TPTE (transmembrane phosphatase with tensin homology)

Gene

• Entrez ID: 7179
• Gene name: Transmembrane phosphatase with tensin homology
• Gene symbol: TPTE
• Synonyms (NCBI Gene): CT44, PTEN2, TPTE1
• 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

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
MIRT1450480	hsa-miR-4736	CLIP-seq
MIRT1450481	hsa-miR-4763-3p	CLIP-seq
MIRT1450482	hsa-miR-4803	CLIP-seq
MIRT1450483	hsa-miR-651	CLIP-seq

Gene ontology (GO)

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
GO:0005829	Component	Cytosol	IBA
GO:0006470	Process	Protein dephosphorylation	TAS	10598804
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	10598804
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10598804
GO:0016314	Function	Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: 604336
• HGNC: 12023
• e!Ensembl: ENSG00000274391

Protein

• UniProt ID: 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

Pathways

Reactome:

Synthesis of PIPs at the Golgi membrane

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29219616		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26076356		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26076356	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12865919	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25683705		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34573430	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	18074101		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	18074101		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	26076356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29219616		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16575538, 25446844		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17977648	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	12865919	Associate	★☆☆☆☆ Found in Text Mining only