SCAR16
MCID: SPN273
MIFTS: 44

Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16)

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 16

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 16:

Name: Spinocerebellar Ataxia, Autosomal Recessive 16 57 29 6 70
Scar16 57 58 72
Autosomal Recessive Spinocerebellar Ataxia 16 12 15
Autosomal Recessive Cerebellar Ataxia Due to Stub1 Deficiency 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 16 39
Spinocerebellar Ataxia Autosomal Recessive Type 16 58
Spinocerebellar Ataxia, Autosomal Recessive, 16 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebellar ataxia due to stub1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in second decade
variable age at onset (range 2 to 48 years)


HPO:

31
spinocerebellar ataxia, autosomal recessive 16:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 16

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-16 (SCAR16) is a progressive neurologic disorder characterized by truncal and limb ataxia, resulting in gait instability, associated with cerebellar atrophy on brain imaging. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, hyperreflexia of the lower limbs, and mild peripheral sensory neuropathy. Some patients have gonadal dysfunction or hypogonadism and/or cognitive deficits. The phenotype represents a spectrum or continuum of neurodegenerative features that may overlap with those of SCA48 (summary by Shi et al., 2013 and Ravel et al., 2021). (615768) (Updated 20-May-2021)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 16, also known as scar16, is related to spinocerebellar ataxia 48 and gordon holmes syndrome, and has symptoms including ataxia, truncal An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 16 is STUB1 (STIP1 Homology And U-Box Containing Protein 1), and among its related pathways/superpathways are Signaling by Hedgehog and TGF-beta receptor signaling activates SMADs. Affiliated tissues include eye, liver and cerebellum, and related phenotypes are dysarthria and cerebellar atrophy

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has material basis in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 16: 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. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 16

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 48 31.5 STUB1 JMJD8
2 gordon holmes syndrome 30.1 STUB1 ST13
3 autosomal dominant cerebellar ataxia 29.6 STUB1 RPS27A HSPA4
4 ataxia and polyneuropathy, adult-onset 10.2
5 hypogonadism 9.9
6 spinocerebellar ataxia 15 9.9 STUB1 ST13 JMJD8
7 spinal and bulbar muscular atrophy, x-linked 1 9.6 STUB1 ST13 HSPA4
8 pick disease of brain 9.5 ST13 RPS27A HSPA4
9 oculopharyngeal muscular dystrophy 9.5 RPS27A HSPA4
10 parkinson disease, late-onset 9.2 STUB1 RPS27A HSPBP1 HSPA4

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 16:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 16

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 16

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
3 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
4 truncal ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002078
5 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
6 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
7 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
8 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
11 progeroid facial appearance 58 31 frequent (33%) Frequent (79-30%) HP:0005328
12 abnormal motor evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0012896
13 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
14 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
17 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
18 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
19 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
20 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
21 head tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002346
22 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
23 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
24 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
25 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
26 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011098
27 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
28 hypoplasia of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0012110
29 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
30 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
31 hand tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002378
32 corpus callosum atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007371
33 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
34 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
35 parietal cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012104
36 spasticity 31 occasional (7.5%) HP:0001257
37 tremor 31 occasional (7.5%) HP:0001337
38 external ophthalmoplegia 31 occasional (7.5%) HP:0000544
39 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
40 type ii diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0005978
41 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
42 type i diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0100651
43 alopecia 58 31 very rare (1%) Very rare (<4-1%) HP:0001596
44 glaucoma 58 31 very rare (1%) Very rare (<4-1%) HP:0000501
45 infertility 58 31 very rare (1%) Very rare (<4-1%) HP:0000789
46 oculomotor apraxia 58 31 very rare (1%) Very rare (<4-1%) HP:0000657
47 pancreatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001733
48 saccadic smooth pursuit 58 31 very rare (1%) Very rare (<4-1%) HP:0001152
49 iridocyclitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001094
50 oligomenorrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0000876

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
cerebellar hypoplasia
cerebellar atrophy
limb ataxia
truncal ataxia
more
Genitourinary Bladder:
urinary urgency (in some patients)
urinary incontinence (in some patients)

Endocrine Features:
hypogonadotropic hypogonadism (in some females)
lack of secondary sexual characteristics (in 1 family)

Head And Neck Eyes:
nystagmus (in some patients)
external ophthalmoplegia (in some patients)

Neurologic Peripheral Nervous System:
sensory axonal neuropathy, distal, mild

Clinical features from OMIM®:

615768 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 16:


ataxia, truncal

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 16

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 16

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 16

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 16:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 16 29 STUB1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 16

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 16:

40
Eye, Liver, Cerebellum, Spinal Cord, Pons, Skeletal Muscle, Brain

Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:

(show all 26)
# Title Authors PMID Year
1
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia. 57 6 61
33417001 2021
2
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. 6 57
25258038 2014
3
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. 6 57
24719489 2014
4
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. 6 57
24742043 2014
5
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. 6 57
24113144 2014
6
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. 6 57
24312598 2013
7
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype. 61
33811518 2021
8
CHIP promotes Wnt signaling and regulates Arc stability by recruiting and polyubiquitinating LEF1 or Arc. 61
33431799 2021
9
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons. 61
33097556 2020
10
Spinocerebellar ataxia type 48: last but not least. 61
32342324 2020
11
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan. 61
32367277 2020
12
Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia. 61
32258232 2020
13
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. 61
31571321 2020
14
Changes in protein function underlie the disease spectrum in patients with CHIP mutations. 61
31619515 2019
15
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. 61
31126790 2019
16
Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system. 61
31189917 2019
17
Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus. 61
30605842 2019
18
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
19
Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16. 61
30206723 2018
20
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). 61
30381368 2018
21
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. 61
30058754 2018
22
Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16. 61
30222779 2018
23
Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16. 61
29679845 2018
24
Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP. 61
29317501 2018
25
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. 61
28396517 2017
26
SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE. 61
28593200 2016

Variations for Spinocerebellar Ataxia, Autosomal Recessive 16

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STUB1 NM_005861.4(STUB1):c.493C>T (p.Leu165Phe) SNV Pathogenic 127143 rs587777340 GRCh37: 16:731572-731572
GRCh38: 16:681572-681572
2 STUB1 NM_005861.4(STUB1):c.389A>T (p.Asn130Ile) SNV Pathogenic 127144 rs587777341 GRCh37: 16:731468-731468
GRCh38: 16:681468-681468
3 STUB1 NM_005861.4(STUB1):c.441G>T (p.Trp147Cys) SNV Pathogenic 127145 rs587777342 GRCh37: 16:731520-731520
GRCh38: 16:681520-681520
4 STUB1 , JMJD8 NM_005861.4(STUB1):c.737C>T (p.Thr246Met) SNV Pathogenic 127146 rs587777343 GRCh37: 16:732232-732232
GRCh38: 16:682232-682232
5 STUB1 NM_005861.4(STUB1):c.367C>G (p.Leu123Val) SNV Pathogenic 127147 rs587777344 GRCh37: 16:731446-731446
GRCh38: 16:681446-681446
6 STUB1 , JMJD8 NM_005861.4(STUB1):c.719T>C (p.Met240Thr) SNV Pathogenic 127148 rs587777345 GRCh37: 16:732214-732214
GRCh38: 16:682214-682214
7 STUB1 NM_005861.4(STUB1):c.235G>A (p.Ala79Thr) SNV Pathogenic 127149 rs587777346 GRCh37: 16:731227-731227
GRCh38: 16:681227-681227
8 STUB1 NM_005861.4(STUB1):c.236C>A (p.Ala79Asp) SNV Pathogenic 127150 rs587777347 GRCh37: 16:731228-731228
GRCh38: 16:681228-681228
9 STUB1 NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) SNV Pathogenic 162097 rs690016544 GRCh37: 16:731186-731186
GRCh38: 16:681186-681186
10 STUB1 , JMJD8 NM_005861.4(STUB1):c.646dup (p.Ser216fs) Duplication Pathogenic 436887 rs1555475283 GRCh37: 16:732047-732048
GRCh38: 16:682047-682048
11 STUB1 , JMJD8 NM_005861.4(STUB1):c.885dup (p.Glu296Ter) Duplication Pathogenic 623185 rs1567283195 GRCh37: 16:732461-732462
GRCh38: 16:682461-682462
12 STUB1 , JMJD8 NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del) Deletion Likely pathogenic 436888 rs1555475375 GRCh37: 16:732189-732194
GRCh38: 16:682189-682194
13 STUB1 , JMJD8 NM_005861.4(STUB1):c.*240T>C SNV Likely pathogenic 522378 rs1555475794 GRCh37: 16:732729-732729
GRCh38: 16:682729-682729
14 STUB1 , JMJD8 NM_005861.4(STUB1):c.721C>G (p.Arg241Gly) SNV Likely pathogenic 436889 rs760424025 GRCh37: 16:732216-732216
GRCh38: 16:682216-682216
15 STUB1 , JMJD8 NM_005861.4(STUB1):c.612+11C>G SNV Uncertain significance 1028430 GRCh37: 16:731891-731891
GRCh38: 16:681891-681891
16 STUB1 NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) SNV Uncertain significance 212325 rs146251364 GRCh37: 16:731512-731512
GRCh38: 16:681512-681512

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 STUB1 p.Ala79Asp VAR_071293 rs587777347
2 STUB1 p.Ala79Thr VAR_071294 rs587777346
3 STUB1 p.Leu123Val VAR_071295 rs587777344
4 STUB1 p.Asn130Ile VAR_071296 rs587777341
5 STUB1 p.Trp147Cys VAR_071297 rs587777342
6 STUB1 p.Leu165Phe VAR_071298 rs587777340
7 STUB1 p.Ser236Thr VAR_071299
8 STUB1 p.Met240Thr VAR_071300 rs587777345
9 STUB1 p.Thr246Met VAR_071301 rs587777343
10 STUB1 p.Glu28Lys VAR_072348
11 STUB1 p.Asn65Ser VAR_072349 rs690016544
12 STUB1 p.Lys145Gln VAR_072350 rs146251364

Expression for Spinocerebellar Ataxia, Autosomal Recessive 16

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 16.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 16

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 RPS27A PRKAR2B GPR161
2
Show member pathways
11.21 STUB1 RPS27A
3
Show member pathways
11.13 STUB1 HSPBP1 HSPA4
4
Show member pathways
11.09 HSPBP1 HSPA4
5 10.7 STUB1 HSPA4
6 9.62 ST13 HSPA4

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 16

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 8.62 RPS27A GPR161

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.16 STUB1 RPS27A
2 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 8.96 STUB1 HSPBP1
3 positive regulation of protein ubiquitination GO:0031398 8.62 STUB1 HSPBP1

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.26 STUB1 ST13
2 heat shock protein binding GO:0031072 9.16 STUB1 ST13
3 Hsp70 protein binding GO:0030544 8.96 STUB1 ST13
4 ubiquitin protein ligase binding GO:0031625 8.92 STUB1 RPS27A PRKAR2B HSPBP1

Sources for Spinocerebellar Ataxia, Autosomal Recessive 16

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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