SCA13
MCID: SPN311
MIFTS: 46

Spinocerebellar Ataxia 13 (SCA13)

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

Aliases & Classifications for Spinocerebellar Ataxia 13

MalaCards integrated aliases for Spinocerebellar Ataxia 13:

Name: Spinocerebellar Ataxia 13 58 54 76 30 13 6 74
Spinocerebellar Ataxia Type 13 12 25 54 60 15
Sca13 58 25 54 60 76
Cerebellar Ataxia, Autosomal Dominant with Mental Retardation 54
Autosomal Dominant Cerebellar Ataxia with Mental Retardation 54
Ataxia, Spinocerebellar, Type 13 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 13
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slow disease progression
variable age at onset, ranging from childhood to late adulthood


HPO:

33
spinocerebellar ataxia 13:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Kcnc3 pathogenic variants appear to be fully penetrant in the families described...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 13

NIH Rare Diseases : 54 Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias (SCA), a group of neurological diseases that causes degeneration of the brain and spinal cord. The age when symptoms begin and the type and severity of symptoms of SCA13 can be different from person to person even in the same family. In almost every case, the disease progresses very slowly and does not affect a person's life span. Symptoms most commonly begin in early childhood or later in midlife, but can range from infancy to 60. The childhood forms is often least progressive, but may also include mild to moderate learning problems, taking longer to learn to crawl, walk, or run (delayed development of motor skills), and seizures. The main symptoms of SCA13 include difficulties coordinating movements (ataxia), especially walking; abnormal eye movements (nystagmus); mild to moderate intellectual disability; and involuntary muscle jerks or twitches (myoclonic jerks). Other symptoms may include speech difficulty (dysarthria), difficulty eating (dysphagia), slowness of movements (bradykinesia), mild bladder problems, stiff and brisk deep tendon reflexes, and loss of the sense of vibration. SCA13 is caused by changes or mutations in the KCNC3 gene and it is inherited in an autosomal dominant manner. Since the symptoms of SCA13 can be similar to other types of SCA, genetic testing is used to confirm the diagnosis. In addition, unlike most of the other SCA's, a brain MRI will find loss of brain cells (neurons) in the part of the brain that helps control movement (cerebellum), but no noticeable loss of brain cells in the brain stem or the part of the brain important to higher levels of thinking (cerebral cortex). Treatment may include anti-seizure medications, special assistance in school, speech therapy and communication devices, and/or, later in the disease, aids to help with walking such as a canes and walkers. Normal activity and exercise are recommended. Maintaining a healthy weight may help keep a person walking without assistance longer. The use of alcohol may increase the severity of the uncoordinated movements (ataxia).

MalaCards based summary : Spinocerebellar Ataxia 13, also known as spinocerebellar ataxia type 13, is related to spinocerebellar ataxia, autosomal recessive 13 and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 13 is KCNC3 (Potassium Voltage-Gated Channel Subfamily C Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has material basis in mutation in the KCNC3 gene.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 13: 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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients.

Description from OMIM: 605259
GeneReviews: NBK1225

Related Diseases for Spinocerebellar Ataxia 13

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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 13 11.3
2 autosomal dominant cerebellar ataxia 10.4
3 ataxia and polyneuropathy, adult-onset 10.3
4 temporal lobe epilepsy 10.0
5 epilepsy 10.0
6 myoclonus 10.0
7 spasticity 10.0
8 aceruloplasminemia 10.0

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 13:



Diseases related to Spinocerebellar Ataxia 13

Symptoms & Phenotypes for Spinocerebellar Ataxia 13

Human phenotypes related to Spinocerebellar Ataxia 13:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
4 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
5 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
6 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
7 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
8 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
9 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
10 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
11 difficulty running 60 33 frequent (33%) Frequent (79-30%) HP:0009046
12 impaired visuospatial constructive cognition 60 33 frequent (33%) Frequent (79-30%) HP:0010794
13 titubation 60 33 frequent (33%) Frequent (79-30%) HP:0030187
14 impaired distal vibration sensation 60 33 frequent (33%) Frequent (79-30%) HP:0006886
15 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
16 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
17 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
18 myoclonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001336
19 clumsiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002312
20 optic disc pallor 60 33 occasional (7.5%) Occasional (29-5%) HP:0000543
21 torticollis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000473
22 urinary urgency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000012
23 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
24 hyperactive deep tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0006801
25 postural instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0002172
26 jerky ocular pursuit movements 60 33 occasional (7.5%) Occasional (29-5%) HP:0008003
27 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
28 abnormal facial shape 60 33 very rare (1%) Very rare (<4-1%) HP:0001999
29 short stature 60 33 very rare (1%) Very rare (<4-1%) HP:0004322
30 bradykinesia 60 33 very rare (1%) Very rare (<4-1%) HP:0002067
31 upgaze palsy 60 33 very rare (1%) Very rare (<4-1%) HP:0025331
32 hyperreflexia 60 33 Frequent (79-30%) HP:0001347
33 intellectual disability 33 HP:0001249
34 muscular hypotonia 33 HP:0001252
35 abnormal pyramidal sign 33 HP:0007256
36 progressive cerebellar ataxia 33 HP:0002073
37 limb dysmetria 33 HP:0002406
38 morphological abnormality of the pyramidal tract 33 HP:0002062

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
progressive cerebellar ataxia
cerebellar atrophy
more
Head And Neck Ears:
hearing impairment (1 patient)

Head And Neck Eyes:
nystagmus (1 patient)
optic atrophy (1 family)
jerky smooth pursuit (1 family)

Genitourinary Bladder:
bladder control problems (in some patients)

Clinical features from OMIM:

605259

UMLS symptoms related to Spinocerebellar Ataxia 13:


gait ataxia, abnormal pyramidal signs

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.8 KCNC2 KCNC3 KCNC4

Drugs & Therapeutics for Spinocerebellar Ataxia 13

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 13

Genetic Tests for Spinocerebellar Ataxia 13

Genetic tests related to Spinocerebellar Ataxia 13:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 13 30 KCNC3

Anatomical Context for Spinocerebellar Ataxia 13

MalaCards organs/tissues related to Spinocerebellar Ataxia 13:

42
Eye, Spinal Cord, Cerebellum, Brain, Testes, Cortex, Temporal Lobe

Publications for Spinocerebellar Ataxia 13

Articles related to Spinocerebellar Ataxia 13:

(show all 18)
# Title Authors Year
1
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity. ( 29949095 )
2018
2
SCA13 causes dominantly inherited non-progressive myoclonus ataxia. ( 28216058 )
2017
3
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. ( 28467418 )
2017
4
De novo point mutations in patients diagnosed with ataxic cerebral palsy. ( 25981959 )
2015
5
Spectrum of sleep disorders in a patient with spinocerebellar ataxia 13. ( 25406272 )
2015
6
Exome sequencing in undiagnosed inherited and sporadic ataxias. ( 25497598 )
2015
7
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. ( 25152487 )
2014
8
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. ( 23734863 )
2013
9
Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. ( 24116147 )
2013
10
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). ( 23215817 )
2013
11
Spinocerebellar ataxia 13 and 25. ( 21827913 )
2012
12
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). ( 21479265 )
2011
13
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
14
Sca13. ( 18592334 )
2008
15
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. ( 16501573 )
2006
16
Spinocerebellar ataxia with mental retardation (SCA13). ( 15895558 )
2005
17
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? ( 16135769 )
2005
18
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. ( 10820125 )
2000

Variations for Spinocerebellar Ataxia 13

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 13:

76
# Symbol AA change Variation ID SNP ID
1 KCNC3 p.Arg420His VAR_029530 rs104894699
2 KCNC3 p.Phe448Leu VAR_029531 rs104894700
3 KCNC3 p.Arg423His VAR_074197 rs797044872
4 KCNC3 p.Val535Met VAR_074199

ClinVar genetic disease variations for Spinocerebellar Ataxia 13:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNC3 NM_004977.2(KCNC3): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs104894699 GRCh37 Chromosome 19, 50826951: 50826951
2 KCNC3 NM_004977.2(KCNC3): c.1259G> A (p.Arg420His) single nucleotide variant Pathogenic rs104894699 GRCh38 Chromosome 19, 50323694: 50323694
3 KCNC3 NM_004977.2(KCNC3): c.1344C> A (p.Phe448Leu) single nucleotide variant Pathogenic rs104894700 GRCh37 Chromosome 19, 50826866: 50826866
4 KCNC3 NM_004977.2(KCNC3): c.1344C> A (p.Phe448Leu) single nucleotide variant Pathogenic rs104894700 GRCh38 Chromosome 19, 50323609: 50323609
5 KCNC3 NM_004977.2(KCNC3): c.188A> G (p.Asp63Gly) single nucleotide variant Benign rs375912738 GRCh37 Chromosome 19, 50832152: 50832152
6 KCNC3 NM_004977.2(KCNC3): c.188A> G (p.Asp63Gly) single nucleotide variant Benign rs375912738 GRCh38 Chromosome 19, 50328895: 50328895
7 KCNC3 NM_004977.2(KCNC3): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs797044872 GRCh37 Chromosome 19, 50826942: 50826942
8 KCNC3 NM_004977.2(KCNC3): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs797044872 GRCh38 Chromosome 19, 50323685: 50323685
9 KCNC3 NM_004977.2(KCNC3): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs879253883 GRCh37 Chromosome 19, 50826927: 50826927
10 KCNC3 NM_004977.2(KCNC3): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs879253883 GRCh38 Chromosome 19, 50323670: 50323670
11 KCNC3 NM_004977.2(KCNC3): c.1641G> A (p.Ser547=) single nucleotide variant Benign/Likely benign rs2301357 GRCh37 Chromosome 19, 50826569: 50826569
12 KCNC3 NM_004977.2(KCNC3): c.1641G> A (p.Ser547=) single nucleotide variant Benign/Likely benign rs2301357 GRCh38 Chromosome 19, 50323312: 50323312
13 KCNC3 NM_004977.2(KCNC3): c.1929C> T (p.Gly643=) single nucleotide variant Benign rs111744086 GRCh37 Chromosome 19, 50826281: 50826281
14 KCNC3 NM_004977.2(KCNC3): c.1929C> T (p.Gly643=) single nucleotide variant Benign rs111744086 GRCh38 Chromosome 19, 50323024: 50323024
15 KCNC3 NM_004977.2(KCNC3): c.315G> C (p.Thr105=) single nucleotide variant Benign rs368049323 GRCh37 Chromosome 19, 50832025: 50832025
16 KCNC3 NM_004977.2(KCNC3): c.315G> C (p.Thr105=) single nucleotide variant Benign rs368049323 GRCh38 Chromosome 19, 50328768: 50328768
17 KCNC3 NM_004977.2(KCNC3): c.2170+14C> T single nucleotide variant Benign/Likely benign rs189018316 GRCh37 Chromosome 19, 50823836: 50823836
18 KCNC3 NM_004977.2(KCNC3): c.2170+14C> T single nucleotide variant Benign/Likely benign rs189018316 GRCh38 Chromosome 19, 50320579: 50320579
19 KCNC3 NM_004977.2(KCNC3): c.1884G> A (p.Ala628=) single nucleotide variant Likely benign rs552133569 GRCh37 Chromosome 19, 50826326: 50826326
20 KCNC3 NM_004977.2(KCNC3): c.1884G> A (p.Ala628=) single nucleotide variant Likely benign rs552133569 GRCh38 Chromosome 19, 50323069: 50323069
21 KCNC3 NM_004977.2(KCNC3): c.11_12del (p.Ser4Cysfs) deletion Pathogenic rs1555781806 GRCh37 Chromosome 19, 50832328: 50832329
22 KCNC3 NM_004977.2(KCNC3): c.11_12del (p.Ser4Cysfs) deletion Pathogenic rs1555781806 GRCh38 Chromosome 19, 50329071: 50329072
23 KCNC3 NM_004977.2(KCNC3): c.991G> A (p.Gly331Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 50323962: 50323962
24 KCNC3 NM_004977.2(KCNC3): c.991G> A (p.Gly331Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 50827219: 50827219

Expression for Spinocerebellar Ataxia 13

Search GEO for disease gene expression data for Spinocerebellar Ataxia 13.

Pathways for Spinocerebellar Ataxia 13

Pathways related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 KCNC1 KCNC2 KCNC3 KCNC4
2 11.61 KCNC1 KCNC2 KCNC3 KCNC4
3
Show member pathways
11.09 KCNC1 KCNC2 KCNC3 KCNC4

GO Terms for Spinocerebellar Ataxia 13

Cellular components related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.62 KCNC1 KCNC2 KCNC3 KCNC4
2 dendrite GO:0030425 9.58 KCNC1 KCNC2 KCNC3
3 axon GO:0030424 9.56 KCNC1 KCNC2 KCNC3 KCNC4
4 cell cortex GO:0005938 9.48 HAX1 KCNC3
5 perikaryon GO:0043204 9.46 KCNC2 KCNC3
6 voltage-gated potassium channel complex GO:0008076 9.46 KCNC1 KCNC2 KCNC3 KCNC4
7 presynaptic membrane GO:0042734 9.43 KCNC2 KCNC3
8 axolemma GO:0030673 9.37 KCNC1 KCNC2
9 dendrite membrane GO:0032590 9.26 KCNC1 KCNC2 KCNC3 KCNC4
10 neuronal cell body membrane GO:0032809 8.92 KCNC1 KCNC2 KCNC3 KCNC4

Biological processes related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 KCNC1 KCNC2 KCNC3 KCNC4
2 transmembrane transport GO:0055085 9.81 KCNC1 KCNC2 KCNC3 KCNC4
3 protein homooligomerization GO:0051260 9.56 KCNC1 KCNC2 KCNC3 KCNC4
4 response to toxic substance GO:0009636 9.55 KCNC1 KCNC2
5 protein tetramerization GO:0051262 9.54 KCNC1 KCNC3
6 positive regulation of potassium ion transmembrane transport GO:1901381 9.49 KCNC1 KCNC2
7 response to amine GO:0014075 9.48 KCNC1 KCNC2
8 positive regulation of voltage-gated potassium channel activity GO:1903818 9.46 KCNC1 KCNC2
9 regulation of ion transmembrane transport GO:0034765 9.46 KCNC1 KCNC2 KCNC3 KCNC4
10 regulation of presynaptic membrane potential GO:0099505 9.43 KCNC1 KCNC2
11 response to light intensity GO:0009642 9.4 KCNC1 KCNC2
12 globus pallidus development GO:0021759 9.37 KCNC1 KCNC2
13 response to nerve growth factor GO:1990089 9.32 KCNC1 KCNC2
14 potassium ion transport GO:0006813 9.26 KCNC1 KCNC2 KCNC3 KCNC4
15 potassium ion transmembrane transport GO:0071805 8.92 KCNC1 KCNC2 KCNC3 KCNC4

Molecular functions related to Spinocerebellar Ataxia 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.56 KCNC1 KCNC2 KCNC3 KCNC4
2 potassium channel activity GO:0005267 9.46 KCNC1 KCNC2 KCNC3 KCNC4
3 ion channel binding GO:0044325 9.37 KCNC1 KCNC2
4 voltage-gated ion channel activity involved in regulation of presynaptic membrane potential GO:0099508 9.32 KCNC1 KCNC2
5 voltage-gated potassium channel activity GO:0005249 9.26 KCNC1 KCNC2 KCNC3 KCNC4
6 delayed rectifier potassium channel activity GO:0005251 8.92 KCNC1 KCNC2 KCNC3 KCNC4

Sources for Spinocerebellar Ataxia 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
47 MGI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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