankyrin-b-related 9.7 ANK3 ANK2
49 brugada syndrome 9.7 SPTBN4 ANK3 ANK2 ANK1
50 west syndrome 9.7 SPTBN4 SPTBN2 SPTBN1 SPTAN1 ANK3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 5:



Diseases related to Spinocerebellar Ataxia 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 5

Human phenotypes related to Spinocerebellar Ataxia 5:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 slurred speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001350
3 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
4 incoordination 58 31 hallmark (90%) Very frequent (99-80%) HP:0002311
5 global developmental delay 31 occasional (7.5%) HP:0001263
6 generalized hypotonia 31 occasional (7.5%) HP:0001290
7 hyperreflexia 31 HP:0001347
8 dysarthria 31 HP:0001260
9 cognitive impairment 31 HP:0100543
10 dysmetria 31 HP:0001310
11 dysdiadochokinesis 31 HP:0002075
12 gait ataxia 31 HP:0002066
13 upper motor neuron dysfunction 31 HP:0002493
14 impaired vibratory sensation 31 HP:0002495
15 intention tremor 31 HP:0002080
16 limb ataxia 31 HP:0002070
17 impaired smooth pursuit 31 HP:0007772
18 gaze-evoked nystagmus 31 HP:0000640
19 facial myokymia 31 HP:0000317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dysdiadochokinesis
gait ataxia
more
Neurologic Peripheral Nervous System:
decreased vibration sense

Head And Neck Eyes:
impaired smooth pursuit
nystagmus, gaze-evoked
nystagmus, downbeat

Head And Neck Face:
facial myokymia, mild

Clinical features from OMIM®:

600224 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 5:


dysdiadochokinesis; gait ataxia; action tremor; cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 ANK1 ANK3 GRID2 ITPR1 NFASC SLC1A6

Drugs & Therapeutics for Spinocerebellar Ataxia 5

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 5

Genetic Tests for Spinocerebellar Ataxia 5

Genetic tests related to Spinocerebellar Ataxia 5:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 5 29 SPTBN2

Anatomical Context for Spinocerebellar Ataxia 5

MalaCards organs/tissues related to Spinocerebellar Ataxia 5:

40
Cerebellum, Eye, Spinal Cord

Publications for Spinocerebellar Ataxia 5

Articles related to Spinocerebellar Ataxia 5:

(show all 48)
# Title Authors PMID Year
1
Case of infantile onset spinocerebellar ataxia type 5. 61 6 57
22914369 2013
2
Spectrin mutations cause spinocerebellar ataxia type 5. 6 57 61
16429157 2006
3
De novo point mutations in patients diagnosed with ataxic cerebral palsy. 57 6
25981959 2015
4
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy. 6 61
31721007 2020
5
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. 6 61
31066025 2019
6
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 6 61
20603325 2010
7
Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. 61 57
14745083 2004
8
Clinical and MRI findings in spinocerebellar ataxia type 5. 57 61
10522902 1999
9
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. 57 61
7874171 1994
10
Abraham lincoln did not have type 5 spinocerebellar ataxia. 57
20513824 2010
11
Abraham lincoln may have had sca type 5. 57
20513822 2010
12
Abraham Lincoln did not have type 5 spinocerebellar ataxia. 57
19841386 2009
13
The defect in Marfan syndrome. 57
1852198 1991
14
Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5. 61
33797620 2021
15
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. 61
33801522 2021
16
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5. 61
33756041 2021
17
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2. 61
33318253 2020
18
βIII spectrin controls the planarity of Purkinje cell dendrites by modulating perpendicular axon-dendrite interactions. 61
33234719 2020
19
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy. 61
33188499 2020
20
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. 61
30898343 2019
21
Sporadic spinocerebellar ataxia, type 5: First report from India. 61
29322991 2018
22
Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation. 61
29116080 2017
23
β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization. 61
29078305 2017
24
βIII Spectrin Is Necessary for Formation of the Constricted Neck of Dendritic Spines and Regulation of Synaptic Activity in Neurons. 61
28576936 2017
25
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST. 61
28173092 2016
26
A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5. 61
27748352 2016
27
A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding. 61
26883385 2016
28
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study. 61
25142508 2014
29
β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. 61
24603075 2014
30
Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. 61
25057192 2014
31
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. 61
23838597 2014
32
A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. 61
22843192 2013
33
Spinocerebellar ataxia type 5. 61
21827906 2012
34
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. 61
23236289 2012
35
Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo. 61
22952455 2012
36
β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis. 61
22090485 2011
37
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila. 61
20368622 2010
38
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. 61
20371805 2010
39
Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. 61
20231455 2010
40
Geriatric neurogenetics: oxymoron or reality? 61
18413479 2008
41
Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. 61
18083066 2008
42
Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. 61
17159129 2006
43
Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia. 61
16606768 2006
44
A 700-kb physical and transcription map of the cervical cancer tumor suppressor gene locus on chromosome 11q13. 61
15885497 2005
45
[Spinocerebellar ataxia type 5 (SCA5)]. 61
10434652 1999
46
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13. 61
9341881 1997
47
A 3-Mb sequence-ready contig map encompassing the multiple disease gene cluster on chromosome 11q13.1-q13.3. 61
9405936 1997
48
Should spinocerebellar ataxia type 5 be called Lincoln ataxia? 61
9222211 1997

Variations for Spinocerebellar Ataxia 5

ClinVar genetic disease variations for Spinocerebellar Ataxia 5:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTBN2 NM_006946.3(SPTBN2):c.758T>C (p.Leu253Pro) SNV Pathogenic 5275 rs121918306 GRCh37: 11:66481116-66481116
GRCh38: 11:66713645-66713645
2 SPTBN2 NM_006946.3(SPTBN2):c.1596_1634del (p.Glu532_Met544del) Deletion Pathogenic 448482 rs1554985851 GRCh37: 11:66475006-66475044
GRCh38: 11:66707535-66707573
3 SPTBN2 NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp) Deletion Pathogenic 5274 GRCh37: 11:66472847-66472861
GRCh38: 11:66705376-66705390
4 SPTBN2 NM_006946.4(SPTBN2):c.5950-2A>C SNV Pathogenic 1034342 GRCh37: 11:66456653-66456653
GRCh38: 11:66689182-66689182
5 SPTBN2 NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) SNV Likely pathogenic 1029115 GRCh37: 11:66461755-66461755
GRCh38: 11:66694284-66694284
6 SPTBN2 NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) SNV Likely pathogenic 1029118 GRCh37: 11:66478461-66478461
GRCh38: 11:66710990-66710990
7 SPTBN2 NM_006946.3(SPTBN2):c.1877T>C (p.Leu626Pro) SNV Likely pathogenic 488611 rs1554984881 GRCh37: 11:66472870-66472870
GRCh38: 11:66705399-66705399
8 SPTBN2 NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) SNV Likely pathogenic 807500 rs541484241 GRCh37: 11:66478074-66478074
GRCh38: 11:66710603-66710603
9 SPTBN2 NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) SNV Likely pathogenic 928964 GRCh37: 11:66475653-66475653
GRCh38: 11:66708182-66708182
10 SPTBN2 NM_006946.3(SPTBN2):c.1307T>C (p.Met436Thr) SNV Likely pathogenic 450038 rs1554986345 GRCh37: 11:66475655-66475655
GRCh38: 11:66708184-66708184
11 SPTBN2 NM_006946.3(SPTBN2):c.1310G>A (p.Arg437Gln) SNV Likely pathogenic 546676 rs1554986337 GRCh37: 11:66475652-66475652
GRCh38: 11:66708181-66708181
12 SPTBN2 NM_006946.3(SPTBN2):c.470T>C (p.Ile157Thr) SNV Likely pathogenic 226117 rs875989881 GRCh37: 11:66482706-66482706
GRCh38: 11:66715235-66715235
13 SPTBN2 NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) Deletion Likely pathogenic 804247 rs1590955348 GRCh37: 11:66475684-66475686
GRCh38: 11:66708213-66708215
14 SPTBN2 NM_006946.3(SPTBN2):c.157+5G>A SNV Conflicting interpretations of pathogenicity 195271 rs150159444 GRCh37: 11:66488550-66488550
GRCh38: 11:66721079-66721079
15 SPTBN2 NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) SNV Conflicting interpretations of pathogenicity 915288 GRCh37: 11:66472774-66472774
GRCh38: 11:66705303-66705303
16 SPTBN2 NM_006946.4(SPTBN2):c.1438C>T SNV Conflicting interpretations of pathogenicity 64368 rs397514749 GRCh37: 11:66475202-66475202
GRCh38: 11:66707731-66707731
17 SPTBN2 NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His) SNV Uncertain significance 983471 GRCh37: 11:66468574-66468574
GRCh38: 11:66701103-66701103
18 SPTBN2 NM_006946.4(SPTBN2):c.6897-4A>G SNV Uncertain significance 878939 GRCh37: 11:66453915-66453915
GRCh38: 11:66686444-66686444
19 SPTBN2 NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly) SNV Uncertain significance 1027699 GRCh37: 11:66475091-66475091
GRCh38: 11:66707620-66707620
20 SPTBN2 NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) SNV Uncertain significance 1029114 GRCh37: 11:66472735-66472735
GRCh38: 11:66705264-66705264
21 SPTBN2 NM_006946.3(SPTBN2):c.1456G>A (p.Ala486Thr) SNV Uncertain significance 502388 rs143155918 GRCh37: 11:66475184-66475184
GRCh38: 11:66707713-66707713
22 SPTBN2 NM_006946.3(SPTBN2):c.6242G>A (p.Arg2081Gln) SNV Uncertain significance 305538 rs764407421 GRCh37: 11:66455772-66455772
GRCh38: 11:66688301-66688301
23 SPTBN2 NM_006946.4(SPTBN2):c.773-5T>C SNV Uncertain significance 1029117 GRCh37: 11:66478505-66478505
GRCh38: 11:66711034-66711034
24 SPTBN2 NM_006946.4(SPTBN2):c.3867+3G>T SNV Uncertain significance 1047922 GRCh37: 11:66466460-66466460
GRCh38: 11:66698989-66698989
25 SPTBN2 NM_006946.3(SPTBN2):c.3800C>T (p.Ala1267Val) SNV Uncertain significance 502387 rs148065361 GRCh37: 11:66466530-66466530
GRCh38: 11:66699059-66699059
26 SPTBN2 NM_006946.3(SPTBN2):c.6739T>C (p.Tyr2247His) SNV Uncertain significance 638445 rs201138924 GRCh37: 11:66454622-66454622
GRCh38: 11:66687151-66687151
27 SPTBN2 NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) SNV Uncertain significance 930223 GRCh37: 11:66454932-66454932
GRCh38: 11:66687461-66687461
28 SPTBN2 NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) SNV Uncertain significance 930559 GRCh37: 11:66455084-66455084
GRCh38: 11:66687613-66687613
29 SPTBN2 NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val) SNV Uncertain significance 930560 GRCh37: 11:66458816-66458816
GRCh38: 11:66691345-66691345
30 SPTBN2 NM_006946.4(SPTBN2):c.4986-5T>G SNV Uncertain significance 930717 GRCh37: 11:66460216-66460216
GRCh38: 11:66692745-66692745
31 SPTBN2 NM_006946.4(SPTBN2):c.901A>G (p.Met301Val) SNV Uncertain significance 930938 GRCh37: 11:66478225-66478225
GRCh38: 11:66710754-66710754
32 SPTBN2 NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser) SNV Uncertain significance 931441 GRCh37: 11:66453419-66453419
GRCh38: 11:66685948-66685948
33 SPTBN2 NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val) SNV Uncertain significance 931767 GRCh37: 11:66468334-66468334
GRCh38: 11:66700863-66700863
34 SPTBN2 NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala) SNV Uncertain significance 982666 GRCh37: 11:66453412-66453412
GRCh38: 11:66685941-66685941
35 SPTBN2 NM_006946.3(SPTBN2):c.657-7C>G SNV Uncertain significance 305596 rs758925003 GRCh37: 11:66481224-66481224
GRCh38: 11:66713753-66713753
36 SPTBN2 NM_006946.3(SPTBN2):c.6723-11G>A SNV Uncertain significance 305530 rs758435668 GRCh37: 11:66454649-66454649
GRCh38: 11:66687178-66687178
37 SPTBN2 NM_006946.3(SPTBN2):c.6374+15G>A SNV Uncertain significance 305536 rs777633339 GRCh37: 11:66455625-66455625
GRCh38: 11:66688154-66688154
38 SPTBN2 NM_006946.3(SPTBN2):c.5950-9C>T SNV Likely benign 305541 rs554781314 GRCh37: 11:66456660-66456660
GRCh38: 11:66689189-66689189
39 SPTBN2 NM_006946.3(SPTBN2):c.-22-10C>A SNV Likely benign 305605 rs200435327 GRCh37: 11:66488743-66488743
GRCh38: 11:66721272-66721272
40 SPTBN2 NM_006946.3(SPTBN2):c.1323C>T (p.Leu441=) SNV Likely benign 518243 rs764447133 GRCh37: 11:66475639-66475639
GRCh38: 11:66708168-66708168
41 SPTBN2 NM_006946.4(SPTBN2):c.6035-12C>T SNV Likely benign 877425 GRCh37: 11:66456332-66456332
GRCh38: 11:66688861-66688861
42 SPTBN2 NM_006946.4(SPTBN2):c.6723-14C>T SNV Benign 877376 GRCh37: 11:66454652-66454652
GRCh38: 11:66687181-66687181
43 SPTBN2 NM_006946.3(SPTBN2):c.1351-7G>A SNV Benign 305588 rs116078747 GRCh37: 11:66475296-66475296
GRCh38: 11:66707825-66707825
44 SPTBN2 NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) SNV Benign 130371 rs506028 GRCh37: 11:66468469-66468469
GRCh38: 11:66700998-66700998
45 SPTBN2 NM_006946.3(SPTBN2):c.7020G>A (p.Pro2340=) SNV Benign 305523 rs61741217 GRCh37: 11:66453495-66453495
GRCh38: 11:66686024-66686024
46 SPTBN2 NM_006946.3(SPTBN2):c.2473G>A (p.Gly825Ser) SNV Benign 487361 rs4930388 GRCh37: 11:66472274-66472274
GRCh38: 11:66704803-66704803
47 SPTBN2 NM_006946.3(SPTBN2):c.285C>T (p.Leu95=) SNV Benign 305599 rs34117933 GRCh37: 11:66483325-66483325
GRCh38: 11:66715854-66715854
48 SPTBN2 NM_006946.3(SPTBN2):c.585C>T (p.Asn195=) SNV Benign 130372 rs34775878 GRCh37: 11:66481633-66481633
GRCh38: 11:66714162-66714162
49 SPTBN2 NM_006946.3(SPTBN2):c.1351-7G>T SNV Benign 305587 rs116078747 GRCh37: 11:66475296-66475296
GRCh38: 11:66707825-66707825
50 SPTBN2 NM_006946.3(SPTBN2):c.6896+11G>A SNV Benign 305525 rs141969559 GRCh37: 11:66454454-66454454
GRCh38: 11:66686983-66686983

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 5:

72
# Symbol AA change Variation ID SNP ID
1 SPTBN2 p.Leu253Pro VAR_026767 rs121918306
2 SPTBN2 p.Arg480Trp VAR_070232 rs397514749

Expression for Spinocerebellar Ataxia 5

Search GEO for disease gene expression data for Spinocerebellar Ataxia 5.

Pathways for Spinocerebellar Ataxia 5

Pathways related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
2
Show member pathways
13.17 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
3
Show member pathways
13.08 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
4
Show member pathways
13.04 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
5
Show member pathways
12.7 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
6
Show member pathways
12.7 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
7 12.05 ITPR1 ANK3 ANK2 ANK1
8 11.81 SPTBN2 SLC1A6 ITPR1
9
Show member pathways
11.75 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
10 10.84 SPTBN1 SPTAN1
11 10.8 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1

GO Terms for Spinocerebellar Ataxia 5

Cellular components related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 SPTBN5 SPTBN4 SPTBN1 SPTAN1 SLC1A6 PLEK
2 cytoplasm GO:0005737 10.33 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
3 plasma membrane GO:0005886 10.28 SPTBN4 SPTBN1 SLC1A6 PLEK NFASC ITPR1
4 cytosol GO:0005829 10.26 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
5 cell junction GO:0030054 10.02 NFASC GRID2 EPB41 ANK3 ANK2
6 glutamatergic synapse GO:0098978 9.9 SPTBN2 SPTBN1 SLC1A6 GRID2
7 cytoskeleton GO:0005856 9.85 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
8 basolateral plasma membrane GO:0016323 9.81 EPB41 ANK3 ANK2 ANK1
9 Z disc GO:0030018 9.78 ANK3 ANK2 ANK1
10 postsynaptic membrane GO:0045211 9.78 GRID2 ANK3 ANK2 ANK1
11 sarcolemma GO:0042383 9.76 ANK3 ANK2 ANK1
12 sarcoplasmic reticulum GO:0016529 9.67 ITPR1 ANK3 ANK1
13 cell cortex GO:0005938 9.65 SPTBN4 SPTBN2 SPTB SPTAN1 EPB41
14 intercalated disc GO:0014704 9.63 SPTBN4 ANK3 ANK2
15 costamere GO:0043034 9.61 ANK3 ANK2
16 M band GO:0031430 9.61 SPTBN1 ANK2 ANK1
17 A band GO:0031672 9.59 ANK2 ANK1
18 parallel fiber to Purkinje cell synapse GO:0098688 9.58 SPTBN2 GRID2
19 cortical cytoskeleton GO:0030863 9.58 SPTBN5 SPTBN1 EPB41
20 axolemma GO:0030673 9.57 SPTBN1 ANK1
21 axon initial segment GO:0043194 9.54 SPTBN4 NFASC ANK3
22 node of Ranvier GO:0033268 9.5 SPTBN4 NFASC ANK3
23 spectrin-associated cytoskeleton GO:0014731 9.35 SPTBN1 SPTB EPB41 ANK3 ANK1
24 spectrin GO:0008091 9.1 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1

Biological processes related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.85 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
2 protein localization to plasma membrane GO:0072659 9.8 SPTBN4 SPTBN1 NFASC ANK3 ANK2 ANK1
3 axon guidance GO:0007411 9.8 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
4 cytoskeleton organization GO:0007010 9.76 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1 ANK3
5 cellular protein localization GO:0034613 9.63 SPTBN4 GRID2 ANK2
6 cortical actin cytoskeleton organization GO:0030866 9.56 PLEK EPB41
7 regulation of calcium ion transport GO:0051924 9.55 EPB41 ANK2
8 Golgi to plasma membrane protein transport GO:0043001 9.54 SPTBN1 ANK3
9 adult behavior GO:0030534 9.52 SPTBN4 SPTBN2
10 plasma membrane organization GO:0007009 9.51 SPTBN1 ANK3
11 transmission of nerve impulse GO:0019226 9.49 SPTBN4 NFASC
12 positive regulation of cation channel activity GO:2001259 9.48 ANK3 ANK2
13 membrane assembly GO:0071709 9.43 SPTBN1 ANK3
14 actin filament capping GO:0051693 9.43 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
15 negative regulation of calcium-mediated signaling GO:0050849 9.4 PLEK ITPR1
16 ER to Golgi vesicle-mediated transport GO:0006888 9.28 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1

Molecular functions related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.71 SPTBN2 SPTBN1 SPTAN1 ANK3
2 actin binding GO:0003779 9.7 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
3 phospholipid binding GO:0005543 9.67 SPTBN4 SPTBN2 SPTBN1 SPTB
4 calmodulin binding GO:0005516 9.63 SPTBN1 SPTAN1 EPB41
5 ion channel binding GO:0044325 9.61 ANK3 ANK2 ANK1
6 ankyrin binding GO:0030506 9.5 SPTBN4 SPTBN1 SPTB
7 cytoskeletal adaptor activity GO:0008093 9.43 ANK3 ANK2 ANK1
8 spectrin binding GO:0030507 9.43 SPTBN5 SPTBN4 EPB41 ANK3 ANK2 ANK1
9 structural constituent of cytoskeleton GO:0005200 9.28 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1 EPB41

Sources for Spinocerebellar Ataxia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....