IMMP2L (inner mitochondrial membrane peptidase subunit 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83943
Gene name Gene Name - the full gene name approved by the HGNC.
Inner mitochondrial membrane peptidase subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IMMP2L
Synonyms (NCBI Gene) Gene synonyms aliases
IMMP2L-IT1, IMP2, IMP2-LIKE
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(39)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605977 14598 ENSG00000184903
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Protein export  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 19401682
Diffuse lymphoma Diffuse Large B-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 27356265
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 28991256, 28540026, 31374203, 25056061, 26198764, 31268507, 29483656, 30285260
Tourette syndrome NON RARE IN EUROPE: Tourette syndrome rs193302861, rs191284403, rs267606861
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS
Diabetes Diabetes GWAS
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining
Disease Name Relationship Type References
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