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Aliases for PTPRB Gene

Aliases for PTPRB Gene

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

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 Hyperkalemic Periodic Paralysis and Familial Periodic Paralysis. Among its related pathways are TNFR1 Pathway and Adherens junction. 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 PTPRQ.

UniProtKB/Swiss-Prot 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

Additional gene information for PTPRB Gene

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

Genomics for PTPRB Gene

GeneHancer (GH) Regulatory Elements for PTPRB Gene

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 665.8 +27.5 27522 1.6 FOXA2 RB1 SIN3A ZNF335 GLIS2 SCRT2 ZNF398 GATAD2B ELF1 MTA1 PTPRB ENSG00000277247
GH12J070637 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.7 0.0 -2 0.1 POLR2A JUN SPI1 PTPRB FAHD2P1
GH12J070638 Enhancer 0.8 ENCODE dbSUPER 650.7 -1.5 -1531 0.5 FOSL1 MEIS2 JUND PKNOX1 POLR2A JUN FOS EP300 PTPRB FAHD2P1 PTPRR
GH12J070639 Enhancer 0.6 Ensembl dbSUPER 650.7 +0.2 239 0.4 POLR2A JUN PTPRB ENSG00000277247
GH12J070660 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -24.1 -24074 2.6 SMAD1 ATF1 ZFP64 POLR2B ZNF766 CBX5 GATA2 ATF7 CAVIN1 NCOA1 CNOT2 PTPRB 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PTPRB Gene

Genomic Locations for PTPRB Gene
chr12:70,515,866-70,637,440
(GRCh38/hg38)
Size:
121,575 bases
Orientation:
Minus strand
chr12:70,910,630-71,031,220
(GRCh37/hg19)
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

Post-translational modifications for PTPRB Gene

  • Glycosylation at posLast=15181518, posLast=14741474, posLast=14701470, Asn1367, Asn1274, Asn1212, Asn1185, Asn1163, posLast=10961096, Asn1040, Asn829, Asn721, Asn652, posLast=598598, posLast=574574, Asn544, posLast=479479, Asn421, posLast=414414, posLast=321321, posLast=267267, Asn198, Asn172, posLast=7575, posLast=5353, and Asn28
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PTPRB Gene

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
  • Predicted secreted proteins

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:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
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 IPI,IEA 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 Model Products

  • Taconic Biosciences Mouse Models for PTPRB

Clone Products

  • Addgene plasmids 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 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

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

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

Pathways by source for PTPRB Gene

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 IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
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) Additional Compounds for PTPRB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PTPRB: view

Transcripts for PTPRB Gene

Unigene Clusters for PTPRB Gene

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

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
PTPRB

Expression for PTPRB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of PTPRB Gene:

PTPRB

SOURCE GeneReport for Unigene cluster for PTPRB Gene:

Hs.434375

Evidence on tissue expression from TISSUES for PTPRB Gene

  • Intestine(4.2)
  • Heart(2.4)
  • Nervous system(2.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with PTPRB: view

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 34 33
  • 98.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PTPRB 34 33
  • 88.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTPRB 34 33
  • 87.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptprb 16 34 33
  • 84.93 (n)
rat
(Rattus norvegicus)
Mammalia Ptprb 33
  • 84.63 (n)
oppossum
(Monodelphis domestica)
Mammalia PTPRB 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPRB 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPRB 34 33
  • 70.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRB 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptprb 33
  • 65.08 (n)
Str.12713 33
zebrafish
(Danio rerio)
Actinopterygii ptprb 34 33
  • 53.46 (n)
OneToOne
Dr.12345 33
fruit fly
(Drosophila melanogaster)
Insecta Ptp10D 34 35 33
  • 44.94 (n)
ManyToMany
Ptp52F 35
  • 40 (a)
Ptp4E 34 35
  • 25 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004246 33
  • 43.17 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48G9A.9 35
  • 34 (a)
ZK354.8 35
  • 34 (a)
B0207.1 35
  • 32 (a)
T27A3.5 35
  • 30 (a)
F47B3.1 35
  • 30 (a)
F47B3.6 35
  • 30 (a)
dep-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.962 34
  • 55 (a)
OneToOne
Cin.5519 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5519 33
Species where no ortholog for PTPRB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

Paralogs for PTPRB Gene

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 from dbSNP and Humsavar for PTPRB Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000029166 -- 70,588,902(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000038120 -- 70,609,538(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000050496 -- 70,526,344(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000101420 -- 70,518,344(-) C/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000104277 -- 70,601,742(-) A/T genic_upstream_transcript_variant, intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PTPRB Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTPRB Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hyperkalemic periodic paralysis
  • hypp
familial periodic paralysis
  • genetic periodic paralysis
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 44 58
  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 44 58
  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 44 58
  5. Large-scale structural analysis of the classical human protein tyrosine phosphatome. (PMID: 19167335) Barr AJ … Knapp S (Cell 2009) 3 4 58

Products for PTPRB Gene

Sources for PTPRB Gene

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