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 regul... See more...

Aliases for SPTBN2 Gene

Aliases for SPTBN2 Gene

  • Spectrin Beta, Non-Erythrocytic 2 2 3 5
  • Spectrin Beta Chain, Non-Erythrocytic 2 3 4
  • Spinocerebellar Ataxia 5 Protein 3 4
  • Beta-III Spectrin 3 4
  • SCA5 3 4
  • Glutamate Transporter EAAT4-Associated Protein 41 3
  • Spectrin, Non-Erythroid Beta Chain 2 3
  • Spectrin Beta Chain, Brain 2 3
  • Spectrin Beta III Sigma 2 3
  • Spinocerebellar Ataxia 5 2
  • KIAA0302 4
  • GTRAP41 3
  • SCAR14 3

External Ids for SPTBN2 Gene

Previous HGNC Symbols for SPTBN2 Gene

  • SCA5

Previous GeneCards Identifiers for SPTBN2 Gene

  • GC11M068986
  • GC11M068134
  • GC11M066702
  • GC11M066228
  • GC11M066209
  • GC11M066453
  • GC11M062780

Summaries for SPTBN2 Gene

Entrez Gene Summary for SPTBN2 Gene

  • 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]

GeneCards Summary for SPTBN2 Gene

SPTBN2 (Spectrin Beta, Non-Erythrocytic 2) is a Protein Coding gene. Diseases associated with SPTBN2 include Spinocerebellar Ataxia 5 and Spinocerebellar Ataxia, Autosomal Recessive 14. Among its related pathways are Metabolism of proteins and RET signaling. Gene Ontology (GO) annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is SPTBN1.

UniProtKB/Swiss-Prot Summary for SPTBN2 Gene

Gene Wiki entry for SPTBN2 Gene

Additional gene information for SPTBN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPTBN2 Gene

Genomics for SPTBN2 Gene

GeneHancer (GH) Regulatory Elements for SPTBN2 Gene

Promoters and enhancers for SPTBN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J066743 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 502.9 -15.5 -15493 2.9 ZBTB40 EP300 NRF1 POLR2G PHF8 ZIC2 POLR2A ZBTB10 CLOCK AFF1 SPTBN2 C11orf80 lnc-SPTBN2-2 ENSG00000254855 EIF1AD RBM14 MRPL11 FIBP CNIH2 KLC2
GH11J066727 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 505.4 +1.0 1037 2.4 ZFX ZIC2 POLR2A ZNF263 ZBTB11 ZNF623 AFF1 ZBTB26 TARDBP SAP30 SPTBN2 lnc-RBM4B-4 PC SYT12 piR-61861-004
GH11J066675 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 +52.1 52121 4.2 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 POLR2A RBM4B lnc-RBM4-2 RBM14 RBM4 RAD9A CCS RCE1 SF3B2 ENSG00000245156 EIF1AD
GH11J066799 Enhancer 0.9 Ensembl ENCODE 16.4 -71.0 -70964 7.6 MEF2C ZNF384 ARNT MEF2B ASH2L IKZF1 STAT1 ATF2 TBX21 PBX3 C11orf80 ACTN3 SPTBN2 RCE1 RN7SL12P LRFN4 PC RHOD ENSG00000254510 CDK2AP2
GH11J066694 Enhancer 1.2 Ensembl ENCODE 12.2 +34.4 34368 1 ZNF217 CTCF NRF1 TCF12 TEAD4 REST ZNF263 GABPA AFF1 TARDBP piR-40773 SPTBN2 C11orf80 RCE1 ACTN3 ZDHHC24 LRFN4 PC RNU7-23P RNU1-84P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPTBN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPTBN2

Top Transcription factor binding sites by QIAGEN in the SPTBN2 gene promoter:
  • AML1a
  • AP-4
  • Arnt
  • C/EBPbeta
  • GR
  • LCR-F1
  • Nkx2-2
  • Roaz
  • Sox9
  • Spz1

Genomic Locations for SPTBN2 Gene

Genomic Locations for SPTBN2 Gene
chr11:66,682,496-66,729,237
(GRCh38/hg38)
Size:
46,742 bases
Orientation:
Minus strand
chr11:66,452,719-66,496,697
(GRCh37/hg19)
Size:
43,979 bases
Orientation:
Minus strand

Genomic View for SPTBN2 Gene

Genes around SPTBN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTBN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTBN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTBN2 Gene

Proteins for SPTBN2 Gene

  • Protein details for SPTBN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15020-SPTN2_HUMAN
    Recommended name:
    Spectrin beta chain, non-erythrocytic 2
    Protein Accession:
    O15020
    Secondary Accessions:
    • O14872
    • O14873

    Protein attributes for SPTBN2 Gene

    Size:
    2390 amino acids
    Molecular mass:
    271325 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA32700.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPTBN2 Gene

    Alternative splice isoforms for SPTBN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPTBN2 Gene

Post-translational modifications for SPTBN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPTBN2 Gene

Domains & Families for SPTBN2 Gene

Gene Families for SPTBN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SPTBN2 Gene

Blocks:
  • Pleckstrin-like
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat
  • Spectrin pleckstrin homology domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPTBN2 Gene

GenScript: Design optimal peptide antigens:
  • SPTBN2 protein (C1KC08_HUMAN)
  • Spectrin beta III sigma 2 (Q45KQ1_HUMAN)
  • Spectrin, non-erythroid beta chain 2 (SPTN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15020

UniProtKB/Swiss-Prot:

SPTN2_HUMAN :
  • Belongs to the spectrin family.
Family:
  • Belongs to the spectrin family.
genes like me logo Genes that share domains with SPTBN2: view

Function for SPTBN2 Gene

Molecular function for SPTBN2 Gene

UniProtKB/Swiss-Prot Function:
Probably plays an important role in neuronal membrane skeleton.

Phenotypes From GWAS Catalog for SPTBN2 Gene

Gene Ontology (GO) - Molecular Function for SPTBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton TAS 9826670
GO:0005515 protein binding IEA --
GO:0005543 phospholipid binding IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with SPTBN2: view
genes like me logo Genes that share phenotypes with SPTBN2: view

Human Phenotype Ontology for SPTBN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPTBN2 Gene

MGI Knock Outs for SPTBN2:
  • Sptbn2 Sptbn2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPTBN2 Gene

Localization for SPTBN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTBN2 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPTBN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 3
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPTBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with SPTBN2: view

Pathways & Interactions for SPTBN2 Gene

PathCards logo

SuperPathways for SPTBN2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
.38
.36
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with SPTBN2: view

Pathways by source for SPTBN2 Gene

2 Qiagen pathways for SPTBN2 Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics

Gene Ontology (GO) - Biological Process for SPTBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007411 axon guidance TAS --
GO:0007416 synapse assembly IEA --
genes like me logo Genes that share ontologies with SPTBN2: view

No data available for SIGNOR curated interactions for SPTBN2 Gene

Drugs & Compounds for SPTBN2 Gene

No Compound Related Data Available

Transcripts for SPTBN2 Gene

mRNA/cDNA for SPTBN2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTBN2

Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN2 Gene

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:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for SPTBN2 Gene

GeneLoc Exon Structure for
SPTBN2

Expression for SPTBN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPTBN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPTBN2 Gene

This gene is overexpressed in Brain - Cerebellum (x4.3) and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for SPTBN2 Gene

This gene is overexpressed in Frontal cortex (18.9), Salivary gland (9.7), Retina (6.2), and Cervix (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPTBN2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPTBN2

SOURCE GeneReport for Unigene cluster for SPTBN2 Gene:

Hs.26915

mRNA Expression by UniProt/SwissProt for SPTBN2 Gene:

O15020-SPTN2_HUMAN
Tissue specificity: Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.

Evidence on tissue expression from TISSUES for SPTBN2 Gene

  • Heart(5)
  • Liver(4.9)
  • Nervous system(4.7)
  • Adrenal gland(4)
  • Lung(3.7)
  • Blood(3.6)
  • Kidney(3.6)
  • Gall bladder(3.3)
  • Pancreas(3.3)
  • Eye(2.7)
  • Intestine(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTBN2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SPTBN2: view

No data available for Protein tissue co-expression partners for SPTBN2 Gene

Orthologs for SPTBN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTBN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPTBN2 31 30
  • 99.25 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN2 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN2 31 30
  • 90.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPTBN2 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptbn2 17 31 30
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Sptbn2 30
  • 87.52 (n)
oppossum
(Monodelphis domestica)
Mammalia SPTBN2 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPTBN2 31
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTBN2 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486199 30
  • 65.31 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558044 30
  • 66.77 (n)
sptbn2 31
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta &bgr;-Spec 32
  • 51 (a)
beta-Spec 31
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-70 31 32
  • 46 (a)
OneToMany
M116.5 32
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Species where no ortholog for SPTBN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPTBN2 Gene

ENSEMBL:
Gene Tree for SPTBN2 (if available)
TreeFam:
Gene Tree for SPTBN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPTBN2: view image

Paralogs for SPTBN2 Gene

(18) SIMAP similar genes for SPTBN2 Gene using alignment to 5 proteins:

  • SPTN2_HUMAN
  • A4QPE4_HUMAN
  • C1KC08_HUMAN
  • E9PJZ2_HUMAN
  • Q45KQ1_HUMAN
genes like me logo Genes that share paralogs with SPTBN2: view

Variants for SPTBN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPTBN2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
638445 Uncertain Significance: Spinocerebellar ataxia 5 66,687,151(-) A/G MISSENSE_VARIANT
708496 Benign: not provided 66,704,645(-) C/G SYNONYMOUS_VARIANT
709253 Likely Benign: not provided 66,693,034(-) C/T MISSENSE_VARIANT
711065 Benign: not provided 66,704,773(-) C/T MISSENSE_VARIANT
714047 Likely Benign: not provided 66,691,536(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SPTBN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPTBN2 Gene

Variant ID Type Subtype PubMed ID
nsv468602 CNV loss 19166990
nsv518919 CNV loss 19592680
nsv522277 CNV loss 19592680
nsv555225 CNV loss 21841781

Variation tolerance for SPTBN2 Gene

Residual Variation Intolerance Score: 0.518% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.21; 69.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPTBN2 Gene

Human Gene Mutation Database (HGMD)
SPTBN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPTBN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTBN2 Gene

Disorders for SPTBN2 Gene

MalaCards: The human disease database

(33) MalaCards diseases for SPTBN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPTN2_HUMAN
  • Spinocerebellar ataxia 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. {ECO:0000269 PubMed:16429157, ECO:0000269 PubMed:22914369}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14) [MIM:615386]: A form of spinocerebellar ataxia, 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. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. {ECO:0000269 PubMed:23236289, ECO:0000269 PubMed:23838597}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SPTBN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPTBN2: view

No data available for Genatlas for SPTBN2 Gene

Publications for SPTBN2 Gene

  1. Spectrin mutations cause spinocerebellar ataxia type 5. (PMID: 16429157) Ikeda Y … Ranum LP (Nature genetics 2006) 2 3 4 23 54
  2. A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. (PMID: 9826670) Stankewich MC … Lux SE (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23 54
  3. Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PMID: 17940722) Zühlke C … Bürk K (Journal of neurology 2007) 3 23 41 54
  4. Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. (PMID: 23838597) Elsayed SM … Bolz HJ (European journal of human genetics : EJHG 2014) 3 4 54
  5. Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. (PMID: 23236289) Lise S … Németh AH (PLoS genetics 2012) 3 4 54

Products for SPTBN2 Gene

Sources for SPTBN2 Gene