IMMP2L (inner mitochondrial membrane peptidase subunit 2)

Gene

• Entrez ID: 83943
• Gene name: Inner mitochondrial membrane peptidase subunit 2
• Gene symbol: IMMP2L
• Synonyms: IMMP2L-IT1, IMP2, IMP2-LIKE
• Chromosome: 7
• Chromosome location: 7q31.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT639234	hsa-miR-4712-5p	HITS-CLIP	23824327
MIRT639233	hsa-miR-770-5p	HITS-CLIP	23824327
MIRT639232	hsa-miR-3188	HITS-CLIP	23824327
MIRT639231	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT639230	hsa-miR-3612	HITS-CLIP	23824327
MIRT639229	hsa-miR-650	HITS-CLIP	23824327
MIRT639228	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT639227	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT639226	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT639225	hsa-miR-4443	HITS-CLIP	23824327
MIRT639224	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT639223	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT639222	hsa-miR-587	HITS-CLIP	23824327
MIRT440459	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440459	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT639234	hsa-miR-4712-5p	HITS-CLIP	23824327
MIRT639233	hsa-miR-770-5p	HITS-CLIP	23824327
MIRT639232	hsa-miR-3188	HITS-CLIP	23824327
MIRT639231	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT639230	hsa-miR-3612	HITS-CLIP	23824327
MIRT639229	hsa-miR-650	HITS-CLIP	23824327
MIRT639228	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT639227	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT639226	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT639225	hsa-miR-4443	HITS-CLIP	23824327
MIRT639224	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT639223	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT639222	hsa-miR-587	HITS-CLIP	23824327
MIRT1065605	hsa-miR-1275	CLIP-seq
MIRT1065606	hsa-miR-1305	CLIP-seq
MIRT1065607	hsa-miR-4260	CLIP-seq
MIRT1065608	hsa-miR-448	CLIP-seq
MIRT1065609	hsa-miR-4488	CLIP-seq
MIRT1065610	hsa-miR-4665-5p	CLIP-seq
MIRT1065611	hsa-miR-4697-5p	CLIP-seq
MIRT1065612	hsa-miR-4775	CLIP-seq
MIRT1065613	hsa-miR-590-3p	CLIP-seq
MIRT2247949	hsa-miR-452	CLIP-seq
MIRT2247950	hsa-miR-4676-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0006465	Process	Signal peptide processing	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA	21873635
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	ISS	15814844
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006974	Process	Cellular response to DNA damage stimulus	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007420	Process	Brain development	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008233	Function	Peptidase activity	ISS	15814844
GO:0016021	Component	Integral component of membrane	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030728	Process	Ovulation	IEA
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IBA	21873635
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	IBA	21873635
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	ISS	15814844
GO:0061300	Process	Cerebellum vasculature development	IEA

Other IDs

• MIM: 605977
• HGNC: 14598
• e!Ensembl: ENSG00000184903

Protein

• UniProt ID: Q96T52
• Protein name: Mitochondrial inner membrane protease subunit 2 (EC 3.4.21.-) (IMP2-like protein)
• Protein function: Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO. {ECO:0000269|PubMed:15
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10502	Peptidase_S26	12 → 112	Signal peptidase, peptidase S26	Domain
  PF10502	Peptidase_S26	102 → 151	Signal peptidase, peptidase S26	Domain

• Sequence:

  MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQPSLNPGGSQSSDVVL
  LNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVRTIGHKNRYVKVPRGHIWV
  EGDHHGHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLESVLPPERLPVQREEE

• Sequence length: 175

Pathways

KEGG:

Protein export

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	19401682
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	27356265
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28991256, 28540026, 31374203, 25056061, 26198764, 31268507, 29483656, 30285260
Tourette syndrome	NON RARE IN EUROPE: Tourette syndrome	rs193302861, rs191284403, rs267606861

Unknown
Disease name	Disease term	dbSNP ID	References
Development disorder	Child Development Disorders, Pervasive		28540026