2. Gene
  3. ITM2C - integral membrane protein 2C Gene

ITM2C - integral membrane protein 2C Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：整合膜蛋白 2C

种属: Homo sapiens

同用名: E25; BRI3; E25C; ITM3; BRICD2C

基因 ID: 81618 | 基因类型: protein coding

关于 ITM2C

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,864,185-230,879,254 (from NCBI)

This gene has 10 transcripts (splice variants), 268 orthologues and 2 paralogues. Broad expression in colon (RPKM 478.6), brain (RPKM 266.8) and 17 other tissues.

功能概要

启用淀粉样蛋白-β 结合活性。参与神经元投射发育和神经元分化的负调节。位于多种细胞成分中，包括高尔基体；溶酶体；和细胞质的核周区。 [由基因组资源联盟提供，2022 年 4 月]

Enables amyloid-beta binding activity. Involved in negative regulation of neuron projection development and neuron differentiation. Located in several cellular components, including Golgi apparatus; lysosome; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ITM2C 基因产物(5)

mRNA Protein Name
NM_001012514.3 NP_001012532.1 integral membrane protein 2C isoform 3
NM_001012516.2 NP_001012534.1 integral membrane protein 2C isoform 2
NM_001287240.2 NP_001274169.1 integral membrane protein 2C isoform 4
NM_001287241.2 NP_001274170.1 integral membrane protein 2C isoform 1
NM_030926.6 NP_112188.1 integral membrane protein 2C isoform 1
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
18452648 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of neuron projection development IDA
IDA: 通过直接分析推断
18452648 GOA
involved in neuron differentiation IDA
IDA: 通过直接分析推断
18452648 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in lysosome IDA
IDA: 通过直接分析推断
14592447 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
18452648 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

ITM2C 蛋白结构

BRICHOS

BRICHOS: BRICHOS domain (136 - 230)

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

integral membrane protein 2C

BRICHOS domain containing 2C

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06985 ITM2C Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ITM2C VGNC VGNC:73800
Rattus norvegicus ITM2C RGD RGD:1309503
Felis catus ITM2C VGNC VGNC:67866
Canis familiaris ITM2C VGNC VGNC:42151
Mus musculus ITM2C MGD MGI:1927594
Bos taurus ITM2C VGNC VGNC:30341
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