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Aliases for PTPRS Gene

Aliases for PTPRS Gene

  • Protein Tyrosine Phosphatase, Receptor Type S 2 3 5
  • Receptor-Type Tyrosine-Protein Phosphatase Sigma 3 4
  • R-PTP-Sigma 3 4
  • EC 3.1.3.48 4 58
  • R-PTP-S 3 4
  • Receptor-Type Tyrosine-Protein Phosphatase S 3
  • Protein Tyrosine Phosphatase PTPsigma 3
  • PTPSIGMA 3

External Ids for PTPRS Gene

Previous GeneCards Identifiers for PTPRS Gene

  • GC19M005298
  • GC19M005146
  • GC19M004967

Summaries for PTPRS Gene

Entrez Gene Summary for PTPRS 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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTPRS Gene

PTPRS (Protein Tyrosine Phosphatase, Receptor Type S) is a Protein Coding gene. Diseases associated with PTPRS include Pineal Gland Cancer and Deafness, Autosomal Recessive 68. Among its related pathways are ECM proteoglycans and PAK Pathway. GO annotations related to this gene include phosphatase activity and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPRD.

UniProtKB/Swiss-Prot for PTPRS Gene

  • Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain development, especially for normal development of the pituitary gland and the olfactory bulb. Functions as tyrosine phosphatase (PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 and NTRK3 (By similarity). Plays a role in down-regulation of signaling cascades that lead to the activation of Akt and MAP kinases (By similarity). Down-regulates TLR9-mediated activation of NF-kappa-B, as well as production of TNF, interferon alpha and interferon beta (PubMed:26231120).

Gene Wiki entry for PTPRS Gene

Additional gene information for PTPRS Gene

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

Genomics for PTPRS Gene

Regulatory Elements for PTPRS Gene

Enhancers for PTPRS 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
GH19H005689 1.2 ENCODE 49.3 -351.3 -351299 4 ZFP64 DMAP1 YY1 ZNF143 ZNF548 SP3 ZC3H11A SSRP1 ZNF610 GLIS1 KHSRP DUS3L SAFB ENSG00000267571 SNRPEP4 SAFB2 RANBP3 VMAC PTPRS GTF2F1
GH19H005308 1.3 Ensembl ENCODE 28.2 +31.6 31627 1 HNRNPUL1 FEZF1 ZNF2 ZNF302 SP3 REST ZNF610 ZSCAN16 GLIS1 KDM1A DUS3L ENSG00000267030 ENSG00000267571 SAFB VMAC ENSG00000267255 RANBP3 ENSG00000267769 SAFB2 KDM4B
GH19H004722 1.4 ENCODE dbSUPER 22.1 +616.7 616700 4 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZC3H11A ZFP41 SSRP1 ZNF610 SAFB SAFB2 CCDC94 SNRPEP4 ENSG00000267030 HDGFL2 ENSG00000267769 APBA3 DPP9-AS1 PTPRS
GH19H005902 1.1 ENCODE 24.5 -563.4 -563359 3 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 CAPS KHSRP PTPRS SAFB SAFB2 DENND1C TRIP10 SNRPEP4 DUS3L GTF2F1
GH19H005690 0.9 ENCODE 28.8 -348.6 -348602 0 ZNF493 BATF ZEB1 ZNF138 ZNF366 ZNF354C ZNF143 ZNF548 CREM ZNF202 KHSRP SNRPEP4 DUS3L ENSG00000267571 SAFB GTF2F1 PTPRS SAFB2 RANBP3 RPL36
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPRS on UCSC Golden Path with GeneCards custom track

Promoters for PTPRS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106368 503 1401 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 FOS SP3

Genomic Location for PTPRS Gene

Chromosome:
19
Start:
5,158,495 bp from pter
End:
5,340,803 bp from pter
Size:
182,309 bases
Orientation:
Minus strand

Genomic View for PTPRS Gene

Genes around PTPRS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTPRS Gene

Proteins for PTPRS Gene

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

    Protein Symbol:
    Q13332-PTPRS_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase S
    Protein Accession:
    Q13332
    Secondary Accessions:
    • O75255
    • O75870
    • Q15718
    • Q16341
    • Q2M3R7

    Protein attributes for PTPRS Gene

    Size:
    1948 amino acids
    Molecular mass:
    217041 Da
    Quaternary structure:
    • Binding to large heparan sulfate proteoglycan structures promotes oligomerization. Binding to chondroitin sulfate proteoglycan does not lead to oligomerization (By similarity). Interacts (via Ig-like domains) with NTRK3 (PubMed:25385546). Interacts (via Ig-like domains) with NTRK1, but does not form detectable complexes with NTRK2 (By similarity). Interacts with PPFIA1, PPFIA2 and PPFIA3 (PubMed:8524829, PubMed:9624153).
    SequenceCaution:
    • Sequence=AAC50567.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTPRS Gene

    Alternative splice isoforms for PTPRS Gene

neXtProt entry for PTPRS Gene

Selected DME Specific Peptides for PTPRS Gene

Q13332:
  • PTPFLAFLRRVKTCNPPDAGP
  • DPVEMRR
  • LREFKVTDARDG
  • ERLKAND
  • LPCNKFKNRLVNI
  • YIATQGP
  • EMGREKC
  • VMLTKLRE
  • MVQTEDQY
  • SRTVRQFQF
  • VLRIQPLR
  • VGPGPESSPV
  • IAYDHSRV
  • GRNVLEL
  • PMPYVKWM
  • VVHCSAG
  • NASFIDGYR
  • VHCSAGVGRTG
  • PGQQFTW
  • SGGVASFVCQA
  • DYINASF
  • GVFITLSIVLERM
  • TRYSIGGLSP
  • MKTSVLL
  • RTATMLCAA
  • DYINANY
  • VMMTRLEE
  • PANLYVR
  • AVGSPMP
  • KCHQYWP
  • AEYNMPQY
  • WPDHGVP
  • GEGFIDFIGQVHKTKEQFGQ
  • WEEPVEPNGLI
  • ANLPCNK
  • QHGQIRGYQV
  • DFWRMVW
  • GAEDLTPEDDMP
  • KCDQYWP
  • GRTGCFI
  • RTGEQAP
  • VRRVAPRFSI
  • IDMGPQLKVVE
  • DQGKYEC
  • GNPDPEI
  • RGTETYG
  • DWPEQGVPK
  • VNIMPYE
  • SKAHTSRF
  • HKGATYVFRLAA
  • PIVVHCS
  • FRLAARSPQGLGA
  • RQFQFTDWPEQG
  • NGRIKQLRS
  • LPETFGDFWRM
  • TSVGDGP
  • GYRVYYT
  • GPVLAVVFIICIVIAILLYK

Post-translational modifications for PTPRS Gene

  • A cleavage occurs, separating the extracellular domain from the transmembrane segment. This process called ectodomain shedding is thought to be involved in receptor desensitization, signal transduction and/or membrane localization (By similarity).
  • Glycosylation at isoforms=6, 7, 5, 2, 3, 4263, isoforms=6, 7, 5, 2, 3, 4308, isoforms=6, 2, 3, 4733, and isoforms=6, 2, 3, 4940
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for PTPRS (PTP sigma/PTPRS)
  • Santa Cruz Biotechnology (SCBT) Antibodies for PTPRS

Domains & Families for PTPRS Gene

Gene Families for PTPRS Gene

Graphical View of Domain Structure for InterPro Entry

Q13332

UniProtKB/Swiss-Prot:

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

Function for PTPRS Gene

Molecular function for PTPRS Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor-type sigma,putatively involved in the development of the nervous system
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain development, especially for normal development of the pituitary gland and the olfactory bulb. Functions as tyrosine phosphatase (PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 and NTRK3 (By similarity). Plays a role in down-regulation of signaling cascades that lead to the activation of Akt and MAP kinases (By similarity). Down-regulates TLR9-mediated activation of NF-kappa-B, as well as production of TNF, interferon alpha and interferon beta (PubMed:26231120).

Enzyme Numbers (IUBMB) for PTPRS Gene

Phenotypes From GWAS Catalog for PTPRS Gene

Gene Ontology (GO) - Molecular Function for PTPRS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IDA 8524829
GO:0004725 protein tyrosine phosphatase activity ISS,IEA --
GO:0005515 protein binding IPI 16273344
GO:0008201 heparin binding ISS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTPRS: view
genes like me logo Genes that share phenotypes with PTPRS: view

Animal Models for PTPRS Gene

MGI Knock Outs for PTPRS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PTPRS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for PTPRS Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRS Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, axon. Perikaryon. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cell junction, synapse, synaptosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Is rapidly internalized when dendritic cells are stimulated with the TLR9 ligand cytidine-phosphate-guanosine (CpG) (PubMed:26231120). Detected in a punctate pattern along neurites and axon growth cones (By similarity). {ECO:0000250 UniProtKB:B0V2N1, ECO:0000269 PubMed:26231120}.

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 PTPRS gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 2
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8524829
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTPRS: view

Pathways & Interactions for PTPRS Gene

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

SIGNOR curated interactions for PTPRS Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PTPRS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA,IEA 8524829
GO:0007155 cell adhesion IEA --
GO:0010977 negative regulation of neuron projection development ISS --
GO:0016311 dephosphorylation IEA --
GO:0021510 spinal cord development IEA --
genes like me logo Genes that share ontologies with PTPRS: view

Drugs & Compounds for PTPRS Gene

(5) Drugs for PTPRS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etidronic acid Approved Pharma Target, inhibitor 83
Alendronate Approved Pharma Inhibition, Inhibitor, Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 164
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(4) Additional Compounds for PTPRS 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 PTPRS: view

Transcripts for PTPRS Gene

Unigene Clusters for PTPRS Gene

Protein tyrosine phosphatase, receptor type, S:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PTPRS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - - - - -
SP2:
SP3:
SP4:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:

Relevant External Links for PTPRS Gene

GeneLoc Exon Structure for
PTPRS
ECgene alternative splicing isoforms for
PTPRS

Expression for PTPRS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPRS Gene

This gene is overexpressed in Cerebrospinal fluid (32.6).

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



Protein tissue co-expression partners for PTPRS Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPRS Gene:

PTPRS

SOURCE GeneReport for Unigene cluster for PTPRS Gene:

Hs.744928

mRNA Expression by UniProt/SwissProt for PTPRS Gene:

Q13332-PTPRS_HUMAN
Tissue specificity: Detected in peripheral blood plasmacytoid dendritic cells (at protein level) (PubMed:26231120). Detected in all tissues tested except for placenta and liver (PubMed:8524829, PubMed:8992885). Detected in peripheral blood plasmacytoid dendritic cells (PubMed:26231120).

Evidence on tissue expression from TISSUES for PTPRS Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with PTPRS: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRS Gene

Orthologs for PTPRS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PTPRS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPRS 33 34
  • 99.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTPRS 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTPRS 33 34
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Ptprs 33 16 34
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Ptprs 33
  • 86.17 (n)
dog
(Canis familiaris)
Mammalia PTPRS 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPRS 34
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRS 34
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ptprsb 34
  • 91 (a)
OneToMany
ptprsa 33 34
  • 71.6 (n)
ptprs 33
fruit fly
(Drosophila melanogaster)
Insecta Ptp52F 35
  • 41 (a)
Lar 35 34
  • 39 (a)
Ptp69D 35
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea Y48G9A.9 35
  • 36 (a)
F55F8.7 35
  • 35 (a)
K04D7.4 35
  • 35 (a)
F25H5.7 35
  • 34 (a)
T22C1.8 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTP1 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1998 34
  • 45 (a)
OneToMany
Species where no ortholog for PTPRS 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PTPRS Gene

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

Paralogs for PTPRS Gene

Paralogs for PTPRS Gene

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

Variants for PTPRS Gene

Sequence variations from dbSNP and Humsavar for PTPRS Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs775778266 A colorectal cancer sample 5,222,805(+) GCAGC(A/G)TGAGC intron-variant, reference, missense
rs1000017169 -- 5,302,590(+) AAGAG(A/G)TTGGC intron-variant
rs1000020878 -- 5,216,690(+) GCGAA(A/T)GGAAG intron-variant
rs1000026082 -- 5,226,145(+) AGAGG(A/G)CGCCT intron-variant
rs1000030687 -- 5,308,903(+) TGCTC(C/G)CTCCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv1006709 CNV loss 20482838
esv22199 CNV loss 19812545
esv2667935 CNV deletion 23128226
esv2718041 CNV deletion 23290073
esv2718042 CNV deletion 23290073
esv3574286 CNV gain 25503493
nsv1055783 CNV gain 25217958
nsv1072308 CNV deletion 25765185
nsv1077335 CNV duplication 25765185
nsv1113963 CNV deletion 24896259
nsv1118807 CNV deletion 24896259
nsv1118808 CNV deletion 24896259
nsv1123211 CNV deletion 24896259
nsv510750 CNV deletion 20534489
nsv833723 CNV loss 17160897
nsv833724 CNV loss 17160897
nsv953951 CNV deletion 24416366
nsv962995 CNV duplication 23825009

Variation tolerance for PTPRS Gene

Residual Variation Intolerance Score: 0.361% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPRS Gene

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

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

Disorders for PTPRS Gene

MalaCards: The human disease database

(5) MalaCards diseases for PTPRS Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
pineal gland cancer
  • malignant pineal region tumor
deafness, autosomal recessive 68
  • autosomal recessive nonsyndromic deafness 68
deafness, autosomal recessive 15
  • autosomal recessive nonsyndromic deafness 15
ureterocele
malignant ependymoma
  • ependymal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search PTPRS in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTPRS

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

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

Publications for PTPRS Gene

  1. Genetic variation in receptor protein tyrosine phosphatase sigma is associated with type 2 diabetes in Swedish Caucasians. (PMID: 17893260) Långberg EC … Ostenson CG (European journal of endocrinology 2007) 3 22 45 60
  2. Human protein tyrosine phosphatase-sigma: alternative splicing and inhibition by bisphosphonates. (PMID: 8992885) Endo N … Schmidt A (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1996) 3 4 22 60
  3. Physical mapping of receptor type protein tyrosine phosphatase sigma (PTPRS) to human chromosome 19p13.3. (PMID: 8954782) Wagner J … Olsen AS (Genomics 1996) 2 3 22 60
  4. The LAR/PTP delta/PTP sigma subfamily of transmembrane protein-tyrosine-phosphatases: multiple human LAR, PTP delta, and PTP sigma isoforms are expressed in a tissue-specific manner and associate with the LAR-interacting protein LIP.1. (PMID: 8524829) Pulido R … Streuli M (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 60
  5. Protein Tyrosine Phosphatase PTPRS Is an Inhibitory Receptor on Human and Murine Plasmacytoid Dendritic Cells. (PMID: 26231120) Bunin A … Reizis B (Immunity 2015) 3 4 60

Products for PTPRS Gene

Sources for PTPRS Gene

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