Sptbn1 Gene Search Result

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Genes search result for Homo sapiens
(View Results for all Objects and Ontologies)

5 records found for search term Sptbn1

Refine Term:

Assembly:

Chr

Sort By:

Export

RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1351608	SPTBN1	spectrin beta, non-erythrocytic 1	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and ... (more) beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	2	54456327	54671446	Human	506	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
25330245	SPTBN1-AS1	SPTBN1 antisense RNA 1		2	54519317	54558705	Human		symbol , GTEx , COSMIC , name , Human Proteome Map , old_gene_symbol	gene, ncrna, VALIDATED [RefSeq]
150573772	SPTBN1-AS2	SPTBN1 antisense RNA 2		2	54664172	54680045	Human		symbol , GTEx , COSMIC , name , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]
16557038	SPTBN1-AS2	SPTBN1 antisense RNA 2					Human		symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, lncrna
731487	SPTBN2	spectrin beta, non-erythrocytic 2	Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gen ... (more) e which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]	11	66682497	66744682	Human	287	description	gene, protein-coding, REVIEWED [RefSeq]