• Gene id: 56928

Gene Summary

• Gene Symbol: SPPL2B   Gene   UCSC   Ensembl
• Aliases: IMP-4, IMP4, PSH4, PSL1
• Gene name: signal peptide peptidase like 2B
• Alternate names: signal peptide peptidase-like 2B, SPP-like 2B, intramembrane protease 4, presenilin homologous protein 4, presenilin-like protein 1,
• Gene location: 19p13.3 (2328570: 2355094)     Exons: 16     NC_000019.10
• Gene summary(Entrez): 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 p
• OMIM: 608239

Protein Summary

• Protein general information: Q8TCT7  
  • Name: Signal peptide peptidase like 2B (SPP like 2B) (SPPL2b) (EC 3.4.23. ) (Intramembrane protease 4) (IMP 4) (Presenilin homologous protein 4) (PSH4) (Presenilin like protein 1)
  • Length: 592  
  • Mass: 64644
  • Tissue specificity: Expressed predominantly in adrenal cortex and mammary gland. {ECO
• Sequence:

  MAAAVAAALARLLAAFLLLAAQVACEYGMVHVVSQAGGPEGKDYCILYNPQWAHLPHDLSKASFLQLRNWTASLL
  CSAADLPARGFSNQIPLVARGNCTFYEKVRLAQGSGARGLLIVSRERLVPPGGNKTQYDEIGIPVALLSYKDMLD
  IFTRFGRTVRAALYAPKEPVLDYNMVIIFIMAVGTVAIGGYWAGSRDVKKRYMKHKRDDGPEKQEDEAVDVTPVM
  TCVFVVMCCSMLVLLYYFYDLLVYVVIGIFCLASATGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLL
  ALFCVAVSVVWGVFRNEDQWAWVLQDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLYDIFFVFITPFLTKSGSS
  IMVEVATGPSDSATREKLPMVLKVPRLNSSPLALCDRPFSLLGFGDILVPGLLVAYCHRFDIQVQSSRVYFVACT
  IAYGVGLLVTFVALALMQRGQPALLYLVPCTLVTSCAVALWRRELGVFWTGSGFAKVLPPSPWAPAPADGPQPPK
  DSATPLSPQPPSEEPATSPWPAEQSPKSRTSEEMGAGAPMREPGSPAESEGRDQAQPSPVTQPGASA

• Structural information:
  • Protein Domains: (71..14-)
    (/note="PA"-)
  • Interpro: IPR003137  IPR007369  IPR006639  IPR033149  
  • STRING: ENSP00000478298
• Other Databases: GeneCards:  SPPL2B  Malacards:  SPPL2B

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:0042803	protein homodimerization activity	IDA	molecular function
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:0005765	lysosomal membrane	IDA	cellular component
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:0010008	endosome membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	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:0042500	aspartic endopeptidase activity, intramembrane cleaving	IMP	molecular function
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IMP	molecular function
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IMP	NOT|molecular function
GO:0031293	membrane protein intracellular domain proteolysis	IMP	biological process
GO:0031293	membrane protein intracellular domain proteolysis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray