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 Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in SPTBN2 have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). 31066025

2019

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE Two patients with infantile-onset SCA5 associated with another novel heterozygous SPTBN2 mutation have recently been reported; these SPTBN2 mutations, which may have a significant impact on protein function, were located in the second spectrin. 30898343

2019

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

2017

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE Here we investigated the molecular consequence of a SCA5 missense mutation that results in a L253P substitution in the actin-binding domain (ABD) of β-III-spectrin. 26883385

2016

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

2014

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE These results indicate that mutant β-III spectrin causes mislocalization and dysfunction of mGluR1α at dendritic spines and connects SCA5 with other disorders involving glutamatergic dysfunction and synaptic plasticity abnormalities. 25057192

2014

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE Two SCA5-associated mutations of β-III spectrin both reduce ankyrin R levels at the cell membrane. 24603075

2014

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation BEFREE Two deletions within the SPTBN2 SPEC domains (E532_M544del and L629_R634delinsW) have been previously reported to cause SCA5, but this is the first missense mutation in this region of the protein shown to likely be pathogenic. 22843192

2013

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

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

2012

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

2012

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 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 GeneticVariation BEFREE 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 GeneticVariation BEFREE Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in the SPBTN2 gene encoding beta-III-spectrin. 20368622

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 We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. 16429157

2006

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation UNIPROT We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. 16429157

2006

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 GeneticVariation CLINVAR

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker CTD_human

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 CausalMutation CLINVAR

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
1.000 Biomarker GENOMICS_ENGLAND