IMMP2L (inner mitochondrial membrane peptidase subunit 2)

Gene

• Entrez ID: 83943
• Gene name: Inner mitochondrial membrane peptidase subunit 2
• Gene symbol: IMMP2L
• Synonyms (NCBI Gene): 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:0004175	Function	Endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	32443488
GO:0006465	Process	Signal peptide processing	IEA
GO:0006465	Process	Signal peptide processing	NAS	32443488
GO:0006508	Process	Proteolysis	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	ISS	15814844
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007420	Process	Brain development	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	ISS	15814844
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030728	Process	Ovulation	IEA
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IEA
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	IBA
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	IEA
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	ISS	15814844
GO:0042720	Component	Mitochondrial inner membrane peptidase complex	NAS	32443488
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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested except adult liver and lung. {ECO:0000269|PubMed:11254443}.
• Sequence:

  MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQPSLNPGGSQSSDVVL
  LNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVRTIGHKNRYVKVPRGHIWV
  EGDHHGHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLESVLPPERLPVQREEE

• Sequence length: 175

Pathways

KEGG:

Protein export

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOMAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMP2L-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	23421499		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22486522	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22486522		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31261900		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21996756, 33407644, 35776734	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29152845, 29788020, 31233820		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17043892, 19401682, 24599690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	19401682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19401682, 24518835, 24599690, 35776734, 38048114	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behavior Disorders	Behavior Disorders	BEFREE	29788020		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26416451		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	26889980		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24872956		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28316022		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	31555647		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23421499		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	30623622	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30623622	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19429674		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	27356265		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31209109		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	29163784		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	11254443, 17043892, 21386874, 24549057, 27932244, 29152845, 31233820		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22899010, 27184842		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22899010, 27184842		★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	31484925		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29882083	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	28207827	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	17426251		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26426686, 29859241, 31555647		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31555647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26416451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24872956		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31261900		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17426251, 22899010, 26416451, 28753127, 29859241		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23421499		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23421499, 26426686, 28753127, 29163784		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29152845		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Tourette syndrome	Tourette Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31209109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	24872956		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31261900		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31261900		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29152845, 29788020, 31233820		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30247605		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19546859	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	35776734	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	31209109, 31555647		★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	19546859, 21386874	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	28316022		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28316022		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29217458		★☆☆☆☆ Found in Text Mining only