1. Gene
  2. GDAP2 - ganglioside induced differentiation associated protein 2 Gene

GDAP2 - ganglioside induced differentiation associated protein 2 Gene

中文名称:神经节苷脂诱导分化相关蛋白 2

种属: Homo sapiens

同用名: SCAR27; MACROD3

基因 ID: 54834 | 基因类型: protein coding

关于 GDAP2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:117,863,485-117,929,621 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 1.6), thyroid (RPKM 1.3) and 25 other tissues.

功能概要

预测作用于视黄酸的上游或响应之内。位于溶酶体膜。涉及常染色体隐性遗传性脊髓小脑性共济失调 27。[由基因组资源联盟提供,2022 年 4 月]

Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of Genome Resources, Apr 2022]

GDAP2 基因产物(2)

mRNA Protein Name
NM_001135589.3 NP_001129061.1 ganglioside-induced differentiation-associated protein 2 isoform b
NM_017686.4 NP_060156.1 ganglioside-induced differentiation-associated protein 2 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

GDAP2 蛋白结构

Macro

Macro: Macro domain (72 - 185)

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (340 - 481)

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

ganglioside-induced differentiation-associated protein 2

GDAP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
GDAP2 Q9NXN4 CEP76 Homo sapiens Q8TAP6 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27

Autosomal Recessive Spinocerebellar Ataxia 27

Spinocerebellar Ataxia, Autosomal Recessive, 27

Spinocerebellar Ataxia 27

Spinocerebellar Ataxia Type 27

SCA27

Cerebellar Ataxia Autosomal Dominant Fgf14-Related

Vestibulocerebellar Disorder With Predominant Ocular Signs

Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related

Nystagmus 4, Congenital, Autosomal Dominant, Formerly

Nys4, Formerly

Ataxia, Spinocerebellar, Type 27

Septic Myocarditis
Toxic Myocarditis
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
Canis familiaris GDAP2 VGNC VGNC:41157
Felis catus GDAP2 VGNC VGNC:62500
Bos taurus GDAP2 VGNC VGNC:29297
Rattus norvegicus GDAP2 RGD RGD:1306050
Macaca mulatta GDAP2 VGNC VGNC:99958
Mus musculus GDAP2 MGD MGI:1338001
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