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  2. GFRA2 - GDNF family receptor alpha 2 Gene

GFRA2 - GDNF family receptor alpha 2 Gene

中文名称:GDNF 家族受体 alpha 2

种属: Homo sapiens

同用名: NTNRA; RETL2; TRNR2; GDNFRB; NRTNR-ALPHA

基因 ID: 2675 | 基因类型: protein coding

关于 GFRA2

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:21,690,398-21,812,345 (from NCBI)

This gene has 8 transcripts (splice variants), 278 orthologues and 4 paralogues. Broad expression in spleen (RPKM 6.1), thyroid (RPKM 5.3) and 19 other tissues.

功能概要

神经胶质细胞源性神经营养因子 (GDNF) 和神经营养因子 (NTN) 是两种结构相关的强效神经营养因子,在控制神经元存活和分化中起着关键作用。该基因编码的蛋白质是 GDNF 受体家族的成员。它是 GDNF 和 NTN 的糖基磷脂酰肌醇 (GPI) 连接的细胞表面受体,并介导 RET 酪氨酸激酶受体的激活。与其其他家族成员 GDNF 家族受体 alpha 1 相比,这种编码的蛋白质优先充当 NTN 的受体。该基因是 RET 相关疾病的候选基因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

Glial cell line-derived neurotrophic factor (GDNF) and Neurturin (NTN) are two structurally related, potent Neurotrophic Factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF Receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its Other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GFRA2 基因产物(3)

mRNA Protein Name
NM_001165038.2 NP_001158510.1 GDNF family receptor alpha-2 isoform b precursor
NM_001165039.2 NP_001158511.1 GDNF family receptor alpha-2 isoform c precursor
NM_001495.5 NP_001486.4 GDNF family receptor alpha-2 isoform a preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glial cell-derived neurotrophic factor receptor activity IDA
IDA: 通过直接分析推断
29414779 GOA
enables heparan sulfate binding IDA
IDA: 通过直接分析推断
29414779 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glial cell-derived neurotrophic factor receptor signaling pathway IDA
IDA: 通过直接分析推断
29414779 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in plasma membrane IDA
IDA: 通过直接分析推断
9576965 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GFRA2 蛋白结构

GDNF

GDNF: GDNF/GAS1 domain (40 - 113)

GDNF

GDNF: GDNF/GAS1 domain (161 - 241)

GDNF

GDNF: GDNF/GAS1 domain (251 - 347)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 464 a.a.
蛋白主名 其他名称

GDNF family receptor alpha-2

GDNF receptor beta

重组 GFRA2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70192 GFRA2/GDNFR-alpha-2 Protein, Human (HEK293, His) O00451-1 (S22-S441) ≥95%

关联疾病

疾病名称 别名
Bladder Leiomyoma

Leiomyoma Of The Urinary Bladder

Retinal Degeneration

Degeneration Of Retina

Malignant Granular Cell Myoblastoma

Malignant Granular Cell Tumor

Granular Cell Tumor, Malignant

Malignant Granular Cell Neoplasm

Bladder Benign Neoplasm
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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 GFRA2 MGD MGI:1195462
Canis familiaris GFRA2 VGNC VGNC:41190
Bos taurus GFRA2 VGNC VGNC:29333
Felis catus GFRA2 VGNC VGNC:62530
Macaca mulatta GFRA2 VGNC VGNC:72918
Rattus norvegicus GFRA2 RGD RGD:61809
Others GFRA2 NCBI