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 domain, a single transmembrane segment and one intracytoplasmic catalytic doma... See more...

Aliases for PTPRB Gene

Aliases for PTPRB Gene

  • Protein Tyrosine Phosphatase Receptor Type B 2 3 5
  • Vascular Endothelial Protein Tyrosine Phosphatase 3 4
  • Receptor-Type Tyrosine-Protein Phosphatase Beta 3 4
  • EC 3.1.3.48 4 50
  • VE-PTP 3 4
  • PTPB 3 4
  • Protein Tyrosine Phosphatase, Receptor Type, Beta Polypeptide 3
  • Protein-Tyrosine Phosphatase Beta 4
  • R-PTP-BETA 3
  • R-PTP-Beta 4
  • HPTP-BETA 3
  • HPTPB 3
  • VEPTP 3
  • PTPRB 5

External Ids for PTPRB Gene

Previous HGNC Symbols for PTPRB Gene

  • PTPB

Previous GeneCards Identifiers for PTPRB Gene

  • GC12M070786
  • GC12M070631
  • GC12M069201
  • GC12M070910
  • GC12M067960

Summaries for PTPRB Gene

Entrez Gene Summary for PTPRB 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 domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

CIViC Summary for PTPRB Gene

GeneCards Summary for PTPRB Gene

PTPRB (Protein Tyrosine Phosphatase Receptor Type B) is a Protein Coding gene. Diseases associated with PTPRB include Generalized Epilepsy With Febrile Seizures Plus, Type 1 and Skin Angiosarcoma. Among its related pathways are Adherens junction and Activation of cAMP-Dependent PKA. Gene Ontology (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 Summary for PTPRB Gene

  • Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growth. Essential for the maintenance of endothelial cell contact integrity and for the adhesive function of VE-cadherin in endothelial cells and this requires the presence of plakoglobin (By similarity).

Gene Wiki entry for PTPRB Gene

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

Genomics for PTPRB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPRB 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
GH12J070609 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 275.1 +29.2 29239 5.2 IKZF1 ZNF600 ZIC2 CEBPB ZNF341 MAX SIN3A EP300 ELF1 FOXA2 PTPRB HSALNG0092323 piR-57133-122 KCNMB4
GH12J070639 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 256.6 +1.4 1439 3.2 YY1 SPI1 ZBTB33 ZNF366 PTPRB FAHD2P1 HSALNG0092324 KCNMB4
GH12J070638 Enhancer 0.6 ENCODE dbSUPER 250.7 -1.5 -1531 0.5 EP300 MEIS2 POLR2A FOS PKNOX1 PTPRB RF00017-1078 lnc-PTPRB-3 HSALNG0092325 PTPRR
GH12J070660 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -24.1 -24074 2.6 IKZF1 NCOR1 ZNF600 MYC JUND ZNF580 ZNF592 ATF2 SMAD5 BHLHE40 RF00017-1078 CNOT2 PTPRB FAHD2P1 lnc-PTPRB-3 HSALNG0092325 PTPRR
GH12J070691 Enhancer 0.9 FANTOM5 Ensembl ENCODE 18.9 -54.4 -54361 2.8 CTCF RXRA RAD21 SMC3 JUND SP1 NR2F2 PTPRB TSPAN8 piR-38352-125 FAHD2P1 PTPRR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PTPRB gene promoter:
  • AML1a
  • AP-4
  • E47
  • FOXC1
  • FOXI1
  • GATA-2
  • HFH-3
  • Olf-1
  • Sox5
  • SRY

Genomic Locations for PTPRB Gene

Latest Assembly
chr12:70,515,870-70,637,440
(GRCh38/hg38)
Size:
121,571 bases
Orientation:
Minus strand

Previous Assembly
chr12:70,909,650-71,031,209
(GRCh37/hg19 by Entrez Gene)
Size:
121,560 bases
Orientation:
Minus strand

chr12:70,910,630-71,031,220
(GRCh37/hg19 by Ensembl)
Size:
120,591 bases
Orientation:
Minus strand

Genomic View for PTPRB Gene

Genes around PTPRB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTPRB Gene

Proteins for PTPRB Gene

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

    Protein Symbol:
    P23467-PTPRB_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase beta
    Protein Accession:
    P23467
    Secondary Accessions:
    • B7ZKS8
    • B7ZKT0
    • C9JX87
    • F5H3G6
    • Q14D85
    • Q3MIV7

    Protein attributes for PTPRB Gene

    Size:
    1997 amino acids
    Molecular mass:
    224301 Da
    Quaternary structure:
    • Monomer. Interacts with TEK (PubMed:19451274). Interacts via fibronectin type-III 17 domain with CDH5. Detected in a complex with CNTN1 and NRCAM (By similarity). Interacts (phosphorylated form) with FYN and GRB2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PTPRB Gene

    Alternative splice isoforms for PTPRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRB Gene

Selected DME Specific Peptides for PTPRB Gene

P23467:
  • VVHCSAG
  • VHCSAGVGRTG
  • WPDHGVP

Post-translational modifications for PTPRB Gene

  • Glycosylation at Asn28, Asn53, Asn75, Asn172, Asn198, Asn267, Asn321, Asn479, Asn414, Asn421, Asn544, Asn574, Asn598, Asn652, Asn721, Asn829, Asn1040, Asn1096, Asn1163, Asn1185, Asn1212, Asn1274, Asn1367, Asn1470, Asn1474, and Asn1518
  • Modification sites at PhosphoSitePlus

Domains & Families for PTPRB Gene

Gene Families for PTPRB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PTPRB Gene

Suggested Antigen Peptide Sequences for PTPRB Gene

GenScript: Design optimal peptide antigens:
  • PTPRB protein (B7ZKS8_HUMAN)
  • Vascular endothelial protein tyrosine phosphatase (PTPRB_HUMAN)
  • cDNA FLJ46721 fis, clone TRACH3018524, highly similar to Protein-tyrosine phosphatase beta (EC 3.1.3.48) (Q6ZR19_HUMAN)
  • PTPRB protein (Q86VA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23467

UniProtKB/Swiss-Prot:

PTPRB_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
genes like me logo Genes that share domains with PTPRB: view

Function for PTPRB Gene

Molecular function for PTPRB Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growth. Essential for the maintenance of endothelial cell contact integrity and for the adhesive function of VE-cadherin in endothelial cells and this requires the presence of plakoglobin (By similarity).
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};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by hypoxia.
GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor-type,beta polypeptide

Enzyme Numbers (IUBMB) for PTPRB Gene

Phenotypes From GWAS Catalog for PTPRB Gene

Gene Ontology (GO) - Molecular Function for PTPRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS 2170109
GO:0005515 protein binding IEA,IPI 12840032
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTPRB: view
genes like me logo Genes that share phenotypes with PTPRB: view

Animal Models for PTPRB Gene

MGI Knock Outs for PTPRB:

Animal Models for research

  • Taconic Biosciences Mouse Models for PTPRB

miRNA for PTPRB Gene

miRTarBase miRNAs that target PTPRB

Inhibitory RNAs for research

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

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

Localization for PTPRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRB Gene

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 PTPRB gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2170109
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with PTPRB: view

Pathways & Interactions for PTPRB Gene

PathCards logo

SuperPathways for PTPRB Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Innate Immune System
3 Adherens junction
4 TNFR1 Pathway
.42
5 PAK Pathway
.36
genes like me logo Genes that share pathways with PTPRB: view

Pathways by source for PTPRB Gene

1 BioSystems pathway for PTPRB Gene
3 Reactome pathways for PTPRB Gene
1 KEGG pathway for PTPRB Gene
6 Qiagen pathways for PTPRB Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Apoptotic Pathways Triggered By HIV1
  • cAMP Pathway
  • Epithelial Adherens Junctions

SIGNOR curated interactions for PTPRB Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PTPRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IBA 21873635
GO:0006470 protein dephosphorylation TAS 2170109
GO:0006796 phosphate-containing compound metabolic process TAS 2170109
GO:0016311 dephosphorylation IDA 19116766
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
genes like me logo Genes that share ontologies with PTPRB: view

Drugs & Compounds for PTPRB Gene

(9) Drugs for PTPRB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
(4-{4-[(TERT-BUTOXYCARBONYL)AMINO]-2,2-BIS(ETHOXYCARBONYL)BUTYL}PHENYL)SULFAMIC ACID Experimental Pharma Target 0
(4-ETHYLPHENYL)SULFAMIC ACID Experimental Pharma Target 0
{4-[2,2-BIS(5-METHYL-1,2,4-OXADIAZOL-3-YL)-3-PHENYLPROPYL]PHENYL}SULFAMIC ACID Experimental Pharma Target 0
{4-[2-BENZYL-3-METHOXY-2-(METHOXYCARBONYL)-3-OXOPROPYL]PHENYL}SULFAMIC ACID Experimental Pharma Target 0

(3) Additional Compounds for PTPRB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PTPRB: view

Transcripts for PTPRB Gene

mRNA/cDNA for PTPRB Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 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 PTPRB

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

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

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PTPRB Gene

GeneLoc Exon Structure for
PTPRB

Expression for PTPRB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPRB Gene

This gene is overexpressed in Platelet (32.5), Liver (13.5), and Pancreatic juice (11.8).

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



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

SOURCE GeneReport for Unigene cluster for PTPRB Gene:

Hs.434375

Evidence on tissue expression from TISSUES for PTPRB Gene

  • Intestine(4.4)
  • Heart(2.8)
  • Nervous system(2.6)
  • Kidney(2.4)
  • Spleen(2.3)
  • Lung(2.3)
  • Muscle(2.2)
  • Liver(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PTPRB: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRB Gene

Orthologs for PTPRB Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTPRB 29 30
  • 98.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRB 29 30
  • 88.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPRB 29 30
  • 87.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptprb 29 16 30
  • 84.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptprb 29
  • 84.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia PTPRB 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTPRB 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTPRB 29 30
  • 70.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTPRB 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptprb 29
  • 65.08 (n)
Str.12713 29
Zebrafish
(Danio rerio)
Actinopterygii ptprb 29 30
  • 53.46 (n)
OneToOne
Dr.12345 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ptp10D 29 30 31
  • 44.94 (n)
ManyToMany
Ptp52F 31
  • 40 (a)
Ptp4E 30 31
  • 25 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004246 29
  • 43.17 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y48G9A.9 31
  • 34 (a)
ZK354.8 31
  • 34 (a)
B0207.1 31
  • 32 (a)
F47B3.1 31
  • 30 (a)
F47B3.6 31
  • 30 (a)
T27A3.5 31
  • 30 (a)
dep-1 30
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.962 30
  • 55 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5519 29
Species where no ortholog for PTPRB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 PTPRB Gene

ENSEMBL:
Gene Tree for PTPRB (if available)
TreeFam:
Gene Tree for PTPRB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRB: view image
Alliance of Genome Resources:
Additional Orthologs for PTPRB

Paralogs for PTPRB Gene

(26) SIMAP similar genes for PTPRB Gene using alignment to 9 proteins:

  • PTPRB_HUMAN
  • B7ZKS8_HUMAN
  • F5H3G6_HUMAN
  • F8VSD5_HUMAN
  • F8VU56_HUMAN
  • H0YHE8_HUMAN
  • J3QT52_HUMAN
  • Q6ZR19_HUMAN
  • Q86VA4_HUMAN
genes like me logo Genes that share paralogs with PTPRB: view

Variants for PTPRB Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs139698072 Benign: not provided 70,569,885(-) G/A
NM_001109754.4(PTPRB):c.3424C>T (p.Leu1142=)
SYNONYMOUS
rs17108335 Benign: not provided 70,555,206(-) G/C
NM_001109754.4(PTPRB):c.5097C>G (p.Thr1699=)
SYNONYMOUS
rs74349667 Benign: not provided 70,571,022(-) T/C
NM_001109754.4(PTPRB):c.3370+4A>G
INTRON
rs77630153 Benign: not provided 70,544,603(-) T/C
NM_001109754.4(PTPRB):c.5448A>G (p.Pro1816=)
SYNONYMOUS
rs17226367 -- p.Gly1934Ala

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

Variant ID Type Subtype PubMed ID
esv32743 CNV gain 17666407
esv3430910 CNV insertion 20981092
nsv509472 CNV insertion 20534489
nsv518144 CNV gain 19592680
nsv820183 CNV loss 19587683
nsv8986 CNV gain+loss 18304495

Variation tolerance for PTPRB Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.17; 97.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRB Gene

Human Gene Mutation Database (HGMD)
PTPRB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRB
Leiden Open Variation Database (LOVD)
PTPRB

SNP Genotyping and Copy Number Assays for research

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

Disorders for PTPRB Gene

MalaCards: The human disease database

(8) MalaCards diseases for PTPRB Gene - From: COP and GCD

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus, type 1
  • gefsp1
skin angiosarcoma
  • angiosarcoma of skin
glial tumor
  • glioma
angiosarcoma
  • hemangiosarcoma
ovarian angiosarcoma
  • hemangiosarcoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search PTPRB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTPRB

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 PTPRB: view

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

Publications for PTPRB Gene

  1. Tyrosine phosphatase beta regulates angiopoietin-Tie2 signaling in human endothelial cells. (PMID: 19116766) Yacyshyn OK … Stewart DJ (Angiogenesis 2009) 3 4 22
  2. Association of PTPRB gene polymorphism with drug addiction. (PMID: 18361428) Ishiguro H … Uhl GR (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 40
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Large-scale structural analysis of the classical human protein tyrosine phosphatome. (PMID: 19167335) Barr AJ … Knapp S (Cell 2009) 3 4

Products for PTPRB Gene

Sources for PTPRB Gene