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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 Spherocytosis, Type 2 and Elliptocytosis 3. Among its related pathways are RET signaling and Transport to the Golgi and subsequent modification. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SPTB Gene

Promoters and enhancers for SPTB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J064878 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664 +0.1 96 2.2 PKNOX1 RB1 KLF17 FEZF1 ZEB1 ZNF335 TCF12 GLIS2 GATA2 EGR1 SPTB CHURC1 RAB15 GC14M064872 LOC105370534
GH14J064822 Enhancer 1.2 Ensembl ENCODE dbSUPER 18 +53.7 53727 7.9 PKNOX1 SIN3A ZNF2 IRF4 ZNF48 RAD21 TCF12 ZNF614 GLIS2 ARID2 CHURC1 SPTB ZBTB25 RPPH1-2P CHURC1-FNTB GPX2 ZBTB1 RAB15 PIR49393 GC14M064872
GH14J064913 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.7 -34.9 -34875 2 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 CHURC1 CHURC1-FNTB FNTB GPX2 SPTB LOC100506321 GC14P064933
GH14J064937 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 6 -61.1 -61100 6 FOXA2 MLX ARID4B DMAP1 YY1 TCF12 NFKBIZ PAF1 RXRA SP5 GC14M064940 GPX2 CHURC1 CHURC1-FNTB RPPH1-2P TEX21P RAB15 SPTB
GH14J064986 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.7 -107.3 -107324 2 HDGF PKNOX1 FOXA2 CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 GC14P064987 FNTB CHURC1 ZBTB1 SPTB ENSG00000272158 CHURC1-FNTB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPTB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTB gene promoter:
  • FOXF2
  • Olf-1
  • N-Myc
  • Ik-2
  • MyoD
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Zic1

Genomic Locations for SPTB Gene

Genomic Locations for SPTB Gene
133,625 bases
Minus strand
133,601 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

Gene Families for SPTB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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.
GENATLAS Biochemistry:
spectrin,beta,erythrocytic,intermediate filament associated protein (IFAP,type III),dimerizing and heteropolymerizing,components of the core structure of the membrane skeleton

Phenotypes From GWAS Catalog for SPTB Gene

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:0005543 phospholipid binding IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTB

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

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:0051693 actin filament capping 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

mRNA/cDNA for SPTB Gene

Unigene Clusters for SPTB Gene

Spectrin, beta, erythrocytic:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTB

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, 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

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 34
  • 99 (a)
(Bos Taurus)
Mammalia SPTB 34 33
  • 89.72 (n)
(Canis familiaris)
Mammalia SPTB 34 33
  • 88.43 (n)
(Rattus norvegicus)
Mammalia Sptb 33
  • 87.22 (n)
(Mus musculus)
Mammalia Sptb 16 34 33
  • 87.18 (n)
(Monodelphis domestica)
Mammalia SPTB 34
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia SPTB 34
  • 81 (a)
(Gallus gallus)
Aves SPTB 34 33
  • 70.21 (n)
(Anolis carolinensis)
Reptilia SPTB 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489265 33
  • 62.05 (n)
(Danio rerio)
Actinopterygii sptb 34
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta &bgr;-Spec 35
  • 50 (a)
beta-Spec 34
  • 48 (a)
(Caenorhabditis elegans)
Secernentea unc-70 34 35
  • 45 (a)
M116.5 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Evolutionary constrained regions (ECRs) for SPTB: view image

Paralogs for SPTB Gene

Paralogs for SPTB Gene

(15) SIMAP similar genes for SPTB Gene using alignment to 4 proteins:

  • A1YZ73_HUMAN
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 Variation AA Info Type
rs10132778 benign, likely-benign, not specified, Spherocytosis, Dominant, Elliptocytosis 64,782,435(-) T/C coding_sequence_variant, missense_variant
rs1047765 uncertain-significance, Spherocytosis, Dominant, Elliptocytosis 64,786,874(-) C/A/T coding_sequence_variant, missense_variant
rs114513294 uncertain-significance, Spherocytosis, Dominant, Elliptocytosis 64,772,670(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs115882528 uncertain-significance, Elliptocytosis, Spherocytosis, Dominant 64,800,825(-) A/G coding_sequence_variant, synonymous_variant
rs11622977 benign, likely-benign, not specified, Spherocytosis, Dominant, Elliptocytosis 64,767,290(-) G/A genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information for SPTB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPTB Gene

MalaCards: The human disease database

(14) MalaCards diseases for SPTB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for SPTB

Genetic Association Database
Human Genome Epidemiology 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 … Burzyńska B (British journal of haematology 2009) 3 4 22 58
  2. In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner. (PMID: 15065869) Tang HY … Speicher DW (Biochemistry 2004) 3 4 22 58
  3. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. (PMID: 8102379) Becker PS … Forget BG (The Journal of clinical investigation 1993) 3 4 22 58
  4. 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 BG (The Journal of clinical investigation 1991) 3 4 22 58
  5. 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 PG … Forget BG (The Journal of biological chemistry 1991) 3 4 22 58

Products for SPTB Gene

Sources for SPTB Gene

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