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Aliases for PTPRN2 Gene

Aliases for PTPRN2 Gene

  • Protein Tyrosine Phosphatase, Receptor Type N2 2 3 5
  • Protein Tyrosine Phosphatase, Receptor Type, N Polypeptide 2 2 3
  • Islet Cell Autoantigen-Related Protein 3 4
  • EC 3.1.3.48 4 61
  • R-PTP-N2 3 4
  • Phogrin 3 4
  • ICAAR 3 4
  • IAR 3 4
  • IAR/Receptor-Like Protein-Tyrosine Phosphatase 3
  • Receptor-Type Tyrosine-Protein Phosphatase N2 3
  • Protein Tyrosine Phosphatase Receptor Pi 3
  • Tyrosine Phosphatase IA-2 Beta 3
  • EC 3.1.3.- 4
  • IAR PTPRP 2
  • IA-2beta 3
  • KIAA0387 4
  • PTPRP 3

External Ids for PTPRN2 Gene

Previous GeneCards Identifiers for PTPRN2 Gene

  • GC07M155562
  • GC07M156175
  • GC07M156634
  • GC07M156748
  • GC07M156831
  • GC07M157024
  • GC07M157331
  • GC07M151062

Summaries for PTPRN2 Gene

Entrez Gene Summary for PTPRN2 Gene

  • This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GeneCards Summary for PTPRN2 Gene

PTPRN2 (Protein Tyrosine Phosphatase, Receptor Type N2) is a Protein Coding gene. Diseases associated with PTPRN2 include Insulinoma and Multiple Cranial Nerve Palsy. Among its related pathways are Innate Immune System and Allograft rejection. GO annotations related to this gene include phosphatase activity and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPRN.

UniProtKB/Swiss-Prot for PTPRN2 Gene

  • Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity). Has phosphatidylinositol phosphatase activity; the PIPase activity is involved in its ability to regulate insulin secretion. Can dephosphorylate phosphatidylinositol 4,5-biphosphate (PI(4,5)P2), phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate (By similarity). Regulates PI(4,5)P2 level in the plasma membrane and localization of cofilin at the plasma membrane and thus is indirectly involved in regulation of actin dynamics related to cell migration and metastasis; upon hydrolyzation of PI(4,5)P2 cofilin is released from the plasma membrane and acts in the cytoplasm in severing F-actin filaments (PubMed:26620550).

Gene Wiki entry for PTPRN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPRN2 Gene

Genomics for PTPRN2 Gene

Regulatory Elements for PTPRN2 Gene

Enhancers for PTPRN2 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
GH07G158472 1.2 Ensembl ENCODE dbSUPER 11.4 +114.6 114586 2.3 SCRT1 PKNOX1 RFX1 MXI1 MAZ ZNF687 MXD4 DMAP1 KLF4 ZEB1 MIR595 ENSG00000225365 PTPRN2 ENSG00000272839 GC07P158470 PIR47665
GH07G158585 1.3 FANTOM5 ENCODE dbSUPER 9.5 +1.5 1549 1.1 ELF3 CTCF DRAP1 TFAP4 MXI1 ESRRA SAP130 ARID4B RAD21 ZNF644 PTPRN2 PIR53228
GH07G158498 0.9 ENCODE 11.8 +88.8 88809 0.7 ELF3 FOXA2 MLX ARID4B DMAP1 RARA CREM MIXL1 THAP11 MXD4 MIR595 ENSG00000225365 PTPRN2 LINC01022 PIR47665 GC07P158470
GH07G158396 1 ENCODE dbSUPER 10.5 +191.2 191164 1.6 ELF3 CTCF ATF1 FOXA2 MAX CEBPG PAX8 RAD21 ZBTB40 CREM PTPRN2 LINC01022 GC07M158378 GC07P158470
GH07G158616 0.9 ENCODE 11.6 -30.3 -30260 2.2 HDGF PKNOX1 CBX3 ATF1 NFRKB ZNF766 CREM SMARCA5 CAVIN1 ZBTB11 LINC01022 PTPRN2 ESYT2 THAP5P1 GC07M158623 MIR5707
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPRN2 on UCSC Golden Path with GeneCards custom track

Promoters for PTPRN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000220294 -4 801 ELF3 MXI1 RB1 SAP130 SUZ12 SIN3A UBTF ZNF766 POLR2A CBX5

Genomic Location for PTPRN2 Gene

Chromosome:
7
Start:
157,539,056 bp from pter
End:
158,587,796 bp from pter
Size:
1,048,741 bases
Orientation:
Minus strand

Genomic View for PTPRN2 Gene

Genes around PTPRN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPRN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPRN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPRN2 Gene

Proteins for PTPRN2 Gene

  • Protein details for PTPRN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92932-PTPR2_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase N2
    Protein Accession:
    Q92932
    Secondary Accessions:
    • E9PC57
    • Q8N4I5
    • Q92662
    • Q9Y4F8
    • Q9Y4I6

    Protein attributes for PTPRN2 Gene

    Size:
    1015 amino acids
    Molecular mass:
    111271 Da
    Quaternary structure:
    • Self-associates. Interacts (via cytoplasmic domain) with PTPRN (via cytoplasmic domain). Interacts (precursor form) with CPE. Interacts with HAP1. Interacts with AP2A1 or AP2A2 and AP1G1; indicative for an association with adaptor protein complex 2 (AP-2) and adaptor protein complex 1 (AP-1) (By similarity). Interacts with AP2M1; indicative for an association with adaptor protein complex 2 (AP-2). Interacts with MYO5A (By similarity).
    SequenceCaution:
    • Sequence=BAA20841.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTPRN2 Gene

    Alternative splice isoforms for PTPRN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRN2 Gene

Selected DME Specific Peptides for PTPRN2 Gene

Q92932:
  • ETRTVTQFHFLSW
  • YIATQGP
  • PIIVHCS

Post-translational modifications for PTPRN2 Gene

  • Subject to proteolytic cleavage at multiple sites.
  • Glycosylation at isoforms=2, 3, 4230, isoforms=2, 3, 4398, and isoforms=2, 3, 4564
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PTPRN2
  • Cloud-Clone Corp. Antibodies for PTPRN2

Domains & Families for PTPRN2 Gene

Gene Families for PTPRN2 Gene

Suggested Antigen Peptide Sequences for PTPRN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92932

UniProtKB/Swiss-Prot:

PTPR2_HUMAN :
  • The cytoplasmic domain appears to contain the autoantigenic epitopes.
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.
Domain:
  • The cytoplasmic domain appears to contain the autoantigenic epitopes.
  • The leucine-based sorting signal is proposed to function in trafficking at the plasma membrane.
  • The tyrosine-based internalization signal is proposed to function at the level of clathrin-mediated endocytosis and recycling.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily.
genes like me logo Genes that share domains with PTPRN2: view

Function for PTPRN2 Gene

Molecular function for PTPRN2 Gene

GENATLAS Biochemistry:
phogrin,protein tyrosine phosphatase,receptor-type,N,polypeptide 2,homolog of mouse IA2B/ICAR gene,encoding an autoantigen in insulin-dependent diabetes
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.5. {ECO:0000269 PubMed:8798755};
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity). Has phosphatidylinositol phosphatase activity; the PIPase activity is involved in its ability to regulate insulin secretion. Can dephosphorylate phosphatidylinositol 4,5-biphosphate (PI(4,5)P2), phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate (By similarity). Regulates PI(4,5)P2 level in the plasma membrane and localization of cofilin at the plasma membrane and thus is indirectly involved in regulation of actin dynamics related to cell migration and metastasis; upon hydrolyzation of PI(4,5)P2 cofilin is released from the plasma membrane and acts in the cytoplasm in severing F-actin filaments (PubMed:26620550).

Enzyme Numbers (IUBMB) for PTPRN2 Gene

Gene Ontology (GO) - Molecular Function for PTPRN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS 8798755
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with PTPRN2: view
genes like me logo Genes that share phenotypes with PTPRN2: view

Animal Models for PTPRN2 Gene

MGI Knock Outs for PTPRN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPRN2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPRN2 Gene

Localization for PTPRN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRN2 Gene

Cytoplasmic vesicle, secretory vesicle membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type I membrane protein. Note=Predominantly found on dense-core secretory granules. Sorting to secretory granules in part is dependent of the N-terminal propeptide domain of the precursor and its interaction with CPE (By similarity). Transiently found at the cell membrane, when secretory vesicles fuse with the cell membrane to release their cargo. Is then endocytosed and recycled to secretory vesicles involving clathrin-dependent AP2-mediated endocytosis. Recycled via STX6- but not TTTGN1/TGN38-containing compartments (By similarity). {ECO:0000250 UniProtKB:P80560, ECO:0000250 UniProtKB:Q63475}.
IA-2beta60: Cytoplasmic vesicle, secretory vesicle membrane.

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 PTPRN2 gene
Compartment Confidence
plasma membrane 5
extracellular 3
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PTPRN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8798755
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PTPRN2: view

Pathways & Interactions for PTPRN2 Gene

genes like me logo Genes that share pathways with PTPRN2: view

Pathways by source for PTPRN2 Gene

3 Reactome pathways for PTPRN2 Gene
1 KEGG pathway for PTPRN2 Gene
1 Qiagen pathway for PTPRN2 Gene

Gene Ontology (GO) - Biological Process for PTPRN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 8798755
GO:0006629 lipid metabolic process IEA --
GO:0007269 neurotransmitter secretion ISS,IEA --
GO:0016311 dephosphorylation IEA --
GO:0034260 negative regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with PTPRN2: view

No data available for SIGNOR curated interactions for PTPRN2 Gene

Drugs & Compounds for PTPRN2 Gene

(6) Drugs for PTPRN2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for PTPRN2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PTPRN2: view

Transcripts for PTPRN2 Gene

mRNA/cDNA for PTPRN2 Gene

(11) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTPRN2 Gene

Protein tyrosine phosphatase, receptor type, N polypeptide 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPRN2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6:
SP7:
SP8: -
SP9: - -
SP10:
SP11:
SP12: -
SP13:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b · 31c · 31d · 31e
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PTPRN2 Gene

GeneLoc Exon Structure for
PTPRN2
ECgene alternative splicing isoforms for
PTPRN2

Expression for PTPRN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPRN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPRN2 Gene

This gene is overexpressed in Brain - Cortex (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.6), Brain - Frontal Cortex (BA9) (x4.3), Brain - Nucleus accumbens (basal ganglia) (x4.2), and Brain - Putamen (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for PTPRN2 Gene

This gene is overexpressed in Cerebrospinal fluid (50.4) and Frontal cortex (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTPRN2 Gene



Protein tissue co-expression partners for PTPRN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPRN2 Gene:

PTPRN2

SOURCE GeneReport for Unigene cluster for PTPRN2 Gene:

Hs.490789

mRNA Expression by UniProt/SwissProt for PTPRN2 Gene:

Q92932-PTPR2_HUMAN
Tissue specificity: Highest levels in brain and pancreas (PubMed:8954911, PubMed:8798755). Lower levels in trachea, prostate, stomach and spinal chord (PubMed:8798755).

Evidence on tissue expression from TISSUES for PTPRN2 Gene

  • Nervous system(5)
  • Pancreas(4.7)
genes like me logo Genes that share expression patterns with PTPRN2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRN2 Gene

Orthologs for PTPRN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRN2 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia PTPRN2 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPRN2 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTPRN2 34 35
  • 76.27 (n)
rat
(Rattus norvegicus)
Mammalia Ptprn2 34
  • 75.94 (n)
mouse
(Mus musculus)
Mammalia Ptprn2 34 16 35
  • 75.8 (n)
dog
(Canis familiaris)
Mammalia PTPRN2 34 35
  • 75.41 (n)
chicken
(Gallus gallus)
Aves PTPRN2 34 35
  • 62.58 (n)
lizard
(Anolis carolinensis)
Reptilia PTPRN2 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptprn2 34
  • 61.19 (n)
zebrafish
(Danio rerio)
Actinopterygii ptprn2 34 35
  • 45.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta ia2 36
  • 63 (a)
IA-2 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ida-1 36 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for PTPRN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTPRN2 Gene

ENSEMBL:
Gene Tree for PTPRN2 (if available)
TreeFam:
Gene Tree for PTPRN2 (if available)

Paralogs for PTPRN2 Gene

Paralogs for PTPRN2 Gene

(13) SIMAP similar genes for PTPRN2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PTPRN2 Gene

genes like me logo Genes that share paralogs with PTPRN2: view

Variants for PTPRN2 Gene

Sequence variations from dbSNP and Humsavar for PTPRN2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs577236042 A colorectal cancer sample 157,656,407(+) CTCCT(C/T)GGACC reference, missense
rs193920806 Uncertain significance 157,621,367(-) CGTGC(C/T)GACCT reference, missense
rs1000000657 -- 158,215,167(+) ATAGA(C/T)GATGT intron-variant
rs1000001895 -- 158,343,278(+) ACAAA(C/T)AGCTG intron-variant
rs1000003871 -- 157,807,118(+) GGGCC(C/T)TTCCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTPRN2 Gene

Variant ID Type Subtype PubMed ID
dgv1146e201 CNV deletion 23290073
dgv1147e201 CNV deletion 23290073
dgv1148e201 CNV deletion 23290073
dgv1149e201 CNV deletion 23290073
dgv1150e201 CNV deletion 23290073
dgv1151e201 CNV deletion 23290073
dgv1151n67 CNV gain 20364138
dgv1152e201 CNV deletion 23290073
dgv1152n67 CNV gain 20364138
dgv1153e201 CNV deletion 23290073
dgv1154e201 CNV deletion 23290073
dgv1155e201 CNV deletion 23290073
dgv1156e201 CNV deletion 23290073
dgv1157e201 CNV deletion 23290073
dgv1158e201 CNV deletion 23290073
dgv1159e201 CNV deletion 23290073
dgv1160e201 CNV deletion 23290073
dgv1161e201 CNV deletion 23290073
dgv1162e201 CNV deletion 23290073
dgv1163e201 CNV deletion 23290073
dgv1164e201 CNV deletion 23290073
dgv1165e201 CNV deletion 23290073
dgv1166e201 CNV deletion 23290073
dgv1167e201 CNV deletion 23290073
dgv11761n54 CNV loss 21841781
dgv11762n54 CNV loss 21841781
dgv11763n54 CNV loss 21841781
dgv11764n54 CNV gain+loss 21841781
dgv11765n54 CNV gain 21841781
dgv11766n54 CNV loss 21841781
dgv11767n54 CNV loss 21841781
dgv11768n54 CNV gain 21841781
dgv11769n54 CNV loss 21841781
dgv11770n54 CNV gain 21841781
dgv11771n54 CNV loss 21841781
dgv11772n54 CNV loss 21841781
dgv11773n54 CNV gain+loss 21841781
dgv11774n54 CNV loss 21841781
dgv11775n54 CNV gain 21841781
dgv11776n54 CNV loss 21841781
dgv11777n54 CNV loss 21841781
dgv11778n54 CNV loss 21841781
dgv11779n54 CNV loss 21841781
dgv11780n54 CNV loss 21841781
dgv11781n54 CNV gain 21841781
dgv11782n54 CNV gain 21841781
dgv11783n54 CNV loss 21841781
dgv11784n54 CNV loss 21841781
dgv11785n54 CNV loss 21841781
dgv11786n54 CNV loss 21841781
dgv11787n54 CNV loss 21841781
dgv11788n54 CNV gain+loss 21841781
dgv11789n54 CNV loss 21841781
dgv11790n54 CNV loss 21841781
dgv11791n54 CNV gain+loss 21841781
dgv11792n54 CNV gain+loss 21841781
dgv11793n54 CNV loss 21841781
dgv1255e199 CNV deletion 23128226
dgv1256e199 CNV deletion 23128226
dgv138e19 CNV gain 19470904
dgv2013e212 CNV gain 25503493
dgv3722n106 CNV duplication 24896259
dgv3723n106 CNV deletion 24896259
dgv3724n106 CNV deletion 24896259
dgv3725n106 CNV deletion 24896259
dgv3726n106 CNV deletion 24896259
dgv3727n106 CNV deletion 24896259
dgv4011e59 CNV duplication 20981092
dgv4014e59 CNV duplication 20981092
dgv4018e59 CNV duplication 20981092
dgv4019e59 CNV duplication 20981092
dgv4020e59 CNV duplication 20981092
dgv4021e59 CNV duplication 20981092
dgv4022e59 CNV duplication 20981092
dgv4023e59 CNV duplication 20981092
dgv4024e59 CNV duplication 20981092
dgv4025e59 CNV duplication 20981092
dgv4026e59 CNV duplication 20981092
dgv4027e59 CNV duplication 20981092
dgv4028e59 CNV duplication 20981092
dgv457e215 CNV deletion 23714750
dgv64e213 CNV gain 24956385
dgv6769n100 CNV gain 25217958
dgv6770n100 CNV gain 25217958
dgv849n27 CNV gain 19166990
esv1000700 CNV insertion 20482838
esv1001058 CNV insertion 20482838
esv1001208 CNV deletion 20482838
esv1002942 CNV deletion 20482838
esv1003874 CNV deletion 20482838
esv1005454 CNV deletion 20482838
esv1006616 CNV insertion 20482838
esv1007316 CNV loss 20482838
esv1008117 CNV gain 20482838
esv1032734 CNV deletion 17803354
esv1064724 CNV deletion 17803354
esv1071067 CNV deletion 17803354
esv1071922 CNV deletion 17803354
esv1073346 CNV insertion 17803354
esv1094778 CNV insertion 17803354
esv1095072 CNV deletion 17803354
esv1099856 CNV insertion 17803354
esv1129897 CNV insertion 17803354
esv1134346 CNV deletion 17803354
esv1140766 CNV insertion 17803354
esv1148504 CNV insertion 17803354
esv1154072 CNV deletion 17803354
esv1159588 CNV insertion 17803354
esv1165452 CNV insertion 17803354
esv1175009 CNV deletion 17803354
esv1185910 CNV insertion 17803354
esv1186905 CNV insertion 17803354
esv1189905 CNV insertion 17803354
esv1207597 CNV insertion 17803354
esv1212288 CNV insertion 17803354
esv1220750 CNV deletion 17803354
esv1244297 CNV deletion 17803354
esv1253259 CNV insertion 17803354
esv1259869 CNV deletion 17803354
esv1281811 CNV deletion 17803354
esv1286519 CNV deletion 17803354
esv1313788 CNV deletion 17803354
esv1341538 CNV deletion 17803354
esv1351690 CNV deletion 17803354
esv1376066 CNV deletion 17803354
esv1380040 CNV insertion 17803354
esv1387349 CNV insertion 17803354
esv1390782 CNV insertion 17803354
esv1401307 CNV insertion 17803354
esv1403668 CNV insertion 17803354
esv1420305 CNV deletion 17803354
esv1434953 CNV deletion 17803354
esv1435366 CNV deletion 17803354
esv1438946 CNV insertion 17803354
esv1450913 CNV deletion 17803354
esv1455252 CNV deletion 17803354
esv1458869 CNV insertion 17803354
esv1469445 CNV deletion 17803354
esv1478003 CNV insertion 17803354
esv1482011 CNV insertion 17803354
esv1482349 CNV deletion 17803354
esv1493660 CNV deletion 17803354
esv1501716 CNV insertion 17803354
esv1512306 CNV deletion 17803354
esv1524117 CNV insertion 17803354
esv1526404 CNV deletion 17803354
esv1537965 CNV insertion 17803354
esv1538186 CNV insertion 17803354
esv1539719 CNV insertion 17803354
esv1544675 CNV insertion 17803354
esv1550816 CNV insertion 17803354
esv1552639 CNV deletion 17803354
esv1557291 CNV insertion 17803354
esv1558426 CNV insertion 17803354
esv1566857 CNV deletion 17803354
esv1585173 CNV insertion 17803354
esv1587341 CNV insertion 17803354
esv1591253 CNV deletion 17803354
esv1600304 CNV insertion 17803354
esv1609406 CNV deletion 17803354
esv1617552 CNV insertion 17803354
esv1617560 CNV insertion 17803354
esv1621516 CNV deletion 17803354
esv1627187 CNV deletion 17803354
esv1643403 CNV deletion 17803354
esv1652062 CNV insertion 17803354
esv1663585 CNV insertion 17803354
esv1668845 CNV insertion 17803354
esv1680668 CNV insertion 17803354
esv1682665 CNV deletion 17803354
esv1692507 CNV insertion 17803354
esv1742476 CNV insertion 17803354
esv1762513 CNV deletion 17803354
esv1767698 CNV insertion 17803354
esv1777704 CNV deletion 17803354
esv1782223 CNV insertion 17803354
esv1787465 CNV deletion 17803354
esv1917131 CNV deletion 18987734
esv1951434 CNV deletion 18987734
esv1951528 CNV deletion 18987734
esv1973415 CNV deletion 18987734
esv2020339 CNV deletion 18987734
esv2032123 CNV deletion 18987734
esv2093583 CNV deletion 18987734
esv2119297 CNV deletion 18987734
esv2129126 CNV deletion 18987734
esv2160851 CNV deletion 18987734
esv2164228 CNV deletion 18987734
esv2182751 CNV deletion 18987734
esv2188727 CNV deletion 18987734
esv2193160 CNV deletion 18987734
esv21952 CNV gain+loss 19812545
esv21963 CNV loss 19812545
esv2202859 CNV deletion 18987734
esv2225406 CNV deletion 18987734
esv2225893 CNV deletion 18987734
esv22520 CNV gain 19812545
esv22807 CNV loss 19812545
esv23204 CNV gain+loss 19812545
esv2325675 CNV deletion 18987734
esv23376 CNV gain 19812545
esv23469 CNV gain+loss 19812545
esv2370566 CNV deletion 18987734
esv2374779 CNV deletion 18987734
esv23833 CNV loss 19812545
esv2422331 CNV duplication 17116639
esv2429042 CNV deletion 19546169
esv2430415 CNV deletion 19546169
esv2436240 CNV deletion 19546169
esv24570 CNV loss 19812545
esv2472439 CNV deletion 19546169
esv2473924 CNV deletion 19546169
esv25118 CNV loss 19812545
esv25476 CNV loss 19812545
esv25551 CNV gain 19812545
esv2569223 CNV deletion 19546169
esv2570529 CNV insertion 19546169
esv2594488 CNV deletion 19546169
esv2597859 CNV insertion 19546169
esv2602791 CNV loss 19546169
esv2608856 CNV insertion 19546169
esv26337 CNV gain+loss 19812545
esv2634564 CNV insertion 19546169
esv26378 CNV gain+loss 19812545
esv2648813 CNV deletion 19546169
esv26534 CNV gain+loss 19812545
esv2656695 CNV deletion 23128226
esv2657371 CNV deletion 23128226
esv2657567 CNV deletion 23128226
esv2657574 CNV deletion 23128226
esv2657822 CNV deletion 23128226
esv2658800 CNV deletion 23128226
esv2658937 CNV deletion 23128226
esv26603 CNV loss 19812545
esv26619 CNV gain 19812545
esv2662026 CNV deletion 23128226
esv2662419 CNV deletion 23128226
esv2663824 CNV deletion 23128226
esv2663923 CNV deletion 23128226
esv2665883 CNV deletion 23128226
esv2665903 CNV deletion 23128226
esv2667381 CNV deletion 23128226
esv2667714 CNV deletion 23128226
esv2668650 CNV deletion 23128226
esv26693 CNV gain 19812545
esv2669347 CNV deletion 23128226
esv2669610 CNV deletion 23128226
esv2670399 CNV deletion 23128226
esv2672761 CNV deletion 23128226
esv2674169 CNV deletion 23128226
esv2674334 CNV deletion 23128226
esv2675545 CNV deletion 23128226
esv2675563 CNV deletion 23128226
esv2675632 CNV deletion 23128226
esv2675691 CNV deletion 23128226
esv2675958 CNV deletion 23128226
esv2676129 CNV deletion 23128226
esv26772 CNV loss 19812545
esv2677537 CNV deletion 23128226
esv2678153 CNV deletion 23128226
esv2678502 CNV deletion 23128226
esv2735700 CNV deletion 23290073
esv2735701 CNV deletion 23290073
esv2735702 CNV deletion 23290073
esv2735703 CNV deletion 23290073
esv2735704 CNV deletion 23290073
esv2735705 CNV deletion 23290073
esv2735707 CNV deletion 23290073
esv2735708 CNV deletion 23290073
esv2735709 CNV deletion 23290073
esv2735710 CNV deletion 23290073
esv2735711 CNV deletion 23290073
esv2735712 CNV deletion 23290073
esv2735713 CNV deletion 23290073
esv2735714 CNV deletion 23290073
esv2735721 CNV deletion 23290073
esv2735722 CNV deletion 23290073
esv2735723 CNV deletion 23290073
esv2735724 CNV deletion 23290073
esv2735733 CNV deletion 23290073
esv2735734 CNV deletion 23290073
esv2735735 CNV deletion 23290073
esv2735738 CNV deletion 23290073
esv2735740 CNV deletion 23290073
esv2735741 CNV deletion 23290073
esv2735742 CNV deletion 23290073
esv2735743 CNV deletion 23290073
esv2735744 CNV deletion 23290073
esv2735745 CNV deletion 23290073
esv2735746 CNV deletion 23290073
esv2735747 CNV deletion 23290073
esv2735748 CNV deletion 23290073
esv2735749 CNV deletion 23290073
esv2735751 CNV deletion 23290073
esv2735752 CNV deletion 23290073
esv2735753 CNV deletion 23290073
esv2735754 CNV deletion 23290073
esv2735755 CNV deletion 23290073
esv2735756 CNV deletion 23290073
esv2735757 CNV deletion 23290073
esv2735758 CNV deletion 23290073
esv2735759 CNV deletion 23290073
esv2735760 CNV deletion 23290073
esv2735762 CNV deletion 23290073
esv2735763 CNV deletion 23290073
esv2735764 CNV deletion 23290073
esv2735765 CNV deletion 23290073
esv2735766 CNV deletion 23290073
esv2735767 CNV deletion 23290073
esv2735768 CNV deletion 23290073
esv2735769 CNV deletion 23290073
esv2735770 CNV deletion 23290073
esv2735771 CNV deletion 23290073
esv2735775 CNV deletion 23290073
esv2735780 CNV deletion 23290073
esv2735781 CNV deletion 23290073
esv2735782 CNV deletion 23290073
esv2735784 CNV deletion 23290073
esv2735785 CNV deletion 23290073
esv2735786 CNV deletion 23290073
esv2735787 CNV deletion 23290073
esv2735788 CNV deletion 23290073
esv2735789 CNV deletion 23290073
esv2735790 CNV deletion 23290073
esv2735791 CNV deletion 23290073
esv2735802 CNV deletion 23290073
esv2735803 CNV deletion 23290073
esv2735804 CNV deletion 23290073
esv2735807 CNV deletion 23290073
esv2735808 CNV deletion 23290073
esv2735809 CNV deletion 23290073
esv2735810 CNV deletion 23290073
esv2735811 CNV deletion 23290073
esv2735812 CNV deletion 23290073
esv2735813 CNV deletion 23290073
esv2735814 CNV deletion 23290073
esv2735815 CNV deletion 23290073
esv2735816 CNV deletion 23290073
esv2735819 CNV deletion 23290073
esv2735821 CNV deletion 23290073
esv2735822 CNV deletion 23290073
esv2735823 CNV deletion 23290073
esv2735824 CNV deletion 23290073
esv2735825 CNV deletion 23290073
esv2735826 CNV deletion 23290073
esv2735827 CNV deletion 23290073
esv2735829 CNV deletion 23290073
esv2735834 CNV deletion 23290073
esv2735835 CNV deletion 23290073
esv2735837 CNV deletion 23290073
esv2735838 CNV deletion 23290073
esv2735840 CNV deletion 23290073
esv2735841 CNV deletion 23290073
esv2735842 CNV deletion 23290073
esv2735843 CNV deletion 23290073
esv2735844 CNV deletion 23290073
esv2735845 CNV deletion 23290073
esv2735846 CNV deletion 23290073
esv2735847 CNV deletion 23290073
esv2735848 CNV deletion 23290073
esv2735849 CNV deletion 23290073
esv2735851 CNV deletion 23290073
esv2735852 CNV deletion 23290073
esv2735853 CNV deletion 23290073
esv2735854 CNV deletion 23290073
esv2735855 CNV deletion 23290073
esv2735856 CNV deletion 23290073
esv2735857 CNV deletion 23290073
esv2735858 CNV deletion 23290073
esv2735859 CNV deletion 23290073
esv2735860 CNV deletion 23290073
esv2735862 CNV deletion 23290073
esv2735863 CNV deletion 23290073
esv2735864 CNV deletion 23290073
esv2735865 CNV deletion 23290073
esv2735866 CNV deletion 23290073
esv2735867 CNV deletion 23290073
esv2735868 CNV deletion 23290073
esv2735869 CNV deletion 23290073
esv2735870 CNV deletion 23290073
esv2735871 CNV deletion 23290073
esv2735873 CNV deletion 23290073
esv2735874 CNV deletion 23290073
esv2735875 CNV deletion 23290073
esv2735876 CNV deletion 23290073
esv2735877 CNV deletion 23290073
esv2735878 CNV deletion 23290073
esv2735879 CNV deletion 23290073
esv2735880 CNV deletion 23290073
esv2735881 CNV deletion 23290073
esv2735882 CNV deletion 23290073
esv2735884 CNV deletion 23290073
esv2735885 CNV deletion 23290073
esv2735886 CNV deletion 23290073
esv2735887 CNV deletion 23290073
esv2735888 CNV deletion 23290073
esv2735889 CNV deletion 23290073
esv2735890 CNV deletion 23290073
esv2735891 CNV deletion 23290073
esv2735892 CNV deletion 23290073
esv2735893 CNV deletion 23290073
esv2735895 CNV deletion 23290073
esv2735896 CNV deletion 23290073
esv2735897 CNV deletion 23290073
esv2735898 CNV deletion 23290073
esv2735899 CNV deletion 23290073
esv2735900 CNV deletion 23290073
esv2735902 CNV deletion 23290073
esv2735903 CNV deletion 23290073
esv2735904 CNV deletion 23290073
esv2735906 CNV deletion 23290073
esv2735907 CNV deletion 23290073
esv2735908 CNV deletion 23290073
esv2735909 CNV deletion 23290073
esv2735910 CNV deletion 23290073
esv2735911 CNV deletion 23290073
esv2735913 CNV deletion 23290073
esv2735915 CNV deletion 23290073
esv2735918 CNV deletion 23290073
esv2735921 CNV deletion 23290073
esv2735922 CNV deletion 23290073
esv2735924 CNV deletion 23290073
esv2735926 CNV deletion 23290073
esv2735927 CNV deletion 23290073
esv2735930 CNV deletion 23290073
esv2735931 CNV deletion 23290073
esv2735935 CNV deletion 23290073
esv2735938 CNV deletion 23290073
esv2735943 CNV deletion 23290073
esv2735944 CNV deletion 23290073
esv2735945 CNV deletion 23290073
esv2735946 CNV deletion 23290073
esv2735947 CNV deletion 23290073
esv2735948 CNV deletion 23290073
esv2735949 CNV deletion 23290073
esv2735951 CNV deletion 23290073
esv2735952 CNV deletion 23290073
esv2735953 CNV deletion 23290073
esv2735954 CNV deletion 23290073
esv2735955 CNV deletion 23290073
esv2735956 CNV deletion 23290073
esv2735957 CNV deletion 23290073
esv2735958 CNV deletion 23290073
esv2735959 CNV deletion 23290073
esv2735960 CNV deletion 23290073
esv2735962 CNV deletion 23290073
esv2735963 CNV deletion 23290073
esv2735964 CNV deletion 23290073
esv2735965 CNV deletion 23290073
esv2735966 CNV deletion 23290073
esv2735967 CNV deletion 23290073
esv2735968 CNV deletion 23290073
esv2735970 CNV deletion 23290073
esv2735973 CNV deletion 23290073
esv2735974 CNV deletion 23290073
esv2735975 CNV deletion 23290073
esv2735976 CNV deletion 23290073
esv2735977 CNV deletion 23290073
esv2735978 CNV deletion 23290073
esv2735979 CNV deletion 23290073
esv2735980 CNV deletion 23290073
esv2735981 CNV deletion 23290073
esv2735982 CNV deletion 23290073
esv2735984 CNV deletion 23290073
esv2735985 CNV deletion 23290073
esv2735986 CNV deletion 23290073
esv2735987 CNV deletion 23290073
esv2735988 CNV deletion 23290073
esv2735989 CNV deletion 23290073
esv2735990 CNV deletion 23290073
esv2735991 CNV deletion 23290073
esv2735992 CNV deletion 23290073
esv2735993 CNV deletion 23290073
esv2735995 CNV deletion 23290073
esv2735996 CNV deletion 23290073
esv2735997 CNV deletion 23290073
esv2735998 CNV deletion 23290073
esv2735999 CNV deletion 23290073
esv2736000 CNV deletion 23290073
esv2736002 CNV deletion 23290073
esv2736008 CNV deletion 23290073
esv2736009 CNV deletion 23290073
esv2736010 CNV deletion 23290073
esv2736011 CNV deletion 23290073
esv2736012 CNV deletion 23290073
esv2741038 CNV deletion 23290073
esv2742233 CNV deletion 23290073
esv2742325 CNV deletion 23290073
esv2752150 CNV gain 17911159
esv2752151 CNV gain 17911159
esv27556 CNV loss 19812545
esv2759580 CNV gain 17122850
esv2761162 CNV loss 21179565
esv2764036 CNV gain+loss 21179565
esv2764060 CNV gain 21179565
esv28020 CNV gain+loss 19812545
esv28090 CNV loss 19812545
esv28383 CNV loss 19812545
esv2859458 CNV duplication 24192839
esv28985 CNV loss 19812545
esv29708 CNV gain 19812545
esv29721 CNV loss 19812545
esv3274496 CNV deletion 24192839
esv3274607 CNV deletion 24192839
esv3274718 CNV deletion 24192839
esv3274829 CNV deletion 24192839
esv3306238 CNV mobile element insertion 20981092
esv33068 CNV gain 17666407
esv3310589 CNV novel sequence insertion 20981092
esv3325123 CNV duplication 20981092
esv3335878 CNV duplication 20981092
esv3336121 CNV duplication 20981092
esv3338650 CNV insertion 20981092
esv3349654 CNV duplication 20981092
esv3350594 CNV duplication 20981092
esv3351677 CNV duplication 20981092
esv3364539 CNV duplication 20981092
esv3369133 CNV duplication 20981092
esv3376158 CNV duplication 20981092
esv3377143 OTHER inversion 20981092
esv3380131 CNV duplication 20981092
esv3380420 CNV insertion 20981092
esv33838 CNV gain 17666407
esv3383893 CNV insertion 20981092
esv33849 CNV gain 17666407
esv3390262 CNV duplication 20981092
esv3392269 CNV duplication 20981092
esv3393177 CNV duplication 20981092
esv3401809 CNV duplication 20981092
esv3401947 CNV duplication 20981092
esv3402551 CNV duplication 20981092
esv3408745 CNV duplication 20981092
esv3409 CNV loss 18987735
esv3417105 CNV duplication 20981092
esv3431657 CNV duplication 20981092
esv3433411 CNV duplication 20981092
esv3441337 CNV insertion 20981092
esv3442644 CNV duplication 20981092
esv3444070 CNV duplication 20981092
esv3542784 CNV deletion 23714750
esv3542787 CNV deletion 23714750
esv3542790 CNV deletion 23714750
esv3542793 CNV deletion 23714750
esv3542796 CNV deletion 23714750
esv3542797 CNV deletion 23714750
esv3542798 CNV deletion 23714750
esv3542802 CNV deletion 23714750
esv3542804 CNV deletion 23714750
esv3542806 CNV deletion 23714750
esv3542809 CNV deletion 23714750
esv3542810 CNV deletion 23714750
esv3542813 CNV deletion 23714750
esv3560 CNV loss 18987735
esv3572370 CNV loss 25503493
esv3576493 CNV gain 25503493
esv3615699 CNV gain 21293372
esv3615703 CNV loss 21293372
esv3615706 CNV loss 21293372
esv3615707 CNV loss 21293372
esv3615710 CNV loss 21293372
esv3615711 CNV loss 21293372
esv3615712 CNV gain 21293372
esv3615716 CNV loss 21293372
esv3615717 CNV loss 21293372
esv3615718 CNV loss 21293372
esv3615719 CNV loss 21293372
esv3615720 CNV loss 21293372
esv3615721 CNV loss 21293372
esv3615722 CNV loss 21293372
esv3615723 CNV loss 21293372
esv3615724 CNV loss 21293372
esv3615725 CNV loss 21293372
esv3615726 CNV loss 21293372
esv3615727 CNV loss 21293372
esv3615728 CNV loss 21293372
esv3615729 CNV gain 21293372
esv3615730 CNV loss 21293372
esv3615731 CNV gain 21293372
esv3615732 CNV gain 21293372
esv3684 CNV loss 18987735
esv3891245 CNV loss 25118596
esv3891246 CNV loss 25118596
esv3956 CNV loss 18987735
esv4054 CNV loss 18987735
esv4239 CNV loss 18987735
esv4672 CNV loss 18987735
esv4791 CNV loss 18987735
esv4996 CNV loss 18987735
esv5015 CNV loss 18987735
esv5043 CNV loss 18987735
esv5555 CNV loss 19470904
esv5759 CNV gain 19470904
esv6030 CNV loss 19470904
esv7545 CNV gain 19470904
esv8193 CNV loss 19470904
esv8571 CNV loss 19470904
esv8654 CNV loss 19470904
esv987843 CNV insertion 20482838
esv987957 CNV deletion 20482838
esv988181 CNV insertion 20482838
esv989590 CNV deletion 20482838
esv990226 CNV deletion 20482838
esv990816 CNV deletion 20482838
esv990979 CNV deletion 20482838
esv991166 CNV deletion 20482838
esv991388 CNV insertion 20482838
esv991402 CNV deletion 20482838
esv993502 CNV insertion 20482838
esv994490 CNV loss 20482838
esv995097 CNV insertion 20482838
esv996958 CNV gain 20482838
esv996959 CNV deletion 20482838
esv997326 CNV insertion 20482838
esv997534 CNV deletion 20482838
esv998111 CNV deletion 20482838
esv999497 CNV deletion 20482838
nsv1017428 CNV gain 25217958
nsv1018091 CNV loss 25217958
nsv1019742 CNV gain 25217958
nsv1020518 CNV gain 25217958
nsv1021392 CNV loss 25217958
nsv1023011 CNV gain+loss 25217958
nsv1027105 CNV gain 25217958
nsv1027875 CNV gain 25217958
nsv1029709 CNV gain 25217958
nsv1032751 CNV gain 25217958
nsv1034867 CNV loss 25217958
nsv1035073 CNV gain 25217958
nsv1075079 CNV deletion 25765185
nsv1075080 CNV deletion 25765185
nsv1075493 CNV deletion 25765185
nsv1075494 CNV deletion 25765185
nsv1075495 CNV deletion 25765185
nsv1076024 CNV deletion 25765185
nsv1076025 CNV deletion 25765185
nsv1076026 CNV deletion 25765185
nsv1076633 CNV duplication 25765185
nsv1076634 CNV duplication 25765185
nsv1076635 CNV duplication 25765185
nsv1076977 CNV deletion 25765185
nsv1076978 CNV deletion 25765185
nsv1076979 CNV deletion 25765185
nsv1076980 CNV deletion 25765185
nsv1076982 CNV deletion 25765185
nsv1076983 CNV deletion 25765185
nsv1076984 CNV deletion 25765185
nsv1076985 CNV deletion 25765185
nsv1076986 CNV deletion 25765185
nsv1077504 CNV duplication 25765185
nsv1077741 CNV insertion 25765185
nsv1078034 CNV duplication 25765185
nsv1078035 CNV duplication 25765185
nsv1078269 CNV insertion 25765185
nsv1078602 CNV duplication 25765185
nsv1078847 CNV insertion 25765185
nsv1109934 CNV deletion 24896259
nsv1110505 CNV duplication 24896259
nsv1110812 CNV insertion 24896259
nsv1110813 CNV insertion 24896259
nsv1110814 CNV insertion 24896259
nsv1110815 CNV insertion 24896259
nsv1115042 CNV deletion 24896259
nsv1115043 CNV deletion 24896259
nsv1115766 CNV duplication 24896259
nsv1115767 CNV duplication 24896259
nsv1116419 CNV insertion 24896259
nsv1117470 CNV tandem duplication 24896259
nsv1117471 CNV tandem duplication 24896259
nsv1117472 CNV tandem duplication 24896259
nsv1117784 CNV deletion 24896259
nsv1117785 CNV deletion 24896259
nsv1118033 CNV deletion 24896259
nsv1118034 CNV deletion 24896259
nsv1119152 CNV deletion 24896259
nsv1119241 CNV duplication 24896259
nsv1120551 CNV tandem duplication 24896259
nsv1120552 CNV tandem duplication 24896259
nsv1120553 CNV tandem duplication 24896259
nsv1121681 CNV deletion 24896259
nsv1122180 CNV deletion 24896259
nsv1124300 CNV deletion 24896259
nsv1124301 CNV deletion 24896259
nsv1124303 CNV deletion 24896259
nsv1124988 CNV duplication 24896259
nsv1124989 CNV duplication 24896259
nsv1125263 CNV insertion 24896259
nsv1125264 CNV insertion 24896259
nsv1125933 CNV tandem duplication 24896259
nsv1125934 CNV tandem duplication 24896259
nsv1126107 CNV deletion 24896259
nsv1126156 CNV deletion 24896259
nsv1126824 CNV deletion 24896259
nsv1126825 CNV deletion 24896259
nsv1128384 CNV deletion 24896259
nsv1128966 CNV duplication 24896259
nsv1129288 CNV insertion 24896259
nsv1129290 CNV insertion 24896259
nsv1129793 CNV tandem duplication 24896259
nsv1129794 CNV tandem duplication 24896259
nsv1130872 CNV deletion 24896259
nsv1132116 CNV deletion 24896259
nsv1132117 CNV deletion 24896259
nsv1132118 CNV deletion 24896259
nsv1132663 CNV duplication 24896259
nsv1132966 CNV insertion 24896259
nsv1132967 CNV insertion 24896259
nsv1133677 CNV deletion 24896259
nsv1133678 CNV deletion 24896259
nsv1135991 CNV deletion 24896259
nsv1137321 CNV deletion 24896259
nsv1137322 CNV deletion 24896259
nsv1137323 CNV deletion 24896259
nsv1137324 CNV deletion 24896259
nsv1137600 CNV deletion 24896259
nsv1137603 CNV deletion 24896259
nsv1139914 CNV duplication 24896259
nsv1139916 CNV duplication 24896259
nsv1140207 CNV insertion 24896259
nsv1140208 CNV insertion 24896259
nsv1140876 CNV deletion 24896259
nsv1140877 CNV deletion 24896259
nsv1140878 CNV deletion 24896259
nsv1141563 CNV duplication 24896259
nsv1141564 CNV duplication 24896259
nsv1141843 CNV insertion 24896259
nsv1141844 CNV insertion 24896259
nsv1142511 CNV tandem duplication 24896259
nsv1143200 CNV tandem duplication 24896259
nsv1143201 CNV tandem duplication 24896259
nsv1143354 CNV deletion 24896259
nsv1144209 CNV deletion 24896259
nsv1145898 CNV insertion 26484159
nsv1146227 CNV duplication 26484159
nsv1146405 CNV insertion 26484159
nsv1147535 CNV insertion 26484159
nsv1147624 CNV deletion 26484159
nsv1148128 CNV duplication 26484159
nsv1148904 CNV deletion 26484159
nsv1148945 CNV deletion 26484159
nsv1148985 CNV deletion 26484159
nsv1149784 CNV deletion 26484159
nsv1150081 CNV deletion 26484159
nsv1150133 CNV duplication 26484159
nsv1150257 CNV duplication 26484159
nsv1150696 CNV insertion 26484159
nsv1150725 CNV duplication 26484159
nsv1150867 CNV duplication 26484159
nsv1151665 CNV duplication 26484159
nsv1151969 CNV deletion 26484159
nsv1152268 CNV deletion 26484159
nsv1152622 CNV duplication 26484159
nsv1153133 CNV deletion 26484159
nsv1153451 CNV deletion 26484159
nsv1153608 CNV deletion 26484159
nsv1153832 CNV insertion 26484159
nsv1154134 CNV duplication 26484159
nsv1161672 CNV deletion 26073780
nsv1161673 CNV deletion 26073780
nsv365287 CNV deletion 16902084
nsv365303 CNV deletion 16902084
nsv365377 CNV deletion 16902084
nsv365835 CNV deletion 16902084
nsv365867 CNV deletion 16902084
nsv366062 CNV insertion 16902084
nsv366114 CNV deletion 16902084
nsv366306 CNV deletion 16902084
nsv366337 CNV deletion 16902084
nsv366641 CNV deletion 16902084
nsv366707 CNV deletion 16902084
nsv366744 CNV deletion 16902084
nsv366775 CNV deletion 16902084
nsv428191 CNV gain 18775914
nsv435851 CNV deletion 17901297
nsv442286 CNV loss 18776908
nsv442294 CNV loss 18776908
nsv465252 CNV loss 19166990
nsv470401 CNV gain 18288195
nsv507431 OTHER sequence alteration 20534489
nsv509230 CNV insertion 20534489
nsv509231 CNV insertion 20534489
nsv509232 CNV insertion 20534489
nsv509233 CNV insertion 20534489
nsv509234 CNV insertion 20534489
nsv509236 CNV insertion 20534489
nsv509237 CNV insertion 20534489
nsv510972 OTHER complex 20534489
nsv510974 OTHER complex 20534489
nsv511365 CNV loss 21212237
nsv512009 CNV loss 21212237
nsv512010 CNV loss 21212237
nsv512011 CNV loss 21212237
nsv512012 CNV loss 21212237
nsv512013 CNV loss 21212237
nsv512931 CNV insertion 21212237
nsv512932 CNV insertion 21212237
nsv515043 CNV gain 21397061
nsv518635 CNV loss 19592680
nsv519942 CNV gain+loss 19592680
nsv520895 CNV loss 19592680
nsv521980 CNV loss 19592680
nsv522408 CNV loss 19592680
nsv523513 CNV loss 19592680
nsv6023 CNV insertion 18451855
nsv6024 CNV insertion 18451855
nsv6025 CNV insertion 18451855
nsv6026 CNV deletion 18451855
nsv6027 CNV deletion 18451855
nsv609212 CNV loss 21841781
nsv609223 CNV loss 21841781
nsv609239 CNV loss 21841781
nsv609244 CNV gain 21841781
nsv609245 CNV loss 21841781
nsv609246 CNV loss 21841781
nsv609247 CNV loss 21841781
nsv609248 CNV loss 21841781
nsv609251 CNV loss 21841781
nsv609253 CNV loss 21841781
nsv609254 CNV gain+loss 21841781
nsv609259 CNV gain 21841781
nsv609260 CNV loss 21841781
nsv609268 CNV gain 21841781
nsv609293 CNV gain+loss 21841781
nsv609294 CNV gain+loss 21841781
nsv609307 CNV loss 21841781
nsv609315 CNV loss 21841781
nsv609329 CNV gain 21841781
nsv609330 CNV loss 21841781
nsv609345 CNV loss 21841781
nsv609352 CNV gain 21841781
nsv609356 CNV loss 21841781
nsv609357 CNV gain 21841781
nsv609358 CNV loss 21841781
nsv609359 CNV loss 21841781
nsv820523 CNV deletion 20802225
nsv820686 CNV deletion 20802225
nsv820728 CNV deletion 20802225
nsv821081 CNV deletion 20802225
nsv821219 CNV duplication 20802225
nsv821230 CNV deletion 20802225
nsv821497 CNV duplication 20802225
nsv8242 CNV loss 18304495
nsv8243 CNV gain+loss 18304495
nsv8244 CNV gain+loss 18304495
nsv8245 CNV gain 18304495
nsv8246 CNV gain 18304495
nsv8248 CNV gain 18304495
nsv8249 CNV gain 18304495
nsv831199 CNV gain 17160897
nsv831200 CNV loss 17160897
nsv831201 CNV loss 17160897
nsv951671 CNV deletion 24416366
nsv951672 CNV deletion 24416366
nsv951673 CNV deletion 24416366
nsv951674 CNV deletion 24416366
nsv951675 CNV deletion 24416366
nsv951676 CNV deletion 24416366
nsv951677 CNV deletion 24416366
nsv951678 CNV deletion 24416366
nsv951679 CNV deletion 24416366
nsv951680 CNV deletion 24416366
nsv957587 CNV deletion 24416366
nsv958461 CNV deletion 24416366

Variation tolerance for PTPRN2 Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.38; 95.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPRN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPRN2 Gene

Disorders for PTPRN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PTPRN2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insulinoma
  • islet cell tumor
multiple cranial nerve palsy
  • multiple cranial nerve palsies
diabetes mellitus, insulin-dependent
  • diabetes, type 1
glossopharyngeal nerve disease
  • glossopharyngeal nerve diseases
anomalous left coronary artery from the pulmonary artery
  • alcapa
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PTPR2_HUMAN
  • Note=Autoantigen in insulin-dependent diabetes mellitus (IDDM). {ECO:0000269 PubMed:8637868, ECO:0000269 PubMed:8798755, ECO:0000269 PubMed:8878534}.

Relevant External Links for PTPRN2

Genetic Association Database (GAD)
PTPRN2
Human Genome Epidemiology (HuGE) Navigator
PTPRN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPRN2
genes like me logo Genes that share disorders with PTPRN2: view

No data available for Genatlas for PTPRN2 Gene

Publications for PTPRN2 Gene

  1. ICAAR, a novel member of a new family of transmembrane, tyrosine phosphatase-like proteins. (PMID: 8954911) Smith P.D. … Crompton M.R. (Biochem. Biophys. Res. Commun. 1996) 2 3 4 22 64
  2. Cloning and characterization of islet cell antigen-related protein- tyrosine phosphatase (PTP), a novel receptor-like PTP and autoantigen in insulin-dependent diabetes. (PMID: 8798755) Cui L. … Pallen C.J. (J. Biol. Chem. 1996) 3 4 22 64
  3. Molecular cloning and characterization of the human transmembrane protein tyrosine phosphatase homologue, phogrin, an autoantigen of type 1 diabetes. (PMID: 8878534) Kawasaki E. … Eisenbarth G.S. (Biochem. Biophys. Res. Commun. 1996) 3 4 22 64
  4. PTPRN2 and PLCI^1 promote metastatic breast cancer cell migration through PI(4,5)P2-dependent actin remodeling. (PMID: 26620550) Sengelaub C.A. … Tavazoie S.F. (EMBO J. 2016) 3 4 64
  5. X-ray structure of the mature ectodomain of phogrin. (PMID: 25421040) Noguera M.E. … ErmA!cora M.R. (J. Struct. Funct. Genomics 2015) 3 4 64

Products for PTPRN2 Gene