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Aliases for SPTB Gene

Aliases for SPTB Gene

  • Spectrin, Beta, Erythrocytic 2 3
  • Beta-I Spectrin 3 4
  • SPH2 3 6
  • HS2 3 6
  • EL3 3 6
  • Spectrin Beta Chain, Erythrocytic 3
  • Spectrin Beta Chain, Erythrocyte 3
  • Membrane Cytoskeletal Protein 3
  • Clinical Type I 2
  • Spherocytosis 2
  • HSPTB1 3
  • SPTB1 4

External Ids for SPTB Gene

Summaries for SPTB Gene

Entrez Gene Summary for SPTB Gene

  • This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

GeneCards Summary for SPTB Gene

SPTB (Spectrin, Beta, Erythrocytic) is a Protein Coding gene. Diseases associated with SPTB include elliptocytosis 3 and gnathomiasis. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include protein heterodimerization activity and structural constituent of cytoskeleton. An important paralog of this gene is ACTN2.

UniProtKB/Swiss-Prot for SPTB Gene

  • Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane

Gene Wiki entry for SPTB Gene

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

Genomics for SPTB Gene

Genomic Location for SPTB Gene

Start:
64,746,283 bp from pter
End:
64,879,883 bp from pter
Size:
133,601 bases
Orientation:
Minus strand

Genomic View for SPTB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPTB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTB Gene

Regulatory Elements for SPTB Gene

Proteins for SPTB Gene

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

    Protein Symbol:
    P11277-SPTB1_HUMAN
    Recommended name:
    Spectrin beta chain, erythrocytic
    Protein Accession:
    P11277
    Secondary Accessions:
    • Q15510
    • Q15519

    Protein attributes for SPTB Gene

    Size:
    2137 amino acids
    Molecular mass:
    246468 Da
    Quaternary structure:
    • Composed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher polymers
    Miscellaneous:
    • This complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry of the plasma membrane

    Three dimensional structures from OCA and Proteopedia for SPTB Gene

    Alternative splice isoforms for SPTB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPTB Gene

Proteomics data for SPTB Gene at MOPED

Post-translational modifications for SPTB Gene

  • The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-2110.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys62

Other Protein References for SPTB Gene

No data available for DME Specific Peptides for SPTB Gene

Domains for SPTB Gene

Gene Families for SPTB Gene

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

UniProtKB/Swiss-Prot:

SPTB1_HUMAN
Domain:
  • Contains 2 CH (calponin-homology) domains.:
    • P11277
Family:
  • Belongs to the spectrin family.:
    • P11277
Similarity:
  • Contains 17 spectrin repeats.:
    • P11277
genes like me logo Genes that share domains with SPTB: view

Function for SPTB Gene

Molecular function for SPTB Gene

GENATLAS Biochemistry: spectrin,beta,erythrocytic,intermediate filament associated protein (IFAP,type III),dimerizing and heteropolymerizing,components of the core structure of the membrane skeleton
UniProtKB/Swiss-Prot Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane

Gene Ontology (GO) - Molecular Function for SPTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 2195026
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 12820899
GO:0030506 ankyrin binding IPI 8159688
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with SPTB: view
genes like me logo Genes that share phenotypes with SPTB: view

miRNA for SPTB Gene

miRTarBase miRNAs that target SPTB

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SPTB Gene

Localization for SPTB Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTB Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPTB Gene COMPARTMENTS Subcellular localization image for SPTB gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 4
golgi apparatus 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0008091 spectrin IEA --
GO:0009986 cell surface IDA 10867799
genes like me logo Genes that share ontologies with SPTB: view

Pathways for SPTB Gene

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

Gene Ontology (GO) - Biological Process for SPTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0007009 plasma membrane organization IEA --
GO:0007411 axon guidance TAS --
GO:0030097 hemopoiesis IEA --
GO:0051693 actin filament capping IEA --
genes like me logo Genes that share ontologies with SPTB: view

Compounds for SPTB Gene

(16) Novoseek inferred chemical compound relationships for SPTB Gene

Compound -log(P) Hits PubMed IDs
2-nitro-5-thiocyanobenzoic acid 74.5 3
glyceraldehyde 3-phosphate 35.6 1
acetyl-l-carnitine 29.8 1
inositol 1,4,5 trisphosphate 23.6 1
phosphatidylserine 17.4 3
genes like me logo Genes that share compounds with SPTB: view

Transcripts for SPTB Gene

Unigene Clusters for SPTB Gene

Spectrin, beta, erythrocytic:
Representative Sequences:

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

No ASD Table

Relevant External Links for SPTB Gene

GeneLoc Exon Structure for
SPTB
ECgene alternative splicing isoforms for
SPTB

Expression for SPTB Gene

mRNA expression in normal human tissues for SPTB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPTB Gene

This gene is overexpressed in Muscle - Skeletal (23.0) and Heart - Left Ventricle (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPTB Gene

SOURCE GeneReport for Unigene cluster for SPTB Gene Hs.417303

genes like me logo Genes that share expressions with SPTB: view

Orthologs for SPTB Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPTB 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPTB 36
  • 89.72 (n)
  • 91.32 (a)
SPTB 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTB 36
  • 88.43 (n)
  • 91.05 (a)
SPTB 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptb 36
  • 87.18 (n)
  • 90.89 (a)
Sptb 16
Sptb 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTB 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTB 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptb 36
  • 87.22 (n)
  • 90.78 (a)
chicken
(Gallus gallus)
Aves SPTB 36
  • 70.21 (n)
  • 63.49 (a)
SPTB 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPTB 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489265 36
  • 62.05 (n)
  • 61.39 (a)
zebrafish
(Danio rerio)
Actinopterygii sptb 37
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta beta-Spec 37
  • 48 (a)
OneToMany
bgr-Spec 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-70 37
  • 45 (a)
OneToMany
M116.5 38
  • 42 (a)
unc-70 38
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToMany
Species with no ortholog for SPTB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SPTB Gene

ENSEMBL:
Gene Tree for SPTB (if available)
TreeFam:
Gene Tree for SPTB (if available)

Paralogs for SPTB Gene

Selected SIMAP similar genes for SPTB Gene using alignment to 4 proteins:

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

Variants for SPTB Gene

Sequence variations from dbSNP and Humsavar for SPTB Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs2828 -- 64,869,332(-) AGTTC(A/C)TATAA intron-variant
rs4049 -- 64,812,400(-) CTTGC(G/T)CTCTC intron-variant
rs92070 -- 64,773,159(+) AGTGA(C/T)GGCTG intron-variant
rs94788 -- 64,763,640(-) CCTGC(A/G)TGATT intron-variant
rs94789 -- 64,763,599(-) TCCGC(A/G)CTCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2748779 CNV Deletion 23290073
dgv1944n71 CNV Loss 21882294
esv2235568 CNV Deletion 18987734
nsv902025 CNV Loss 21882294
nsv519823 CNV Loss 19592680
dgv639e1 CNV Complex 17122850
nsv516768 CNV Gain 19592680
nsv521286 CNV Loss 19592680

Relevant External Links for SPTB Gene

HapMap Linkage Disequilibrium report
SPTB
Human Gene Mutation Database (HGMD)
SPTB

Disorders for SPTB Gene

UniProtKB/Swiss-Prot

SPTB1_HUMAN
  • Elliptocytosis 3 (EL3) [MIM:182870]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269 PubMed:1975598, ECO:0000269 PubMed:7883966, ECO:0000269 PubMed:8018926, ECO:0000269 PubMed:8226774}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spherocytosis 2 (SPH2) [MIM:182870]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for SPTB Gene

(20) Novoseek inferred disease relationships for SPTB Gene

Disease -log(P) Hits PubMed IDs
elliptocytosis hereditary 93.7 19
spherocytosis hereditary 91.2 14
pyropoikilocytosis, hereditary 86.9 1
spherocytosis 77 2
anemia hemolytic congenital 69.7 1

Relevant External Links for SPTB

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

Publications for SPTB Gene

  1. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. (PMID: 2056132) Garbarz M. … Forget B.G. (J. Clin. Invest. 1991) 3 4 23
  2. A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. (PMID: 1840591) Gallagher P.G. … Forget B.G. (J. Biol. Chem. 1991) 3 4 23
  3. Full-length sequence of the cDNA for human erythroid beta-spectrin. (PMID: 2195026) Winkelmann J.C. … Forget B.G. (J. Biol. Chem. 1990) 3 4 23
  4. Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization. (PMID: 2209094) Fukushima Y. … Shows T.B. (Cytogenet. Cell Genet. 1990) 2 3 23
  5. Beta spectrin Kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. (PMID: 8102379) Becker P.S. … Forget B.G. (J. Clin. Invest. 1993) 3 4 23

Products for SPTB Gene

Sources for SPTB Gene

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