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 intracytoplasmic cataly... See more...

Aliases for PTPRF Gene

Aliases for PTPRF Gene

  • Protein Tyrosine Phosphatase Receptor Type F 2 3 5
  • Receptor-Type Tyrosine-Protein Phosphatase F 3 4
  • Leukocyte Common Antigen Related 3 4
  • EC 3.1.3.48 4 51
  • LAR 3 4
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide 3
  • Receptor-Linked Protein-Tyrosine Phosphatase LAR 3
  • Leukocyte Antigen-Related Tyrosine Phosphatase 3
  • Leukocyte Antigen-Related (LAR) PTP Receptor 3
  • LCA-Homolog 3
  • BNAH2 3
  • PTPRF 5

External Ids for PTPRF Gene

Previous HGNC Symbols for PTPRF Gene

  • LAR

Previous GeneCards Identifiers for PTPRF Gene

  • GC01P043874
  • GC01P042996
  • GC01P043426
  • GC01P043409
  • GC01P043665
  • GC01P043769
  • GC01P043990
  • GC01P042115

Summaries for PTPRF Gene

Entrez Gene Summary for PTPRF 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 intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

CIViC Summary for PTPRF Gene

GeneCards Summary for PTPRF Gene

PTPRF (Protein Tyrosine Phosphatase Receptor Type F) is a Protein Coding gene. Diseases associated with PTPRF include Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 and Isolated Congenital Breast Hypoplasia/Aplasia. Among its related pathways are SALM protein interactions at the synapses and Cell adhesion_Cadherin-mediated cell adhesion. Gene Ontology (GO) annotations related to this gene include phosphatase activity. An important paralog of this gene is PTPRD.

UniProtKB/Swiss-Prot Summary for PTPRF Gene

  • Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.
  • The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.

Gene Wiki entry for PTPRF Gene

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

Genomics for PTPRF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPRF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PTPRF gene promoter:
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for PTPRF Gene

Genomic Locations for PTPRF Gene
chr1:43,522,238-43,623,672
(GRCh38/hg38)
Size:
101,435 bases
Orientation:
Plus strand
chr1:43,990,858-44,089,343
(GRCh37/hg19)
Size:
98,486 bases
Orientation:
Plus strand

Genomic View for PTPRF Gene

Genes around PTPRF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTPRF Gene

Proteins for PTPRF Gene

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

    Protein Symbol:
    P10586-PTPRF_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase F
    Protein Accession:
    P10586
    Secondary Accessions:
    • D3DPX6
    • D3DPX7
    • Q5T021
    • Q5T022
    • Q5W9G2
    • Q86WS0

    Protein attributes for PTPRF Gene

    Size:
    1907 amino acids
    Molecular mass:
    212879 Da
    Quaternary structure:
    • Interacts with GRIP1 (By similarity). Interacts with PPFIA1, PPFIA2 and PPFIA3. Interacts with INSR.
    SequenceCaution:
    • Sequence=BAD66835.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68754.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTPRF Gene

    Alternative splice isoforms for PTPRF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRF Gene

Selected DME Specific Peptides for PTPRF Gene

P10586:
  • DPVEMRR
  • LREFKVTDARDG
  • QVFAKNF
  • ERLKAND
  • QVKTQQGVPAQP
  • LPCNKFKNRLVNI
  • GITYSLRVL
  • YIATQGP
  • EMGREKC
  • GFYNRPLSPDLSYQCFVLASLKEP
  • PNTEYSF
  • LWVTGPVLAVILI
  • PPVLAERNG
  • VMLTKLRE
  • MVQTEDQY
  • LEKWTEY
  • VLRIQPLR
  • NYTCVAISSLGMIEATAQV
  • VGPGPESSPV
  • IAYDHSRV
  • GRNVLEL
  • AHTDVGP
  • PMPYVKWM
  • VPFKILYN
  • VVHCSAG
  • KHEKTVDIYGHVT
  • VHCSAGVGRTG
  • PGQQFTW
  • LVRWFYI
  • TTGAVPG
  • SGGVASFVCQA
  • DYINASF
  • GVFITLSIVLERM
  • VTETTATSVTLTWDSGN
  • TRYSIGGLSP
  • MKTSVLL
  • PIIQDVMLAEAQ
  • RTATMLCAA
  • PRFSIPP
  • DYINANY
  • VMMTRLEE
  • PANLYVR
  • SPSIQSRTM
  • KCHQYWP
  • AEYNMPQY
  • WPDHGVP
  • LSWEVPD
  • GEGFIDFIGQVHKTKEQFGQ
  • ATVVMMT
  • ANLPCNK
  • RLENGEPRG
  • QHGQIRGYQV
  • DFWRMVW
  • DGVATTRYS
  • ETTISGLTPETTYS
  • YELVYWAAEDE
  • IVIAILLFKRKR
  • KCDQYWP
  • MLERMKHEK
  • GLKPDTTYDIKVRA
  • VKALPKPP
  • GRTGCFI
  • RTGEQAP
  • VRRVAPRFSI
  • IDMGPQLKVVE
  • VSIRTAPDL
  • DQGKYEC
  • GNPDPEI
  • DWPEQGVPK
  • VNIMPYE
  • SKAHTSRF
  • EDVPSGPPRKVEVE
  • LPETFTLGD
  • SPYSDEIVVQVTPAQQQEEPE
  • VQARMLSASTMLVQWEPPEEPNG
  • RQFQFTDWPEQG
  • QRFEVIEFDDG
  • NGRIKQLRS
  • GYRVYYT
  • RDEAIYEC

Post-translational modifications for PTPRF Gene

  • Glycosylation at Asn117, Asn250, Asn295, Asn721, and Asn966
  • Ubiquitination at Lys1303
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTPRF_HUMAN (1708)

Domains & Families for PTPRF Gene

Gene Families for PTPRF Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PTPRF Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
  • Fibronectin type III repeat signature
  • Protein tyrosine phosphatase signature
ProtoNet:

Suggested Antigen Peptide Sequences for PTPRF Gene

GenScript: Design optimal peptide antigens:
  • Leukocyte common antigen related (PTPRF_HUMAN)
  • LAR splice variant 1 (Q5W9G3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10586

UniProtKB/Swiss-Prot:

PTPRF_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 PTPRF: view

Function for PTPRF Gene

Molecular function for PTPRF Gene

UniProtKB/Swiss-Prot Function:
Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.
UniProtKB/Swiss-Prot Function:
The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.
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 II,f polypeptide,involved in axon guidance and mammary gland development

Enzyme Numbers (IUBMB) for PTPRF Gene

Phenotypes From GWAS Catalog for PTPRF Gene

Gene Ontology (GO) - Molecular Function for PTPRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,IMP 23358419
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS 8995282
GO:0005515 protein binding IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with PTPRF: view
genes like me logo Genes that share phenotypes with PTPRF: view

Human Phenotype Ontology for PTPRF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPRF Gene

MGI Knock Outs for PTPRF:

Animal Model Products

CRISPR Products

miRNA for PTPRF Gene

miRTarBase miRNAs that target PTPRF

Inhibitory RNA Products

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

No data available for Transcription Factor Targets and HOMER Transcription for PTPRF Gene

Localization for PTPRF Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRF 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 PTPRF gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
mitochondrion 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2972792
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with PTPRF: view

Pathways & Interactions for PTPRF Gene

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

Pathways by source for PTPRF Gene

1 GeneGo (Thomson Reuters) pathway for PTPRF Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
1 Qiagen pathway for PTPRF Gene
  • Epithelial Adherens Junctions
1 Cell Signaling Technology pathway for PTPRF Gene

SIGNOR curated interactions for PTPRF Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for PTPRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA,IBA 21873635
GO:0007155 cell adhesion TAS 7665159
GO:0007185 transmembrane receptor protein tyrosine phosphatase signaling pathway TAS 8995282
GO:0010975 regulation of neuron projection development IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PTPRF: view

Drugs & Compounds for PTPRF Gene

(6) Drugs for PTPRF 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

(4) Additional Compounds for PTPRF Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PTPRF: view

Transcripts for PTPRF Gene

mRNA/cDNA for PTPRF Gene

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

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ·
SP1: - -
SP2:
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9: - -
SP10: - -
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 16c ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30a · 30b · 30c ^ 31a · 31b ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14: -
SP15: -
SP16:
SP17: -
SP18:
SP19:

ExUns: 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for PTPRF Gene

GeneLoc Exon Structure for
PTPRF

Expression for PTPRF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPRF Gene

This gene is overexpressed in Serum (34.9).

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



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

SOURCE GeneReport for Unigene cluster for PTPRF Gene:

Hs.272062

Evidence on tissue expression from TISSUES for PTPRF Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Bone marrow(4.2)
  • Intestine(3.9)
  • Lung(3.8)
  • Eye(3.3)
  • Skin(3.2)
  • Kidney(2.7)
  • Stomach(2.2)
  • Blood(2.2)
  • Muscle(2.2)
  • Pancreas(2.2)
  • Thyroid gland(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRF Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • skeleton
Regions:
Head and neck:
  • ear
  • face
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • breast
General:
  • skin
genes like me logo Genes that share expression patterns with PTPRF: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PTPRF Gene

Orthologs for PTPRF Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTPRF 30 31
  • 99.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRF 30 31
  • 91.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPRF 30 31
  • 91.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptprf 30
  • 89.36 (n)
Mouse
(Mus musculus)
Mammalia Ptprf 30 17 31
  • 89.02 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTPRF 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTPRF 30 31
  • 78.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTPRF 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptprf 30
  • 72.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia XPTP-LAR 30
Zebrafish
(Danio rerio)
Actinopterygii ptprfa 31
  • 76 (a)
OneToMany
ptprfb 30 31
  • 72.67 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Lar 31 32
  • 47 (a)
OneToMany
Ptp52F 32
  • 42 (a)
Ptp69D 32
  • 34 (a)
Worm
(Caenorhabditis elegans)
Secernentea F47B3.7 32
  • 36 (a)
Y48G9A.9 32
  • 36 (a)
F55F8.7 32
  • 35 (a)
F25H5.7 32
  • 35 (a)
K04D7.4 32
  • 33 (a)
T22C1.8 32
  • 32 (a)
C17H12.3 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1998 31
  • 45 (a)
OneToMany
Species where no ortholog for PTPRF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 PTPRF Gene

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

Paralogs for PTPRF Gene

(39) SIMAP similar genes for PTPRF Gene using alignment to 8 proteins:

  • PTPRF_HUMAN
  • A2A437_HUMAN
  • F2Z3B8_HUMAN
  • G1UI20_HUMAN
  • H0Y380_HUMAN
  • H0Y4H1_HUMAN
  • H0Y6Z7_HUMAN
  • H0Y7Z9_HUMAN
genes like me logo Genes that share paralogs with PTPRF: view

Variants for PTPRF Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638423 Uncertain Significance: not specified 43,619,473(+) G/T MISSENSE_VARIANT
708301 Benign: not provided 43,609,401(+) G/A SYNONYMOUS_VARIANT
719066 Benign: not provided 43,591,135(+) C/T SYNONYMOUS_VARIANT
719243 Benign: not provided 43,553,642(+) G/A INTRON_VARIANT
721559 Likely Benign: not provided 43,591,927(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PTPRF Gene

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

Variant ID Type Subtype PubMed ID
dgv157n100 CNV gain 25217958
dgv158n100 CNV gain 25217958
dgv77n106 CNV deletion 24896259
dgv78n106 OTHER inversion 24896259
dgv82e59 CNV duplication 20981092
esv2600447 OTHER inversion 19546169
esv2659684 CNV deletion 23128226
esv2678218 CNV deletion 23128226
esv3326720 OTHER inversion 20981092
esv3364493 CNV duplication 20981092
esv3439174 OTHER inversion 20981092
esv3445133 CNV duplication 20981092
esv3585869 CNV loss 21293372
esv3585870 OTHER inversion 21293372
esv7506 OTHER inversion 19470904
nsv1077759 OTHER inversion 25765185
nsv1078379 CNV deletion 25765185
nsv1137756 CNV deletion 24896259
nsv513636 OTHER inversion 21212237
nsv519570 CNV loss 19592680
nsv822487 CNV loss 20364138

Variation tolerance for PTPRF Gene

Residual Variation Intolerance Score: 0.343% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PTPRF Gene

MalaCards: The human disease database

(8) MalaCards diseases for PTPRF Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PTPRF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTPRF_HUMAN
  • Aplasia or hypoplasia of the breasts and/or nipples 2 (BNAH2) [MIM:616001]: A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). {ECO:0000269 PubMed:24781087}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTPRF

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

No data available for Genatlas for PTPRF Gene

Publications for PTPRF Gene

  1. Functional association between the insulin receptor and the transmembrane protein-tyrosine phosphatase LAR in intact cells. (PMID: 8995282) Ahmad F … Goldstein BJ (The Journal of biological chemistry 1997) 3 4 23
  2. Distinct functional roles of the two intracellular phosphatase like domains of the receptor-linked protein tyrosine phosphatases LCA and LAR. (PMID: 1695146) Streuli M … Saito H (The EMBO journal 1990) 3 4 23
  3. Homozygous truncating PTPRF mutation causes athelia. (PMID: 24781087) Borck G … Basel-Vanagaite L (Human genetics 2014) 3 4
  4. Receptor protein tyrosine phosphatase-receptor tyrosine kinase substrate screen identifies EphA2 as a target for LAR in cell migration. (PMID: 23358419) Lee H … Bennett AM (Molecular and cellular biology 2013) 3 4
  5. Trans-synaptic adhesions between netrin-G ligand-3 (NGL-3) and receptor tyrosine phosphatases LAR, protein-tyrosine phosphatase delta (PTPdelta), and PTPsigma via specific domains regulate excitatory synapse formation. (PMID: 20139422) Kwon SK … Kim E (The Journal of biological chemistry 2010) 3 23

Products for PTPRF Gene

  • Addgene plasmids for PTPRF
  • Signalway ELISA kits for PTPRF
  • Signalway Proteins for PTPRF

Sources for PTPRF Gene