The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and ... See more...

Aliases for PTPRK Gene

Aliases for PTPRK Gene

  • Protein Tyrosine Phosphatase Receptor Type K 2 3 5
  • R-PTP-Kappa 2 3 4
  • Receptor-Type Tyrosine-Protein Phosphatase Kappa 3 4
  • Protein-Tyrosine Phosphatase Kappa 3 4
  • EC 3.1.3.48 4 51
  • DJ480J14.2.1 (Protein Tyrosine Phosphatase, Receptor Type, K (R-PTP-KAPPA, Protein Tyrosine Phosphatase Kappa , Protein Tyrosine Phosphatase Kappa 3
  • Protein-Tyrosine Phosphatase, Receptor Type, Kappa 3
  • PTPRK 5
  • PTPK 4

External Ids for PTPRK Gene

Previous GeneCards Identifiers for PTPRK Gene

  • GC06M128137
  • GC06M128270
  • GC06M128331
  • GC06M125866
  • GC06M128289

Summaries for PTPRK Gene

Entrez Gene Summary for PTPRK Gene

  • The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTPRK Gene

PTPRK (Protein Tyrosine Phosphatase Receptor Type K) is a Protein Coding gene. Diseases associated with PTPRK include Extragonadal Germ Cell Cancer and Eye Lymphoma. Among its related pathways are Signaling by GPCR and Commom Cytokine Receptor G Chain Siganaling Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRM.

UniProtKB/Swiss-Prot Summary for PTPRK Gene

  • Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa.

Gene Wiki entry for PTPRK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTPRK Gene

Genomics for PTPRK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPRK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J128515 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 253.1 +2.0 1972 6.4 MXD4 CEBPA ZNF217 CTCF ZEB1 ELF1 HOMEZ ZNF610 THAP11 CEBPB PTPRK HSALNG0053405 lnc-THEMIS-7 lnc-LAMA2-5 lnc-LAMA2-2 THEMIS
GH06J128397 Promoter 0.3 EPDnew 250.1 +123.1 123064 0.1 PTPRK lnc-THEMIS-1 piR-45035-161 THEMIS
GH06J128490 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +28.9 28878 2.9 EBF1 RBM22 SPI1 SMARCE1 FOXA1 ATF2 DPF2 PRDM4 TRIM28 ZNF366 PTPRK ENSG00000224733 lnc-THEMIS-2 THEMIS
GH06J128493 Enhancer 1 Ensembl dbSUPER 11.2 +25.6 25615 2.4 FEZF1 CEBPA ZIC2 HOMEZ FOXA2 ZNF511 SAP130 ZNF843 TEAD3 RBM22 PTPRK ENSG00000224733 lnc-THEMIS-2 THEMIS
GH06J129183 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.7 -663.9 -663865 2.6 ZSCAN16 FEZF1 ZEB1 CEBPB ZNF639 EP300 KLF7 ZNF843 ZNF146 BCL11B HSALNG0053421 PTPRK piR-51671-072 LAMA2 ARHGAP18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPRK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPRK

Top Transcription factor binding sites by QIAGEN in the PTPRK gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4

Genomic Locations for PTPRK Gene

Latest Assembly
chr6:127,968,785-128,520,616
(GRCh38/hg38)
Size:
551,832 bases
Orientation:
Minus strand

Previous Assembly
chr6:128,289,930-128,841,744
(GRCh37/hg19 by Entrez Gene)
Size:
551,815 bases
Orientation:
Minus strand

chr6:128,289,924-128,841,870
(GRCh37/hg19 by Ensembl)
Size:
551,947 bases
Orientation:
Minus strand

Genomic View for PTPRK Gene

Genes around PTPRK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTPRK Gene

Proteins for PTPRK Gene

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

    Protein Symbol:
    Q15262-PTPRK_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase kappa
    Protein Accession:
    Q15262
    Secondary Accessions:
    • B2RTQ8
    • B7ZMG0
    • Q14763
    • Q5TG10
    • Q5TG11

    Protein attributes for PTPRK Gene

    Size:
    1439 amino acids
    Molecular mass:
    162102 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PTPRK Gene

    Alternative splice isoforms for PTPRK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRK Gene

Selected DME Specific Peptides for PTPRK Gene

Q15262:
  • NYINAAL
  • TITVLLRPAQ
  • PFTVGDN
  • PIAPPQL
  • EGVVDIYNCV
  • LVEVGRVKC
  • VQTEEQY
  • YIATQGP
  • ELAVSTFWPNEYQ
  • ITQYEISY
  • NSIIGDGPI
  • IAYDHSRV
  • VVHCSAG
  • EYESFFEG
  • GRTGCYIV
  • NPEGRKE
  • YKLWHLDPD
  • DYINANY
  • WPDHGVP
  • HGVPYHATGLL
  • RVADLLQHI
  • QTEEQYIFIHDA
  • HCLNGGGRSG
  • KENDTHCIDF
  • DFWRLVYDYGCTSIVMLN
  • VLLTRPGEGGTG
  • LHPGTTY
  • PIVVHCS
  • DRCLPFLI

Post-translational modifications for PTPRK Gene

  • This protein undergoes proteolytic processing.
  • Glycosylation at Asn101, Asn140, Asn211, Asn416, Asn424, Asn436, Asn462, Asn552, Asn586, Asn590, Asn607, Asn690, and Asn833
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTPRK_HUMAN (1709)

Antibodies for research

  • Boster Bio Antibodies for PTPRK
  • Santa Cruz Biotechnology (SCBT) Antibodies for PTPRK

Domains & Families for PTPRK Gene

Gene Families for PTPRK Gene

Protein Domains for PTPRK Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
  • Fibronectin type III repeat signature
  • Protein tyrosine phosphatase signature
  • MAM domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for PTPRK Gene

GenScript: Design optimal peptide antigens:
  • Receptor-type tyrosine-protein phosphatase kappa (PTPRK_HUMAN)
  • Protein tyrosine phosphatase, receptor type, K (Q5JRN8_HUMAN)
  • Protein tyrosine phosphatase, receptor type, K (Q5JRZ3_HUMAN)
  • Protein tyrosine phosphatase, receptor type, K (Q5JT32_HUMAN)
  • Protein tyrosine phosphatase, receptor type, K (Q5JT33_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15262

UniProtKB/Swiss-Prot:

PTPRK_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily.
genes like me logo Genes that share domains with PTPRK: view

Function for PTPRK Gene

Molecular function for PTPRK Gene

UniProtKB/Swiss-Prot Function:
Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000255|PROSITE-ProRule:PRU10044};.
GENATLAS Biochemistry:
protein tyrosine phosphatase receptor type,kappa polypeptide,expressed in spleen,prostate,ovary,keratinocytes,epidermal cell lines

Enzyme Numbers (IUBMB) for PTPRK Gene

Phenotypes From GWAS Catalog for PTPRK Gene

Gene Ontology (GO) - Molecular Function for PTPRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,IDA 8663237
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity NAS 9047348
GO:0005515 protein binding IEA,IPI 15899872
GO:0008013 beta-catenin binding IPI 8663237
genes like me logo Genes that share ontologies with PTPRK: view
genes like me logo Genes that share phenotypes with PTPRK: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPRK

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTPRK Gene

Localization for PTPRK Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRK Gene

Cell junction, adherens junction. Cell membrane. Single-pass type I 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 PTPRK gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane NAS 9047348
GO:0005911 cell-cell junction IDA 8663237
GO:0005912 adherens junction IEA --
GO:0009986 cell surface IDA 18276111
genes like me logo Genes that share ontologies with PTPRK: view

Pathways & Interactions for PTPRK Gene

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

Pathways by source for PTPRK Gene

1 Sino Biological pathway for PTPRK Gene
3 Reactome pathways for PTPRK Gene
1 Qiagen pathway for PTPRK Gene
  • Epithelial Adherens Junctions

SIGNOR curated interactions for PTPRK Gene

Activates:
Other effect:

Gene Ontology (GO) - Biological Process for PTPRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA,IDA 16263724
GO:0007155 cell adhesion IEA,IMP 15899872
GO:0007165 signal transduction IDA 16849327
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 15899872
GO:0008285 negative regulation of cell proliferation IDA 15899872
genes like me logo Genes that share ontologies with PTPRK: view

Drugs & Compounds for PTPRK Gene

(3) Drugs for PTPRK Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PTPRK: view

Transcripts for PTPRK Gene

mRNA/cDNA for PTPRK Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPRK

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4:
SP5:
SP6: - -
SP7: - -
SP8:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for PTPRK Gene

GeneLoc Exon Structure for
PTPRK

Expression for PTPRK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPRK Gene

This gene is overexpressed in Amniocyte (16.9) and Breast (7.6).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTPRK

SOURCE GeneReport for Unigene cluster for PTPRK Gene:

Hs.155919

mRNA Expression by UniProt/SwissProt for PTPRK Gene:

Q15262-PTPRK_HUMAN
Tissue specificity: High levels in lung, brain and colon; less in liver, pancreas, stomach, kidney, placenta and mammary carcinoma.

Evidence on tissue expression from TISSUES for PTPRK Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Intestine(2.6)
  • Skin(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PTPRK: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRK Gene

Orthologs for PTPRK Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTPRK 30 31
  • 99.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTPRK 31
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PTPRK 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRK 30 31
  • 93.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPRK 30 31
  • 92.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptprk 30 17 31
  • 89.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptprk 30
  • 88.61 (n)
Chicken
(Gallus gallus)
Aves PTPRK 30 31
  • 83.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTPRK 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptprk 30
  • 79.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii ptprk 30 31
  • 73.49 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta Ptp52F 32
  • 43 (a)
CG7180 32
  • 34 (a)
Ptp69D 32
  • 30 (a)
Worm
(Caenorhabditis elegans)
Secernentea F47B3.7 32
  • 35 (a)
T22C1.8 32
  • 34 (a)
Y48G9A.9 32
  • 34 (a)
T27A3.5 32
  • 34 (a)
C55B7.3 32
  • 33 (a)
ZK484.7 32
  • 33 (a)
F10G8.1 32
  • 31 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1390 31
  • 39 (a)
OneToMany
Species where no ortholog for PTPRK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 PTPRK Gene

ENSEMBL:
Gene Tree for PTPRK (if available)
TreeFam:
Gene Tree for PTPRK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRK: view image

Paralogs for PTPRK Gene

(31) SIMAP similar genes for PTPRK Gene using alignment to 13 proteins:

  • PTPRK_HUMAN
  • B7ZMG0_HUMAN
  • E9PGC5_HUMAN
  • E9PMV4_HUMAN
  • E9PRW2_HUMAN
  • F5GXI4_HUMAN
  • H0Y6P5_HUMAN
  • H0Y6V4_HUMAN
  • H0YD44_HUMAN
  • H0YDP9_HUMAN
  • Q5TG12_HUMAN
  • Q6P493_HUMAN
  • Q86WJ2_HUMAN
genes like me logo Genes that share paralogs with PTPRK: view

Variants for PTPRK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTPRK Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
916695 Uncertain Significance: sellar metastasis from primary bronchial carcinoid tumor 128,078,900(-) T/C
NM_002844.4(PTPRK):c.1796A>G (p.Tyr599Cys)
MISSENSE
rs11962559 Benign: not provided 128,083,730(-) G/A
NM_002844.4(PTPRK):c.1560C>T (p.Ile520=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs35140919 Benign: not provided 127,981,272(-) G/C
NM_002844.4(PTPRK):c.3555C>G (p.Thr1185=)
SYNONYMOUS
rs374096394 Likely Benign: not provided 128,322,032(-) T/C
NM_002844.4(PTPRK):c.495+7A>G
INTRON
rs61757810 Benign: not provided 128,089,790(-) G/A
NM_002844.4(PTPRK):c.1365C>T (p.Asn455=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTPRK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv10930n54 CNV loss 21841781
dgv10931n54 CNV loss 21841781
dgv10932n54 CNV loss 21841781
dgv10933n54 CNV loss 21841781
dgv10934n54 CNV loss 21841781
esv1288742 CNV insertion 17803354
esv24443 CNV loss 19812545
esv25848 CNV loss 19812545
esv2658020 CNV deletion 23128226
esv2668728 CNV deletion 23128226
esv2676123 CNV deletion 23128226
esv2732686 CNV deletion 23290073
esv2732687 CNV deletion 23290073
esv2763955 CNV loss 21179565
esv3334251 CNV insertion 20981092
esv3449513 CNV duplication 20981092
esv3540446 CNV deletion 23714750
esv3540448 CNV deletion 23714750
esv3571389 CNV loss 25503493
esv3571390 CNV loss 25503493
esv3571391 CNV loss 25503493
esv3610734 CNV loss 21293372
esv3610736 CNV loss 21293372
esv3610737 CNV loss 21293372
esv3610739 CNV loss 21293372
esv3610741 CNV loss 21293372
esv3610743 CNV loss 21293372
esv990030 CNV insertion 20482838
nsv1024516 CNV loss 25217958
nsv1031827 CNV loss 25217958
nsv1142017 OTHER inversion 24896259
nsv478502 CNV novel sequence insertion 20440878
nsv509153 CNV insertion 20534489
nsv510906 OTHER complex 20534489
nsv516115 CNV loss 19592680
nsv516794 CNV loss 19592680
nsv528869 CNV loss 19592680
nsv5470 CNV insertion 18451855
nsv5471 CNV deletion 18451855
nsv604642 CNV loss 21841781
nsv604643 CNV loss 21841781
nsv604644 CNV loss 21841781
nsv604645 CNV loss 21841781
nsv604651 CNV loss 21841781
nsv604652 CNV loss 21841781
nsv7967 CNV gain 18304495
nsv830800 CNV gain 17160897

Variation tolerance for PTPRK Gene

Residual Variation Intolerance Score: 5.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRK Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PTPRK Gene

MalaCards: The human disease database

(5) MalaCards diseases for PTPRK Gene - From: COP

Disorder Aliases PubMed IDs
extragonadal germ cell cancer
  • extragonadal germ cell malignant tumor
eye lymphoma
  • lymphoma of eye
argyll robertson pupil
  • argyll robertson phenomenon or pupil, nonsyphilitic
abnormal pupillary function
central nervous system hematologic cancer
  • cns hematopoietic tumor
- elite association - COSMIC cancer census association via MalaCards
Search PTPRK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTPRK

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPRK Gene

Publications for PTPRK Gene

  1. Molecular cloning and chromosomal localization of a human gene homologous to the murine R-PTP-kappa, a receptor-type protein tyrosine phosphatase. (PMID: 9047348) Yang Y … Ha H (Gene 1997) 2 3 4 23
  2. Association of human protein-tyrosine phosphatase kappa with members of the armadillo family. (PMID: 8663237) Fuchs M … Ullrich A (The Journal of biological chemistry 1996) 2 3 4 23
  3. A genome-wide association study for age-related hearing impairment in the Saami. (PMID: 20068591) Van Laer L … Van Camp G (European journal of human genetics : EJHG 2010) 3 41
  4. The effect of receptor protein tyrosine phosphatase kappa on the change of cell adhesion and proliferation induced by N-acetylglucosaminyltransferase V. (PMID: 19911372) Wang C … Zha X (Journal of cellular biochemistry 2010) 3 23
  5. Receptor type protein tyrosine phosphatase-kappa mediates cross-talk between transforming growth factor-beta and epidermal growth factor receptor signaling pathways in human keratinocytes. (PMID: 19864455) Xu Y … Fisher GJ (Molecular biology of the cell 2010) 3 23

Products for PTPRK Gene

Sources for PTPRK Gene