SCA11
MCID: SPN305
MIFTS: 44

Spinocerebellar Ataxia 11 (SCA11)

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 11

MalaCards integrated aliases for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 57 20 72 13 70
Spinocerebellar Ataxia Type 11 12 25 20 58 29 6 15
Sca11 57 25 20 58 72
Ataxia, Spinocerebellar, Type 11 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 11
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM®:

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

Miscellaneous:
onset in third or fourth decades


HPO:

31
spinocerebellar ataxia 11:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


GeneReviews:

25
Penetrance The ttbk2 pathogenic variants in the six families described to date appear to be fully penetrant, although a number of at-risk relatives are younger than the typical age of onset. to date, no non-penetrant pathogenic variants have been identified in older individuals.

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050961
OMIM® 57 604432
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C1858351
Orphanet 58 ORPHA98767
MedGen 41 C1858351
UMLS 70 C1858351

Summaries for Spinocerebellar Ataxia 11

GARD : 20 Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements ( nystagmus ), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. Age of onset ranges from the early teens to the mid 20s and life span is normal. Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change ( mutation ) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.

MalaCards based summary : Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to spinocerebellar ataxia, autosomal recessive 11 and spinocerebellar ataxia 1. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has material basis in mutation in the TTBK2 gene.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 11: 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. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder.

More information from OMIM: 604432 PS164400
GeneReviews: NBK1757

Related Diseases for Spinocerebellar Ataxia 11

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 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 11 11.2
2 spinocerebellar ataxia 1 10.9
3 spinocerebellar ataxia 26 10.9
4 joubert syndrome 21 10.2 CEP97 CEP164
5 joubert syndrome 23 10.1 CEP97 CCP110
6 nephronophthisis 12 10.1 CEP83 CEP164
7 ataxia and polyneuropathy, adult-onset 10.1
8 dentatorubral-pallidoluysian atrophy 10.1
9 dystonia 10.1
10 peripheral nervous system disease 10.1
11 neuropathy 10.1
12 pathologic nystagmus 10.1
13 cerebellar degeneration 10.1
14 dysphagia 10.1
15 spinocerebellar degeneration 10.1
16 spinocerebellar ataxia 30 10.0 TTBK2 ATXN10
17 joubert syndrome 24 10.0 IFT88 CEP164
18 joubert syndrome 5 10.0 CEP97 CCP110
19 cone-rod dystrophy 20 10.0 CEP97 CEP89
20 autosomal dominant cerebellar ataxia 9.9
21 mosaic variegated aneuploidy syndrome 9.9 CEP97 CEP89 CCP110
22 nephronophthisis 15 9.8 SCLT1 CEP83 CEP164 C2CD3
23 spinocerebellar ataxia 15 9.8 TTBK2 ATXN10
24 senior-loken syndrome 1 9.7 IFT88 CEP97 CEP164 CCP110
25 primary autosomal recessive microcephaly 9.7 TTBK1 IFT88 CEP164 CCP110
26 bardet-biedl syndrome 9.5 SCLT1 IFT88 CEP97 CEP164 CCP110
27 orofaciodigital syndrome i 9.3 IFT88 CEP97 CEP89 CEP83 CEP164 CCP110
28 cone-rod dystrophy 2 9.3 SCLT1 FBF1 CEP89 CEP83 C2CD3
29 orofaciodigital syndrome 9.3 SCLT1 IFT88 CEP89 CEP83 CEP164 C2CD3
30 asphyxiating thoracic dystrophy 9.2 IFT88 FBF1 CEP83 CEP164 CCP110 C2CD3
31 nephronophthisis 18 9.2 TTBK2 SCLT1 FBF1 CEP89 CEP83 CEP164
32 fundus dystrophy 9.2 SCLT1 IFT88 CEP97 CEP83 CEP164 CCP110
33 primary ciliary dyskinesia 8.8 SCLT1 IFT88 FBF1 CEP89 CEP83 CEP164
34 joubert syndrome 1 8.5 TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
35 nephronophthisis 8.3 TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
36 meckel syndrome, type 1 8.2 TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 11:



Diseases related to Spinocerebellar Ataxia 11

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Human phenotypes related to Spinocerebellar Ataxia 11:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
3 gait imbalance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002141
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
6 horizontal nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000666
7 jerky ocular pursuit movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0008003
8 vertical nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010544
9 abnormal pyramidal sign 58 31 very rare (1%) Very rare (<4-1%) HP:0007256
10 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
11 peripheral neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0009830
12 hyperreflexia 31 HP:0001347
13 nystagmus 31 HP:0000639
14 cerebellar atrophy 31 HP:0001272

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
cerebellar atrophy
progressive cerebellar ataxia

Head And Neck Eyes:
nystagmus

Clinical features from OMIM®:

604432 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 C2CD3 CCP110 FBF1 IFT88 SCLT1 TTBK2

Drugs & Therapeutics for Spinocerebellar Ataxia 11

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 11

Genetic Tests for Spinocerebellar Ataxia 11

Genetic tests related to Spinocerebellar Ataxia 11:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 11 29 TTBK2

Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

(show all 27)
# Title Authors PMID Year
1
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 57 6 25 61
18037885 2007
2
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. 25 57
10417284 1999
3
Spinocerebellar Ataxia Type 11 6 61
20301723 2008
4
First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features. 61 25
31485862 2020
5
Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. 25 61
30532139 2018
6
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. 25 61
27165044 2017
7
The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. 25 61
23141541 2012
8
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. 25 61
20667868 2010
9
Spinocerebellar ataxia type 11 in the Chinese Han population. 61 25
19768375 2010
10
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration. 25
29409526 2018
11
Timing, rates and spectra of human germline mutation. 25
26656846 2016
12
Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1. 25
25673844 2015
13
Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2. 25
22814243 2012
14
Missense exchanges in the TTBK2 gene mutated in SCA11. 25
19533200 2009
15
Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. 61
32424773 2021
16
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice. 61
33228809 2020
17
The crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor. 61
32133995 2020
18
TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. 61
31934864 2020
19
Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation. 61
31455668 2019
20
Tau Tubulin Kinase 1 (TTBK1), a new player in the fight against neurodegenerative diseases. 61
30342424 2019
21
Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2. 61
27607061 2016
22
TTBK2: a tau protein kinase beyond tau phosphorylation. 61
25950000 2015
23
Tau-tubulin kinase. 61
24808823 2014
24
Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2. 61
23942339 2013
25
Spinocerebellar ataxia type 11. 61
21827911 2012
26
TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. 61
21548880 2011
27
Clinical and genetic analysis of spinocerebellar ataxia type 11. 61
18418680 2008

Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTBK2 NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) Duplication Pathogenic 847 rs80356538 GRCh37: 15:43069308-43069309
GRCh38: 15:42777110-42777111
2 TTBK2 NM_173500.4(TTBK2):c.1285_1286GA[1] (p.Glu429fs) Microsatellite Pathogenic 848 rs80356539 GRCh37: 15:43069350-43069351
GRCh38: 15:42777152-42777153
3 TTBK2 NM_173500.4(TTBK2):c.1304_1305GA[1] (p.Asp436fs) Microsatellite Pathogenic 41375 rs318240735 GRCh37: 15:43069331-43069332
GRCh38: 15:42777133-42777134
4 TTBK2 NM_173500.4(TTBK2):c.*744G>A SNV Uncertain significance 315965 rs769283772 GRCh37: 15:43037249-43037249
GRCh38: 15:42745051-42745051
5 TTBK2 NM_173500.4(TTBK2):c.*967G>A SNV Uncertain significance 315962 rs569220743 GRCh37: 15:43037026-43037026
GRCh38: 15:42744828-42744828
6 TTBK2 NM_173500.4(TTBK2):c.*604T>C SNV Uncertain significance 315968 rs886051161 GRCh37: 15:43037389-43037389
GRCh38: 15:42745191-42745191
7 TTBK2 NM_173500.4(TTBK2):c.*580T>A SNV Uncertain significance 315971 rs544516599 GRCh37: 15:43037413-43037413
GRCh38: 15:42745215-42745215
8 TTBK2 NM_173500.4(TTBK2):c.-68+15C>G SNV Uncertain significance 316000 rs886051163 GRCh37: 15:43212621-43212621
GRCh38: 15:42920423-42920423
9 TTBK2 NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro) SNV Uncertain significance 315991 rs756629999 GRCh37: 15:43067401-43067401
GRCh38: 15:42775203-42775203
10 TTBK2 NM_173500.4(TTBK2):c.2295G>T (p.Leu765=) SNV Uncertain significance 315985 rs751381521 GRCh37: 15:43045149-43045149
GRCh38: 15:42752951-42752951
11 TTBK2 NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys) SNV Uncertain significance 315994 rs758352842 GRCh37: 15:43069278-43069278
GRCh38: 15:42777080-42777080
12 TTBK2 NM_173500.4(TTBK2):c.*507T>G SNV Uncertain significance 315972 rs886051162 GRCh37: 15:43037486-43037486
GRCh38: 15:42745288-42745288
13 TTBK2 NM_173500.4(TTBK2):c.-279C>A SNV Uncertain significance 316004 rs866690514 GRCh37: 15:43212847-43212847
GRCh38: 15:42920649-42920649
14 TTBK2 NM_173500.4(TTBK2):c.*1153G>A SNV Uncertain significance 315961 rs781080005 GRCh37: 15:43036840-43036840
GRCh38: 15:42744642-42744642
15 TTBK2 NM_173500.4(TTBK2):c.*847T>C SNV Uncertain significance 315964 rs567667407 GRCh37: 15:43037146-43037146
GRCh38: 15:42744948-42744948
16 TTBK2 NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys) SNV Uncertain significance 315986 rs767399781 GRCh37: 15:43045153-43045153
GRCh38: 15:42752955-42752955
17 TTBK2 NM_173500.4(TTBK2):c.-130G>C SNV Uncertain significance 316001 rs886051164 GRCh37: 15:43212698-43212698
GRCh38: 15:42920500-42920500
18 TTBK2 NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly) SNV Uncertain significance 315976 rs777159553 GRCh37: 15:43038301-43038301
GRCh38: 15:42746103-42746103
19 TTBK2 NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp) Deletion Uncertain significance 634639 rs1566996154 GRCh37: 15:43038127-43038144
GRCh38: 15:42745929-42745946
20 TTBK2 NM_173500.4(TTBK2):c.*548C>T SNV Uncertain significance 884239 GRCh37: 15:43037445-43037445
GRCh38: 15:42745247-42745247
21 TTBK2 NM_173500.4(TTBK2):c.*536T>C SNV Uncertain significance 884240 GRCh37: 15:43037457-43037457
GRCh38: 15:42745259-42745259
22 TTBK2 NM_173500.4(TTBK2):c.-321C>A SNV Uncertain significance 884365 GRCh37: 15:43212889-43212889
GRCh38: 15:42920691-42920691
23 TTBK2 NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn) SNV Uncertain significance 886269 GRCh37: 15:43038189-43038189
GRCh38: 15:42745991-42745991
24 TTBK2 NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) SNV Uncertain significance 886271 GRCh37: 15:43038244-43038244
GRCh38: 15:42746046-42746046
25 TTBK2 NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=) SNV Uncertain significance 886272 GRCh37: 15:43038296-43038296
GRCh38: 15:42746098-42746098
26 TTBK2 NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys) SNV Uncertain significance 886333 GRCh37: 15:43069401-43069401
GRCh38: 15:42777203-42777203
27 TTBK2 NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys) SNV Uncertain significance 886334 GRCh37: 15:43075641-43075641
GRCh38: 15:42783443-42783443
28 TTBK2 NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys) SNV Uncertain significance 886335 GRCh37: 15:43102934-43102934
GRCh38: 15:42810736-42810736
29 TTBK2 NM_173500.4(TTBK2):c.*1243C>T SNV Uncertain significance 887208 GRCh37: 15:43036750-43036750
GRCh38: 15:42744552-42744552
30 TTBK2 NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr) SNV Uncertain significance 887327 GRCh37: 15:43109244-43109244
GRCh38: 15:42817046-42817046
31 TTBK2 NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser) SNV Uncertain significance 887328 GRCh37: 15:43109262-43109262
GRCh38: 15:42817064-42817064
32 TTBK2 NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser) SNV Uncertain significance 887329 GRCh37: 15:43122264-43122264
GRCh38: 15:42830066-42830066
33 TTBK2 NM_173500.4(TTBK2):c.-125C>G SNV Uncertain significance 887516 GRCh37: 15:43212693-43212693
GRCh38: 15:42920495-42920495
34 TTBK2 NM_173500.4(TTBK2):c.-184G>C SNV Uncertain significance 887517 GRCh37: 15:43212752-43212752
GRCh38: 15:42920554-42920554
35 TTBK2 NM_173500.4(TTBK2):c.-282A>C SNV Uncertain significance 887518 GRCh37: 15:43212850-43212850
GRCh38: 15:42920652-42920652
36 TTBK2 NM_173500.4(TTBK2):c.*598G>A SNV Uncertain significance 888465 GRCh37: 15:43037395-43037395
GRCh38: 15:42745197-42745197
37 TTBK2 NM_173500.4(TTBK2):c.2928A>T (p.Pro976=) SNV Uncertain significance 888521 GRCh37: 15:43044516-43044516
GRCh38: 15:42752318-42752318
38 TTBK2 NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val) SNV Uncertain significance 888522 GRCh37: 15:43045100-43045100
GRCh38: 15:42752902-42752902
39 TTBK2 NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser) SNV Uncertain significance 983012 GRCh37: 15:43067833-43067833
GRCh38: 15:42775635-42775635
40 TTBK2 NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) SNV Uncertain significance 315977 rs576737530 GRCh37: 15:43038310-43038310
GRCh38: 15:42746112-42746112
41 TTBK2 NM_173500.4(TTBK2):c.*953A>G SNV Uncertain significance 887210 GRCh37: 15:43037040-43037040
GRCh38: 15:42744842-42744842
42 TTBK2 NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=) SNV Uncertain significance 887268 GRCh37: 15:43038392-43038392
GRCh38: 15:42746194-42746194
43 TTBK2 NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) SNV Uncertain significance 425066 rs36104367 GRCh37: 15:43038006-43038006
GRCh38: 15:42745808-42745808
44 TTBK2 NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly) SNV Uncertain significance 1030321 GRCh37: 15:43044724-43044724
GRCh38: 15:42752526-42752526
45 TTBK2 NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) SNV Likely benign 315975 rs199635198 GRCh37: 15:43038185-43038185
GRCh38: 15:42745987-42745987
46 TTBK2 NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) SNV Likely benign 315992 rs200124857 GRCh37: 15:43067776-43067776
GRCh38: 15:42775578-42775578
47 TTBK2 NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp) SNV Likely benign 315998 rs200125366 GRCh37: 15:43109238-43109238
GRCh38: 15:42817040-42817040
48 TTBK2 NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) SNV Likely benign 586781 rs201662235 GRCh37: 15:43044423-43044423
GRCh38: 15:42752225-42752225
49 TTBK2 NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr) SNV Likely benign 805621 rs377620628 GRCh37: 15:43044464-43044464
GRCh38: 15:42752266-42752266
50 TTBK2 NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=) SNV Likely benign 735667 rs201347313 GRCh37: 15:43038308-43038308
GRCh38: 15:42746110-42746110

Expression for Spinocerebellar Ataxia 11

Search GEO for disease gene expression data for Spinocerebellar Ataxia 11.

Pathways for Spinocerebellar Ataxia 11

GO Terms for Spinocerebellar Ataxia 11

Cellular components related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.18 TTBK2 TTBK1 SCLT1 IFT88 FKBP15 FBF1
2 cytosol GO:0005829 10.14 TTBK2 TTBK1 SCLT1 FBF1 CEP97 CEP89
3 cytoskeleton GO:0005856 9.96 TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
4 cell projection GO:0042995 9.88 TTBK2 IFT88 FKBP15 CCP110 C2CD3
5 centrosome GO:0005813 9.76 SCLT1 IFT88 FBF1 CEP97 CEP89 CEP164
6 microtubule organizing center GO:0005815 9.73 IFT88 CEP97 CEP89 CCP110
7 ciliary basal body GO:0036064 9.62 TTBK2 IFT88 FBF1 C2CD3
8 non-motile cilium GO:0097730 9.46 IFT88 CEP89
9 ciliary transition fiber GO:0097539 9.35 SCLT1 FBF1 CEP89 CEP83 CEP164
10 centriole GO:0005814 9.28 TTBK2 SCLT1 IFT88 FBF1 CEP89 CEP83

Biological processes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.81 TTBK2 SCLT1 IFT88 FBF1 CEP89 CEP83
2 cell projection organization GO:0030030 9.61 TTBK2 IFT88 FBF1 CEP97 CEP89 CEP83
3 non-motile cilium assembly GO:1905515 9.43 IFT88 CEP89 C2CD3
4 protein localization to centrosome GO:0071539 9.37 CEP83 C2CD3
5 negative regulation of cilium assembly GO:1902018 9.32 CEP97 CCP110
6 ciliary basal body-plasma membrane docking GO:0097711 9.28 TTBK2 SCLT1 FBF1 CEP97 CEP89 CEP83

Molecular functions related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tau protein binding GO:0048156 9.16 TTBK2 TTBK1
2 kinesin binding GO:0019894 8.96 TTBK2 IFT88
3 tau-protein kinase activity GO:0050321 8.62 TTBK2 TTBK1

Sources for Spinocerebellar Ataxia 11

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
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