SPPL2A - signal peptide peptidase like 2A Gene

Homo sapiens

Also known as IMP3; PSL2; IMD86

Gene ID: 84888 | Gene type: protein coding

About SPPL2A

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,702,266-50,765,706 (from NCBI)

This gene has 18 transcripts (splice variants), 194 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 15.8), duodenum (RPKM 10.9) and 25 other tissues.

Summary

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like Protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

SPPL2A Products(1)

mRNA	Protein	Name
NM_032802.4	NP_116191.2	signal peptide peptidase-like 2A 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
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	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 late endosome	IDA IDA: Inferred from direct assay	16829952	GOA
located in lumenal side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in membrane	IDA IDA: Inferred from direct assay	2313285	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

SPPL2A Protein Structure

Peptidase_A22B

0
100
200
300
400
520 a.a.

Protein Preferred Names

Protein Names

signal peptide peptidase-like 2A

IMP-3

Related Diseases

Diseases

Alias

Immunodeficiency 86

IMD86	Immunodeficiency 86, Mycobacteriosis, Autosomal Recessive
Immunodeficiency 86, Mycobacteriosis

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

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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111360	SPL-707	Inhibitor	99.94%	Unkown
HY-128356	SPL-410	Inhibitor	99.38%	Unkown
HY-RS13704	SPPL2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPPL2A	MGD	MGI:1913802
Felis catus	SPPL2A	VGNC	VGNC:80835
Canis familiaris	SPPL2A	VGNC	VGNC:46758
Bos taurus	SPPL2A	VGNC	VGNC:35234
Rattus norvegicus	SPPL2A	RGD	RGD:1563001

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