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  2. TPTE2 - transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 Gene

TPTE2 - transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 Gene

中文名称:跨膜磷酸肌醇 3-磷酸酶和张力蛋白同系物 2

种属: Homo sapiens

同用名: TPIP

基因 ID: 93492 | 基因类型: protein coding

关于 TPTE2

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:19,422,877-19,561,574 (from NCBI)

This gene has 11 transcripts (splice variants), 185 orthologues and 6 paralogues. Restricted expression toward testis (RPKM 4.7).

功能概要

TPIP 是一大类膜相关磷酸酶的成员,对肌醇磷脂的 3 位磷酸盐具有底物特异性。[OMIM 提供,2002 年 7 月]

TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol Phospholipids.[supplied by OMIM, Jul 2002]

TPTE2 基因产物(5)

mRNA Protein Name
NM_001141968.2 NP_001135440.1 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform delta
NM_001271850.2 NP_001258779.1 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform C2
NM_001395978.1 NP_001382907.1 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform gamma
NM_130785.4 NP_570141.3 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform alpha
NM_199254.3 NP_954863.2 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform gamma

TPTE2 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (115 - 205)

DSPc

DSPc: Dual specificity phosphatase, catalytic domain (273 - 364)

PTEN_C2

PTEN_C2: C2 domain of PTEN tumour-suppressor protein (391 - 520)

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  • 522 a.a.
蛋白主名 其他名称

phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2

PTEN-like inositol lipid phosphatase

关联疾病

疾病名称 别名
Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus TPTE2 MGD MGI:2446460
Rattus norvegicus TPTE2 RGD RGD:1305825