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Aliases for SPTB Gene

Aliases for SPTB Gene

  • Spectrin Beta, Erythrocytic 2 3 5
  • Beta-I Spectrin 3 4
  • Spectrin Beta Chain, Erythrocytic 3
  • Spectrin Beta Chain, Erythrocyte 3
  • Spherocytosis, Clinical Type I 2
  • Membrane Cytoskeletal Protein 3
  • Spectrin Beta Tandil 3
  • Sp Beta 3
  • HSPTB1 3
  • SPTB1 4
  • SPH2 3
  • EL3 3
  • HS2 3

External Ids for SPTB Gene

Previous GeneCards Identifiers for SPTB Gene

  • GC14M062543
  • GC14M059009
  • GC14M063205
  • GC14M064284
  • GC14M065213
  • GC14M045384

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 Sptb-Related Spherocytosis and Elliptocytosis 3. Among its related pathways are RET signaling and Innate Immune System. GO annotations related to this gene include protein heterodimerization activity and actin filament binding. An important paralog of this gene is SPTBN1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTB Gene

Genomics for SPTB Gene

Regulatory Elements for SPTB Gene

Enhancers for SPTB 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
GH14G064822 1.4 Ensembl ENCODE dbSUPER 18 +53.7 53714 7.9 PKNOX1 FOXA2 ZNF2 ZNF48 RAD21 TCF12 GLIS2 EGR1 ZNF143 ETV6 CHURC1 SPTB RPPH1-2P CHURC1-FNTB GPX2 RAB15 PIR49393 GC14M064872
GH14G064878 1.6 FANTOM5 ENCODE dbSUPER 14 +0.1 82 2.2 PKNOX1 FEZF1 TCF12 GLIS2 GATA2 KDM4B SP3 ZNF592 GLIS1 MXD3 SPTB CHURC1 RAB15 GC14M064872
GH14G064760 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.3 +116.7 116667 4.6 HDGF PKNOX1 FOXA2 AGO1 SIN3A ARID4B DMAP1 ZBTB7B YY1 CBX5 SPTB CHURC1 PLEKHG3 PIR60020 GC14P064746 MIR7855
GH14G064926 0.9 Ensembl ENCODE 10.6 -48.7 -48718 4.5 MTA2 MAFG FEZF1 ZIC2 ZBTB7B ZNF707 CBX5 ZNF585B IKZF1 NFE2 CHURC1 SPTB GC14P064933 CHURC1-FNTB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPTB on UCSC Golden Path with GeneCards custom track

Promoters for SPTB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069686 -307 1201 PKNOX1 FEZF1 TCF12 GLIS2 GATA2 KDM4B SP3 ZNF592 MYNN GLIS1

Genomic Location for SPTB Gene

64,746,283 bp from pter
64,879,893 bp from pter
133,611 bases
Minus strand

Genomic View for SPTB Gene

Genes around SPTB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPTB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTB Gene

Proteins for SPTB Gene

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

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

    Protein attributes for SPTB Gene

    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.
    • 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


neXtProt entry for SPTB Gene

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
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPTB Gene

Domains & Families for SPTB Gene

Suggested Antigen Peptide Sequences for SPTB Gene

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 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:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 10751147
GO:0030506 ankyrin binding IPI 8159688
genes like me logo Genes that share ontologies with SPTB: view
genes like me logo Genes that share phenotypes with SPTB: view

Human Phenotype Ontology for SPTB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SPTB Gene

miRTarBase miRNAs that target SPTB

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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

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 SPTB gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
golgi apparatus 5
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 IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with SPTB: view

Pathways & Interactions for SPTB 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 SPTB: view

Gene Ontology (GO) - Biological Process for SPTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007411 axon guidance TAS --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SPTB: view

No data available for SIGNOR curated interactions for SPTB Gene

Drugs & Compounds for SPTB Gene

(7) Drugs for SPTB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for SPTB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SPTB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPTB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x23.0) and Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for SPTB Gene

This gene is overexpressed in Neutrophil (42.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPTB Gene

Protein tissue co-expression partners for SPTB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPTB Gene:


SOURCE GeneReport for Unigene cluster for SPTB Gene:


Evidence on tissue expression from TISSUES for SPTB Gene

  • Blood(5)
  • Heart(5)
  • Liver(5)
  • Muscle(4.5)
  • Adrenal gland(3.5)
  • Kidney(3.5)
  • Pancreas(3.3)
  • Nervous system(3.3)
  • Eye(2.9)
  • Lung(2.9)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with SPTB: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SPTB Gene

Orthologs for SPTB Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SPTB 35
  • 99 (a)
(Bos Taurus)
Mammalia SPTB 34 35
  • 89.72 (n)
(Canis familiaris)
Mammalia SPTB 34 35
  • 88.43 (n)
(Rattus norvegicus)
Mammalia Sptb 34
  • 87.22 (n)
(Mus musculus)
Mammalia Sptb 34 16 35
  • 87.18 (n)
(Monodelphis domestica)
Mammalia SPTB 35
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia SPTB 35
  • 81 (a)
(Gallus gallus)
Aves SPTB 34 35
  • 70.21 (n)
(Anolis carolinensis)
Reptilia SPTB 35
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489265 34
  • 62.05 (n)
(Danio rerio)
Actinopterygii sptb 35
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta bgr-Spec 36
  • 50 (a)
beta-Spec 35
  • 48 (a)
(Caenorhabditis elegans)
Secernentea unc-70 36 35
  • 48 (a)
M116.5 36
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
Species where no ortholog for SPTB was found in the sources mined by GeneCards:
  • 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

Gene Tree for SPTB (if available)
Gene Tree for SPTB (if available)

Paralogs for SPTB Gene

(15) 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
rs121918645 Pathogenic, Elliptocytosis 3 (EL3) [MIM:182870] 64,767,725(-) ATGAG(C/G)CTTTT reference, missense
rs121918646 Pathogenic, Spherocytosis 2 (SPH2) [MIM:616649] 64,801,797(-) CCAGC(C/T)GGAAG reference, missense
rs121918647 Pathogenic, Elliptocytosis 3 (EL3) [MIM:182870] 64,767,829(-) GGATG(C/G)CTCTG reference, missense
rs121918648 Pathogenic, Elliptocytosis 3 (EL3) [MIM:182870] 64,767,827(-) ATGCC(C/T)CTGTG reference, missense
rs121918649 Pathogenic, Elliptocytosis 3 (EL3) [MIM:182870] 64,767,808(-) GTGGC(G/T)GATTG reference, missense

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

Variant ID Type Subtype PubMed ID
esv2235568 CNV deletion 18987734
esv2748779 CNV deletion 23290073
esv2759994 CNV loss 17122850
esv3581228 CNV loss 25503493
esv7583 CNV gain 19470904
nsv1035833 CNV gain 25217958
nsv1125357 OTHER inversion 24896259
nsv473727 CNV novel sequence insertion 20440878
nsv516768 CNV gain 19592680
nsv519823 CNV loss 19592680
nsv521286 CNV loss 19592680
nsv952853 CNV deletion 24416366

Variation tolerance for SPTB Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.78; 98.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPTB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SPTB Gene

MalaCards: The human disease database

(12) MalaCards diseases for SPTB Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sptb-related spherocytosis
  • spherocytosis type 2
elliptocytosis 3
  • ovalocytosis
  • pyropoikilocytosis hereditary
hereditary spherocytosis
  • spherocytosis, type 1
hereditary elliptocytosis
  • congenital elliptocytosis
- elite association - COSMIC cancer census association via MalaCards
Search SPTB in MalaCards View complete list of genes associated with diseases


  • 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:616649]: An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. {ECO:0000269 PubMed:19538529, ECO:0000269 PubMed:8102379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPTB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SPTB: view

No data available for Genatlas for SPTB Gene

Publications for SPTB Gene

  1. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. (PMID: 19538529) Maciag M. … BurzyA8ska B. (Br. J. Haematol. 2009) 3 4 22 64
  2. In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner. (PMID: 15065869) Tang H.Y. … Speicher D.W. (Biochemistry 2004) 3 4 22 64
  3. 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 22 64
  4. 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 22 64
  5. 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 22 64

Products for SPTB Gene

Sources for SPTB Gene

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