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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPTBN2 Gene

protein-coding GIFtS: 57
GCID: GC11M066453

spectrin, beta, non-erythrocytic 2

(Previous name: spinocerebellar ataxia 5 )
(Previous symbol: SCA5)

Explore 7 diseases affiliated with
SPTBN2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Spectrin, Beta, Non-Erythrocytic 2¹ ²		Glutamate Transporter EAAT4-Associated Protein 41²
SCA5¹ ² ³ ⁵		Spectrin Beta Chain, Brain 2²
Beta-III Spectrin² ³		Spectrin Beta Chain, Non-Erythrocytic 2²
Spinocerebellar Ataxia 5 Protein² ³		Spectrin, Non-Erythroid Beta Chain 2²
Spinocerebellar Ataxia 5¹		KIAA0302³
GTRAP41²

External Ids:	HGNC: 11276¹	Entrez Gene: 6712²	Ensembl: ENSG00000173898⁷	OMIM: 604985⁵	UniProtKB: O15020³

Export aliases for SPTBN2 gene to outside databases

Previous GC identifers: GC11M068986 GC11M068134 GC11M066702 GC11M066228 GC11M066209 GC11M062780

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPTBN2:

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 gene 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)

UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020

Function: Probably plays an important role in neuronal membrane skeleton

Gene Wiki entry for SPTBN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPTBN2 gene promoter:
GR C/EBPbeta Spz1 AML1a Nkx2-2 Sox9 AP-4 LCR-F1 Roaz Arnt
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPTBN2 promoter sequence

Search SABiosciences Chromatin IP Primers for SPTBN2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTBN2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13 Ensembl cytogenetic band: 11q13.2 HGNC cytogenetic band: 11q13.2

SPTBN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTBN2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M066453: view genomic region (about GC identifiers)

Start:	66,452,719 bp from pter	End:	66,496,697 bp from pter
Size:	43,979 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020 (See protein sequence)

Recommended Name: Spectrin beta chain, non-erythrocytic 2

Size: 2390 amino acids; 271325 Da

Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex

Sequence caution: Sequence=BAA32700.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

2 PDB 3D structures from and Proteopedia for SPTBN2:

1WJM (3D)

1WYQ (3D)

Secondary accessions: O14872 O14873

Alternative splicing: 2 isoforms: O15020-1 O15020-2

Explore the universe of human proteins at neXtProt for SPTBN2: NX_O15020

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15020

SPTBN2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_008877.1

ENSEMBL proteins:

ENSP00000432568 ENSP00000433593 ENSP00000433631 ENSP00000311489

Reactome Protein details: O15020
Human Recombinant Protein Products:

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	Novus Biologicals SPTBN2 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0008091	spectrin	IDA	9826670
GO:0043025	neuronal cell body	IEA	--

SPTBN2 for ontologies About GeneDecksing

SPTBN2 Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SPTBN2 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002017 Spectrin_repeat

IPR001715 CH-domain

IPR001849 Pleckstrin_homology

IPR001589 Actinin_actin-bd_CS

IPR016343 Spectrin_bsu

Graphical View of Domain Structure for InterPro Entry O15020

ProtoNet protein and cluster: O15020

5 Blocks protein families:

IPB001589 Actin-binding

IPB001605 Spectrin pleckstrin homology domain signature

IPB001715 Calponin-like actin-binding

IPB001849 Pleckstrin-like

IPB002017 Spectrin repeat

UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020

Similarity: Belongs to the spectrin family

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 1 PH domain

Similarity: Contains 17 spectrin repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020

Function: Probably plays an important role in neuronal membrane skeleton

miRNA Products:		OriGene 3'-UTR Clone: SPTBN2 Browse MicroRNA Expression Plasmids
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		hsa-miR-34b* hsa-miR-676 hsa-miR-15a hsa-miR-503 hsa-miR-4299 hsa-miR-424 hsa-miR-298 hsa-miR-34b

		SwitchGear 3'UTR luciferase reporter plasmid: SPTBN2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTBN2 (see all 4) OriGene shRNA RFP: SPTBN2 OriGene siRNA: SPTBN2
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for SPTBN2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005200	structural constituent of cytoskeleton	TAS	9826670
GO:0005543	phospholipid binding	IEA	--

SPTBN2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SPTBN2:

Decreased TP53 protein express

Animal Models:
Mouse knock-out Sptbn2^tm1Mjac for SPTBN2
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Sptbn2):

behavior/neurological

growth/size

nervous system

SPTBN2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Epithelial Tight Junctions

0.36

MHC class II antigen presentation

MHC class II antigen presentation

1.00

Transport of antigen loaded MHC II molecules to surface

0.59

Interaction between L1 and Ankyrins

Interaction between L1 and Ankyrins

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTBN2

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Tight Junctions

5/9 Reactome Pathways for SPTBN2 (see all 9)

	L1CAM interactions
	Developmental Biology
	Interaction between L1 and Ankyrins
	Adaptive Immune System
	NCAM signaling for neurite out-growth

SPTBN2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SPTBN2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/56 Interacting proteins for SPTBN2 (O15020³ ENSP00000311489⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APC	P25054³, ENSP00000257430⁴	I2D: score=3 STRING: ENSP00000257430
ACTB	P60709³, ENSP00000349960⁴	I2D: score=1 STRING: ENSP00000349960
DCTN1	Q14203³, ENSP00000354791⁴	I2D: score=1 STRING: ENSP00000354791
ESR2	Q92731³, ENSP00000343925⁴	I2D: score=1 STRING: ENSP00000343925
SPTA1	P02549³, ENSP00000357130⁴	I2D: score=1 STRING: ENSP00000357130

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007411	axon guidance	TAS	--
GO:0007416	synapse assembly	IEA	--
GO:0008219	cell death	IEA	--
GO:0016079	synaptic vesicle exocytosis	--	--
GO:0016192	vesicle-mediated transport	IDA	9826670

SPTBN2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPTBN2
Search CenterWatch for drugs/clinical trials and news about SPTBN2 / SPTN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPTBN2 gene:

NM_006946.2

Unigene Cluster for SPTBN2:

Spectrin, beta, non-erythrocytic 2

Hs.26915 [show with all ESTs]

Unigene Representative Sequence: NM_006946

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000533211(uc001ojd.3) ENST00000529997(uc001ojc.1) ENST00000528051

ENST00000530775 ENST00000532650 ENST00000532902 ENST00000530665 ENST00000527010

ENST00000309996

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTBN2
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTBN2 (see all 21):
		hsa-miR-34b* hsa-miR-676 hsa-miR-15a hsa-miR-503 hsa-miR-4299 hsa-miR-424 hsa-miR-298 hsa-miR-34b

		SwitchGear 3'UTR luciferase reporter plasmid: SPTBN2 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: SPTBN2 (NM_006946)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTBN2

Additional cDNA sequence:

AB008567.1 AF026487.1 AF026488.1 AF079569.1 BC122522.1 BC131819.1 BC139788.1

5 DOTS entries:

DT.313402 DT.100776703 DT.95133313 DT.75115325 DT.95139921

24/140 AceView cDNA sequences (see all 140):

BU186168 BQ884172 BX441425 BE794034 CB155550 AL043817 BI258633 AF026488

BU150360 AI675430 BE791297 BM672103 AF026487 NM_006946 AB008567 AA338691

BM564196 AI744107 H28127 CD623489 AA725281 BM547570 AI478211 AA608890

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN2 (see all 12) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21a	·
SP1:
SP2:																													-
SP3:
SP4:
SP5:

ExUns:	21b	^	22	^	23	^	24a	·	24b	^	25	^	26a	·	26b	^	27	^	28	^	29	^	30a	·	30b	^	31a	·	31b
SP1:																							-
SP2:
SP3:
SP4:
SP5:																							-

ECgene alternative splicing isoforms for SPTBN2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPTBN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGAGGGCACT

About this image

SPTBN2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Primordial germ cell-like cells (Reconstitution of mo...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SPTBN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPTBN2

SOURCE GeneReport for Unigene cluster: Hs.26915

UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020

Tissue specificity: Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta

SABiosciences Custom PCR Arrays for SPTBN2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SPTBN2 gene from 4/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	SPTBN2⁶	--	71(a)	1 ↔ 1	GL343961.1(63815-102445)
zebrafish (Danio rerio)	Actinopterygii	sptbn2⁶	spectrin, beta, non-erythrocytic 2	66(a)	1 ↔ 1	5(39249369-39309302)
fruit fly (Drosophila melanogaster)	Insecta	&bgr;-Spec³	neuromuscular synaptic transmission actin binding	51(a)		--
worm (Caenorhabditis elegans)	Secernentea	unc-70³	spectrin beta chain	49(a) (best of 2)		V(6883990-6892937) --

ENSEMBL Gene Tree for SPTBN2 (if available)
TreeFam Gene Tree for SPTBN2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SPTBN2 gene

ACTN4² SPTA1² SYNE2² SPTBN4² SPTBN1² SPTB² SPTBN5² ACTN2²

SPTAN1² ACTN1² SYNE1² CLMN²

18/20 SIMAP similar genes for SPTBN2 using alignment to 5 protein entries: SPTN2_HUMAN (see all proteins) (see all similar genes):

HSpTB1 SPTBN1 PLEC SPTB MACF1 UTRN

DST DMD SPTBN4 CLMN ACF7 DKFZp434J0328

SPTBN3 SYNE1 SPNB4 ACTN4 ACTN3 ACTN1

SPTBN2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12421637^1,2	C,F,H	--	62780492(+)	`CTGTAG/ACAATG`	1	--	int¹		8	NS EA NA	698
rs12575562^1,2	C,F,H	--	62780910(+)	`CCCCGA/GACAAC`	1	--	ut3¹		5	NS EA NA	410
rs11828658^1,2	C,F,H,	--	62781107(+)	`CCCTCG/ACATGG`	1	--	ut3¹		2	NA WA	122
rs78894466^1,2		--	62782129(+)	`ACACCA/GGGCTG`	1	--	int¹		2	CSA WA	120
rs74699806^1,2	F,	--	62782276(+)	`CTCCTG/CCTCCG`	1	--	int¹		1	WA	118
rs79774424^1,2	F,	--	62783947(+)	`AAGGTT/CGCGTG`	1	--	int¹		1	WA	118
rs117394165^1,2	C,F,	--	62784531(+)	`AAGAAC/TAGGGA`	1	--	int¹		1	NA	120
rs112048780^1,2		--	62786440(+)	`GAGACG/AGAGTT`	1	--	int¹		1	CSA	2
rs112961673^1,2		--	62786826(+)	`TCCCCG/AGCATT`	1	--	int¹		2	CSA WA	120
rs471334^1,2	C,F,H	--	62789905(+)	`CTTTGG/ACCTGG`	2	/A /V	mis¹ ese³		10	NS EA NA	1314

HapMap Linkage Disequilibrium report for SPTBN2 (66452719 - 66496697 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SPTBN2: --
Human Gene Mutation Database (HGMD): SPTBN2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTBN2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SPTBN2 for disorders           About GeneDecksing

OMIM gene information: 604985
OMIM disorders: 600224
UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020

Defects in SPTBN2 are the cause of spinocerebellar ataxia type 5 (SCA5) [MIM:600224]. Spinocerebellar ataxia

is 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. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a

slowly progressive disorder with variable age at onset, ranging between 10 and 50 years

7 diseases for SPTBN2: About MalaCards

spinocerebellar ataxia spinocerebellar ataxia 5 ataxia neurodegeneration

cerebellar ataxia seizures neuronitis

3 diseases from the University of Copenhagen DISEASES database for SPTBN2:

Spinocerebellar ataxia dentatorubral-pallidoluysian atrophy Cerebellar ataxia

Human Genome Epidemiology (HuGE) Navigator: SPTBN2 (2 documents)

Export disorders for SPTBN2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SPTBN2 gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with SPTBN2)

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A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. (PubMed id 9826670)^{1, 2, 3, 9} Stankewich M.C.... Lux S.E. (1998)
Spectrin mutations cause spinocerebellar ataxia type 5. (PubMed id 16429157)^{1, 2, 3, 9} Ikeda Y.... Ranum L.P.W. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PubMed id 17940722)^{1, 9} Zuhlke C....Burk K. (2007)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Differential gene expression profile in PBMCs from sub jects with AERD and ATA: a gene marker for AERD. (PubMed id 22457146)¹ Shin S....Park C.S. (2012)
Shotgun proteomics and network analysis of ubiquitin-r elated proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)¹ Zhou J....Liang S. (2012)
Spinocerebellar ataxia type 5. (PubMed id 21827906)¹ Dick K.A....Ranum L.P. (2012)
Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)¹ Tsai Y.C....Cristea I.M. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6712	HGNC: 11276	AceView: SPTBN2	Ensembl:ENSG00000173898	euGenes: HUgn6712
ECgene: SPTBN2	H-InvDB: SPTBN2

(According to HUGE)
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HUGE: KIAA0302

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SPTBN2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPTBN2

Intellectual Property for SPTBN2 gene
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Patent Information for SPTBN2 gene:
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spectrin, beta, non-erythrocytic 2

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spectrin, beta, non-erythrocytic 2

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