SPTB - spectrin beta, erythrocytic Gene

Homo sapiens

Also known as EL3; HS2; SPH2; HSPTB1

Gene ID: 6710 | Gene type: protein coding

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

SPTB Protein Structure

Spectrin

0
400
800
1200
1600
2000
2137 a.a.

Protein Preferred Names

Protein Names

spectrin beta chain, erythrocytic

Sp beta

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

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