2. Gene
  3. GFRA4 - GDNF family receptor alpha 4 Gene

GFRA4 - GDNF family receptor alpha 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GDNF 家族受体 alpha 4

种属: Homo sapiens

基因 ID: 64096 | 基因类型: protein coding

关于 GFRA4

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,659,248-3,663,399 (from NCBI)

This gene has 3 transcripts (splice variants), 260 orthologues and 4 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是 GDNF 受体家族的成员。它是 persephin 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。该基因是 RET 相关疾病的候选基因。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the GDNF Receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GFRA4 基因产物(2)

mRNA Protein Name
NM_022139.4 NP_071422.1 GDNF family receptor alpha-4 isoform a precursor
NM_145762.3 NP_665705.1 GDNF family receptor alpha-4 isoform b precursor
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
11116144 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
11116144 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
11116144 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

GFRA4 蛋白结构

GDNF

GDNF: GDNF/GAS1 domain (26 - 105)

GDNF

GDNF: GDNF/GAS1 domain (117 - 241)

  • 0
  • 100
  • 200
  • 299 a.a.
蛋白主名 其他名称

GDNF family receptor alpha-4

GDNF receptor alpha-4

关联疾病

疾病名称 别名
Multiple Endocrine Neoplasia

Men

Multiple Endocrine Adenomatosis

Multiple Endocrine Neoplasia Syndrome

Adenomatosis, Familial Endocrine

Endocrine Neoplasia, Multiple

Familial Endocrine Adenomatosis

Mea

Multiple Endocrine Neoplasms

Multiple Endocrine Neoplasia Type 1
Spinocerebellar Ataxia 23

Spinocerebellar Ataxia Type 23

SCA23

Ataxia, Spinocerebellar, Type 23
Megacolon

Dilatation Of Colon
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05389 GFRA4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GFRA4 RGD RGD:620503
Canis familiaris GFRA4 VGNC VGNC:49680
Mus musculus GFRA4 MGD MGI:1341873
Felis catus GFRA4 VGNC VGNC:109566
Macaca mulatta GFRA4 VGNC VGNC:84886
Bos taurus GFRA4 VGNC VGNC:56187
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