1. Gene
  2. ITM2B - integral membrane protein 2B Gene

ITM2B - integral membrane protein 2B Gene

中文名称:整合膜蛋白 2B

种属: Homo sapiens

同用名: BRI; FBD; ABRI; BRI2; E25B; E3-16; RDGCA; imBRI2; BRICD2B

基因 ID: 9445 | 基因类型: protein coding

关于 ITM2B

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:48,233,206-48,270,357 (from NCBI)

This gene has 11 transcripts (splice variants), 242 orthologues, 2 paralogues and is associated with 7 phenotypes. Ubiquitous expression in kidney (RPKM 762.1), placenta (RPKM 503.6) and 25 other tissues.

功能概要

淀粉样蛋白前体蛋白由 β-分泌酶和 γ-分泌酶加工产生 β-淀粉样肽,形成阿尔茨海默病的特征性斑块。该基因编码一种跨膜蛋白,该蛋白在 C 末端被弗林蛋白酶或弗林蛋白酶样蛋白酶加工,产生一种抑制 β-淀粉样蛋白沉积的小分泌肽。导致编码蛋白的 C 末端延伸从而增加分泌肽大小的突变与两种神经生成性疾病、家族性英国痴呆和家族性丹麦痴呆有关。[RefSeq 提供,2009 年 10 月]

Amyloid precursor proteins are processed by Beta-secretase and gamma-secretase to produce beta-amyloid Peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by Furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

ITM2B 基因产物(1)

mRNA Protein Name
NM_021999.5 NP_068839.1 integral membrane protein 2B
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 amyloid-beta binding IPI
IPI: 通过物理相互作用推断
19849849 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16027166 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of amyloid precursor protein biosynthetic process IDA
IDA: 通过直接分析推断
16027166 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi-associated vesicle membrane IDA
IDA: 通过直接分析推断
17965014 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
18524908 GOA
located in organelle membrane IDA
IDA: 通过直接分析推断
10526337 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
19114711 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

ITM2B 蛋白结构

BRICHOS

BRICHOS: BRICHOS domain (137 - 231)

  • 0
  • 100
  • 200
  • 266 a.a.
蛋白主名 其他名称

integral membrane protein 2B

ABri/ADan amyloid peptide

ITM2B 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
ITM2B Q9Y287 NAALADL2 Homo sapiens Q58DX5 25416956
种属内
ITM2B Q9Y287 NAALADL2 Homo sapiens Q58DX5 25416956
种属内
ITM2B Q9Y287 COX5B Homo sapiens P10606 34446781
种属内
ITM2B Q9Y287 COX5B Homo sapiens P10606 34446781
种属内
ITM2B Q9Y287 TMEM59L Homo sapiens Q9UK28 33961781
种属内
ITM2B Q9Y287 TMEM59L Homo sapiens Q9UK28 28514442
种属内
ITM2B Q9Y287 BACE1 Homo sapiens P56817 23701002
种属内
ITM2B Q9Y287 BACE1 Homo sapiens P56817 23701002
种属内
ITM2B Q9Y287 BACE1 Homo sapiens P56817 23701002
种属内
ITM2B Q9Y287 SLC2A9 Homo sapiens Q9NRM0-1 31695625
种属内
ITM2B Q9Y287 SLC2A9 Homo sapiens Q9NRM0-1 31695625
种属内
ITM2B Q9Y287 SLC2A9 Homo sapiens Q9NRM0-1 31695625
种属内
ITM2B Q9Y287 SLC2A9 Homo sapiens Q9NRM0-2 31695625
种属内
ITM2B Q9Y287 APP Homo sapiens P05067-8 16027166
种属内
ITM2B Q9Y287 APP Homo sapiens P05067-8 16027166
种属内
ITM2B Q9Y287 SYNE4 Homo sapiens Q8N205 25416956
种属内
ITM2B Q9Y287 SYNE4 Homo sapiens Q8N205 25416956
种属内
ITM2B Q9Y287 KASH5 Homo sapiens Q8N6L0 25416956
种属内
ITM2B Q9Y287 APP Homo sapiens P05067 16027166
种属内
ITM2B Q9Y287 APP Homo sapiens P05067 34446781
种属内
ITM2B Q9Y287 APLP2 Homo sapiens Q06481 34446781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ITM2B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70938 ITM2B Protein, Human (HEK293, His) Q9Y287 (Y76-S266 ) ≥95%

关联疾病

疾病名称 别名
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities

Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies

RDGCA

Retinal Dystrophy With Inner Nuclear Layer And Ganglion Cell Anomalies

Dystrophy, Retinal, With Inner Retinal Dysfunction And Ganglion Cell Abnormalities

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British

Fbd

Presenile Dementia With Spastic Ataxia

Familial British Dementia

Abri Amyloidosis

Cerebral Amyloid Angiopathy, British Type

Itm2b-Related Cerebral Amyloid Angiopathy 1

Familial Dementia, British Type

Cerebral Amyloid Angiopathy, Itm2b-Related 1

CAA-ITM2B1

Cerebral Amyloid Angiopathy British Type

Dementia, Familial, British

Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy

Hereditary Cerebral Hemorrhage With Amyloidosis

Hchwa

Hereditary Cystatin C Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Familial

Amyloidosis, Cerebroarterial, Icelandic Type

Amyloidosis Vi

Cerebral Hemorrhage, Hereditary, With Amyloidosis

Cst3-Related Cerebral Amyloid Angiopathy

Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant

Caa, Familial

Cerebral Amyloid Angiopathy, Genetic

Acys Amyloidosis

Cst3-Related Amyloidosis

Cystatin Amyloidosis

Hchwa, Icelandic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type

Amyloidosis 6

AMYL6

Acys

Caa

Cerebral Amyloid Angiopathy Cst3-Related

Cerebroarterial Amyloidosis Icelandic Type

Cystatin C Amyloidosis

Hccaa

Hchwai

Hchwa-I

Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type

Cerebral Amyloid Angiopathy Familial

Angiopathy, Amyloid, Cerebral, Cst3-Related

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

Familial Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Hereditary

Cerebral Amyloid Angiopathy, App-Related

Hchwad

Amyloidosis, Cerebroarterial, App-Related

Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant

Cerebral Amyloid Angiopathy, App-Related, Dutch Variant

Cerebral Amyloid Angiopathy, App-Related, Iowa Variant

Cerebral Amyloid Angiopathy, App-Related, Italian Variant

Cerebral Amyloid Angiopathy, App-Related, Flemish Variant

Cerebral Amyloid Angiopathy, App-Related, Arctic Variant

Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants

App-Related Cerebral Amyloid Angiopathy

Abetaa21g Amyloidosis

Abeta Amyloidosis, Italian Type

Abeta Amyloidosis, Arctic Type

Abeta Amyloidosis, Iowa Type

Abeta Amyloidosis, Dutch Type

Hchwa-D

Abeta Amyloidosis, Flemish Type

Abetaa21g-Related Amyloidosis

Hchwa, Flemish Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type

Abetae22k Amyloidosis

Hchwa, Italian Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type

Abetae22g Amyloidosis

Hchwa, Arctic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type

Abetad23n Amyloidosis

Hchwa, Iowa Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type

Abetal34v Amyloidosis

Abeta Amyloidosis, Piedmont Type

Abetal34v-Related Amyloidosis

Hchwa, Piedmont Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type

Abetae22q Amyloidosis

Hchwa, Dutch Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type

CAA-APP

Amyloidosis Cerebroarterial App-Related

Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant

Cerebral Amyloid Angiopathy App-Related Arctic Variant

Cerebral Amyloid Angiopathy App-Related Dutch Variant

Cerebral Amyloid Angiopathy App-Related Flemish Variant

Cerebral Amyloid Angiopathy App-Related Iowa Variant

Cerebral Amyloid Angiopathy App-Related Italian Variant

Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia

Fochs-Ladd

Hereditary Cerebral Amyloid Angiopathy Dutch Type

Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type

Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type

Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type

Amyloidosis

Amyloid Disease

Amyloid

Amyloid Degeneration

Amyloidosis Nos

Amyloid Deposition

Amyloid Infiltration

Idiopathic Amyloidosis

Hyaloid Degeneration

Lardaceous Degeneration

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Brachydactyly, Type C

Brachydactyly Type C

BDC

Brachydactyly Haws Type

Brachydactyly, Haws Type

Brachydactyly C

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ITM2B VGNC VGNC:73799
Felis catus ITM2B VGNC VGNC:102237
Rattus norvegicus ITM2B RGD RGD:620727
Canis familiaris ITM2B VGNC VGNC:42150
Mus musculus ITM2B MGD MGI:1309517
Bos taurus ITM2B VGNC VGNC:30340
Others ITM2B NCBI