Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83943
Gene name	Inner mitochondrial membrane peptidase subunit 2
Gene symbol	IMMP2L
Synonyms (NCBI Gene)	IMMP2L-IT1IMP2IMP2-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

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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

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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

MIM	HGNC	e!Ensembl
605977	14598	ENSG00000184903

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

Interactions

View interactions

	KEGG
	Protein export

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs148496605	RCV005904680
Familial cancer of breast	Benign	rs148496605	RCV005904679
Gastric cancer	Benign	rs148496605	RCV005904681
IMMP2L-related disorder	Likely benign; Benign	rs1035996940, rs200836792	RCV003917109 RCV003941613
Melanoma	Benign	rs148496605	RCV005904683
Ovarian serous cystadenocarcinoma	Benign	rs148496605	RCV005904682

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	22486522
Attention Deficit Disorder with Hyperactivity	Associate	19546859
Autism Spectrum Disorder	Associate	21996756, 33407644, 35776734
Autistic Disorder	Associate	19401682, 24518835, 24599690, 35776734, 38048114
Congenital Abnormalities	Associate	30623622
Developmental Disabilities	Associate	30623622
Fatigue	Associate	23047795
Intellectual Disability	Associate	29882083
Keratoconus	Associate	28207827
Schizophrenia	Associate	19546859
Schizophrenia	Stimulate	35776734
Tourette Syndrome	Associate	19546859, 21386874

IMMP2L (inner mitochondrial membrane peptidase subunit 2)