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Aliases for SPTBN2 Gene

Aliases for SPTBN2 Gene

  • Spectrin, Beta, Non-Erythrocytic 2 2 3
  • 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
  • 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 spectrin-associated autosomal recessive cerebellar ataxia and spinocerebellar ataxia 5. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include actin binding and phospholipid binding. 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

Chromosome:
11
Start:
66,682,496 bp from pter
End:
66,729,237 bp from pter
Size:
46,742 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPTBN2 Gene

Antibody Products

No data available for DME Specific Peptides for SPTBN2 Gene

Domains & Families for SPTBN2 Gene

Suggested Antigen Peptide Sequences for SPTBN2 Gene

Graphical View of Domain Structure for InterPro Entry

O15020

UniProtKB/Swiss-Prot:

SPTN2_HUMAN :
  • Contains 2 CH (calponin-homology) domains.
  • Belongs to the spectrin family.
  • Contains 17 spectrin repeats.
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:

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 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
Jensen Localization Image for SPTBN2 Gene COMPARTMENTS Subcellular localization image for SPTBN2 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4
plasma membrane 2
golgi apparatus 1

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 & Interactions for SPTBN2 Gene

SuperPathways for SPTBN2 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Immune System
3 Signaling by GPCR
4 Developmental Biology
5 Sertoli-Sertoli Cell Junction Dynamics
genes like me logo Genes that share pathways with SPTBN2: view

Pathways by source for SPTBN2 Gene

Gene Ontology (GO) - Biological Process for SPTBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007265 Ras protein signal transduction TAS --
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

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

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 (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, 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 expression patterns with SPTBN2: view

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia SPTBN2 35
  • 99.25 (n)
  • 99.41 (a)
SPTBN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn2 35
  • 87.52 (n)
  • 95.02 (a)
cow
(Bos Taurus)
Mammalia SPTBN2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN2 36
  • 96 (a)
OneToOne
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 bgr-Spec 37
  • 51 (a)
beta-Spec 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M116.5 37
  • 41 (a)
unc-70 37
  • 49 (a)
unc-70 36
  • 46 (a)
OneToMany
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
rs506028 Likely benign, Likely benign, - 66,700,998(+) TGGCC(A/C/G/T)CTGCC missense, reference
rs508996 -- 66,689,462(+) GGAAA(C/T)GGGGT intron-variant
rs522739 -- 66,684,576(-) cccat(G/T)gcaac utr-variant-3-prime
rs525872 -- 66,730,548(-) ggctg(A/G)agtgc upstream-variant-2KB

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

Variation tolerance for SPTBN2 Gene

Residual Variation Intolerance Score: .52% 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)

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

MalaCards: The human disease database

(10) MalaCards diseases for SPTBN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spectrin-associated autosomal recessive cerebellar ataxia
  • autosomal recessive cerebellar ataxia - cognitive defect
spinocerebellar ataxia 5
  • spinocerebellar ataxia type 5
spinocerebellar ataxia, autosomal recessive 14
  • spinocerebellar ataxia, autosomal recessive, 14
cerebral palsy, ataxic, autosomal recessive
  • ataxic cerebral palsy
plexiform neurofibroma
  • neurofibroma plexiform
- elite association

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTBN2
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 L.P.W. (Nat. Genet. 2006) 2 23 67
  2. 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 23 67
  3. Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. (PMID: 20231455) Stankewich M.C. … Morrow J.S. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67
  4. Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila. (PMID: 20368622) Lorenzo D.N. … Hays T.S. (J. Cell Biol. 2010) 23 67
  5. Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PMID: 17940722) ZA1hlke C. … BA1rk K. (J. Neurol. 2007) 23 67

Products for SPTBN2 Gene

Sources for SPTBN2 Gene

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