IMMP2L
Mitochondrial inner membrane protease subunit 2
Also known as: IMMP2L-IT1, IMP2, IMP2L_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96T52
- Gene
- IMMP2L
- Ensembl
- ENSG00000184903
- Chromosome
- 7
- Canonical length
- 175 aa
- Protein class
- Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Mitochondria,Flagellar centriole,Principal piece,End piece
OverviewNCBI 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 the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]
Canonical amino-acid sequenceUniProt
175 residues, UniProt reviewed canonical sequence.
>Q96T52|IMMP2L
1 MAQSQGWVKR YIKAFCKGFF VAVPVAVTFL DRVACVARVE GASMQPSLNP GGSQSSDVVL
61 LNHWKVRNFE VHRGDIVSLV SPKNPEQKII KRVIALEGDI VRTIGHKNRY VKVPRGHIWV
121 EGDHHGHSFD SNSFGPVSLG LLHAHATHIL WPPERWQKLE SVLPPERLPV QREEELocalizationUniProt · AlphaFold · HPA
Whether an antibody against IMMP2L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- kidney: 32 nTPM
- skeletal muscle: 26 nTPM
- liver: 24 nTPM
- tongue: 24 nTPM
- thyroid gland: 22 nTPM
- blood vessel: 21 nTPM
Single-cell type
- retinal pigment epithelial cells: 2,213 nCPM
- renal connecting tubule cells: 2,092 nCPM
- pituicytes/fscs: 1,916 nCPM
- renal collecting duct principal cells: 1,682 nCPM
- loop of henle epithelial cells: 1,648 nCPM
- choroid plexus epithelial cells: 1,586 nCPM
Immune cell
- NK-cell: 47 nTPM
- naive B-cell: 39 nTPM
- memory B-cell: 29 nTPM
- naive CD4 T-cell: 25 nTPM
- plasmacytoid DC: 21 nTPM
- MAIT T-cell: 20 nTPM
Brain region
- choroid plexus: 27 nTPM
- white matter: 23 nTPM
- basal ganglia: 23 nTPM
- hypothalamus: 23 nTPM
- cerebral cortex: 21 nTPM
- midbrain: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IMMP2L.
Disease | AllUniProt
Conditions IMMP2L is implicated in, by any mechanism.
- Gilles de la Tourette syndrome (GTS) MIM:137580
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.2
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.17
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blood circulation
- brain development
- DNA damage response
- mitochondrial respiratory chain complex assembly
- ovarian follicle development
- ovulation
- protein processing involved in protein targeting to mitochondrion
- respiratory electron transport chain
- signal peptide processing
- spermatogenesis
- superoxide metabolic process
- cerebellum vasculature development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Peptidase S26A, signal peptidase I
- Peptidase S26
- Peptidase S26A, signal peptidase I, conserved site
- LexA/Signal peptidase-like superfamily
- Signal peptidase, peptidase S26
- Mitochondrial inner membrane protease subunit 2
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IMMP2L as an antibody target. Whether an autoantibody or antibody against IMMP2L could matter depends on whether native IMMP2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IMMP2L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IMMP2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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