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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 Aquaporin-mediated transport. GO annotations related to this gene include poly(A) RNA binding and 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

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G054629 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.9 +177.3 177276 9.0 HDGF FOXA2 MLX SIN3A ARID4B DMAP1 YBX1 YY1 ZNF207 FOS SPTBN1 EML6 RNU7-172P PRORSD1P GC02M054634 GC02M054617
GH02G054554 1.9 FANTOM5 ENCODE dbSUPER 18.6 +102.9 102920 8.8 HDGF PKNOX1 FOXA2 ARNT ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 SPTBN1 EML6 RTN4 LOC105374640 PIR49112 GC02M054620
GH02G054482 1.2 Ensembl ENCODE dbSUPER 25.7 +27.1 27083 2.4 ZFP64 NR2F1 BHLHE40 THRB YY1 JUND HDAC2 GATA2 HNF4A FOS SPTBN1 TSPYL6 RNU7-172P PRORSD1P GC02M054483 GC02P054478
GH02G054566 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +119.1 119117 16.9 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21 PPARGC1A EML6 SPTBN1 ENSG00000272156 PRORSD1P ENSG00000238018 LOC105374640 PIR49112 GC02M054620
GH02G054401 1.4 Ensembl ENCODE dbSUPER 16.9 -53.9 -53915 2.4 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 FOS PAF1 JUNB SPTBN1 C2orf73 RNU7-172P GC02M054422 GC02M054359
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000290971 815 3001 ARID4B SIN3A YBX1 ZNF48 ZBTB7B GLIS2 ZNF263 SP3 SP5 MXD4
ENSR00000117198 -1084 400 TBP TFAP4 FOXA2 SUZ12 ZFP64 CEBPG ZSCAN9 YY1 ZNF600 U2AF2

Genomic Location for SPTBN1 Gene

Chromosome:
2
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

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

  • Ubiquitination at Lys593, Lys1684, and isoforms=2177
  • Glycosylation at Ser2324
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPTBN1 Gene

Domains & Families for SPTBN1 Gene

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

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:0003723 RNA binding IDA 22681889
GO:0003779 actin binding IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton IEA,IMP 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:

Animal Model Products

CRISPR Products

Inhibitory RNA 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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
golgi apparatus 2

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 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
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:

CRISPR Products

Inhibitory RNA 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, 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:

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(4.7)
  • 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

Primer Products

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 34 35
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SPTBN1 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTBN1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTBN1 34 35
  • 93.16 (n)
cow
(Bos Taurus)
Mammalia SPTBN1 34 35
  • 92.35 (n)
mouse
(Mus musculus)
Mammalia Sptbn1 34 16 35
  • 90.32 (n)
rat
(Rattus norvegicus)
Mammalia Sptbn1 34
  • 89.64 (n)
chicken
(Gallus gallus)
Aves SPTBN1 34 35
  • 83.45 (n)
lizard
(Anolis carolinensis)
Reptilia SPTBN1 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2561 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398511 34
zebrafish
(Danio rerio)
Actinopterygii SPTBN1 (1 of 2) 35
  • 87 (a)
OneToMany
CABZ01070007.1 35
  • 86 (a)
OneToMany
sptb 34
  • 63.2 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9900 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010895 34
  • 61.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 34 35
  • 61.19 (n)
bgr-Spec 36
  • 58 (a)
kst 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-70 36 34 35
  • 55.38 (n)
M116.5 36
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7098 34
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)

Paralogs for SPTBN1 Gene

Variants for SPTBN1 Gene

Sequence variations from dbSNP and Humsavar for SPTBN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000014669 -- 54,469,317(+) TGGGG(G/T)TTGCT intron-variant
rs1000020342 -- 54,499,340(+) TTAGA(C/T)CATAC intron-variant
rs1000022489 -- 54,635,739(+) TCCTT(C/T)ATCCC intron-variant
rs1000027526 -- 54,567,141(+) GGAGA(A/G)ATAAA intron-variant
rs1000027760 -- 54,617,164(+) AGTGG(C/T)GTATG 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)

Relevant External Links 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

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

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

Relevant External Links for SPTBN1

Genetic Association Database (GAD)
SPTBN1
Human Genome Epidemiology (HuGE) Navigator
SPTBN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTBN1
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. (J. Mol. Neurosci. 2001) 3 4 22 64
  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 22 64
  3. 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 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva L.K. … Teixeira M.G. (Eur. J. Hum. Genet. 2010) 3 46 64

Products for SPTBN1 Gene

Sources for SPTBN1 Gene

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