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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
  • Fodrin Beta Chain 3 4
  • Beta-II Spectrin 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. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include phospholipid binding and calmodulin binding. An important paralog of this gene is ACTN2.

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

Genomic Location for SPTBN1 Gene

Start:
54,456,285 bp from pter
End:
54,671,446 bp from pter
Size:
215,162 bases
Orientation:
Plus strand

Genomic View for SPTBN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Like erythrocyte spectrin, the spectrin-like proteins are capable to form dimers which can further associate to tetramers. Interacts with CAMSAP1. Interacts with ANK2. 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

Proteomics data for SPTBN1 Gene at MOPED

Post-translational modifications for SPTBN1 Gene

  • Ubiquitination at Lys62, Lys593, Lys1684, and Lys2177
  • Glycosylation at Ser2324
  • Modification sites at PhosphoSitePlus

Other Protein References for SPTBN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SPTBN1 Gene

Domains for SPTBN1 Gene

Gene Families for SPTBN1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q01082

UniProtKB/Swiss-Prot:

SPTB2_HUMAN :
  • Q01082
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 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:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton IMP 17620337
GO:0005515 protein binding IPI 12820899
GO:0005516 calmodulin binding IEA --
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for SPTBN1 Gene COMPARTMENTS Subcellular localization image for SPTBN1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
nucleus 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005730 nucleolus IDA 9537418
GO:0005737 cytoplasm IDA 9537418
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with SPTBN1: view

Pathways for SPTBN1 Gene

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

Gene Ontology (GO) - Biological Process for SPTBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 17620337
GO:0007009 plasma membrane organization IMP 17620337
GO:0007182 common-partner SMAD protein phosphorylation IEA --
GO:0007184 SMAD protein import into nucleus IEA --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with SPTBN1: view

Compounds for SPTBN1 Gene

(1) HMDB Compounds for SPTBN1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for SPTBN1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Calcium
target agonist
D-Myo-Inositol-1,4,5-Triphosphate
target

(3) Novoseek inferred chemical compound relationships for SPTBN1 Gene

Compound -log(P) Hits PubMed IDs
threonine 20.2 2
serine 17.7 3
calcium 0 3
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: -
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 for SPTBN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q01082-SPTB2_HUMAN
Tissue specificity: Isoform 2 is present in brain, lung and kidney (at protein level).
genes like me logo Genes that share expressions with SPTBN1: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia SPTBN1 35
  • 99.82 (n)
  • 100 (a)
SPTBN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPTBN1 35
  • 92.35 (n)
  • 99.11 (a)
SPTBN1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN1 35
  • 93.16 (n)
  • 98.98 (a)
SPTBN1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptbn1 35
  • 90.32 (n)
  • 98.35 (a)
Sptbn1 16
Sptbn1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTBN1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptbn1 35
  • 89.64 (n)
  • 97.28 (a)
chicken
(Gallus gallus)
Aves SPTBN1 35
  • 83.45 (n)
  • 96.02 (a)
SPTBN1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTBN1 36
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398511 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2561 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9900 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01070007.1 36
  • 86 (a)
OneToMany
sptb 35
  • 63.2 (n)
  • 62.64 (a)
SPTBN1 (1 of 2) 36
  • 87 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010895 35
  • 61.51 (n)
  • 58.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 35
  • 61.19 (n)
  • 57.6 (a)
beta-Spec 36
  • 57 (a)
OneToMany
kst 37
  • 30 (a)
bgr-Spec 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-70 35
  • 55.38 (n)
  • 53.18 (a)
unc-70 36
  • 51 (a)
OneToMany
M116.5 37
  • 42 (a)
unc-70 37
  • 54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7098 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SPTBN1 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs3287 -- 54,580,520(-) GCAAT(A/G)CTAGT intron-variant
rs8769 -- 54,669,173(+) ATGAC(A/G)GTTAA utr-variant-3-prime
rs9134 -- 54,669,475(-) ACAGA(G/T)AAATG utr-variant-3-prime
rs10528 -- 54,662,012(-) ATGCT(A/G)TTTTC intron-variant, utr-variant-3-prime
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

Relevant External Links for SPTBN1 Gene

HapMap Linkage Disequilibrium report
SPTBN1

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

Disorders for SPTBN1 Gene

(1) University of Copenhagen DISEASES for SPTBN1 Gene

(1) Novoseek inferred disease relationships for SPTBN1 Gene

Disease -log(P) Hits PubMed IDs
neurofibromatosis type 2 72.1 2

Relevant External Links for SPTBN1

Genetic Association Database (GAD)
SPTBN1
Human Genome Epidemiology (HuGE) Navigator
SPTBN1
genes like me logo Genes that share disorders with SPTBN1: view

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

Publications for SPTBN1 Gene

  1. Cloning of a portion of the chromosomal gene and cDNA for human beta- fodrin, the nonerythroid form of beta-spectrin. (PMID: 8406479) Chang J.G. … Forget B.G. (Genomics 1993) 3 4 23
  2. 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
  3. 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 4 23
  4. Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. (PMID: 9537418) Scoles D.R. … Pulst S.M. (Nat. Genet. 1998) 3 23
  5. Calcium-dependent peripheral localization of 4.1-like proteins and fodrin in cultured human keratinocytes. (PMID: 8688828) Shimizu T. … Ohkawara A. (Biol. Cell 1996) 3 23

Products for SPTBN1 Gene

Sources for SPTBN1 Gene

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