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  2. PTH2R - parathyroid hormone 2 receptor Gene

PTH2R - parathyroid hormone 2 receptor Gene

中文名称:甲状旁腺激素 2 受体

种属: Homo sapiens

同用名: PTHR2

基因 ID: 5746 | 基因类型: protein coding

关于 PTH2R

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:208,359,692-208,494,506 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues and 42 paralogues. Biased expression in bone marrow (RPKM 1.3), salivary gland (RPKM 0.8) and 10 other tissues.

功能概要

该基因编码的蛋白质是 G 蛋白偶联受体 2 家族的成员。这种蛋白质是甲状旁腺激素 (PTH) 的受体。与甲状旁腺激素受体 1 (PTHR1) 相比,该受体在配体识别方面更具选择性,并且具有更特异的组织分布。它仅被 PTH 激活,而不被甲状旁腺激素样激素 (PTHLH) 激活,并且在大脑和胰腺中含量特别丰富。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 1 月]

The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

PTH2R 基因产物(5)

mRNA Protein Name
NM_001309516.2 NP_001296445.1 parathyroid hormone 2 receptor isoform 2
NM_001371905.1 NP_001358834.1 parathyroid hormone 2 receptor isoform 2
NM_001371906.1 NP_001358835.1 parathyroid hormone 2 receptor isoform 2
NM_001371907.1 NP_001358836.1 parathyroid hormone 2 receptor isoform 3
NM_005048.4 NP_005039.1 parathyroid hormone 2 receptor isoform 1 precursor

PTH2R 蛋白结构

HRM

HRM: Hormone receptor domain (62 - 126)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (142 - 409)

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  • 550 a.a.
蛋白主名 其他名称

parathyroid hormone 2 receptor

PTH2 receptor

关联疾病

疾病名称 别名
Syndromic Intellectual Disability
Chondrodysplasia, Blomstrand Type

Chondrodysplasia Blomstrand Type

BOCD

Blomstrand Lethal Chondrodysplasia

Blomstrand Lethal Osteochondrodysplasia

Blomstrand'S Lethal Chondrodysplasia

Blc

Blomstrand Chondrodysplasia

Blomstrand Osteochondrodysplasia

Isolated Growth Hormone Deficiency, Type Ib

Isolated Growth Hormone Deficiency Type Ib

IGHD1B

Ighd Ib

Growth Hormone Deficiency, Isolated, Type Ib

Congenital Ighd Type Ib

Congenital Isolated Gh Deficiency Type Ib

Congenital Isolated Growth Hormone Deficiency Type Ib

Dwarfism Of Sindh

Pituitary Dwarfism I

Isolated Growth Hormone Deficiency Type 1b

Ighd 1b

Growth Hormone Deficiency, Isolated, 1b

Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type

Jansen'S Metaphyseal Chondrodysplasia

MCDJ

Murk Jansen Type Metaphyseal Chondrodysplasia

Jansen Type Metaphyseal Chondrodysplasia

Jansen Disease

Jansen Metaphyseal Chondrodysplasia

Jansen Metaphyseal Dysostosis

Metaphyseal Chondrodysplasia Murk Jansen Type

Chondrodysplasia, Metaphyseal, Murk Jansen Type

Benign Chronic Pemphigus

Hailey-Hailey Disease

Pemphigus, Benign Familial

Familial Benign Pemphigus

Benign Familial Pemphigus

Familial Benign Chronic Pemphigus

BCPM

HHD

Benign Chronic Familial Pemphigus Of Hailey-Hailey

Pemphigus, Chronic, Benign

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
Bos taurus PTH2R VGNC VGNC:33516
Canis familiaris PTH2R VGNC VGNC:45156
Macaca mulatta PTH2R VGNC VGNC:76592
Mus musculus PTH2R MGD MGI:2180917
Rattus norvegicus PTH2R RGD RGD:620612
Felis catus PTH2R VGNC VGNC:69151