2. Gene
  3. KLHDC2 - kelch domain containing 2 Gene

KLHDC2 - kelch domain containing 2 Gene

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

中文名称：含 kelch 域 2

种属: Homo sapiens

同用名: LCP; HCLP1; HCLP-1

基因 ID: 23588 | 基因类型: protein coding

关于 KLHDC2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,768,153-49,786,385 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and 10 paralogues. Ubiquitous expression in thyroid (RPKM 22.9), kidney (RPKM 22.5) and 25 other tissues.

功能概要

启用泛素连接酶-底物适配器活动。通过 C 端 degron 规则途径参与泛素依赖性蛋白质分解代谢过程。位于核体和核膜内。在 Cul2-RING 泛素连接酶复合物和细胞核中具有活性。 [由基因组资源联盟提供，2022 年 4 月]

Enables ubiquitin ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nuclear body and nuclear membrane. Is active in Cul2-RING ubiquitin Ligase complex and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

KLHDC2 基因产物(1)

mRNA Protein Name
NM_014315.3 NP_055130.1 kelch domain-containing protein 2
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 protein binding IPI
IPI: 通过物理相互作用推断
25036637 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
26138980 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
26138980 GOA
involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway IDA
IDA: 通过直接分析推断
29775578 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul2-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
26138980 GOA
is active in nucleus IDA
IDA: 通过直接分析推断
16964437 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

KLHDC2 蛋白结构

Kelch_4

Kelch_4: Galactose oxidase, central domain (32 - 89)

Kelch_4

Kelch_4: Galactose oxidase, central domain (217 - 260)

Kelch_4

Kelch_4: Galactose oxidase, central domain (268 - 308)

Kelch_4

Kelch_4: Galactose oxidase, central domain (318 - 341)

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

kelch domain-containing protein 2

hepatocellular carcinoma-associated antigen 33

关联疾病

疾病名称 别名
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Arrhythmogenic Right Ventricular Dysplasia 3

ARVD3

Arrhythmogenic Right Ventricular Cardiomyopathy 3

Arvc3

Familial Arrhythmogenic Right Ventricular Dysplasia 3

Arrhythmogenic Right Ventricular Dysplasia-3
Ventriculomegaly With Cystic Kidney Disease

VMCKD

Cystic Kidney Disease With Ventriculomegaly

Ventriculomegaly-Cystic Kidney Disease

Ventriculomegaly - Cystic Kidney Disease

Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
Bardet-Biedl Syndrome 5

BBS5

Bardet-Biedl Syndrome, Type 5
Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I

OI1

Oi, Type I

Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta With Blue Sclerae

Osteogenesis Imperfecta Type 1

Adair-Dighton Syndrome

Mild Osteogenesis Imperfecta

Non-Deforming Osteogenesis Imperfecta

Oi Type 1

Van Der Hoeve Syndrome

Classic Non-Deforming Oi With Blue Sclerae

Osteogenesis Imperfecta 1

Oi-I

Osteopenic Non-Fracture Syndrome

Osteogenesis Imperfecta, Mild

Osteogenesis Imperfecta

Lobstein'S Disease
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 (10)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-157491 K2-B4-5e Degrader / 否
HY-157558 KDRLKZ-1 / 否
HY-157559 KDRLKZ-2 / 否
HY-157560 KDRLKZ-3 / 否
HY-168535 SJ6145 / 否
HY-168536 SJ46411 / 否
HY-168634 SJ46421 Inhibitor / 否
HY-168635 SJ46420 Inhibitor / 否
HY-RS07348 KLHDC2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-168646 SJ46411-Br / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus KLHDC2 VGNC VGNC:63136
Macaca mulatta KLHDC2 VGNC VGNC:74087
Rattus norvegicus KLHDC2 RGD RGD:1306504
Canis familiaris KLHDC2 VGNC VGNC:42441
Mus musculus KLHDC2 MGD MGI:1916804
Bos taurus KLHDC2 VGNC VGNC:30635
Others KLHDC2 NCBI
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