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Aliases for IMMP2L Gene

Aliases for IMMP2L Gene

  • IMP2 Inner Mitochondrial Membrane Peptidase-Like (S. Cerevisiae) 2 3
  • IMP2 3 6
  • IMP2 Inner Mitochondrial Membrane Protease-Like (S. Cerevisiae) 2
  • IMMP2L Intronic Transcript 1 (Non-Protein Coding) 2
  • Mitochondrial Inner Membrane Protease Subunit 2 3
  • Inner Mitochondrial Membrane Peptidase 2 Like 3
  • IMP2-Like Protein 4
  • EC 3.4.21.- 4
  • IMMP2L-IT1 3
  • IMP2-LIKE 3
  • EC 3.4.21 63

External Ids for IMMP2L Gene

Previous HGNC Symbols for IMMP2L Gene

  • IMMP2L-IT1

Previous GeneCards Identifiers for IMMP2L Gene

  • GC07M108787
  • GC07M109851
  • GC07M109863
  • GC07M109897
  • GC07M110090
  • GC07M110303
  • GC07M104671

Summaries for IMMP2L Gene

Entrez Gene Summary for IMMP2L 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]

GeneCards Summary for IMMP2L Gene

IMMP2L (IMP2 Inner Mitochondrial Membrane Peptidase-Like (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with IMMP2L include atypical autism. Among its related pathways are Protein export. GO annotations related to this gene include peptidase activity and serine-type peptidase activity.

UniProtKB/Swiss-Prot for IMMP2L Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMMP2L Gene

Genomics for IMMP2L Gene

Genomic Location for IMMP2L Gene

Start:
110,663,050 bp from pter
End:
111,562,532 bp from pter
Size:
899,483 bases
Orientation:
Minus strand

Genomic View for IMMP2L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IMMP2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMMP2L Gene

Proteins for IMMP2L Gene

  • Protein details for IMMP2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T52-IMP2L_HUMAN
    Recommended name:
    Mitochondrial inner membrane protease subunit 2
    Protein Accession:
    Q96T52
    Secondary Accessions:
    • Q75MF1
    • Q75MN9
    • Q75MP0
    • Q75MS5
    • Q75MS8
    • Q96HJ2

    Protein attributes for IMMP2L Gene

    Size:
    175 amino acids
    Molecular mass:
    19718 Da
    Quaternary structure:
    • Heterodimer of 2 subunits, IMMPL1 and IMMPL2.

    Alternative splice isoforms for IMMP2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IMMP2L Gene

Proteomics data for IMMP2L Gene at MOPED

Selected DME Specific Peptides for IMMP2L Gene

Post-translational modifications for IMMP2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for IMMP2L Gene

Graphical View of Domain Structure for InterPro Entry

Q96T52

UniProtKB/Swiss-Prot:

IMP2L_HUMAN :
  • Q96T52
Family:
  • Belongs to the peptidase S26 family. IMP2 subfamily.
genes like me logo Genes that share domains with IMMP2L: view

No data available for Gene Families for IMMP2L Gene

Function for IMMP2L Gene

Molecular function for IMMP2L Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for IMMP2L Gene

Gene Ontology (GO) - Molecular Function for IMMP2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity ISS 15814844
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with IMMP2L: view

Animal Model Products

CRISPR Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for IMMP2L Gene

Localization for IMMP2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMMP2L Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IMMP2L Gene COMPARTMENTS Subcellular localization image for IMMP2L gene
Compartment Confidence
mitochondrion 5
nucleus 4
extracellular 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IMMP2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0042720 mitochondrial inner membrane peptidase complex ISS 15814844
genes like me logo Genes that share ontologies with IMMP2L: view

Pathways for IMMP2L Gene

SuperPathways for IMMP2L Gene

Superpath Contained pathways
1 Protein export
genes like me logo Genes that share pathways with IMMP2L: view

Pathways by source for IMMP2L Gene

1 KEGG pathway for IMMP2L Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for IMMP2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006508 proteolysis --
GO:0006627 protein processing involved in protein targeting to mitochondrion ISS 15814844
GO:0007283 spermatogenesis IEA --
GO:0030728 ovulation IEA --
genes like me logo Genes that share ontologies with IMMP2L: view

Transcripts for IMMP2L Gene

Unigene Clusters for IMMP2L Gene

IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IMMP2L

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for IMMP2L

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IMMP2L Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4: -

Relevant External Links for IMMP2L Gene

GeneLoc Exon Structure for
IMMP2L
ECgene alternative splicing isoforms for
IMMP2L

Expression for IMMP2L Gene

mRNA expression in normal human tissues for IMMP2L Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for IMMP2L Gene

SOURCE GeneReport for Unigene cluster for IMMP2L Gene Hs.731706

mRNA Expression by UniProt/SwissProt for IMMP2L Gene

Q96T52-IMP2L_HUMAN
Tissue specificity: Expressed in all tissues tested except adult liver and lung.
genes like me logo Genes that share expressions with IMMP2L: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for IMMP2L Gene

Orthologs for IMMP2L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMMP2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMMP2L 35
  • 99.81 (n)
  • 99.43 (a)
IMMP2L 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IMMP2L 35
  • 92.95 (n)
  • 94.29 (a)
IMMP2L 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMMP2L 35
  • 93.52 (n)
  • 97.14 (a)
IMMP2L 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Immp2l 35
  • 89.14 (n)
  • 91.43 (a)
Immp2l 16
Immp2l 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IMMP2L 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Immp2l 35
  • 89.52 (n)
  • 90.86 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 74 (a)
OneToMany
IMMP2L 35
  • 79.81 (n)
  • 82.86 (a)
IMMP2L 36
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia immp2l 35
  • 71.54 (n)
  • 73.68 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.23354 35
immp2l 35
  • 68.05 (n)
  • 71.01 (a)
immp2l 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007398 35
  • 58.12 (n)
  • 60.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11110 35
  • 55.97 (n)
  • 57.86 (a)
CG11110 36
  • 53 (a)
OneToOne
CG11110 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea immp-2 35
  • 50.23 (n)
  • 43.24 (a)
immp-2 36
  • 41 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR086W 35
  • 48.61 (n)
  • 43.06 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMP2 35
  • 50.93 (n)
  • 45.14 (a)
IMP2 36
  • 36 (a)
OneToOne
IMP2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27027g 35
  • 48.62 (n)
  • 45.86 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08980 35
  • 47.38 (n)
  • 37.86 (a)
rice
(Oryza sativa)
Liliopsida Os04g0165600 35
  • 45.32 (n)
  • 37.91 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC336.13c 35
  • 48.72 (n)
  • 42.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToOne
Species with no ortholog for IMMP2L:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IMMP2L Gene

ENSEMBL:
Gene Tree for IMMP2L (if available)
TreeFam:
Gene Tree for IMMP2L (if available)

Paralogs for IMMP2L Gene

Selected SIMAP similar genes for IMMP2L Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with IMMP2L: view

No data available for Paralogs for IMMP2L Gene

Variants for IMMP2L Gene

Sequence variations from dbSNP and Humsavar for IMMP2L Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs28829 -- 111,258,223(-) TATCT(C/T)CATCA intron-variant
rs37636 -- 111,331,002(+) tcgat(C/T)atgaa intron-variant
rs37637 -- 111,331,863(+) ttctg(G/T)atcca intron-variant
rs37638 -- 111,333,682(+) tcagc(G/T)gacag intron-variant
rs37639 -- 111,333,988(+) TTCTT(C/T)TAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IMMP2L Gene

Variant ID Type Subtype PubMed ID
dgv7443n71 CNV Loss 21882294
nsv464671 CNV Gain 19166990
esv2661784 CNV Deletion 23128226
nsv464673 CNV Gain 19166990
esv2671616 CNV Deletion 23128226
esv2674667 CNV Deletion 23128226
esv21685 CNV Loss 19812545
esv2421473 CNV Deletion 20811451
nsv442061 CNV CNV 18776908
nsv514439 CNV Complex 21397061
esv2672432 CNV Deletion 23128226
esv2735023 CNV Deletion 23290073
nsv888972 CNV Gain 21882294
esv273756 CNV Insertion 20981092
esv268189 CNV Insertion 20981092
esv26791 CNV Loss 19812545
nsv365322 CNV Insertion 16902084
esv273687 CNV Insertion 20981092
nsv526883 CNV Gain 19592680
dgv7444n71 CNV Loss 21882294
dgv2127e1 CNV Complex 17122850
esv2385229 CNV Deletion 18987734
esv5171 CNV Deletion 18987735
esv2735024 CNV Deletion 23290073
dgv235n6 CNV Loss 16902084
esv1010951 CNV Deletion 20482838
esv3906 CNV Deletion 18987735
esv2735025 CNV Deletion 23290073
esv2659693 CNV Deletion 23128226
esv8850 CNV Loss 19470904
esv989131 CNV Deletion 20482838
esv1139378 CNV Deletion 17803354
esv9669 CNV Gain 19470904
esv2735026 CNV Deletion 23290073
nsv11 CNV Insertion 15895083
nsv5898 CNV Insertion 18451855
esv2657607 CNV Deletion 23128226
nsv888975 CNV Loss 21882294
esv2673039 CNV Deletion 23128226
nsv824267 CNV Loss 20364138
nsv515693 CNV Gain 19592680
dgv7445n71 CNV Loss 21882294
nsv464674 CNV Loss 19166990
esv2752141 CNV Loss 17911159
nsv888977 CNV Loss 21882294
essv21989 CNV CNV 17122850
nsv428183 CNV Loss 18775914
dgv2128e1 CNV Complex 17122850
nsv464675 CNV Loss 19166990
nsv470384 CNV Loss 18288195
dgv427n21 CNV Loss 19592680
nsv437027 CNV Loss 16327808
esv26741 CNV Loss 19812545
nsv519432 CNV Loss 19592680
nsv818545 CNV Loss 17921354
esv2661413 CNV Deletion 23128226
dgv29e196 CNV Deletion 17116639
nsv888979 CNV Loss 21882294
dgv428n21 CNV Loss 19592680
esv6655 CNV Gain 19470904
esv1003541 CNV Insertion 20482838
esv1751628 CNV Insertion 17803354
esv2735030 CNV Deletion 23290073
nsv437998 CNV Loss 16468122
nsv888980 CNV Loss 21882294
nsv888981 CNV Loss 21882294
nsv888982 CNV Loss 21882294
dgv7446n71 CNV Loss 21882294
esv2667081 CNV Deletion 23128226
esv2663569 CNV Deletion 23128226
esv2599634 CNV Deletion 19546169
dgv7447n71 CNV Loss 21882294
nsv888988 CNV Loss 21882294
dgv7448n71 CNV Loss 21882294
esv2735031 CNV Deletion 23290073
nsv464676 CNV Loss 19166990
dgv7449n71 CNV Loss 21882294
dgv7450n71 CNV Loss 21882294
dgv7451n71 CNV Loss 21882294
nsv464677 CNV Loss 19166990
dgv7452n71 CNV Loss 21882294
esv2671084 CNV Deletion 23128226
nsv889004 CNV Loss 21882294
esv2670857 CNV Deletion 23128226
nsv437566 CNV Loss 16327808
esv34648 CNV Loss 17911159
dgv7453n71 CNV Loss 21882294
dgv7454n71 CNV Loss 21882294
dgv7455n71 CNV Loss 21882294
esv2673881 CNV Deletion 23128226
dgv2129e1 CNV Complex 17122850
essv2096 CNV CNV 17122850
esv2752142 CNV Loss 17911159
nsv889019 CNV Loss 21882294
nsv8201 CNV Loss 18304495
esv2673597 CNV Deletion 23128226
esv21855 CNV Loss 19812545
nsv464678 CNV Loss 19166990
dgv7456n71 CNV Loss 21882294
nsv464679 CNV Gain 19166990
nsv824268 CNV Loss 20364138
esv2659216 CNV Deletion 23128226
nsv442062 CNV CNV 18776908
esv2422088 CNV Deletion 20811451
nsv514440 CNV Loss 21397061
nsv437567 CNV Loss 16327808
nsv818546 CNV Loss 17921354
esv2665872 CNV Deletion 23128226
esv2422098 CNV Deletion 20811451
nsv442105 CNV CNV 18776908
nsv514441 CNV Loss 21397061
nsv8203 CNV Loss 18304495
esv2664781 CNV Deletion 23128226
dgv7457n71 CNV Loss 21882294
nsv824269 CNV Loss 20364138
esv268035 CNV Insertion 20981092
nsv889027 CNV Loss 21882294
nsv889029 CNV Loss 21882294
nsv464680 CNV Loss 19166990
nsv470385 CNV Loss 18288195
nsv818547 CNV Loss 17921354
nsv889030 CNV Gain 21882294
nsv8204 CNV Gain+Loss 18304495
nsv889031 CNV Loss 21882294
dgv7458n71 CNV Loss 21882294
esv7797 CNV Gain 19470904
dgv7459n71 CNV Loss 21882294
esv2658924 CNV Deletion 23128226
nsv464684 CNV Loss 19166990
nsv464685 CNV Loss 19166990
esv2735032 CNV Deletion 23290073
nsv366312 CNV Loss 16902084
nsv464686 CNV Loss 19166990
dgv7460n71 CNV Loss 21882294

Relevant External Links for IMMP2L Gene

HapMap Linkage Disequilibrium report
IMMP2L
Human Gene Mutation Database (HGMD)
IMMP2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMMP2L Gene

Disorders for IMMP2L Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for IMMP2L Gene including...

Search for IMMP2L Gene in MalaCards »

UniProtKB/Swiss-Prot

IMP2L_HUMAN
  • Gilles de la Tourette syndrome (GTS) [MIM:137580]: Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. {ECO:0000269 PubMed:11254443}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for IMMP2L Gene

Relevant External Links for IMMP2L

Genetic Association Database (GAD)
IMMP2L
Human Genome Epidemiology (HuGE) Navigator
IMMP2L
genes like me logo Genes that share disorders with IMMP2L: view

Publications for IMMP2L Gene

  1. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. (PMID: 11254443) Petek E. … Wagner K. (Am. J. Hum. Genet. 2001) 2 3 4
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. (PMID: 15814844) Burri L. … Lithgow T. (Mol. Biol. Cell 2005) 3 4
  5. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 48

Products for IMMP2L Gene

Sources for IMMP2L Gene

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