Gene Gene information from NCBI Gene database.
Entrez ID 11122
Gene name Protein tyrosine phosphatase receptor type T
Gene symbol PTPRT
Synonyms (NCBI Gene)
R-PTP-TRPTP-rhoRPTPrho
Chromosome 20
Chromosome location 20q12-q13.11
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.
2
SNP ID Visualize variation Clinical significance Consequence
rs762135776 A>G Likely-pathogenic Coding sequence variant, missense variant
rs1060499749 G>A Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
295
miRTarBase ID miRNA Experiments Reference
MIRT017080 hsa-miR-335-5p Microarray 18185580
MIRT051085 hsa-miR-16-5p CLASH 23622248
MIRT047550 hsa-miR-10a-5p CLASH 23622248
MIRT047447 hsa-miR-10b-5p CLASH 23622248
MIRT043524 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IMP 16973135, 17360477
GO:0005001 Function Transmembrane receptor protein tyrosine phosphatase activity IDA 24846175
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608712 9682 ENSG00000196090
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14522
Protein name Receptor-type tyrosine-protein phosphatase T (R-PTP-T) (EC 3.1.3.48) (Receptor-type tyrosine-protein phosphatase rho) (RPTP-rho)
Protein function May be involved in both signal transduction and cellular adhesion in the CNS.
PDB 2OOQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00629 MAM 32 190 MAM domain, meprin/A5/mu Domain
PF00041 fn3 290 374 Fibronectin type III domain Domain
PF00041 fn3 498 578 Fibronectin type III domain Domain
PF18861 PTP_tm 614 772 Transmembrane domain of protein tyrosine phosphatase, receptor type J Family
PF00102 Y_phosphatase 912 1142 Protein-tyrosine phosphatase Domain
PF00102 Y_phosphatase 1202 1436 Protein-tyrosine phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colon, lung, heart and testis, as well as in fetal and adult brain. Not detected in muscle and peripheral blood leukocytes. {ECO:0000269|PubMed:15155950}.
Sequence
MASLAALALSLLLRLQLPPLPGARAQSAAGGCSFDEHYSNCGYSVALGTNGFTWEQINTW
EKPMLDQAVPTGSFMMVNSSGRASGQKAHLLLPTLKENDTHCIDFHYYFSSRDRSSPGAL
NVYVKVNGGPQGNPVWNVSGVVTEGWVKAELAISTFWPHFYQVIFESVSLKGHPGYIAVD
EVRVLAHPCR
KAPHFLRLQNVEVNVGQNATFQCIAGGKWSQHDKLWLQQWNGRDTALMVT
RVVNHRRFSATVSVADTAQRSVSKYRCVIRSDGGSGVSNYAELIVKEPPTPIAPPELLAV
GATYLWIKPNANSIIGDGPIILKEVEYRTTTGTWAETHIVDSPNYKLWHLDPDVEYEIRV
LLTRPGEGGTGPPG
PPLTTRTKCADPVHGPQNVEIVDIRARQLTLQWEPFGYAVTRCHSY
NLTVQYQYVFNQQQYEAEEVIQTSSHYTLRGLRPFMTIRLRLLLSNPEGRMESEELVVQT
EEDVPGAVPLESIQGGPFEEKIYIQWKPPNETNGVITLYEINYKAVGSLDPSADLSSQRG
KVFKLRNETHHLFVGLYPGTTYSFTIKASTAKGFGPPV
TTRIATKISAPSMPEYDTDTPL
NETDTTITVMLKPAQSRGAPVSVYQLVVKEERLQKSRRAADIIECFSVPVSYRNASSLDS
LHYFAAELKPANLPVTQPFTVGDNKTYNGYWNPPLSPLKSYSIYFQALSKANGETKINCV
RLATKGASTQNSNTVEPEKQVDNTVKMAGVIAGLLMFIIILLGVMLTIKRRR
NAYSYSYY
LKLAKKQKETQSGAQREMGPVASADKPTTKLSASRNDEGFSSSSQDVNGFTDGSRGELSQ
PTLTIQTHPYRTCDPVEMSYPRDQFQPAIRVADLLQHITQMKRGQGYGFKEEYEALPEGQ
TASWDTAKEDENRNKNRYGNIISYDHSRVRLLVLDGDPHSDYINANYIDGYHRPRHYIAT
QGPMQETVKDFWRMIWQENSASIVMVTNLVEVGRVKCVRYWPDDTEVYGDIKVTLIETEP
LAEYVIRTFTVQKKGYHEIRELRLFHFTSWPDHGVPCYATGLLGFVRQVKFLNPPEAGPI
VVHCSAGAGRTGCFIAIDTMLDMAENEGVVDIFNCVRELRAQRVNLVQTEEQYVFVHDAI
LE
ACLCGNTAIPVCEFRSLYYNISRLDPQTNSSQIKDEFQTLNIVTPRVRPEDCSIGLLP
RNHDKNRSMDVLPLDRCLPFLISVDGESSNYINAALMDSHKQPAAFVVTQHPLPNTVADF
WRLVFDYNCSSVVMLNEMDTAQFCMQYWPEKTSGCYGPIQVEFVSADIDEDIIHRIFRIC
NMARPQDGYRIVQHLQYIGWPAYRDTPPSKRSLLKVVRRLEKWQEQYDGREGRTVVHCLN
GGGRSGTFCAICSVCEMIQQQNIIDVFHIVKTLRNNKSNMVETLEQYKFVYEVALE
YLSS
F
Sequence length 1441
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
66
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal brain morphology Likely pathogenic rs1060499749, rs762135776 RCV000454175
RCV000454261
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of neuronal migration Uncertain significance rs746059787 RCV000201399
Autism spectrum disorder association rs768757373 RCV001291107
Gastric cancer Benign; Likely benign rs147839711 RCV005902836
Intellectual disability Uncertain significance rs199947379 RCV000077793
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31844068, 38216925
Arthritis Rheumatoid Associate 18668548
Astrocytoma Associate 27586084
Breast Neoplasms Associate 34414233
Carcinogenesis Associate 25967969
Carcinoma Hepatocellular Associate 30551553
Carcinoma Non Small Cell Lung Inhibit 31595832
Carcinoma Non Small Cell Lung Associate 34862763, 35789644
Carcinoma Squamous Cell Associate 28177435
Cholangiocarcinoma Associate 34810298