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GENE - TERM ANNOTATION REPORT

RGD ID: 3751
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sptbn2
Name: spectrin, beta, non-erythrocytic 2
Acc ID: DOID:0080058
Term: autosomal recessive spinocerebellar ataxia 14
Definition: 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. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23236289 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Sptbn2 ISOSPTBN2 (Homo sapiens)7240710OMIM  
Sptbn2 ISOSPTBN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related conditionPMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29196973 PMID:29590070
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