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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Breasts and/or nipples, aplasia or hypoplasia of, 2 Pathogenic rs1131692054 RCV000144043
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 12638720, 19169483, 25008035, 28012070, 30851160, 31147054, 31520541, 31613969
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30464527
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 31167164
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10657947, 1486801
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 32929364 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17500057
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17500057
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 30478444, 30610198
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 29348579
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 37446291 Associate
★☆☆☆☆
Found in Text Mining only