IMMP2L

IMMP2L
Identifiers
Aliases	IMMP2L, IMMP2L-IT1, IMP2, IMP2-LIKE, inner mitochondrial membrane peptidase subunit 2
External IDs	OMIM: 605977; MGI: 2135611; HomoloGene: 6607; GeneCards: IMMP2L; OMA:IMMP2L - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q31.1 Start 110,662,644 bp[1] End 111,562,517 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 B1 Start 41,074,089 bp[2] End 42,002,371 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibialis anterior muscle deltoid muscle Achilles tendon quadriceps femoris muscle testicle vastus lateralis muscle gonad Skeletal muscle tissue of biceps brachii human kidney tibial arteries Top expressed in spermatid brown adipose tissue intercostal muscle seminiferous tubule spermatocyte left lobe of liver interventricular septum myocardium of ventricle right ventricle tunica adventitia of aorta More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity serine-type peptidase activity hydrolase activity Cellular component integral component of membrane membrane mitochondrion mitochondrial inner membrane mitochondrial inner membrane peptidase complex Biological process blood circulation protein processing involved in protein targeting to mitochondrion proteolysis cellular response to DNA damage stimulus brain development mitochondrial respiratory chain complex assembly spermatogenesis ovarian follicle development respiratory electron transport chain cerebellum vasculature development ovulation superoxide metabolic process signal peptide processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83943 93757 Ensembl ENSG00000184903 ENSMUSG00000056899 UniProt Q96T52 Q8BPT6 RefSeq (mRNA) NM_001244606 NM_032549 NM_001350959 NM_001350960 NM_001350961 NM_001350962 NM_001350963 NM_001350964 NM_053122 RefSeq (protein) NP_001231535 NP_115938 NP_001337888 NP_001337889 NP_001337890 NP_001337891 NP_001337892 NP_001337893 NP_444352 Location (UCSC) Chr 7: 110.66 – 111.56 Mb Chr 12: 41.07 – 42 Mb PubMed search [3] [4]
Wikidata
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Inner mitochondrial membrane peptidase subunit 2 (IMMP2L) is an enzyme that in humans is encoded by the IMMP2L gene on chromosome 7.^[5][6] This protein catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the intermembrane space. IMMP2L processes the nuclear encoded protein DIABLO.

The gene IMMP2L encodes protein inner mitochondrial membrane peptidase subunit 2 in human. The human IMMP2L gene has 18 exons and locates at chromosome band 7q31.^[6]

The human protein inner mitochondrial membrane peptidase subunit 2 has two isoforms due to alternative splicing. One isoform is 19.7 kDa in size and composed of 175 amino acids. The calculated theoretical pI of this protein isoform is 8.66. The other isoform is 12.3 kDa in size and composed of 110 amino acids. The calculated theoretical pI of this protein isoform is 9.42.^[7][8]

As a peptidase, this protein catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the intermembrane space. it is known to process the nuclear encoding DIABLO protein.

Tourette's syndrome is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. In the clinical characterization of a patient with Tourette's, Petek et al. discovered a breakpoint in chromosome region 7q31. Additional characterization identified that IMMP2L, a novel gene coding for the apparent human homologue of the yeast mitochondrial inner membrane peptidase subunit 2, was found to be disrupted by both the breakpoint in the duplicated fragment and the insertion site in 7q31. It is the first association of IMMP2L gene to Tourette syndrome.^[5] Recent investigation by Bertelsen et al. further indicated that IMMP2L was one of the genes as a susceptibility factor in disease pathogenesis. Tourette syndrome is often accompanied by comorbidities such as attention deficit hyperactivity disorder and obsessive–compulsive disorder. Tourette syndrome has a complex etiology, and the underlying environmental and genetic factors responsible for this disease are still largely unknown.^[9]