SCAR14
MCID: SPN261
MIFTS: 43

Spinocerebellar Ataxia, Autosomal Recessive 14 (SCAR14)

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, Autosomal Recessive 14

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 14:

Name: Spinocerebellar Ataxia, Autosomal Recessive 14 57 29 6 70
Sparca1 57 58 72
Scar14 57 58 72
Autosomal Recessive Spinocerebellar Ataxia 14 12 15
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1; Sparca1 57
Ataxie Spinocerebelleuse a Debut Infantile Avec Retard Psychomoteur 58
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome 58
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 58
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 57
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 72
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14 39
Autosomal Recessive Spinocerebellar Ataxia Type 14 58
Spinocerebellar Ataxia, Autosomal Recessive, 14 72
Sparca 58

Characteristics:

Orphanet epidemiological data:

58
spectrin-associated autosomal recessive cerebellar ataxia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
slowly progressive
two unrelated families have been reported (last curated august 2013)


HPO:

31
spinocerebellar ataxia, autosomal recessive 14:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 14

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 14: A form of spinocerebellar ataxia, 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. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 14, also known as sparca1, is related to autosomal recessive cerebellar ataxia and autosomal dominant cerebellar ataxia, and has symptoms including dysdiadochokinesis, gait ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 14 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are progressive cerebellar ataxia and hyperreflexia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has material basis in homozygous mutation in the SPTBN2 gene on chromosome 11q13.

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and impaired intellectual development (summary by Lise et al., 2012). (615386) (Updated 05-Apr-2021)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 14

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, Autosomal Recessive 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 28.7 SYNE1 SPTBN2 SPG7 COQ8A CACNA1A
2 autosomal dominant cerebellar ataxia 28.7 SPTBN2 SPG7 SACS ELOVL4 CACNA1A AFG3L2
3 spinocerebellar ataxia 18 10.2 SPTBN2 AFG3L2
4 spastic paraplegia 41, autosomal dominant 10.2 SPTBN2 ELOVL4
5 spastic ataxia 4 10.2 SACS AFG3L2
6 marinesco-sjogren syndrome 10.1 SPTBN2 COQ8A
7 episodic ataxia, type 6 10.1 SPTBN2 CACNA1A
8 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.1 COQ8A CACNA1A
9 complex hereditary spastic paraplegia 10.0 SPG7 SACS
10 spinocerebellar ataxia 38 10.0 ELOVL4 CACNA1A
11 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.0 SACS CACNA1A
12 optic atrophy 9 10.0 SPG7 AFG3L2
13 episodic ataxia, type 2 10.0 SPTBN2 CACNA1A
14 spastic ataxia 5 10.0 SPG7 AFG3L2
15 hemidystonia 10.0 CACNA1A ATP1A3
16 multifocal dystonia 10.0 CACNA1A ATP1A3
17 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0 SPTBN2 COQ8A CACNA1A
18 optic atrophy 5 10.0 SPG7 AFG3L2
19 spinocerebellar ataxia 28 10.0 SPG7 AFG3L2
20 spinocerebellar ataxia 30 9.9 SPTBN2 CACNA1A AFG3L2
21 migraine, familial hemiplegic, 2 9.9 CACNA1A ATP1A3
22 spinocerebellar ataxia 15 9.9 SPTBN2 ATP1A3 AFG3L2
23 spinocerebellar ataxia 5 9.9
24 ataxia and polyneuropathy, adult-onset 9.9
25 alacrima, achalasia, and mental retardation syndrome 9.9
26 hypotonia 9.9
27 tremor 9.9
28 quadriplegia 9.9 ELOVL4 ATP1A3
29 spastic paraplegia 7, autosomal recessive 9.9 SPG7 COQ8A AFG3L2
30 chronic progressive external ophthalmoplegia 9.9 SPG7 COQ8A AFG3L2
31 perrault syndrome 9.8 SPG7 DARS2 AFG3L2
32 spasticity 9.8 SPG7 SACS AFG3L2
33 ocular motility disease 9.8 SPG7 CACNA1A
34 choreatic disease 9.8 CACNA1A ATP1A3 AFG3L2
35 spastic paraparesis 9.8 SPG7 CACNA1A AFG3L2
36 familial hemiplegic migraine 9.7 CACNA1A ATP1A3
37 early myoclonic encephalopathy 9.7 SPG7 CACNA1A AFG3L2
38 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.7 SPG7 DARS2 COQ8A AFG3L2
39 optic nerve disease 9.7 SPG7 ATP1A3 AFG3L2
40 3-methylglutaconic aciduria, type iii 9.7 SPG7 SACS DARS2 AFG3L2
41 early infantile epileptic encephalopathy 9.6 SPTBN2 CACNA1A ATP1A3
42 hemiplegia 9.6 CACNA1A ATP1A3
43 kearns-sayre syndrome 9.6 SPG7 COQ8A CACNA1A AFG3L2
44 neuropathy 9.6 SPG7 SACS ATP1A3 AFG3L2
45 episodic ataxia 9.5 SPTBN2 DARS2 CACNA1A ATP1A3 AFG3L2
46 dentatorubral-pallidoluysian atrophy 9.4 SPTBN2 SPG7 SACS CACNA1A AFG3L2
47 aceruloplasminemia 9.3 SYNE1 SPTBN2 COQ8A CACNA1A AFG3L2
48 spastic ataxia 9.3 SPG7 SACS DARS2 COQ8A CACNA1A AFG3L2
49 spinocerebellar ataxia, autosomal recessive 8 9.2 SYNE1 SPTBN2 SACS COQ8A CACNA1A AFG3L2
50 disease of mental health 8.8 SYNE1 SPTBN2 SPG7 CACNA1A ATP1A3 AFG3L2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 14:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 14

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 14

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 14:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 hyperreflexia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001347
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
7 slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0001350
8 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
9 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
10 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
11 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
12 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
13 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
16 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
18 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
19 jerky ocular pursuit movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0008003
20 dysmetric saccades 58 31 occasional (7.5%) Occasional (29-5%) HP:0000641
21 hypometric saccades 31 occasional (7.5%) HP:0000571
22 cognitive impairment 31 HP:0100543
23 gait ataxia 31 HP:0002066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysmetria
dysdiadochokinesis
gait ataxia
cerebellar atrophy
intention tremor
more
Head And Neck Eyes:
nystagmus (in some patients)
hypometric saccades (in some patients)
abnormal eye movements (in some patients)
jerky smooth pursuit (in some patients)

Clinical features from OMIM®:

615386 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 14:


dysdiadochokinesis; gait ataxia; action tremor

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 AFG3L2 ARSA ATP1A3 CACNA1A COQ8A ELOVL4
2 muscle MP:0005369 9.35 AFG3L2 ATP1A3 CACNA1A COQ8A SYNE1
3 nervous system MP:0003631 9.28 AFG3L2 ARSA ATP1A3 CACNA1A COQ8A ELOVL4

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 14

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 14

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 14

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 14 29 SPTBN2

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 14

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 14:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 14

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 14:

# Title Authors PMID Year
1
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. 57 6
29196973 2018
2
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. 57 6
23838597 2014
3
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. 57 6
23236289 2012
4
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. 57
22781464 2012
5
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. 61
33801522 2021
6
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia. 61
31617442 2020
7
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. 61
31066025 2019
8
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype. 61
29795474 2018
9
Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al. 61
29795473 2018
10
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 61
28636205 2017

Variations for Spinocerebellar Ataxia, Autosomal Recessive 14

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 14:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTBN2 NM_006946.3(SPTBN2):c.1881C>A (p.Cys627Ter) SNV Pathogenic 64367 rs146859515 GRCh37: 11:66472866-66472866
GRCh38: 11:66705395-66705395
2 SPTBN2 NM_006946.3(SPTBN2):c.2864_2868del (p.Thr955fs) Deletion Pathogenic 64369 rs373728971 GRCh37: 11:66468702-66468706
GRCh38: 11:66701231-66701235
3 SPTBN2 NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys) SNV Pathogenic 1048078 GRCh37: 11:66475722-66475722
GRCh38: 11:66708251-66708251
4 SPTBN2 NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) SNV Likely pathogenic 1034341 GRCh37: 11:66461617-66461617
GRCh38: 11:66694146-66694146
5 SPTBN2 NM_006946.3(SPTBN2):c.7109G>A (p.Arg2370His) SNV Likely pathogenic 619974 rs145522851 GRCh37: 11:66453406-66453406
GRCh38: 11:66685935-66685935
6 SPTBN2 NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) SNV Uncertain significance 1029116 GRCh37: 11:66454559-66454559
GRCh38: 11:66687088-66687088
7 SPTBN2 NM_006946.3(SPTBN2):c.657-7C>G SNV Uncertain significance 305596 rs758925003 GRCh37: 11:66481224-66481224
GRCh38: 11:66713753-66713753
8 SPTBN2 NM_006946.3(SPTBN2):c.-22-10C>A SNV Uncertain significance 305605 rs200435327 GRCh37: 11:66488743-66488743
GRCh38: 11:66721272-66721272
9 SPTBN2 NM_006946.4(SPTBN2):c.6502-9C>T SNV Uncertain significance 878989 GRCh37: 11:66455127-66455127
GRCh38: 11:66687656-66687656
10 SPTBN2 NM_006946.3(SPTBN2):c.6374+15G>A SNV Uncertain significance 305536 rs777633339 GRCh37: 11:66455625-66455625
GRCh38: 11:66688154-66688154
11 SPTBN2 NM_006946.3(SPTBN2):c.6242G>A (p.Arg2081Gln) SNV Uncertain significance 305538 rs764407421 GRCh37: 11:66455772-66455772
GRCh38: 11:66688301-66688301
12 SPTBN2 NM_006946.3(SPTBN2):c.1653+13C>T SNV Uncertain significance 436855 rs376349935 GRCh37: 11:66474974-66474974
GRCh38: 11:66707503-66707503
13 SPTBN2 NM_006946.3(SPTBN2):c.4985+12G>A SNV Uncertain significance 305551 rs199692345 GRCh37: 11:66460429-66460429
GRCh38: 11:66692958-66692958
14 SPTBN2 NM_006946.3(SPTBN2):c.3800C>T (p.Ala1267Val) SNV Uncertain significance 502387 rs148065361 GRCh37: 11:66466530-66466530
GRCh38: 11:66699059-66699059
15 SPTBN2 NM_006946.3(SPTBN2):c.6723-11G>A SNV Uncertain significance 305530 rs758435668 GRCh37: 11:66454649-66454649
GRCh38: 11:66687178-66687178
16 SPTBN2 NM_006946.4(SPTBN2):c.6035-12C>T SNV Uncertain significance 877425 GRCh37: 11:66456332-66456332
GRCh38: 11:66688861-66688861
17 SPTBN2 NM_006946.3(SPTBN2):c.157+5G>A SNV Uncertain significance 195271 rs150159444 GRCh37: 11:66488550-66488550
GRCh38: 11:66721079-66721079
18 SPTBN2 NM_006946.3(SPTBN2):c.5950-9C>T SNV Uncertain significance 305541 rs554781314 GRCh37: 11:66456660-66456660
GRCh38: 11:66689189-66689189
19 SPTBN2 NM_006946.3(SPTBN2):c.1654-13G>A SNV Uncertain significance 305584 rs200980512 GRCh37: 11:66473321-66473321
GRCh38: 11:66705850-66705850
20 SPTBN2 NM_006946.4(SPTBN2):c.6897-4A>G SNV Uncertain significance 878939 GRCh37: 11:66453915-66453915
GRCh38: 11:66686444-66686444
21 SPTBN2 NM_006946.3(SPTBN2):c.6896+11G>A SNV Likely benign 305525 rs141969559 GRCh37: 11:66454454-66454454
GRCh38: 11:66686983-66686983
22 SPTBN2 NM_006946.3(SPTBN2):c.5950-8G>A SNV Likely benign 305540 rs201759431 GRCh37: 11:66456659-66456659
GRCh38: 11:66689188-66689188
23 SPTBN2 NM_006946.3(SPTBN2):c.1807+13C>T SNV Likely benign 305581 rs151122248 GRCh37: 11:66473142-66473142
GRCh38: 11:66705671-66705671
24 SPTBN2 NM_006946.3(SPTBN2):c.1351-7G>A SNV Likely benign 305588 rs116078747 GRCh37: 11:66475296-66475296
GRCh38: 11:66707825-66707825
25 SPTBN2 NM_006946.3(SPTBN2):c.4985+11C>T SNV Benign 305552 rs11227572 GRCh37: 11:66460430-66460430
GRCh38: 11:66692959-66692959
26 SPTBN2 NM_006946.3(SPTBN2):c.1351-7G>T SNV Benign 305587 rs116078747 GRCh37: 11:66475296-66475296
GRCh38: 11:66707825-66707825
27 SPTBN2 NM_006946.4(SPTBN2):c.6723-14C>T SNV Benign 877376 GRCh37: 11:66454652-66454652
GRCh38: 11:66687181-66687181
28 SPTBN2 NM_006946.3(SPTBN2):c.4279-8G>A SNV Benign 305557 rs369614446 GRCh37: 11:66461842-66461842
GRCh38: 11:66694371-66694371
29 SPTBN2 NM_006946.3(SPTBN2):c.885+5T>C SNV Benign 305595 rs114331192 GRCh37: 11:66478383-66478383
GRCh38: 11:66710912-66710912
30 SPTBN2 NM_006946.3(SPTBN2):c.6109C>T (p.Arg2037Cys) SNV not provided 585097 rs200529832 GRCh37: 11:66456246-66456246
GRCh38: 11:66688775-66688775
31 SPTBN2 NM_006946.3(SPTBN2):c.3929G>A (p.Arg1310His) SNV not provided 585098 rs201852582 GRCh37: 11:66466195-66466195
GRCh38: 11:66698724-66698724

Expression for Spinocerebellar Ataxia, Autosomal Recessive 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 14.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 14

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 SPTBN2 CACNA1A AFG3L2

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 14

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 SPG7 SACS DARS2 COQ8A AFG3L2
2 m-AAA complex GO:0005745 8.62 SPG7 AFG3L2

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to amyloid-beta GO:1904646 9.32 CACNA1A ATP1A3
2 cristae formation GO:0042407 9.26 SPG7 AFG3L2
3 mitochondrial calcium ion transmembrane transport GO:0006851 9.16 SPG7 AFG3L2
4 mitochondrial fusion GO:0008053 8.96 SPG7 AFG3L2
5 mitochondrial protein processing GO:0034982 8.62 SPG7 AFG3L2

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.35 SPG7 DARS2 COQ8A ATP1A3 AFG3L2
2 ATP-dependent peptidase activity GO:0004176 8.62 SPG7 AFG3L2

Sources for Spinocerebellar Ataxia, Autosomal Recessive 14

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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