Gene Gene information from NCBI Gene database.
Entrez ID 5784
Gene name Protein tyrosine phosphatase non-receptor type 14
Gene symbol PTPN14
Synonyms (NCBI Gene)
CATLPHPEZPTP36PTPD2
Chromosome 1
Chromosome location 1q32.3-q41
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
rs1558092113 ->AA Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
1645
miRTarBase ID miRNA Experiments Reference
MIRT018677 hsa-miR-335-5p Microarray 18185580
MIRT030954 hsa-miR-21-5p Microarray 20048743
MIRT042932 hsa-miR-324-3p CLASH 23622248
MIRT700519 hsa-miR-33a-3p HITS-CLIP 23313552
MIRT271178 hsa-miR-4491 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001946 Process Lymphangiogenesis IBA
GO:0001946 Process Lymphangiogenesis IEA
GO:0001946 Process Lymphangiogenesis IMP 20826270
GO:0003712 Function Transcription coregulator activity IMP 22525271
GO:0004721 Function Phosphoprotein phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603155 9647 ENSG00000152104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15678
Protein name Tyrosine-protein phosphatase non-receptor type 14 (EC 3.1.3.48) (Protein-tyrosine phosphatase pez)
Protein function Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchym
PDB 2BZL , 6IWD , 6JJW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 25 88 FERM N-terminal domain Domain
PF00373 FERM_M 105 220 FERM central domain Domain
PF09380 FERM_C 224 309 FERM C-terminal PH-like domain Domain
PF00102 Y_phosphatase 933 1179 Protein-tyrosine phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MPFGLKLRRTRRYNVLSKNCFVTRIRLLDSNVIECTLSVESTGQECLEAVAQRLELRETH
YFGLWFLSKSQQARWVELEKPLKKHLDK
FANEPLLFFGVMFYVPNVSWLQQEATRYQYYL
QVKKDVLEGRLRCTLDQVIRLAGLAVQADFGDYNQFDSQDFLREYVLFPMDLALEEAVLE
ELTQKVAQEHKAHSGILPAEAELMYINEVERLDGFGQEIF
PVKDNHGNCVHLGIFFMGIF
VRNRIGRQAVIYRWNDMGNITHNKSTILVELINKEETALFHTDDIENAKYISRLFATRHK
FYKQNKICT
EQSNSPPPIRRQPTWSRSSLPRQQPYILPPVHVQCGEHYSETHTSQDSIFH
GNEEALYCNSHNSLDLNYLNGTVTNGSVCSVHSVNSLNCSQSFIQASPVSSNLSIPGSDI
MRADYIPSHRHSAIIVPSYRPTPDYETVMRQMKRGILHTDSQSQSLRNLNIINTHAYNQP
EDLVYSQPEMRERHPYTVPYGPQGVYSNKLVSPSDQRNPKNNVVPSKPGASAISHTVSTP
ELANMQLQGSHNYSTAHMLKNYLFRPPPPYPRPRPATSTPDLASHRHKYVSGSSPDLVTR
KVQLSVKTFQEDSSPVVHQSLQEVSEPLTATKHHGTVNKRHSLEVMNSMVRGMEAMTLKS
LHLPMARRNTLREQGPPEEGSGSHEVPQLPQYHHKKTFSDATMLIHSSESEEEEEEAPES
VPQIPMLREKMEYSAQLQAALARIPNKPPPEYPGPRKSVSNGALRQDQASLPPAMARARV
LRHGPAKAISMSRTDPPAVNGASLGPSISEPDLTSVKERVKKEPVKERPVSEMFSLEDSI
IEREMMIRNLEKQKMAGLEAQKRPLMLAALNGLSVARVSGREENRVDATRVPMDERFRTL
KKKLEEGMVFTEYEQIPKKKANGIFSTAALPENAERSRIREVVPYEENRVELIPTKENNT
GYINASHIKVVVGGAEWHYIATQGPLPHTCHDFWQMVWEQGVNVIAMVTAEEEGGRTKSH
RYWPKLGSKHSSATYGKFKVTTKFRTDSVCYATTGLKVKHLLSGQERTVWHLQYTDWPDH
GCPEDVQGFLSYLEEIQSVRRHTNSMLEGTKNRHPPIVVHCSAGVGRTGVLILSELMIYC
LEHNEKVEVPMMLRLLREQRMFMIQTIAQYKFVYQVLIQ
FLQNSRLI
Sequence length 1187
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Interleukin-37 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
43
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Esophageal atresia/tracheoesophageal fistula Likely pathogenic rs774735121 RCV001172300
Lymphedema-posterior choanal atresia syndrome Pathogenic rs1558092113 RCV000735851
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs139248712 RCV005926859
Clear cell carcinoma of kidney Benign rs17022856 RCV005906137
Gastric cancer Benign rs79633153 RCV005906135
Lung cancer Benign rs17022856 RCV005906138
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arteriovenous Malformations Associate 29932521
Breast Neoplasms Associate 27485598, 30561551
Carcinogenesis Associate 31323018, 33431714
Carcinoma Renal Cell Associate 35718636
Colorectal Neoplasms Associate 28031238, 30537927
Esophageal Neoplasms Associate 34712552
Glioma Associate 30559405
Intracranial Hemorrhages Associate 29932521
Linitis Plastica Associate 36450891
Neoplasm Metastasis Associate 28485805, 31793993