Gene Gene information from NCBI Gene database.
Entrez ID 5792
Gene name Protein tyrosine phosphatase receptor type F
Gene symbol PTPRF
Synonyms (NCBI Gene)
BNAH2LAR
Chromosome 1
Chromosome location 1p34.2
Summary 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 tran
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1131692054 TG>- Pathogenic Intron variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
480
miRTarBase ID miRNA Experiments Reference
MIRT001340 hsa-miR-1-3p pSILAC 18668040
MIRT001340 hsa-miR-1-3p Proteomics;Other 18668040
MIRT035527 hsa-miR-24-3p Luciferase reporter assay 23418360
MIRT035527 hsa-miR-24-3p Luciferase reporter assay 23418360
MIRT046964 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IDA 21976490
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IDA 10338209
GO:0004725 Function Protein tyrosine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179590 9670 ENSG00000142949
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10586
Protein name Receptor-type tyrosine-protein phosphatase F (EC 3.1.3.48) (Leukocyte common antigen related) (LAR)
Protein function 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 t
PDB 1LAR , 2DJU , 2DN7 , 2EDX , 2EDY , 2YD5 , 2YD8 , 4N5U , 6KR4 , 6TPT , 6TPU , 6TPV , 6TPW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 33 124 Immunoglobulin I-set domain Domain
PF07679 I-set 135 225 Immunoglobulin I-set domain Domain
PF07679 I-set 232 315 Immunoglobulin I-set domain Domain
PF00041 fn3 320 401 Fibronectin type III domain Domain
PF00041 fn3 415 500 Fibronectin type III domain Domain
PF00041 fn3 513 594 Fibronectin type III domain Domain
PF00041 fn3 608 696 Fibronectin type III domain Domain
PF00041 fn3 710 809 Fibronectin type III domain Domain
PF00041 fn3 823 903 Fibronectin type III domain Domain
PF00041 fn3 917 1000 Fibronectin type III domain Domain
PF00102 Y_phosphatase 1375 1606 Protein-tyrosine phosphatase Domain
PF00102 Y_phosphatase 1664 1897 Protein-tyrosine phosphatase Domain
Sequence
MAPEPAPGRTMVPLVPALVMLGLVAGAHGDSKPVFIKVPEDQTGLSGGVASFVCQATGEP
KPRITWMKKGKKVSSQRFEVIEFDDGAGSVLRIQPLRVQRDEAIYECTATNSLGEINTSA
KLSV
LEEEQLPPGFPSIDMGPQLKVVEKARTATMLCAAGGNPDPEISWFKDFLPVDPATS
NGRIKQLRSGALQIESSEESDQGKYECVATNSAGTRYSAPANLYV
RVRRVAPRFSIPPSS
QEVMPGGSVNLTCVAVGAPMPYVKWMMGAEELTKEDEMPVGRNVLELSNVVRSANYTCVA
ISSLGMIEATAQVTV
KALPKPPIDLVVTETTATSVTLTWDSGNSEPVTYYGIQYRAAGTE
GPFQEVDGVATTRYSIGGLSPFSEYAFRVLAVNSIGRGPPS
EAVRARTGEQAPSSPPRRV
QARMLSASTMLVQWEPPEEPNGLVRGYRVYYTPDSRRPPNAWHKHNTDAGLLTTVGSLLP
GITYSLRVLAFTAVGDGPPS
PTIQVKTQQGVPAQPADFQAEVESDTRIQLSWLLPPQERI
IMYELVYWAAEDEDQQHKVTFDPTSSYTLEDLKPDTLYRFQLAARSDMGVGVFT
PTIEAR
TAQSTPSAPPQKVMCVSMGSTTVRVSWVPPPADSRNGVITQYSVAYEAVDGEDRGRHVVD
GISREHSSWDLVGLEKWTEYRVWVRAHTDVGPGPES
SPVLVRTDEDVPSGPPRKVEVEPL
NSTAVHVYWKLPVPSKQHGQIRGYQVTYVRLENGEPRGLPIIQDVMLAEAQWRPEESEDY
ETTISGLTPETTYSVTVAAYTTKGDGARS
KPKIVTTTGAVPGRPTMMISTTAMNTALLQW
HPPKELPGELLGYRLQYCRADEARPNTIDFGKDDQHFTVTGLHKGTTYIFRLAAKNRAGL
GEE
FEKEIRTPEDLPSGFPQNLHVTGLTTSTTELAWDPPVLAERNGRIISYTVVFRDINS
QQELQNITTDTRFTLTGLKPDTTYDIKVRAWTSKGSGPLS
PSIQSRTMPVEQVFAKNFRV
AAAMKTSVLLSWEVPDSYKSAVPFKILYNGQSVEVDGHSMRKLIADLQPNTEYSFVLMNR
GSSAGGLQHLVSIRTAPDLLPHKPLPASAYIEDGRFDLSMPHVQDPSLVRWFYIVVVPID
RVGGSMLTPRWSTPEELELDELLEAIEQGGEEQRRRRRQAERLKPYVAAQLDVLPETFTL
GDKKNYRGFYNRPLSPDLSYQCFVLASLKEPMDQKRYASSPYSDEIVVQVTPAQQQEEPE
MLWVTGPVLAVILIILIVIAILLFKRKRTHSPSSKDEQSIGLKDSLLAHSSDPVEMRRLN
YQTPGMRDHPPIPITDLADNIERLKANDGLKFSQEYESIDPGQQFTWENSNLEVNKPKNR
YANVIAYDHSRVILTSIDGVPGSDYINANYIDGYRKQNAYIATQGPLPETMGDFWRMVWE
QRTATVVMMTRLEEKSRVKCDQYWPARGTETCGLIQVTLLDTVELATYTVRTFALHKSGS
SEKRELRQFQFMAWPDHGVPEYPTPILAFLRRVKACNPLDAGPMVVHCSAGVGRTGCFIV
IDAMLERMKHEKTVDIYGHVTCMRSQRNYMVQTEDQYVFIHEALLE
AATCGHTEVPARNL
YAHIQKLGQVPPGESVTAMELEFKLLASSKAHTSRFISANLPCNKFKNRLVNIMPYELTR
VCLQPIRGVEGSDYINASFLDGYRQQKAYIATQGPLAESTEDFWRMLWEHNSTIIVMLTK
LREMGREKCHQYWPAERSARYQYFVVDPMAEYNMPQYILREFKVTDARDGQSRTIRQFQF
TDWPEQGVPKTGEGFIDFIGQVHKTKEQFGQDGPITVHCSAGVGRTGVFITLSIVLERMR
YEGVVDMFQTVKTLRTQRPAMVQTEDQYQLCYRAALE
YLGSFDHYAT
Sequence length 1907
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Breasts and/or nipples, aplasia or hypoplasia of, 2 Pathogenic rs1131692054 RCV000144043
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs144175107 RCV005906116
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs774549273 RCV004557908
Gastric cancer Likely benign rs17849118 RCV005902958
Malignant tumor of esophagus Benign rs144175107 RCV005906115
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 32929364
Brain Diseases Associate 37446291
Breast Neoplasms Associate 19004008, 26336805
Carcinoma Hepatocellular Associate 12679910, 34969357
Carcinoma Non Small Cell Lung Associate 26291013
Endometrial Neoplasms Associate 37737665
Gallbladder Neoplasms Associate 35035811
Insulin Resistance Associate 23861770
Lung Neoplasms Associate 25638566
Melanoma Associate 35606887