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Aliases for IMMP2L Gene

Aliases for IMMP2L Gene

  • Inner Mitochondrial Membrane Peptidase Subunit 2 2 3 5
  • IMP2 Inner Mitochondrial Membrane Peptidase-Like (S. Cerevisiae) 2
  • IMP2 Inner Mitochondrial Membrane Protease-Like (S. Cerevisiae) 2
  • IMMP2L Intronic Transcript 1 (Non-Protein Coding) 2
  • IMP2 Inner Mitochondrial Membrane Peptidase-Like 3
  • IMP2 Inner Mitochondrial Membrane Protease-Like 3
  • 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 61
  • IMP2 3

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 (Inner Mitochondrial Membrane Peptidase Subunit 2) is a Protein Coding gene. Diseases associated with IMMP2L include Deafness, Autosomal Dominant 2A and Tic Disorder. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMMP2L Gene

Genomics for IMMP2L Gene

Regulatory Elements for IMMP2L Gene

Enhancers for IMMP2L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G111498 1.1 Ensembl ENCODE 11.3 +63.3 63342 1.2 CBX3 SIN3A RAD21 CHAMP1 CBX5 RCOR1 RELB FOS ZHX2 USF2 IMMP2L PIR39878 GC07M111479
GH07G111486 0.9 ENCODE 10.9 +75.8 75772 0.2 HDAC1 ATF1 PKNOX1 ARNT ZNF2 RAD21 CHAMP1 ZNF143 SMARCA5 ZNF654 IMMP2L LRRN3 PIR39878 GC07M111479
GH07G111531 0.8 FANTOM5 11.8 +30.4 30414 0.3 ATF1 JUN CEBPG CHAMP1 FOSL1 CCNT2 GATA2 NFE2 TRIM24 MAFK IMMP2L GC07M111479 PIR39878
GH07G111438 1.2 Ensembl ENCODE 6.8 +123.7 123665 1.5 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 JUNB NCOA1 SMARCB1 IMMP2L PIR39878 GC07M111425
GH07G111474 1 ENCODE 8.1 +87.2 87168 2.1 PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 ELK1 GATA2 NCOA1 REST LRRN3 IMMP2L PIR39878 GC07M111479
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IMMP2L on UCSC Golden Path with GeneCards custom track

Promoters for IMMP2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216779 231 1401 HDGF CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 CBX5

Genomic Location for IMMP2L Gene

Chromosome:
7
Start:
110,662,645 bp from pter
End:
111,562,531 bp from pter
Size:
899,887 bases
Orientation:
Minus strand

Genomic View for IMMP2L Gene

Genes around IMMP2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMMP2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for IMMP2L Gene

Q96T52:
  • FGPVSLGL
  • VKVPRGH
  • EGDHHGHSFDSN
  • VTFLDRVAC
  • QKIIKRVI
  • HATHILWPP

Post-translational modifications for IMMP2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for IMMP2L Gene

Graphical View of Domain Structure for InterPro Entry

Q96T52

UniProtKB/Swiss-Prot:

IMP2L_HUMAN :
  • Belongs to the peptidase S26 family. IMP2 subfamily.
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 --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with IMMP2L: view
genes like me logo Genes that share phenotypes with IMMP2L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMMP2L gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for IMMP2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
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 & Interactions for IMMP2L Gene

SuperPathways for IMMP2L Gene

SuperPathway 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

Gene Ontology (GO) - Biological Process for IMMP2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006465 signal peptide processing IBA --
GO:0006508 proteolysis IEA --
GO:0006627 protein processing involved in protein targeting to mitochondrion ISS 15814844
GO:0006801 superoxide metabolic process IEA --
genes like me logo Genes that share ontologies with IMMP2L: view

No data available for SIGNOR curated interactions for IMMP2L Gene

Transcripts for IMMP2L Gene

Unigene Clusters for IMMP2L Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for IMMP2L Gene

Protein differential expression in normal tissues from HIPED for IMMP2L Gene

This gene is overexpressed in Pancreas (57.7) and Bone (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IMMP2L Gene



Protein tissue co-expression partners for IMMP2L Gene

NURSA nuclear receptor signaling pathways regulating expression of IMMP2L Gene:

IMMP2L

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.

Evidence on tissue expression from TISSUES for IMMP2L Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with IMMP2L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia IMMP2L 34 35
  • 93.52 (n)
cow
(Bos Taurus)
Mammalia IMMP2L 34 35
  • 92.95 (n)
rat
(Rattus norvegicus)
Mammalia Immp2l 34
  • 89.52 (n)
mouse
(Mus musculus)
Mammalia Immp2l 34 16 35
  • 89.14 (n)
oppossum
(Monodelphis domestica)
Mammalia IMMP2L 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves IMMP2L 34 35
  • 79.81 (n)
-- 35
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 77 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia immp2l 34
  • 71.54 (n)
zebrafish
(Danio rerio)
Actinopterygii immp2l 34 35
  • 68.05 (n)
Dr.23354 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007398 34
  • 58.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11110 36 34 35
  • 55.97 (n)
worm
(Caenorhabditis elegans)
Secernentea immp-2 34 35
  • 50.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMP2 34 35 37
  • 50.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27027g 34
  • 48.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR086W 34
  • 48.61 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08980 34
  • 47.38 (n)
rice
(Oryza sativa)
Liliopsida Os04g0165600 34
  • 45.32 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC336.13c 34
  • 48.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToOne
Species where no ortholog for IMMP2L was found in the sources mined by GeneCards:
  • 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

(1) 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
rs1000011898 -- 111,158,274(+) GGTAG(A/T)TATAG intron-variant
rs1000020802 -- 111,345,426(+) GTTTA(C/G)AGGAT intron-variant
rs1000021661 -- 111,444,531(+) GTCTA(A/G)CATTG intron-variant
rs1000021810 -- 110,894,022(+) CTCTC(C/T)TCCAC intron-variant
rs1000024307 -- 111,011,959(+) TATTA(C/T)TGGAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv11570n54 CNV gain 21841781
dgv11571n54 CNV loss 21841781
dgv11572n54 CNV loss 21841781
dgv11573n54 CNV loss 21841781
dgv11574n54 CNV loss 21841781
dgv11575n54 CNV loss 21841781
dgv11576n54 CNV loss 21841781
dgv11577n54 CNV loss 21841781
dgv11578n54 CNV loss 21841781
dgv11579n54 CNV loss 21841781
dgv11580n54 CNV loss 21841781
dgv11581n54 CNV loss 21841781
dgv11582n54 CNV loss 21841781
dgv1318e214 CNV loss 21293372
dgv1319e214 CNV loss 21293372
dgv1320e214 CNV loss 21293372
dgv1321e214 CNV loss 21293372
dgv235n6 CNV deletion 16902084
dgv29e196 CNV deletion 17116639
dgv3644n106 CNV deletion 24896259
dgv3645n106 CNV deletion 24896259
dgv427n21 CNV loss 19592680
dgv428n21 CNV loss 19592680
dgv6564n100 CNV loss 25217958
dgv6565n100 CNV loss 25217958
dgv6566n100 CNV loss 25217958
dgv6567n100 CNV loss 25217958
dgv6568n100 CNV loss 25217958
dgv6569n100 CNV loss 25217958
dgv6570n100 CNV loss 25217958
dgv6571n100 CNV loss 25217958
dgv6572n100 CNV loss 25217958
dgv6573n100 CNV loss 25217958
dgv6574n100 CNV loss 25217958
dgv6575n100 CNV loss 25217958
dgv6576n100 CNV loss 25217958
dgv6577n100 CNV loss 25217958
dgv6578n100 CNV loss 25217958
dgv6579n100 CNV loss 25217958
dgv6580n100 CNV gain 25217958
dgv6581n100 CNV loss 25217958
dgv6582n100 CNV loss 25217958
dgv6583n100 CNV loss 25217958
dgv6584n100 CNV loss 25217958
dgv6585n100 CNV loss 25217958
dgv6586n100 CNV loss 25217958
esv1003541 CNV insertion 20482838
esv1010951 CNV deletion 20482838
esv1139378 CNV deletion 17803354
esv1751628 CNV insertion 17803354
esv21685 CNV loss 19812545
esv21855 CNV loss 19812545
esv2385229 CNV deletion 18987734
esv2421473 CNV deletion 20811451
esv2422088 CNV deletion 20811451
esv2422098 CNV deletion 20811451
esv2599634 CNV deletion 19546169
esv2657607 CNV deletion 23128226
esv2658924 CNV deletion 23128226
esv2659216 CNV deletion 23128226
esv2659693 CNV deletion 23128226
esv2661413 CNV deletion 23128226
esv2661784 CNV deletion 23128226
esv2663569 CNV deletion 23128226
esv2664781 CNV deletion 23128226
esv2665872 CNV deletion 23128226
esv2667081 CNV deletion 23128226
esv2670857 CNV deletion 23128226
esv2671084 CNV deletion 23128226
esv2671616 CNV deletion 23128226
esv2672432 CNV deletion 23128226
esv2673039 CNV deletion 23128226
esv2673597 CNV deletion 23128226
esv2673881 CNV deletion 23128226
esv26741 CNV loss 19812545
esv2674667 CNV deletion 23128226
esv26791 CNV loss 19812545
esv2735023 CNV deletion 23290073
esv2735024 CNV deletion 23290073
esv2735025 CNV deletion 23290073
esv2735026 CNV deletion 23290073
esv2735030 CNV deletion 23290073
esv2735031 CNV deletion 23290073
esv2735032 CNV deletion 23290073
esv2752141 CNV loss 17911159
esv2752142 CNV loss 17911159
esv2759554 CNV loss 17122850
esv2759555 CNV loss 17122850
esv2761111 CNV loss 21179565
esv2761159 CNV loss 21179565
esv2762694 CNV loss 21179565
esv2762695 CNV loss 21179565
esv2762696 CNV loss 21179565
esv2764041 CNV gain+loss 21179565
esv3303756 CNV mobile element insertion 20981092
esv3303910 CNV mobile element insertion 20981092
esv3309484 CNV mobile element insertion 20981092
esv3324264 CNV insertion 20981092
esv3354493 CNV insertion 20981092
esv3377857 CNV insertion 20981092
esv3379500 CNV insertion 20981092
esv3389118 CNV insertion 20981092
esv3417036 CNV insertion 20981092
esv3431116 CNV insertion 20981092
esv3432287 CNV insertion 20981092
esv3440306 CNV duplication 20981092
esv34648 CNV loss 17911159
esv3542272 CNV deletion 23714750
esv3542273 CNV deletion 23714750
esv3542277 CNV deletion 23714750
esv3542279 CNV deletion 23714750
esv3542280 CNV deletion 23714750
esv3572058 CNV loss 25503493
esv3572059 CNV loss 25503493
esv3572060 CNV loss 25503493
esv3572061 CNV loss 25503493
esv3572062 CNV loss 25503493
esv3572063 CNV loss 25503493
esv3576414 CNV gain 25503493
esv3576415 CNV gain 25503493
esv3576417 CNV gain 25503493
esv3614527 CNV gain 21293372
esv3614528 CNV loss 21293372
esv3614530 CNV loss 21293372
esv3614531 CNV gain 21293372
esv3614532 CNV loss 21293372
esv3614533 CNV loss 21293372
esv3614534 CNV loss 21293372
esv3614535 CNV loss 21293372
esv3614536 CNV loss 21293372
esv3614537 CNV loss 21293372
esv3614538 CNV loss 21293372
esv3614539 CNV gain 21293372
esv3614540 CNV loss 21293372
esv3614544 CNV loss 21293372
esv3614545 CNV loss 21293372
esv3614546 CNV gain 21293372
esv3614547 CNV loss 21293372
esv3614548 CNV loss 21293372
esv3614549 CNV loss 21293372
esv3614551 CNV loss 21293372
esv3614552 CNV loss 21293372
esv3614553 CNV loss 21293372
esv3614554 CNV loss 21293372
esv3614555 CNV loss 21293372
esv3614559 CNV loss 21293372
esv3614560 CNV loss 21293372
esv3614561 CNV loss 21293372
esv3614562 CNV loss 21293372
esv3614563 CNV loss 21293372
esv3614564 CNV loss 21293372
esv3614565 CNV loss 21293372
esv3614566 CNV loss 21293372
esv3614567 CNV loss 21293372
esv3614568 CNV loss 21293372
esv3614569 CNV loss 21293372
esv3614571 CNV loss 21293372
esv3614572 CNV loss 21293372
esv3614573 CNV loss 21293372
esv3614575 CNV loss 21293372
esv3614576 CNV gain 21293372
esv3614577 CNV loss 21293372
esv3614578 CNV loss 21293372
esv3614580 CNV loss 21293372
esv3614583 CNV loss 21293372
esv3614584 CNV loss 21293372
esv3614585 CNV gain 21293372
esv3614586 CNV loss 21293372
esv3614590 CNV gain 21293372
esv3614592 CNV loss 21293372
esv3614593 CNV loss 21293372
esv3614594 CNV loss 21293372
esv3614596 CNV loss 21293372
esv3614597 CNV loss 21293372
esv3891179 CNV gain 25118596
esv3891180 CNV loss 25118596
esv3891182 CNV loss 25118596
esv3891183 CNV loss 25118596
esv3891184 CNV loss 25118596
esv3891185 CNV loss 25118596
esv3891186 CNV loss 25118596
esv3891187 CNV loss 25118596
esv3906 CNV loss 18987735
esv5171 CNV loss 18987735
esv6655 CNV gain 19470904
esv7797 CNV gain 19470904
esv8850 CNV loss 19470904
esv9669 CNV gain 19470904
esv989131 CNV deletion 20482838
nsv1015692 CNV loss 25217958
nsv1016827 CNV gain 25217958
nsv1017305 CNV gain 25217958
nsv1017427 CNV loss 25217958
nsv1018063 CNV loss 25217958
nsv1018869 CNV loss 25217958
nsv1019904 CNV loss 25217958
nsv1019911 CNV loss 25217958
nsv1022913 CNV loss 25217958
nsv1024477 CNV loss 25217958
nsv1024983 CNV loss 25217958
nsv1026548 CNV loss 25217958
nsv1028359 CNV gain 25217958
nsv1029168 CNV gain 25217958
nsv1029600 CNV loss 25217958
nsv1029886 CNV loss 25217958
nsv1032049 CNV loss 25217958
nsv1032449 CNV loss 25217958
nsv1032484 CNV loss 25217958
nsv1032661 CNV loss 25217958
nsv1033643 CNV loss 25217958
nsv1033647 CNV gain 25217958
nsv1034029 CNV loss 25217958
nsv1075052 CNV deletion 25765185
nsv1076940 CNV deletion 25765185
nsv11 CNV insertion 15895083
nsv1124257 CNV deletion 24896259
nsv1147940 CNV deletion 26484159
nsv1151054 CNV deletion 26484159
nsv1151303 CNV duplication 26484159
nsv1161600 CNV deletion 26073780
nsv1161601 OTHER complex 26073780
nsv365322 CNV insertion 16902084
nsv366312 CNV deletion 16902084
nsv428183 CNV loss 18775914
nsv437027 CNV loss 16327808
nsv437566 CNV loss 16327808
nsv437567 CNV loss 16327808
nsv437998 CNV loss 16468122
nsv442061 CNV loss 18776908
nsv442062 CNV loss 18776908
nsv442105 CNV loss 18776908
nsv464671 CNV gain 19166990
nsv464673 CNV gain 19166990
nsv464674 CNV loss 19166990
nsv464675 CNV loss 19166990
nsv464676 CNV loss 19166990
nsv464677 CNV loss 19166990
nsv464678 CNV loss 19166990
nsv464679 CNV gain 19166990
nsv464680 CNV loss 19166990
nsv464684 CNV loss 19166990
nsv464685 CNV loss 19166990
nsv464686 CNV loss 19166990
nsv470384 CNV loss 18288195
nsv470385 CNV loss 18288195
nsv475701 CNV novel sequence insertion 20440878
nsv475901 CNV novel sequence insertion 20440878
nsv476818 CNV novel sequence insertion 20440878
nsv478799 CNV novel sequence insertion 20440878
nsv514439 CNV gain 21397061
nsv514440 CNV loss 21397061
nsv514441 CNV loss 21397061
nsv515693 CNV gain 19592680
nsv519432 CNV loss 19592680
nsv526883 CNV gain 19592680
nsv5898 CNV insertion 18451855
nsv608080 CNV gain 21841781
nsv608147 CNV loss 21841781
nsv608150 CNV gain 21841781
nsv608151 CNV loss 21841781
nsv608154 CNV loss 21841781
nsv608155 CNV loss 21841781
nsv608156 CNV loss 21841781
nsv608157 CNV loss 21841781
nsv608160 CNV loss 21841781
nsv608163 CNV loss 21841781
nsv608164 CNV loss 21841781
nsv608171 CNV loss 21841781
nsv608180 CNV loss 21841781
nsv608181 CNV loss 21841781
nsv608184 CNV gain 21841781
nsv608188 CNV gain 21841781
nsv608196 CNV loss 21841781
nsv608199 CNV loss 21841781
nsv608200 CNV gain 21841781
nsv608206 CNV loss 21841781
nsv608208 CNV loss 21841781
nsv608209 CNV loss 21841781
nsv608211 CNV loss 21841781
nsv608215 CNV loss 21841781
nsv818545 CNV loss 17921354
nsv818546 CNV loss 17921354
nsv818547 CNV loss 17921354
nsv8201 CNV loss 18304495
nsv8203 CNV loss 18304495
nsv8204 CNV gain+loss 18304495
nsv824267 CNV loss 20364138
nsv824268 CNV loss 20364138
nsv824269 CNV loss 20364138
nsv955977 CNV deletion 24416366
nsv958411 CNV deletion 24416366
nsv966875 CNV duplication 23825009
nsv967482 CNV deletion 23825009

Variation tolerance for IMMP2L Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IMMP2L Gene

Human Gene Mutation Database (HGMD)
IMMP2L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMMP2L

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

Disorders for IMMP2L Gene

MalaCards: The human disease database

(5) MalaCards diseases for IMMP2L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 2a
  • autosomal dominant nonsyndromic deafness 2a
tic disorder
gilles de la tourette syndrome
  • tourette syndrome
autism spectrum disorder
  • pervasive development disorder
attention deficit-hyperactivity disorder
  • attention deficit hyperactivity disorder
- elite association - COSMIC cancer census association via 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.

Relevant External Links for IMMP2L

Genetic Association Database (GAD)
IMMP2L
Human Genome Epidemiology (HuGE) Navigator
IMMP2L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IMMP2L
genes like me logo Genes that share disorders with IMMP2L: view

No data available for Genatlas for IMMP2L Gene

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 64
  2. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E. … Estivill X. (J Psychiatr Res 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for IMMP2L Gene

Sources for IMMP2L Gene

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