1. Gene
  2. SPPL2A - signal peptide peptidase like 2A Gene

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

SPPL2A Protein Structure

PA

PA: PA domain (63 - 151)

Peptidase_A22B

Peptidase_A22B: Signal peptide peptidase (212 - 491)

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  • 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

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