TPTE (transmembrane phosphatase with tensin homology)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7179
Gene name Transmembrane phosphatase with tensin homology
Gene symbol TPTE
Synonyms (NCBI Gene)
CT44PTEN2TPTE1
Chromosome 21
Chromosome location 21p11.2
Summary This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Ma
miRNA miRNA information provided by mirtarbase database.
9
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1450475 hsa-miR-1207-5p CLIP-seq
MIRT1450476 hsa-miR-296-3p CLIP-seq
MIRT1450477 hsa-miR-3133 CLIP-seq
MIRT1450478 hsa-miR-3688-5p CLIP-seq
MIRT1450479 hsa-miR-3978 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity TAS 10598804
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604336 12023 ENSG00000274391
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56180
Protein name Putative tyrosine-protein phosphatase TPTE (EC 3.1.3.48) (Cancer/testis antigen 44) (CT44) (Transmembrane phosphatase with tensin homology) (Tumor antigen BJ-HCC-5)
Protein function Could be involved in signal transduction.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00782 DSPc 265 → 385 Dual specificity phosphatase, catalytic domain Domain
PF10409 PTEN_C2 409 → 539 C2 domain of PTEN tumour-suppressor protein Domain
Tissue specificity TISSUE SPECIFICITY: Exclusively expressed in testis. {ECO:0000269|PubMed:10598804}.
Sequence 
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVL
ARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKL
YIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFD
IKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLT
YVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVV
RIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICS
TAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFI
IYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQF
FYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEK
MTSSDVVAGSD
Sequence length 551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Synthesis of PIPs at the Golgi membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs149363218 RCV000172926
Familial cancer of breast Uncertain significance rs766186396 RCV005929022
Macrocephaly Uncertain significance rs149363218 RCV000172926
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 26076356
Carcinoma Hepatocellular Associate 12865919
Carcinoma Non Small Cell Lung Associate 12865919
Colorectal Neoplasms Associate 34573430
Megalencephaly Associate 26076356
Neoplasms Associate 12865919, 34573430
Prostatic Neoplasms Associate 17977648
Testicular Neoplasms Associate 12865919