Gene Gene information from NCBI Gene database.
Entrez ID 5795
Gene name Protein tyrosine phosphatase receptor type J
Gene symbol PTPRJ
Synonyms (NCBI Gene)
CD148DEP1HPTP etaHPTPetaR-PTP-ETAR-PTP-JSCC1THC10
Chromosome 11
Chromosome location 11p11.2
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 tra
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1566734 A>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs121434507 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
587
miRTarBase ID miRNA Experiments Reference
MIRT001514 hsa-miR-155-5p pSILAC 18668040
MIRT006477 hsa-miR-328-3p qRT-PCRWestern blot 22564856
MIRT006477 hsa-miR-328-3p qRT-PCRWestern blot 22564856
MIRT006477 hsa-miR-328-3p qRT-PCRWestern blot 22564856
MIRT006477 hsa-miR-328-3p qRT-PCRWestern blot 22564856
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
93
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001772 Component Immunological synapse IDA 12913111
GO:0001772 Component Immunological synapse IEA
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600925 9673 ENSG00000149177
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12913
Protein name Receptor-type tyrosine-protein phosphatase eta (Protein-tyrosine phosphatase eta) (R-PTP-eta) (EC 3.1.3.48) (Density-enhanced phosphatase 1) (DEP-1) (HPTP eta) (Protein-tyrosine phosphatase receptor type J) (R-PTP-J) (CD antigen CD148)
Protein function Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2 (PubMed:10821867, PubMed:12062403, PubMed:12370829, PubMed:1247597
PDB 2CFV , 2DLE , 2NZ6 , 7U01 , 7U08
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00041 fn3 120 199 Fibronectin type III domain Domain
PF00041 fn3 368 445 Fibronectin type III domain Domain
PF18861 PTP_tm 835 1000 Transmembrane domain of protein tyrosine phosphatase, receptor type J Family
PF00102 Y_phosphatase 1065 1297 Protein-tyrosine phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the promyelocytic cell line HL-60, the granulocyte-macrophage colony-stimulating factor-dependent leukemic cell line F-36P, and the IL3 and erythropoietin-dependent leukemic cell line F-36E. Expressed predominantly in epit
Sequence
MKPAAREARLPPRSPGLRWALPLLLLLLRLGQILCAGGTPSPIPDPSVATVATGENGITQ
ISSTAESFHKQNGTGTPQVETNTSEDGESSGANDSLRTPEQGSNGTDGASQKTPSSTGPS
PVFDIKAVSISPTNVILTWKSNDTAASEYKYVVKHKMENEKTITVVHQPWCNITGLRPAT
SYVFSITPGIGNETWGDPR
VIKVITEPIPVSDLRVALTGVRKAALSWSNGNGTASCRVLL
ESIGSHEELTQDSRLQVNISGLKPGVQYNINPYLLQSNKTKGDPLGTEGGLDASNTERSR
AGSPTAPVHDESLVGPVDPSSGQQSRDTEVLLVGLEPGTRYNATVYSQAANGTEGQPQAI
EFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAV
IPGLRSSTFYNITVCPVLGDIEGTP
GFLQVHTPPVPVSDFRVTVVSTTEIGLAWSSHDAE
SFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPNGTEGASRTVCNRTVP
SAVFDIHVVYVTTTEMWLDWKSPDGASEYVYHLVIESKHGSNHTSTYDKAITLQGLIPGT
LYNITISPEVDHVWGDPNSTAQYTRPSNVSNIDVSTNTTAATLSWQNFDDASPTYSYCLL
IEKAGNSSNATQVVTDIGITDATVTELIPGSSYTVEIFAQVGDGIKSLEPGRKSFCTDPA
SMASFDCEVVPKEPALVLKWTCPPGANAGFELEVSSGAWNNATHLESCSSENGTEYRTEV
TYLNFSTSYNISITTVSCGKMAAPTRNTCTTGITDPPPPDGSPNITSVSHNSVKVKFSGF
EASHGPIKAYAVILTTGEAGHPSADVLKYTYEDFKKGASDTYVTYLIRTEEKGRSQSLSE
VLKYEIDVGNESTTLGYYNGKLEPLGSYRACVAGFTNITFHPQNKGLIDGAESYVSFSRY
SDAVSLPQDPGVICGAVFGCIFGALVIVTVGGFIFWRKKR
KDAKNNEVSFSQIKPKKSKL
IRVENFEAYFKKQQADSNCGFAEEYEDLKLVGISQPKYAAELAENRGKNRYNNVLPYDIS
RVKLSVQTHSTDDYINANYMPGYHSKKDFIATQGPLPNTLKDFWRMVWEKNVYAIIMLTK
CVEQGRTKCEEYWPSKQAQDYGDITVAMTSEIVLPEWTIRDFTVKNIQTSESHPLRQFHF
TSWPDHGVPDTTDLLINFRYLVRDYMKQSPPESPILVHCSAGVGRTGTFIAIDRLIYQIE
NENTVDVYGIVYDLRMHRPLMVQTEDQYVFLNQCVLD
IVRSQKDSKVDLIYQNTTAMTIY
ENLAPVTTFGKTNGYIA
Sequence length 1337
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
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
Carcinoma of colon Pathogenic rs121434507 RCV000009226
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 10 Pathogenic rs758226104, rs2495194878 RCV003324883
RCV003324884
★★★★☆
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION 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
Adenocarcinoma Adenocarcinoma BEFREE 30275185
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12776199, 15378013
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 12685844
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 10599888
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 24016860
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 39380119 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 12685844, 23341091, 24885312
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 19246339
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16000320, 18843023, 25772245, 28316102, 8797598
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12475979, 9115287 Associate
★☆☆☆☆
Found in Text Mining only