SPTB - spectrin beta, erythrocytic Gene

Also Known as EL3; HS2; SPH2; HSPTB1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6710

About SPTB

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:64,746,283-64,879,907 (from NCBI)

This gene has 7 transcripts (splice variants), 198 orthologues, 36 paralogues and is associated with 4 phenotypes. Biased expression in bone marrow (RPKM 15.7), heart (RPKM 8.2) and 8 other tissues.

Summary

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]

SPTB Products (3)

mRNA	Protein	Name
NM_001024858.4	NP_001020029.1	spectrin beta chain, erythrocytic isoform a
NM_001355436.2	NP_001342365.1	spectrin beta chain, erythrocytic isoform a
NM_001355437.2	NP_001342366.1	spectrin beta chain, erythrocytic isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	16060676	GOA
enables ankyrin binding	IPI IPI: Inferred from physical interaction	8159688	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10751147	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in modification of postsynaptic actin cytoskeleton	IDA IDA: Inferred from direct assay	21297961	GOA
involved in modification of postsynaptic actin cytoskeleton	IMP IMP: Inferred from mutant phenotype	21297961	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	10867799	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	21297961	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	21297961	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	16060676	GOA
located in spectrin-associated cytoskeleton	IDA IDA: Inferred from direct assay	379653	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPTB Protein Structure

Spectrin

0
400
800
1200
1600
2000
2137 a.a.

Protein Preferred Names	Protein Names
spectrin beta chain, erythrocytic	Sp beta

SPTB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTB	P11277	SPTA1	Homo sapiens	P02549	CD	20197550
Intra	SPTB	P11277	SPTA1	Homo sapiens	P02549	Solution Sedimentation	20197550

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spherocytosis, Type 2	Hereditary Spherocytosis Type 2 SPH2 Spherocytosis, Hereditary, 2 Hs2 Hereditary Spherocytosis 2 Spherocytosis 2 Spherocytosis, Type 2, Autosomal Dominant
Elliptocytosis 3	EL3 Elliptocytosis-3 Anemia, Neonatal Hemolytic, Fatal Or Near-Fatal Elliptocytosis Rhesus-Unlinked Type Ovalocytosis Elliptocytosis, Type 3 Elliptocytosis, Hereditary
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Pyropoikilocytosis, Hereditary	Hereditary Pyropoikilocytosis Pyropoikilocytosis HPP Pyropoikilocytosis Hereditary Hereditary Elliptocytosis
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Gnathomiasis	Gnathostomiasis Infectious Disease By Gnathostoma Gnathostomosis Wandering Swelling
Anal Spasm	Proctospasm Anorectal Spasm Rectal Spasm
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Volkmann Contracture	Ischemic Contracture Volkmann'S Ischemic Contracture
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Axonal Neuropathy
Angiostrongyliasis	A. Cantonensis Angiostrongyliasis
Spinocerebellar Ataxia, Autosomal Recessive 8	Arca1 Autosomal Recessive Cerebellar Ataxia Type 1 SCAR8 Autosomal Recessive Spinocerebellar Ataxia 8 Autosomal Recessive Ataxia, Beauce Type Recessive Ataxia Of Beauce Syne1-Related Autosomal Recessive Cerebellar Ataxia Ataxia, Recessive, Of Beauce Cerebellar Ataxia, Autosomal Recessive, Type 1 Spinocerebellar Ataxia Autosomal Recessive 8 Autosomal Recessive Ataxia Beauce Type Spinocerebellar Ataxia, Autosomal Recessive, 8 Ataxia Recessive Of Beauce Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Intellectual Developmental Disorder, X-Linked 109	Fraxe Syndrome Fragile Xe Syndrome Mental Retardation, X-Linked, Fraxe Type XLID109 Mrx109 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Fraxe Mental Retardation Syndrome X-Linked Intellectual Developmental Disorder 109 Fraxe Intellectual Disability Fraxe Mental Retardation, X-Linked 109 Fragile Site On Chromosome Xq28 Fragile Site, Folic Acid Type X-Linked Intellectual Disability Associated With Fragile Site Fraxe Fraxe Intellectual Deficit Intellectual Disability Associated With Fragile Site Fraxe
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13731	SPTB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SPTB	VGNC	VGNC:35252
Macaca mulatta	SPTB	VGNC	VGNC:77870
Mus musculus	SPTB	MGD	MGI:98387
Canis familiaris	SPTB	VGNC	VGNC:46774
Felis catus	SPTB	VGNC	VGNC:80834
Rattus norvegicus	SPTB	RGD	RGD:1303243
Others	SPTB	NCBI