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Aliases for SPTBN1 Gene

Aliases for SPTBN1 Gene

  • Spectrin Beta, Non-Erythrocytic 1 2 3 5
  • Fodrin Beta Chain 2 3 4
  • Beta-II Spectrin 2 3 4
  • Spectrin, Non-Erythroid Beta Chain 1 3 4
  • SPTB2 3 4
  • Spectrin Beta Chain, Non-Erythrocytic 1 3
  • 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. Among its related pathways are RET signaling and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include protein complex binding. An important paralog of this gene is SPTBN2.

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

Additional gene information for SPTBN1 Gene

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

Genomics for SPTBN1 Gene

GeneHancer (GH) Regulatory Elements for SPTBN1 Gene

Promoters and enhancers for SPTBN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I054554 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.6 +102.9 102920 8.8 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SPTBN1 LOC105374640 EML6 ENSG00000203327 RPS27A RTN4 PIR49112 GC02M054620
GH02I054454 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 558.2 +1.0 960 5.3 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 YY1 GLIS2 ZNF143 SPTBN1 GC02P054478
GH02I054629 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.9 +177.3 177276 9 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 IRF4 ETS1 SPTBN1 EML6 RNU7-172P PRORSD1P GC02M054633 GC02M054634 GC02M054617
GH02I054482 Enhancer 1 Ensembl ENCODE dbSUPER 25.7 +27.1 27083 2.4 NR2F1 ZFP64 THRB JUND PRDM10 FOSL2 TCF7L2 NR2C2 SPTBN1 TSPYL6 RNU7-172P PRORSD1P GC02M054483 GC02P054478
GH02I054566 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +119.1 119116 16.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 PPARGC1A EML6 SPTBN1 ENSG00000272156 PRORSD1P ENSG00000238018 LOC105374640 GC02M054620 PIR49112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPTBN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTBN1 gene promoter:

Genomic Locations for SPTBN1 Gene

Genomic Locations for SPTBN1 Gene
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

Post-translational modifications for SPTBN1 Gene

  • Ubiquitination at posLast=593593, posLast=16841684, and isoforms=2177
  • Glycosylation at posLast=23242324

No data available for DME Specific Peptides for SPTBN1 Gene

Domains & Families for SPTBN1 Gene

Gene Families for SPTBN1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the spectrin family.
  • Belongs to the spectrin family.
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.

Phenotypes From GWAS Catalog for SPTBN1 Gene

Gene Ontology (GO) - Molecular Function for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22681889
GO:0003779 actin binding IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton IMP,IEA 17620337
GO:0005515 protein binding IPI 9537418
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:

Clone 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

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 SPTBN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA 9537418
GO:0005737 cytoplasm IEA,IDA 9537418
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SPTBN1: view

Pathways & Interactions for SPTBN1 Gene

SuperPathways for SPTBN1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
4 Developmental Biology
5 Cytokine Signaling in 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:0000165 MAPK cascade TAS --
GO:0000281 mitotic cytokinesis IMP 17620337
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007009 plasma membrane organization IMP 17620337
GO:0007010 cytoskeleton organization IEA --
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
calcium Approved Nutra Target, agonist 0
1D-myo-inositol 1,4,5-trisphosphate Experimental Pharma Target 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPTBN1 Gene

Protein tissue co-expression partners for SPTBN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPTBN1 Gene:


SOURCE GeneReport for Unigene cluster for SPTBN1 Gene:


mRNA Expression by UniProt/SwissProt for SPTBN1 Gene:

Tissue specificity: Isoform 2 is present in brain, lung and kidney (at protein level).

Evidence on tissue expression from TISSUES for SPTBN1 Gene

  • Heart(5)
  • Nervous system(5)
  • Liver(4.7)
  • Blood(4.6)
  • Intestine(4.6)
  • Lung(4.5)
  • Muscle(4.5)
  • Eye(4.2)
  • Skin(4)
  • Pancreas(3.6)
  • Kidney(3.3)
  • Adrenal gland(2.4)
  • Spleen(2.4)
  • Stomach(2.4)
genes like me logo Genes that share expression patterns with SPTBN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SPTBN1 33 34
  • 99.82 (n)
(Monodelphis domestica)
Mammalia SPTBN1 34
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia SPTBN1 34
  • 95 (a)
(Canis familiaris)
Mammalia SPTBN1 33 34
  • 93.16 (n)
(Bos Taurus)
Mammalia SPTBN1 33 34
  • 92.35 (n)
(Mus musculus)
Mammalia Sptbn1 33 16 34
  • 90.32 (n)
(Rattus norvegicus)
Mammalia Sptbn1 33
  • 89.64 (n)
(Gallus gallus)
Aves SPTBN1 33 34
  • 83.45 (n)
(Anolis carolinensis)
Reptilia SPTBN1 34
  • 95 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2561 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398511 33
(Danio rerio)
Actinopterygii SPTBN1 (1 of 2) 34
  • 87 (a)
CABZ01070007.1 34
  • 86 (a)
sptb 33
  • 63.2 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9900 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010895 33
  • 61.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 33 34
  • 61.19 (n)
bgr-Spec 35
  • 58 (a)
kst 35
  • 30 (a)
(Caenorhabditis elegans)
Secernentea unc-70 35 33 34
  • 55.38 (n)
M116.5 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7098 33
Species where no ortholog for SPTBN1 was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs1000014669 -- 54,469,317(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000020342 -- 54,499,340(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000022489 -- 54,635,739(+) T/C intron_variant
rs1000027526 -- 54,567,141(+) A/G intron_variant
rs1000027760 -- 54,617,164(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv961776 CNV duplication 23825009
nsv954200 CNV deletion 24416366
nsv817939 CNV gain 17921354
nsv582024 CNV gain 21841781
nsv528848 CNV loss 19592680
nsv518406 CNV loss 19592680
nsv438348 CNV loss 16468122
nsv2733 CNV insertion 18451855
nsv2731 CNV deletion 18451855
nsv214368 CNV deletion 16902084
nsv1149367 CNV deletion 26484159
nsv1072943 CNV deletion 25765185
nsv1071593 CNV deletion 25765185
nsv1002611 CNV loss 25217958
esv987979 CNV deletion 20482838
esv3590845 CNV loss 21293372
esv3590844 CNV gain 21293372
esv3590843 CNV loss 21293372
esv33638 CNV loss 17666407
esv3076 CNV loss 18987735
esv2762639 CNV gain 21179565
esv2720081 CNV deletion 23290073
esv2720078 CNV deletion 23290073
esv2676637 CNV deletion 23128226
esv2503095 CNV deletion 19546169
esv2263133 CNV deletion 18987734
esv1689528 CNV deletion 17803354
dgv700e199 CNV deletion 23128226
dgv3848n100 CNV gain 25217958
dgv3845n100 CNV gain 25217958
dgv241e215 CNV deletion 23714750
dgv1915n106 CNV deletion 24896259

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)

Additional Variant Information for SPTBN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTBN1 Gene

Disorders for SPTBN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • bws
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPTBN1

Genetic Association Database
Human Genome Epidemiology 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. 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 (Journal of molecular neuroscience : MN 2001) 3 4 22 58
  2. Identification of a novel C-terminal variant of beta II spectrin: two isoforms of beta II spectrin have distinct intracellular locations and activities. (PMID: 10806113) Hayes NV … Baines AJ (Journal of cell science 2000) 3 4 22 58
  3. Cloning of a portion of the chromosomal gene and cDNA for human beta-fodrin, the nonerythroid form of beta-spectrin. (PMID: 8406479) Chang JG … Forget BG (Genomics 1993) 3 4 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 44 58

Products for SPTBN1 Gene

Sources for SPTBN1 Gene

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