SCA11
MCID: SPN305
MIFTS: 45

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 56 52 73 13 71
Spinocerebellar Ataxia Type 11 12 24 52 58 29 6 15
Sca11 56 24 52 58 73
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:

56
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:

24
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 56 604432
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1858351
Orphanet 58 ORPHA98767
MedGen 41 C1858351
UMLS 71 C1858351

Summaries for Spinocerebellar Ataxia 11

NIH Rare Diseases : 52 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 dysphagia and dysarthria

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 : 73 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 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 30)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 11 11.4
2 spinocerebellar ataxia 1 11.2
3 spinocerebellar ataxia 26 11.2
4 ataxia and polyneuropathy, adult-onset 10.4
5 autosomal dominant cerebellar ataxia 10.2
6 joubert syndrome 21 10.1 CEP97 CEP164
7 joubert syndrome 23 10.1 CEP97 CCP110
8 dentatorubral-pallidoluysian atrophy 10.1
9 spinocerebellar ataxia 4 10.1
10 dystonia 10.1
11 peripheral nervous system disease 10.1
12 neuropathy 10.1
13 pathologic nystagmus 10.1
14 cerebellar degeneration 10.1
15 dysphagia 10.1
16 spinocerebellar degeneration 10.1
17 joubert syndrome 24 9.8 IFT88 CEP164
18 spinocerebellar ataxia 30 9.7 TTBK2 ATXN10
19 nephronophthisis 15 9.7 SCLT1 CEP83 CEP164 C2CD3
20 primary autosomal recessive microcephaly 9.6 TTBK1 IFT88 CEP164 CCP110
21 bardet-biedl syndrome 9.5 IFT88 CEP97 CEP164 CCP110
22 senior-loken syndrome 1 9.3 IFT88 CEP97 CEP164 CCP110 C2CD3
23 orofaciodigital syndrome 9.1 SCLT1 IFT88 CEP89 CEP83 CEP164 C2CD3
24 orofaciodigital syndrome i 8.9 SCLT1 IFT88 CEP97 CEP89 CEP83 CEP164
25 fundus dystrophy 8.8 SCLT1 IFT88 CEP97 CEP83 CEP164 CCP110
26 nephronophthisis 18 8.6 TTBK2 SCLT1 FBF1 CEP89 CEP83 CEP164
27 primary ciliary dyskinesia 8.2 SCLT1 IFT88 FBF1 CEP89 CEP83 CEP164
28 joubert syndrome 1 7.8 TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
29 nephronophthisis 7.4 TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
30 meckel syndrome, type 1 7.4 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 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
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 peripheral neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0009830
11 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
12 nystagmus 31 HP:0000639
13 hyperreflexia 31 HP:0001347
14 cerebellar atrophy 31 HP:0001272

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
hyperreflexia
dysarthria
cerebellar atrophy
progressive cerebellar ataxia

Clinical features from OMIM:

604432

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

45
# 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, Testes

Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

(show all 28)
# Title Authors PMID Year
1
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 61 24 6 56
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. 56 24
10417284 1999
3
Spinocerebellar Ataxia Type 11 61 6
20301723 2008
4
First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features. 61 24
31485862 2020
5
Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. 24 61
30532139 2018
6
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. 24 61
27165044 2017
7
The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. 24 61
23141541 2012
8
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. 61 24
20667868 2010
9
Spinocerebellar ataxia type 11 in the Chinese Han population. 24 61
19768375 2010
10
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
11
Hereditary Ataxia Overview 6
20301317 1998
12
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration. 24
29409526 2018
13
Timing, rates and spectra of human germline mutation. 24
26656846 2016
14
Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1. 24
25673844 2015
15
Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2. 24
22814243 2012
16
Missense exchanges in the TTBK2 gene mutated in SCA11. 24
19533200 2009
17
Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. 61
32424773 2020
18
The crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor. 61
32133995 2020
19
TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. 61
31934864 2020
20
Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation. 61
31455668 2019
21
Tau Tubulin Kinase 1 (TTBK1), a new player in the fight against neurodegenerative diseases. 61
30342424 2019
22
Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2. 61
27607061 2016
23
TTBK2: a tau protein kinase beyond tau phosphorylation. 61
25950000 2015
24
Tau-tubulin kinase. 61
24808823 2014
25
Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2. 61
23942339 2013
26
Spinocerebellar ataxia type 11. 61
21827911 2012
27
TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. 61
21548880 2011
28
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 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTBK2 NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)duplication Pathogenic 847 rs80356538 15:43069308-43069309 15:42777110-42777111
2 TTBK2 NM_173500.4(TTBK2):c.1285_1286GA[1] (p.Glu429fs)short repeat Pathogenic 848 rs80356539 15:43069350-43069351 15:42777152-42777153
3 TTBK2 NM_173500.4(TTBK2):c.1304_1305GA[1] (p.Asp436fs)short repeat Pathogenic 41375 rs318240735 15:43069331-43069332 15:42777133-42777134
4 TTBK2 NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)SNV Conflicting interpretations of pathogenicity 315975 rs199635198 15:43038185-43038185 15:42745987-42745987
5 TTBK2 NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)SNV Conflicting interpretations of pathogenicity 315992 rs200124857 15:43067776-43067776 15:42775578-42775578
6 TTBK2 NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)SNV Uncertain significance 315985 rs751381521 15:43045149-43045149 15:42752951-42752951
7 TTBK2 NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)SNV Uncertain significance 315976 rs777159553 15:43038301-43038301 15:42746103-42746103
8 TTBK2 NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)SNV Uncertain significance 315986 rs767399781 15:43045153-43045153 15:42752955-42752955
9 TTBK2 NM_173500.4(TTBK2):c.-279C>ASNV Uncertain significance 316004 rs866690514 15:43212847-43212847 15:42920649-42920649
10 TTBK2 NM_173500.4(TTBK2):c.*744G>ASNV Uncertain significance 315965 rs769283772 15:43037249-43037249 15:42745051-42745051
11 TTBK2 NM_173500.4(TTBK2):c.*507T>GSNV Uncertain significance 315972 rs886051162 15:43037486-43037486 15:42745288-42745288
12 TTBK2 NM_173500.4(TTBK2):c.*1153G>ASNV Uncertain significance 315961 rs781080005 15:43036840-43036840 15:42744642-42744642
13 TTBK2 NM_173500.4(TTBK2):c.*967G>ASNV Uncertain significance 315962 rs569220743 15:43037026-43037026 15:42744828-42744828
14 TTBK2 NM_173500.4(TTBK2):c.*847T>CSNV Uncertain significance 315964 rs567667407 15:43037146-43037146 15:42744948-42744948
15 TTBK2 NM_173500.4(TTBK2):c.-68+15C>GSNV Uncertain significance 316000 rs886051163 15:43212621-43212621 15:42920423-42920423
16 TTBK2 NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)SNV Uncertain significance 315977 rs576737530 15:43038310-43038310 15:42746112-42746112
17 TTBK2 NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)SNV Uncertain significance 315991 rs756629999 15:43067401-43067401 15:42775203-42775203
18 TTBK2 NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)SNV Uncertain significance 315994 rs758352842 15:43069278-43069278 15:42777080-42777080
19 TTBK2 NM_173500.4(TTBK2):c.-130G>CSNV Uncertain significance 316001 rs886051164 15:43212698-43212698 15:42920500-42920500
20 TTBK2 NM_173500.4(TTBK2):c.*604T>CSNV Uncertain significance 315968 rs886051161 15:43037389-43037389 15:42745191-42745191
21 TTBK2 NM_173500.4(TTBK2):c.*580T>ASNV Uncertain significance 315971 rs544516599 15:43037413-43037413 15:42745215-42745215
22 TTBK2 NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)SNV Uncertain significance 886271 15:43038244-43038244 15:42746046-42746046
23 TTBK2 NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)SNV Uncertain significance 886272 15:43038296-43038296 15:42746098-42746098
24 TTBK2 NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)SNV Uncertain significance 887268 15:43038392-43038392 15:42746194-42746194
25 TTBK2 NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)SNV Uncertain significance 888521 15:43044516-43044516 15:42752318-42752318
26 TTBK2 NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)SNV Uncertain significance 888522 15:43045100-43045100 15:42752902-42752902
27 TTBK2 NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)SNV Uncertain significance 886333 15:43069401-43069401 15:42777203-42777203
28 TTBK2 NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)SNV Uncertain significance 886334 15:43075641-43075641 15:42783443-42783443
29 TTBK2 NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)SNV Uncertain significance 886335 15:43102934-43102934 15:42810736-42810736
30 TTBK2 NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)SNV Uncertain significance 887327 15:43109244-43109244 15:42817046-42817046
31 TTBK2 NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)SNV Uncertain significance 887328 15:43109262-43109262 15:42817064-42817064
32 TTBK2 NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)SNV Uncertain significance 887329 15:43122264-43122264 15:42830066-42830066
33 TTBK2 NM_173500.4(TTBK2):c.-125C>GSNV Uncertain significance 887516 15:43212693-43212693 15:42920495-42920495
34 TTBK2 NM_173500.4(TTBK2):c.-184G>CSNV Uncertain significance 887517 15:43212752-43212752 15:42920554-42920554
35 TTBK2 NM_173500.4(TTBK2):c.-282A>CSNV Uncertain significance 887518 15:43212850-43212850 15:42920652-42920652
36 TTBK2 NM_173500.4(TTBK2):c.-321C>ASNV Uncertain significance 884365 15:43212889-43212889 15:42920691-42920691
37 TTBK2 NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)deletion Uncertain significance 634639 rs1566996154 15:43038127-43038144 15:42745929-42745946
38 TTBK2 NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)SNV Uncertain significance 425066 rs36104367 15:43038006-43038006 15:42745808-42745808
39 TTBK2 NM_173500.4(TTBK2):c.*1243C>TSNV Uncertain significance 887208 15:43036750-43036750 15:42744552-42744552
40 TTBK2 NM_173500.4(TTBK2):c.*953A>GSNV Uncertain significance 887210 15:43037040-43037040 15:42744842-42744842
41 TTBK2 NM_173500.4(TTBK2):c.*598G>ASNV Uncertain significance 888465 15:43037395-43037395 15:42745197-42745197
42 TTBK2 NM_173500.4(TTBK2):c.*548C>TSNV Uncertain significance 884239 15:43037445-43037445 15:42745247-42745247
43 TTBK2 NM_173500.4(TTBK2):c.*536T>CSNV Uncertain significance 884240 15:43037457-43037457 15:42745259-42745259
44 TTBK2 NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)SNV Uncertain significance 886269 15:43038189-43038189 15:42745991-42745991
45 TTBK2 NM_173500.4(TTBK2):c.*185A>GSNV Likely benign 884242 15:43037808-43037808 15:42745610-42745610
46 TTBK2 NM_173500.4(TTBK2):c.*33A>CSNV Likely benign 884243 15:43037960-43037960 15:42745762-42745762
47 TTBK2 NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)SNV Likely benign 735667 15:43038308-43038308 15:42746110-42746110
48 TTBK2 NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)SNV Likely benign 805621 15:43044464-43044464 15:42752266-42752266
49 TTBK2 NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)SNV Likely benign 884308 15:43067832-43067832 15:42775634-42775634
50 TTBK2 NM_173500.4(TTBK2):c.*482C>GSNV Likely benign 315973 rs16957120 15:43037511-43037511 15:42745313-42745313

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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