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Aliases for SPTBN2 Gene

Aliases for SPTBN2 Gene

  • Spectrin, Beta, Non-Erythrocytic 2 2 3
  • SCA5 3 4 6
  • Spinocerebellar Ataxia 5 Protein 3 4
  • Beta-III Spectrin 3 4
  • SCAR14 3 6
  • Glutamate Transporter EAAT4-Associated Protein 41 3
  • Spectrin Beta Chain, Non-Erythrocytic 2 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

External Ids for SPTBN2 Gene

Previous HGNC Symbols for SPTBN2 Gene

  • SCA5

Previous GeneCards Identifiers for SPTBN2 Gene

  • GC11M068986
  • GC11M068134
  • 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 Class I MHC mediated antigen processing and presentation and L1CAM interactions. GO annotations related to this gene include phospholipid binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTN2.

UniProtKB/Swiss-Prot for SPTBN2 Gene

  • Probably plays an important role in neuronal membrane skeleton

Gene Wiki entry for SPTBN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTBN2 Gene

Genomics for SPTBN2 Gene

Regulatory Elements for SPTBN2 Gene

Genomic Location for SPTBN2 Gene

Start:
66,683,428 bp from pter
End:
66,729,241 bp from pter
Size:
45,814 bases
Orientation:
Minus strand

Genomic View for SPTBN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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=Translation N-terminally shortened.; 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

Proteomics data for SPTBN2 Gene at MOPED

Post-translational modifications for SPTBN2 Gene

  • Ubiquitination at Lys65
  • Modification sites at PhosphoSitePlus

Other Protein References for SPTBN2 Gene

No data available for DME Specific Peptides for SPTBN2 Gene

Domains for SPTBN2 Gene

Gene Families for SPTBN2 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Suggested Antigen Peptide Sequences for SPTBN2 Gene

Graphical View of Domain Structure for InterPro Entry

O15020

UniProtKB/Swiss-Prot:

SPTN2_HUMAN :
  • O15020
Domain:
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 PH domain.
Family:
  • Belongs to the spectrin family.
Similarity:
  • Contains 17 spectrin repeats.
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

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 --
GO:0005543 phospholipid binding IEA --
genes like me logo Genes that share ontologies with SPTBN2: view
genes like me logo Genes that share phenotypes with SPTBN2: view

Animal Models for SPTBN2 Gene

MGI Knock Outs for SPTBN2:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPTBN2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for SPTBN2 Gene COMPARTMENTS Subcellular localization image for SPTBN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
golgi apparatus 2
nucleus 2

Gene Ontology (GO) - Cellular Components for SPTBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0008091 spectrin IDA 9826670
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SPTBN2: view

Pathways for SPTBN2 Gene

genes like me logo Genes that share pathways with SPTBN2: view

Gene Ontology (GO) - Biological Process for SPTBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007411 axon guidance TAS --
GO:0007416 synapse assembly IEA --
GO:0008219 cell death --
GO:0016192 vesicle-mediated transport IDA 9826670
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with SPTBN2: view

Transcripts for SPTBN2 Gene

Unigene Clusters for SPTBN2 Gene

Spectrin, beta, non-erythrocytic 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPTBN2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SPTBN2

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
SPTBN2

Expression for SPTBN2 Gene

mRNA expression in normal human tissues 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 (4.3) and Brain - Cortex (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPTBN2 Gene

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
genes like me logo Genes that share expressions with SPTBN2: view

In Situ Assay Products

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 35
  • 99.25 (n)
  • 99.41 (a)
SPTBN2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPTBN2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN2 35
  • 90.1 (n)
  • 95.61 (a)
SPTBN2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptbn2 35
  • 87.59 (n)
  • 95.02 (a)
Sptbn2 16
Sptbn2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn2 35
  • 87.52 (n)
  • 95.02 (a)
chicken
(Gallus gallus)
Aves SPTBN2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTBN2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486199 35
  • 65.31 (n)
  • 69.24 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC558044 35
  • 66.77 (n)
  • 68.57 (a)
sptbn2 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 36
  • 49 (a)
OneToMany
bgr-Spec 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-70 36
  • 46 (a)
OneToMany
M116.5 37
  • 41 (a)
unc-70 37
  • 49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for SPTBN2:
  • 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)

Paralogs for SPTBN2 Gene

Paralogs for SPTBN2 Gene

genes like me logo Genes that share paralogs with SPTBN2: view

Variants for SPTBN2 Gene

Sequence variations from dbSNP and Humsavar for SPTBN2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs471334 -- 66,694,305(+) CTTTG(A/C/G/T)CCTGG missense, reference
rs473265 -- 66,722,139(+) GGGTT(G/T)GCCAC upstream-variant-2KB, intron-variant
rs479261 -- 66,725,950(-) GGAGG(A/G)AATGA intron-variant, utr-variant-5-prime
rs492440 -- 66,723,247(-) ATGCT(A/T)AATTA upstream-variant-2KB, intron-variant
rs506028 Likely benign, - 66,700,998(+) TGGCC(A/C/G/T)CTGCC missense, reference

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

Variant ID Type Subtype PubMed ID
nsv522277 CNV Loss 19592680
nsv897789 CNV Gain 21882294
nsv518919 CNV Loss 19592680
nsv897790 CNV Loss 21882294
nsv897791 CNV Loss 21882294
nsv468602 CNV Loss 19166990
dgv1191n71 CNV Loss 21882294

Relevant External Links for SPTBN2 Gene

HapMap Linkage Disequilibrium report
SPTBN2
Human Gene Mutation Database (HGMD)
SPTBN2

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

Disorders for SPTBN2 Gene

(2) OMIM Diseases for SPTBN2 Gene (604985)

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]: 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. 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.

Relevant External Links for SPTBN2

Genetic Association Database (GAD)
SPTBN2
Human Genome Epidemiology (HuGE) Navigator
SPTBN2
genes like me logo Genes that share disorders with SPTBN2: view

Publications for SPTBN2 Gene

  1. A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. (PMID: 9826670) Stankewich M.C. … Lux S.E. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  2. Spectrin mutations cause spinocerebellar ataxia type 5. (PMID: 16429157) Ikeda Y. … Ranum L.P.W. (Nat. Genet. 2006) 2 3 4 23
  3. Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PMID: 17940722) ZA1hlke C. … BA1rk K. (J. Neurol. 2007) 3 23 48
  4. 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. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for SPTBN2 Gene

  • antibodies-online proteins for SPTBN2
  • antibodies-online antibodies for SPTBN2
  • antibodies-online kits for SPTBN2

Sources for SPTBN2 Gene

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