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. Alternative... See more...

Aliases for SPTB Gene

Aliases for SPTB Gene

  • Spectrin Beta, Erythrocytic 2 3 5
  • Spectrin Beta Chain, Erythrocytic 3 4
  • Beta-I Spectrin 3 4
  • 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
  • SPTB 5
  • 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 Signaling by GPCR. 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 Summary 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 , Rfam classification and piRNA Summary for SPTB Gene

Genomics for SPTB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPTB Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPTB

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

Genomic Locations for SPTB Gene

Latest Assembly
chr14:64,744,106-64,879,907
(GRCh38/hg38)
Size:
135,802 bases
Orientation:
Minus strand

Previous Assembly
chr14:65,213,001-65,346,625
(GRCh37/hg19 by Entrez Gene)
Size:
133,625 bases
Orientation:
Minus strand

chr14:65,213,002-65,346,601
(GRCh37/hg19 by Ensembl)
Size:
133,600 bases
Orientation:
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:
    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.
    • [Isoform 3]: Due to exon skipping.

    Three dimensional structures from OCA and Proteopedia for SPTB Gene

    Alternative splice isoforms for SPTB Gene

    UniProtKB/Swiss-Prot:

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.
  • (Microbial infection) Probably cleaved by P.falciparum SERA6; the cleavage results in SPTB solubilisation causing the disruption of the actin cytoskeleton and the rupture of the erythrocyte cell membrane releasing the merozoites.
  • Glycosylation at Ser671, Ser767, Ser1297, Ser1652, and Ser1936
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SPTB1_HUMAN (2860)

No data available for DME Specific Peptides for SPTB Gene

Domains & Families for SPTB Gene

Gene Families for SPTB Gene

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

Protein Domains for SPTB Gene

InterPro:
Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat

Suggested Antigen Peptide Sequences for SPTB Gene

GenScript: Design optimal peptide antigens:
  • Beta-spectrin (A1YZ73_HUMAN)
  • Spectrin, beta, erythrocytic (B2RMN7_HUMAN)
  • Beta-spectrin (O14724_HUMAN)
  • Beta-spectrin (O14725_HUMAN)
  • Beta-spectrin (O14726_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11277

UniProtKB/Swiss-Prot:

SPTB1_HUMAN :
  • Belongs to the spectrin family.
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:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 10751147
GO:0005543 phospholipid binding IEA --
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

miRNA for SPTB Gene

miRTarBase miRNAs that target SPTB

Inhibitory RNAs for research

  • 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

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 SPTB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 3
golgi apparatus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IEA --
GO:0008091 spectrin TAS,IEA --
genes like me logo Genes that share ontologies with SPTB: view

Pathways & Interactions for SPTB Gene

PathCards logo

SuperPathways for SPTB Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Sertoli-Sertoli Cell Junction Dynamics
.38
.36
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with SPTB: view

Pathways by source for SPTB Gene

2 Qiagen pathways for SPTB Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics

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

(6) Drugs for SPTB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) 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

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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
SPTB

Expression for SPTB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPTB

SOURCE GeneReport for Unigene cluster for SPTB Gene:

Hs.417303

Evidence on tissue expression from TISSUES for SPTB Gene

  • Blood(5)
  • Heart(5)
  • Liver(5)
  • Muscle(4.5)
  • Kidney(3.7)
  • Adrenal gland(3.7)
  • Nervous system(3.6)
  • Pancreas(3.5)
  • Eye(3.4)
  • Lung(2.9)
  • Intestine(2.6)
  • Bone marrow(2.3)
  • Gall bladder(2)

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

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

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia SPTB 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SPTB 29 30
  • 89.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPTB 29 30
  • 88.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sptb 29
  • 87.22 (n)
Mouse
(Mus musculus)
Mammalia Sptb 29 16 30
  • 87.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SPTB 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SPTB 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPTB 29 30
  • 70.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SPTB 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489265 29
  • 62.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii sptb 30
  • 61 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta &bgr;-Spec 31
  • 50 (a)
beta-Spec 30
  • 48 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-70 30 31
  • 45 (a)
OneToMany
M116.5 31
  • 42 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToMany
Species where no ortholog for SPTB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPTB: view image
Alliance of Genome Resources:
Additional Orthologs for SPTB

Paralogs for SPTB Gene

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

  • SPTB1_HUMAN
  • A1YZ73_HUMAN
  • B2RMN7_HUMAN
  • H0YJE6_HUMAN
genes like me logo Genes that share paralogs with SPTB: view

Variants for SPTB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPTB Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1001219 Uncertain Significance: not provided 64,771,033(-) C/T
NM_001355436.2(SPTB):c.5650G>A (p.Ala1884Thr)
MISSENSE
1012836 Likely Benign: not provided 64,773,274(-) T/C
NM_001355436.2(SPTB):c.5124A>G (p.Glu1708=)
SYNONYMOUS
1013045 Likely Pathogenic: not provided 64,802,225(-) C/T
NM_001355436.2(SPTB):c.566+1G>A
SPLICE_DONOR
1028696 Uncertain Significance: Elliptocytosis 3 64,782,451(-) T/C
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)
MISSENSE
1028697 Uncertain Significance: Elliptocytosis 3 64,767,701(-) A/C
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPTB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
SPTB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPTB
Leiden Open Variation Database (LOVD)
SPTB

SNP Genotyping and Copy Number Assays for research

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

Disorders for SPTB Gene

MalaCards: The human disease database

(19) MalaCards diseases for SPTB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
spherocytosis, type 2
  • sph2
elliptocytosis 3
  • el3
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
hemolytic anemia
  • anemia hemolytic
pyropoikilocytosis, hereditary
  • hpp
- elite association - COSMIC cancer census association via MalaCards
Search SPTB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPTB1_HUMAN
  • Elliptocytosis 3 (EL3) [MIM:617948]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269 PubMed:1975598, ECO:0000269 PubMed:7883966, ECO:0000269 PubMed:8018926, ECO:0000269 PubMed:8226774}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for SPTB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SPTB: view

No data available for Genatlas for SPTB Gene

Publications for SPTB Gene

  1. 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 72
  2. 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
  3. In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner. (PMID: 15065869) Tang HY … Speicher DW (Biochemistry 2004) 3 4 22
  4. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PMID: 8844207) Maillet P … Delaunay J (Human mutation 1996) 3 4 22
  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

Products for SPTB Gene

Sources for SPTB Gene