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Aliases for SPTBN1 Gene

Aliases for SPTBN1 Gene

  • Spectrin Beta, Non-Erythrocytic 1 2 3
  • Spectrin, Non-Erythroid Beta Chain 1 3 4
  • Spectrin, Beta, Non-Erythrocytic 1 3 5
  • Fodrin Beta Chain 3 4
  • Beta-II Spectrin 3 4
  • SPTB2 3 4
  • Beta-Spectrin Non-Erythrocytic 1 3
  • Epididymis Luminal Protein 102 3
  • Spectrin Beta Chain, Brain 1 3
  • Embryonic Liver Beta-Fodrin 3
  • Beta-Spectrin II 3
  • Beta-G Spectrin 3
  • Beta-Spectrin 2 3
  • Beta-Fodrin 3
  • BetaSpII 3
  • HEL102 3
  • ELF 3

External Ids for SPTBN1 Gene

Previous GeneCards Identifiers for SPTBN1 Gene

  • GC02P054791
  • GC02P054939
  • GC02P054641
  • GC02P054658
  • GC02P054728
  • GC02P054596
  • GC02P054665
  • GC02P054485

Summaries for SPTBN1 Gene

Entrez Gene Summary for SPTBN1 Gene

  • 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 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]

GeneCards Summary for SPTBN1 Gene

SPTBN1 (Spectrin Beta, Non-Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTBN1 include Beckwith-Wiedemann Syndrome and Neurofibromatosis, Type 2. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and Developmental Biology. GO annotations related to this gene include poly(A) RNA binding and protein complex binding. An important paralog of this gene is SYNE2.

UniProtKB/Swiss-Prot for SPTBN1 Gene

  • Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.

Gene Wiki entry for SPTBN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTBN1 Gene

Genomics for SPTBN1 Gene

Regulatory Elements for SPTBN1 Gene

Enhancers for SPTBN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPTBN1 on UCSC Golden Path with GeneCards custom track

Promoters for SPTBN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPTBN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPTBN1 Gene

54,456,285 bp from pter
54,671,446 bp from pter
215,162 bases
Plus strand

Genomic View for SPTBN1 Gene

Genes around SPTBN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTBN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTBN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTBN1 Gene

Proteins for SPTBN1 Gene

  • Protein details for SPTBN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Spectrin beta chain, non-erythrocytic 1
    Protein Accession:
    Secondary Accessions:
    • B2RP63
    • O60837
    • Q16057
    • Q53R99
    • Q59ER3
    • Q8IX99

    Protein attributes for SPTBN1 Gene

    2364 amino acids
    Molecular mass:
    274609 Da
    Quaternary structure:
    • Interacts with CAMSAP1 (PubMed:24117850). Interacts with ANK2 (PubMed:15262991). Interacts with CPNE4 (via VWFA domain) (By similarity). Like erythrocyte spectrin, the spectrin-like proteins are capable to form dimers which can further associate to tetramers (By similarity). Isoform Short cannot bind to the axonal protein fodaxin.
    • Sequence=BAD92985.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPTBN1 Gene

    Alternative splice isoforms for SPTBN1 Gene


neXtProt entry for SPTBN1 Gene

Proteomics data for SPTBN1 Gene at MOPED

Post-translational modifications for SPTBN1 Gene

  • Ubiquitination at Lys 593, Lys 1684, and Lys 2177
  • Glycosylation at Ser 2324
  • Modification sites at PhosphoSitePlus

Other Protein References for SPTBN1 Gene

No data available for DME Specific Peptides for SPTBN1 Gene

Domains & Families for SPTBN1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 CH (calponin-homology) domains.
  • Belongs to the spectrin family.
  • Contains 17 spectrin repeats.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 PH domain.
  • Belongs to the spectrin family.
  • Contains 17 spectrin repeats.
genes like me logo Genes that share domains with SPTBN1: view

Function for SPTBN1 Gene

Molecular function for SPTBN1 Gene

GENATLAS Biochemistry:
spectrin,beta,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),beta-fodrin,mainly expressed in brain
UniProtKB/Swiss-Prot Function:
Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.

Gene Ontology (GO) - Molecular Function for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 9537418
GO:0005543 phospholipid binding IEA --
genes like me logo Genes that share ontologies with SPTBN1: view
genes like me logo Genes that share phenotypes with SPTBN1: view

Animal Models for SPTBN1 Gene

MGI Knock Outs for SPTBN1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPTBN1 Gene

Localization for SPTBN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTBN1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes. {ECO:0000250}.
Isoform 2: Cell membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

Jensen Localization Image for SPTBN1 Gene COMPARTMENTS Subcellular localization image for SPTBN1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 4
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 9537418
GO:0005829 cytosol TAS --
GO:0030673 axolemma ISS --
genes like me logo Genes that share ontologies with SPTBN1: view

Pathways & Interactions for SPTBN1 Gene

SuperPathways for SPTBN1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
4 Developmental Biology
5 Immune System
genes like me logo Genes that share pathways with SPTBN1: view

SIGNOR curated interactions for SPTBN1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007184 SMAD protein import into nucleus IEA --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with SPTBN1: view

Drugs & Compounds for SPTBN1 Gene

(4) Drugs for SPTBN1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Myo-Inositol-1,4,5-Triphosphate Experimental Pharma Target 0
calcium Nutra Target, agonist 0
genes like me logo Genes that share compounds with SPTBN1: view

Transcripts for SPTBN1 Gene

Unigene Clusters for SPTBN1 Gene

Spectrin, beta, non-erythrocytic 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: -

ExUns: 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b
SP1: - - - - -
SP2: -
SP5: - - -

Relevant External Links for SPTBN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPTBN1 Gene

mRNA expression in normal human tissues for SPTBN1 Gene

Protein differential expression in normal tissues from HIPED for SPTBN1 Gene

This gene is overexpressed in Frontal cortex (7.6) and Spinal cord (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPTBN1 Gene

SOURCE GeneReport for Unigene cluster for SPTBN1 Gene Hs.503178

mRNA Expression by UniProt/SwissProt for SPTBN1 Gene

Tissue specificity: Isoform 2 is present in brain, lung and kidney (at protein level).
genes like me logo Genes that share expression patterns with SPTBN1: view

Protein tissue co-expression partners for SPTBN1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPTBN1 Gene

Orthologs for SPTBN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTBN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SPTBN1 35
  • 92.35 (n)
  • 99.11 (a)
  • 99 (a)
(Canis familiaris)
Mammalia SPTBN1 35
  • 93.16 (n)
  • 98.98 (a)
  • 99 (a)
(Mus musculus)
Mammalia Sptbn1 35
  • 90.32 (n)
  • 98.35 (a)
Sptbn1 16
Sptbn1 36
  • 98 (a)
(Pan troglodytes)
Mammalia SPTBN1 35
  • 99.82 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Sptbn1 35
  • 89.64 (n)
  • 97.28 (a)
(Monodelphis domestica)
Mammalia SPTBN1 36
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia SPTBN1 36
  • 95 (a)
(Gallus gallus)
Aves SPTBN1 35
  • 83.45 (n)
  • 96.02 (a)
  • 95 (a)
(Anolis carolinensis)
Reptilia SPTBN1 36
  • 95 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2561 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398511 35
(Danio rerio)
Actinopterygii sptb 35
  • 63.2 (n)
  • 62.64 (a)
CABZ01070007.1 36
  • 86 (a)
SPTBN1 (1 of 2) 36
  • 87 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9900 35
fruit fly
(Drosophila melanogaster)
Insecta bgr-Spec 37
  • 58 (a)
kst 37
  • 30 (a)
beta-Spec 35
  • 61.19 (n)
  • 57.6 (a)
beta-Spec 36
  • 57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010895 35
  • 61.51 (n)
  • 58.62 (a)
(Caenorhabditis elegans)
Secernentea M116.5 37
  • 42 (a)
unc-70 37
  • 54 (a)
unc-70 35
  • 55.38 (n)
  • 53.18 (a)
unc-70 36
  • 51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7098 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
Species with no ortholog for SPTBN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 SPTBN1 Gene

Gene Tree for SPTBN1 (if available)
Gene Tree for SPTBN1 (if available)

Paralogs for SPTBN1 Gene

genes like me logo Genes that share paralogs with SPTBN1: view

Variants for SPTBN1 Gene

Sequence variations from dbSNP and Humsavar for SPTBN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1052790 - 54,644,548(+) GCAAA(C/G)ACCTG reference, missense
rs1804470 -- 54,668,660(+) TGCCT(A/T)ATGTT utr-variant-3-prime
rs1804471 -- 54,629,457(+) GCCAC(A/G/T)ATGAG reference, missense
rs1804472 -- 54,631,302(+) GCGAT(C/T)GCCTC reference, synonymous-codon
rs907135 -- 54,666,906(+) GGTCC(C/T)GGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPTBN1 Gene

Variant ID Type Subtype PubMed ID
esv2720078 CNV Deletion 23290073
dgv4144n71 CNV Loss 21882294
esv2503095 CNV Deletion 19546169
nsv438348 CNV Loss 16468122
nsv817939 CNV Gain 17921354
esv2263133 CNV Deletion 18987734
esv3076 CNV Deletion 18987735
esv2720081 CNV Deletion 23290073
nsv214368 CNV Loss 16902084
esv987979 CNV Deletion 20482838
esv1689528 CNV Deletion 17803354
nsv518406 CNV Loss 19592680
dgv700e199 CNV Deletion 23128226
nsv2731 CNV Loss 18451855
nsv528848 CNV Loss 19592680
esv33638 CNV Loss 17666407
esv2676637 CNV Deletion 23128226
nsv2733 CNV Insertion 18451855

Variation tolerance for SPTBN1 Gene

Residual Variation Intolerance Score: 0.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.54% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SPTBN1 Gene

Disorders for SPTBN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPTBN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • wiedemann-beckwith syndrome
neurofibromatosis, type 2
  • central neurofibromatosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SPTBN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SPTBN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPTBN1 Gene

Publications for SPTBN1 Gene

  1. Identification of a novel C-terminal variant of betaII spectrin: two isoforms of betaII spectrin have distinct intracellular locations and activities. (PMID: 10806113) Hayes N.V.L. … Baines A.J. (J. Cell Sci. 2000) 3 4 23 67
  2. Phosphorylation of a threonine unique to the short C-terminal isoform of betaII-spectrin links regulation of alpha-beta spectrin interaction to neuritogenesis. (PMID: 17088250) Bignone P.A. … Baines A.J. (J. Biol. Chem. 2007) 3 23
  3. Identification of a third Protein 4.1 tumor suppressor, Protein 4.1R, in meningioma pathogenesis. (PMID: 12901833) Robb V.A. … Gutmann D.H. (Neurobiol. Dis. 2003) 3 23
  4. A novel isoform of beta-spectrin II localizes to cerebellar Purkinje- cell bodies and interacts with neurofibromatosis type 2 gene product schwannomin. (PMID: 11665863) Chen Y. … Cai T. (J. Mol. Neurosci. 2001) 3 23
  5. Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. (PMID: 9537418) Scoles D.R. … Pulst S.M. (Nat. Genet. 1998) 3 23

Products for SPTBN1 Gene

Sources for SPTBN1 Gene