• Gene id: 84888

Gene Summary

• Gene Symbol: SPPL2A   Gene   UCSC   Ensembl
• Aliases: IMP3, PSL2
• Gene name: signal peptide peptidase like 2A
• Alternate names: signal peptide peptidase-like 2A, IMP-3, SPP-like 2A, intramembrane cleaving protease, intramembrane protease 3, presenilin-like protein 2,
• Gene location: 15q21.2 (50765711: 50702265)     Exons: 16     NC_000015.10
• Gene summary(Entrez): 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 (SP
• OMIM: 608238

Protein Summary

• Protein general information: Q8TCT8  
  • Name: Signal peptide peptidase like 2A (SPP like 2A) (SPPL2a) (EC 3.4.23. ) (Intramembrane protease 3) (IMP 3) (Presenilin like protein 2)
  • Length: 520  
  • Mass: 58143
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MGPQRRLSPAGAALLWGFLLQLTAAQEAILHASGNGTTKDYCMLYNPYWTALPSTLENATSISLMNLTSTPLCNL
  SDIPPVGIKSKAVVVPWGSCHFLEKARIAQKGGAEAMLVVNNSVLFPPSGNRSEFPDVKILIAFISYKDFRDMNQ
  TLGDNITVKMYSPSWPNFDYTMVVIFVIAVFTVALGGYWSGLVELENLKAVTTEDREMRKKKEEYLTFSPLTVVI
  FVVICCVMMVLLYFFYKWLVYVMIAIFCIASAMSLYNCLAALIHKIPYGQCTIACRGKNMEVRLIFLSGLCIAVA
  VVWAVFRNEDRWAWILQDILGIAFCLNLIKTLKLPNFKSCVILLGLLLLYDVFFVFITPFITKNGESIMVELAAG
  PFGNNEKLPVVIRVPKLIYFSVMSVCLMPVSILGFGDIIVPGLLIAYCRRFDVQTGSSYIYYVSSTVAYAIGMIL
  TFVVLVLMKKGQPALLYLVPCTLITASVVAWRRKEMKKFWKGNSYQMMDHLDCATNEENPVISGEQIVQQ

• Structural information:
  • Protein Domains: (63..15-)
    (/note="PA"-)
  • Interpro: IPR003137  IPR007369  IPR006639  IPR033151  
  • STRING: ENSP00000261854
• Other Databases: GeneCards:  SPPL2A  Malacards:  SPPL2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0030660	Golgi-associated vesicle membrane	IBA	cellular component
GO:0033619	membrane protein proteolysis	IBA	biological process
GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane	IBA	cellular component
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IBA	molecular function
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	IBA	cellular component
GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030660	Golgi-associated vesicle membrane	IDA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	IDA	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	IDA	biological process
GO:0031293	membrane protein intracellular domain proteolysis	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0050776	regulation of immune response	IMP	biological process
GO:0031293	membrane protein intracellular domain proteolysis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0050776	regulation of immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	IEA	biological process
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881