2. Gene
  3. RNF220 - ring finger protein 220 Gene

RNF220 - ring finger protein 220 Gene

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

中文名称：无名指蛋白 220

种属: Homo sapiens

同用名: HLD23; C1orf164

基因 ID: 55182 | 基因类型: protein coding

关于 RNF220

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:44,404,783-44,651,724 (from NCBI)

This gene has 18 transcripts (splice variants), 358 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 10.7), testis (RPKM 7.1) and 25 other tissues.

功能概要

预测可启用泛素蛋白连接酶活性。参与经典 Wnt 信号通路的正调控。部分含蛋白质复合物。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable ubiquitin protein Ligase activity. Involved in positive regulation of canonical Wnt signaling pathway. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

RNF220 基因产物(7)

mRNA Protein Name
NM_001319956.1 NP_001306885.1 E3 ubiquitin-protein ligase RNF220 isoform 1
NM_001319957.2 NP_001306886.1 E3 ubiquitin-protein ligase RNF220 isoform 2
NM_001376486.1 NP_001363415.1 E3 ubiquitin-protein ligase RNF220 isoform 3
NM_001376487.1 NP_001363416.1 E3 ubiquitin-protein ligase RNF220 isoform 3
NM_001376488.1 NP_001363417.1 E3 ubiquitin-protein ligase RNF220 isoform 1
NM_001376489.1 NP_001363418.1 E3 ubiquitin-protein ligase RNF220 isoform 4
NM_018150.4 NP_060620.2 E3 ubiquitin-protein ligase RNF220 isoform 1
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 beta-catenin binding IMP
IMP: 通过突变表型推断
33964137 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19549727 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive regulation of DNA-binding transcription factor activity IGI
IGI: 通过遗传相互作用推断
32094113 GOA
involved in positive regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
25266658 GOA
acts upstream of or within protein monoubiquitination IGI
IGI: 通过遗传相互作用推断
32094113 GOA
acts upstream of or within regulation of transcription regulatory region DNA binding IGI
IGI: 通过遗传相互作用推断
32094113 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear lamina IMP
IMP: 通过突变表型推断
33964137 GOA
located in nucleus IMP
IMP: 通过突变表型推断
33964137 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
30177510 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

RNF220 蛋白结构

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (514 - 552)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 566 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF220

RING-type E3 ubiquitin transferase RNF220

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy

HLD23
Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type

Mcs

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Mrxs4

Miles-Carpenter X-Linked Mental Retardation Syndrome
Leukodystrophy

Leukodystrophies
Venezuelan Hemorrhagic Fever

Guanarito Hemorrhagic Fever

Vehf - [Venezuelan Haemorrhagic Fever]
Cerebellum Cancer

Cerebellar Neoplasms

Cerebellar Cancer

Malignant Tumor Of Cerebellum

Malignant Neoplasm Of Cerebellum
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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-RS12082 RNF220 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RNF220 VGNC VGNC:34055
Felis catus RNF220 VGNC VGNC:64697
Rattus norvegicus RNF220 RGD RGD:1598210
Macaca mulatta RNF220 VGNC VGNC:100062
Canis familiaris RNF220 VGNC VGNC:108233
Mus musculus RNF220 MGD MGI:1913993
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