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 ... See more...

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 Beta Chain, Non-Erythrocytic 1 3 4
  • Spectrin, Non-Erythroid Beta Chain 1 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 Neurofibromatosis, Type Ii and Beckwith-Wiedemann Syndrome. Among its related pathways are Vesicle-mediated transport and RET signaling. An important paralog of this gene is SPTBN2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SPTBN1 Gene

Genomics for SPTBN1 Gene

GeneHancer (GH) Regulatory Elements for SPTBN1 Gene

Promoters and enhancers for SPTBN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPTBN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTBN1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • FAC1
  • FOXO4
  • HFH-3
  • HSF2
  • p53
  • TBP

Genomic Locations for SPTBN1 Gene

Genomic Locations for SPTBN1 Gene
chr2:54,456,317-54,671,446
(GRCh38/hg38)
Size:
215,130 bases
Orientation:
Plus strand
chr2:54,683,422-54,898,583
(GRCh37/hg19)
Size:
215,162 bases
Orientation:
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:
    Q01082-SPTB2_HUMAN
    Recommended name:
    Spectrin beta chain, non-erythrocytic 1
    Protein Accession:
    Q01082
    Secondary Accessions:
    • B2RP63
    • O60837
    • Q16057
    • Q53R99
    • Q59ER3
    • Q8IX99

    Protein attributes for SPTBN1 Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for SPTBN1 Gene

Post-translational modifications for SPTBN1 Gene

  • Glycosylation at Ser2324
  • Ubiquitination at Lys593, Lys1684, and Lys2177
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPTBN1 Gene

Domains & Families for SPTBN1 Gene

Gene Families for SPTBN1 Gene

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

Suggested Antigen Peptide Sequences for SPTBN1 Gene

GenScript: Design optimal peptide antigens:
  • Spectrin, beta, non-erythrocytic 1, isoform CRA_d (B2ZZ89_HUMAN)
  • cDNA FLJ55845, highly similar to Spectrin beta chain, brain 1 (B4DIF8_HUMAN)
  • Spectrin, beta, non-erythrocytic 1, isoform CRA_b (D6W5C0_HUMAN)
  • Spectrin, non-erythroid beta chain 1 (SPTB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01082

UniProtKB/Swiss-Prot:

SPTB2_HUMAN :
  • Belongs to the spectrin family.
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

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.
GENATLAS Biochemistry:
spectrin,beta,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),beta-fodrin,mainly expressed in brain

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 22681889
GO:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton IMP,IEA 17620337
GO:0005515 protein binding IPI,IEA 9537418
GO:0005516 calmodulin 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

CRISPR Products

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

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 SPTBN1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
cytosol 4
plasma membrane 3
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 IDA,IEA 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

PathCards logo

SuperPathways for SPTBN1 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 SPTBN1: view

Pathways by source for SPTBN1 Gene

1 GeneGo (Thomson Reuters) pathway for SPTBN1 Gene
3 Qiagen pathways for SPTBN1 Gene
  • Apoptosis through Death Receptors
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics

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 7773
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

mRNA/cDNA for SPTBN1 Gene

CRISPR Products

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: -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5: - - -
SP6:

Relevant External Links for SPTBN1 Gene

GeneLoc Exon Structure for
SPTBN1
ECgene alternative splicing isoforms for
SPTBN1

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, 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:

SPTBN1

SOURCE GeneReport for Unigene cluster for SPTBN1 Gene:

Hs.503178

mRNA Expression by UniProt/SwissProt for SPTBN1 Gene:

Q01082-SPTB2_HUMAN
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(4.8)
  • 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
chimpanzee
(Pan troglodytes)
Mammalia SPTBN1 33 32
  • 99.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN1 33
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN1 33
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN1 33 32
  • 93.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPTBN1 33 32
  • 92.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sptbn1 17 33 32
  • 90.32 (n)
rat
(Rattus norvegicus)
Mammalia Sptbn1 32
  • 89.64 (n)
chicken
(Gallus gallus)
Aves SPTBN1 33 32
  • 83.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTBN1 33
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2561 32
African clawed frog
(Xenopus laevis)
Amphibia LOC398511 32
zebrafish
(Danio rerio)
Actinopterygii SPTBN1 (1 of 2) 33
  • 87 (a)
OneToMany
CABZ01070007.1 33
  • 86 (a)
OneToMany
sptb 32 32
  • 63.2 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9900 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010895 32
  • 61.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 33 32
  • 61.19 (n)
OneToMany
&bgr;-Spec 34
  • 58 (a)
kst 34
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-70 33 34 32
  • 55.38 (n)
OneToMany
M116.5 34
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 54 (a)
OneToMany
Cin.7098 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7098 32
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

ENSEMBL:
Gene Tree for SPTBN1 (if available)
TreeFam:
Gene Tree for SPTBN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPTBN1: view image

Paralogs for SPTBN1 Gene

(20) SIMAP similar genes for SPTBN1 Gene using alignment to 8 proteins:

  • SPTB2_HUMAN
  • B2ZZ89_HUMAN
  • B4DIF8_HUMAN
  • D6W5C0_HUMAN
  • F8W6C1_HUMAN
  • K9MS24_HUMAN
  • L8ECA0_HUMAN
  • Q53RC4_HUMAN
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
rs1553338193 uncertain-significance, not provided 54,599,202(+) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000014669 -- 54,469,317(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000020342 -- 54,499,340(+) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000022489 -- 54,635,739(+) T/C intron_variant
rs1000027526 -- 54,567,141(+) A/G intron_variant

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

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

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
SPTBN1

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

Disorders for SPTBN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neurofibromatosis, type ii
  • nf2
beckwith-wiedemann syndrome
  • bws
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPTBN1

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 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 23 56
  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 23 56
  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 23 56
  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 43 56
  5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 43 56

Products for SPTBN1 Gene

Sources for SPTBN1 Gene