• Gene id: 83943

Gene Summary

• Gene Symbol: IMMP2L   Gene   UCSC   Ensembl
• Aliases: IMMP2L-IT1, IMP2, IMP2-LIKE
• Gene name: inner mitochondrial membrane peptidase subunit 2
• Alternate names: mitochondrial inner membrane protease subunit 2, IMP2 inner mitochondrial membrane peptidase-like, IMP2 inner mitochondrial membrane protease-like, inner mitochondrial membrane peptidase 2 like,
• Gene location: 7q31.1 (111562530: 110662643)     Exons: 23     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of t
• OMIM: 605977

Protein Summary

• Protein general information: Q96T52  
  • Name: Mitochondrial inner membrane protease subunit 2 (EC 3.4.21. ) (IMP2 like protein)
  • Length: 175  
  • Mass: 19718
  • Tissue specificity: Expressed in all tissues tested except adult liver and lung. {ECO
• Sequence:

  MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQPSLNPGGSQSSDVVLLNHWKVRNFEVHRGD
  IVSLVSPKNPEQKIIKRVIALEGDIVRTIGHKNRYVKVPRGHIWVEGDHHGHSFDSNSFGPVSLGLLHAHATHIL
  WPPERWQKLESVLPPERLPVQREEE

• Structural information:
  • Interpro: IPR037730  IPR036286  IPR000223  IPR019758  IPR015927  
  • Prosite: PS00761
  • STRING: ENSP00000384966
• Other Databases: GeneCards:  IMMP2L  Malacards:  IMMP2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033108	mitochondrial respiratory chain complex assembly	IBA	biological process
GO:0006627	protein processing involved in protein targeting to mitochondrion	IBA	biological process
GO:0042720	mitochondrial inner membrane peptidase complex	IBA	cellular component
GO:0006465	signal peptide processing	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006627	protein processing involved in protein targeting to mitochondrion	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042720	mitochondrial inner membrane peptidase complex	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:0006627	protein processing involved in protein targeting to mitochondrion	IEA	biological process
GO:0006801	superoxide metabolic process	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0030728	ovulation	IEA	biological process
GO:0033108	mitochondrial respiratory chain complex assembly	IEA	biological process
GO:0061300	cerebellum vasculature development	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0042720	mitochondrial inner membrane peptidase complex	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008233	peptidase activity	ISS	molecular function
GO:0042720	mitochondrial inner membrane peptidase complex	ISS	cellular component
GO:0006627	protein processing involved in protein targeting to mitochondrion	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03060	Protein export

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
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