1. Gene
  2. SCYL2 - SCY1 like pseudokinase 2 Gene

SCYL2 - SCY1 like pseudokinase 2 Gene

中文名称:SCY1 样假激酶 2

种属: Homo sapiens

同用名: AMC4; AMCNACC; CVAK104

基因 ID: 55681 | 基因类型: protein coding

关于 SCYL2

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:100,267,177-100,341,715 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 12.7), esophagus (RPKM 10.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质与质膜上的网格蛋白包被复合物和内吞包被囊泡相关联。编码的蛋白质磷酸化质膜衔接复合物 AP2 的 beta2 亚基并与网格蛋白相互作用,显示参与跨高尔基体网络和内体系统之间的网格蛋白依赖性通路。此外,该蛋白通过靶向 Frizzled 5 (Fzd5) 进行溶酶体降解,在 Wnt 信号通路中发挥作用。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting Frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]

SCYL2 基因产物(5)

mRNA Protein Name
NM_001317784.2 NP_001304713.1 SCY1-like protein 2 isoform 1
NM_001330253.2 NP_001317182.1 SCY1-like protein 2 isoform 2
NM_001330254.2 NP_001317183.1 SCY1-like protein 2 isoform 2
NM_001330256.2 NP_001317185.1 SCY1-like protein 2 isoform 3
NM_017988.6 NP_060458.3 SCY1-like protein 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
19643732 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
19643732 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in clathrin-dependent endocytosis IDA
IDA: 通过直接分析推断
19643732 GOA
involved in endosome to lysosome transport IDA
IDA: 通过直接分析推断
19643732 GOA
acts upstream of negative regulation of canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
19643732 GOA
involved in receptor internalization IDA
IDA: 通过直接分析推断
19643732 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

SCYL2 蛋白结构

Pkinase

Pkinase: Protein kinase domain (34 - 327)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 929 a.a.
蛋白主名 其他名称

SCY1-like protein 2

SCY1-like 2

SCYL2 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
SCYL2 Q6P3W7 FZD5 Homo sapiens Q13467 19643732
种属内
SCYL2 Q6P3W7 DVL1 Homo sapiens O14640 19643732
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
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum

Arthrogryposis Multiplex Congenita, Neurogenic, With Agenesis Of The Corpus Callosum

AMC4

Amcnacc

Zain Syndrome

Arthrogryposis Multiplex Congenita-4

Zain Syndrome

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

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
Macaca mulatta SCYL2 VGNC VGNC:100102
Canis familiaris SCYL2 VGNC VGNC:45939
Bos taurus SCYL2 VGNC VGNC:34375
Mus musculus SCYL2 MGD MGI:1289172
Rattus norvegicus SCYL2 RGD RGD:1305665
Felis catus SCYL2 VGNC VGNC:64941
Others SCYL2 NCBI