SPTB - spectrin beta, erythrocytic Gene

中文名称：血影蛋白 β，红细胞

种属: Homo sapiens

同用名: EL3; HS2; SPH2; HSPTB1

基因 ID: 6710 | 基因类型: protein coding

关于 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.

功能概要

该基因座编码 spectrin 基因家族的成员。血影蛋白与锚蛋白一起在细胞膜组织和稳定性中发挥作用。由该基因座编码的蛋白质在红细胞膜的稳定性中发挥作用，该基因的突变与 2 型球形红细胞增多症、遗传性椭圆形红细胞增多症和新生儿溶血性贫血有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 11 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables actin filament binding	IDA IDA: 通过直接分析推断	16060676	GOA
enables ankyrin binding	IPI IPI: 通过物理相互作用推断	8159688	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10751147	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in modification of postsynaptic actin cytoskeleton	IDA IDA: 通过直接分析推断	21297961	GOA
involved in modification of postsynaptic actin cytoskeleton	IMP IMP: 通过突变表型推断	21297961	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell surface	IDA IDA: 通过直接分析推断	10867799	GOA
is active in glutamatergic synapse	IDA IDA: 通过直接分析推断	21297961	GOA
is active in glutamatergic synapse	IMP IMP: 通过突变表型推断	21297961	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	16060676	GOA
located in spectrin-associated cytoskeleton	IDA IDA: 通过直接分析推断	379653	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SPTB 蛋白结构

Spectrin

0
400
800
1200
1600
2000
2137 a.a.

蛋白主名

其他名称

spectrin beta chain, erythrocytic

Sp beta

SPTB 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SPTB	P11277	SPTA1	Homo sapiens	P02549	CD	20197550
种属内	SPTB	P11277	SPTA1	Homo sapiens	P02549	Solution Sedimentation	20197550

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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.	产品名	作用方式	纯度	是否罕见病
HY-RS13731	SPTB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SPTB - spectrin beta, erythrocytic Gene

关于 SPTB

功能概要

SPTB 基因产物(3)

SPTB 蛋白结构

SPTB 蛋白互作信息

关联疾病

直系同源

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SPTB - spectrin beta, erythrocytic Gene

关于 SPTB

功能概要

SPTB 基因产物(3)

SPTB 蛋白结构

SPTB 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z