1. Gene
  2. SPPL2B - signal peptide peptidase like 2B Gene

SPPL2B - signal peptide peptidase like 2B Gene

中文名称:信号肽肽酶样 2B

种属: Homo sapiens

同用名: IMP4; PSH4; PSL1; IMP-4

基因 ID: 56928 | 基因类型: protein coding

关于 SPPL2B

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,328,684-2,355,095 (from NCBI)

This gene has 14 transcripts (splice variants), 215 orthologues and 4 paralogues. Ubiquitous expression in testis (RPKM 13.2), duodenum (RPKM 10.9) and 25 other tissues.

功能概要

该基因编码天冬氨酸蛋白酶 GXGD 家族的一个成员。 GXGD 蛋白酶是跨膜蛋白,具有两个位于跨膜区域内的保守催化基序。这种酶定位于核内体、溶酶体和质膜。它切割肿瘤坏死因子 α 的跨膜结构域以释放细胞内结构域,从而触发先天性和适应性免疫途径中的细胞因子表达。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SPPL2B 基因产物(2)

mRNA Protein Name
NM_001077238.2 NP_001070706.1 signal peptide peptidase-like 2B isoform 3 precursor
NM_152988.3 NP_694533.1 signal peptide peptidase-like 2B isoform 2 precursor
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 aspartic endopeptidase activity, intramembrane cleaving IDA
IDA: 通过直接分析推断
2313285 GOA
NOT enables aspartic endopeptidase activity, intramembrane cleaving IMP
IMP: 通过突变表型推断
16873890 GOA
enables aspartic endopeptidase activity, intramembrane cleaving IMP
IMP: 通过突变表型推断
19114711 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
2313285 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
15385547 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in membrane protein ectodomain proteolysis IDA
IDA: 通过直接分析推断
16829951 GOA
involved in membrane protein intracellular domain proteolysis IDA
IDA: 通过直接分析推断
16829951 GOA
involved in membrane protein intracellular domain proteolysis IMP
IMP: 通过突变表型推断
16829952 GOA
involved in membrane protein proteolysis IDA
IDA: 通过直接分析推断
2313285 GOA
involved in regulation of immune response IMP
IMP: 通过突变表型推断
16829952 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 cytoplasmic side of endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15385547 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
15998642 GOA
located in lumenal side of endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15385547 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
15998642 GOA
located in membrane IDA
IDA: 通过直接分析推断
2313285 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16829952 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
蛋白主名 其他名称

signal peptide peptidase-like 2B

SPP-like 2B

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus SPPL2B VGNC VGNC:35235
Rattus norvegicus SPPL2B RGD RGD:1308556
Canis familiaris SPPL2B VGNC VGNC:46759
Mus musculus SPPL2B MGD MGI:1920468
Felis catus SPPL2B VGNC VGNC:80726