SPPL2B - signal peptide peptidase like 2B Gene

Homo sapiens

Also known as IMP4; PSH4; PSL1; IMP-4

Gene ID: 56928 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aspartic endopeptidase activity, intramembrane cleaving	IDA IDA: Inferred from direct assay	2313285	GOA
NOT enables aspartic endopeptidase activity, intramembrane cleaving	IMP IMP: Inferred from mutant phenotype	16873890	GOA
enables aspartic endopeptidase activity, intramembrane cleaving	IMP IMP: Inferred from mutant phenotype	19114711	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	2313285	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15385547	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	16829951	GOA
involved in membrane protein intracellular domain proteolysis	IDA IDA: Inferred from direct assay	16829951	GOA
involved in membrane protein intracellular domain proteolysis	IMP IMP: Inferred from mutant phenotype	16829952	GOA
involved in membrane protein proteolysis	IDA IDA: Inferred from direct assay	2313285	GOA
involved in regulation of immune response	IMP IMP: Inferred from mutant phenotype	16829952	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi-associated vesicle membrane	IDA IDA: Inferred from direct assay	17965014	GOA
located in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	15998642	GOA
located in lumenal side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	15998642	GOA
located in membrane	IDA IDA: Inferred from direct assay	2313285	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16829952	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

signal peptide peptidase-like 2B

SPP-like 2B

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111360	SPL-707	Inhibitor	99.94%	Unkown
HY-RS13705	SPPL2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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