Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization. 29078305

2018

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding. 26883385

2016

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 AlteredExpression BEFREE β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. 24603075

2015

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR De novo point mutations in patients diagnosed with ataxic cerebral palsy. 25981959

2015

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE To date, four families with spinocerebellar ataxia type 5 (SCA5) with four distinct mutations in the spectrin, beta, nonerythrocytic 2 gene (SPTBN2) have been reported worldwide. 25142508

2015

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation UNIPROT Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving β-III spectrin (SPTBN2), has been described in 3 families. 22914369

2014

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. 25057192

2014

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving β-III spectrin (SPTBN2), has been described in 3 families. 22914369

2014

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. 22843192

2013

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker BEFREE In addition, the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits underlies a novel group of disorders, the neuronal spectrinopathies, which includes SCA5, SPARCA1, and a form of West syndrome. 23236289

2013

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE (2006) discovered that β-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in the American kindred and two additional independently reported SCA5 families. 21827906

2011

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR Interaction of beta-III spectrin with Arp1, a subunit of the dynactin-dynein complex, is also lost with the L253P substitution. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR Cell culture studies using beta-III spectrin with a mutation associated with SCA5 (L253P) reveal that mutant protein, instead of being found at the cell membrane, appears trapped in the cytoplasm associated with the Golgi apparatus. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR A mouse lacking full-length beta-III spectrin has a phenotype closely mirroring symptoms of SCA5 patients. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 AlteredExpression BEFREE To investigate the molecular basis of SCA5, we established a series of transgenic Drosophila models that express human beta-III-spectrin or fly beta-spectrin proteins containing SCA5 mutations. 20368622

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker MGD Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. 20371805

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker MGD Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. 20231455

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in beta-III spectrin. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR These data provide evidence for a dominant-negative effect of an SCA5 mutation and show for the first time that trafficking of both beta-III spectrin and EAAT4 from the Golgi is disrupted through failure of the L253P mutation to interact with Arp1. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR Incubation at lower temperature (25 degrees C) rescues L253P beta-III spectrin interaction with Arp1 and normal protein trafficking to the membrane. 20603325

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker BEFREE Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. 20371805

2010

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker MGD Mutations in SPTBN2, the gene encoding beta-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor coordination. 20371805

2010