1. Gene
  2. ZNRF3 - zinc and ring finger 3 Gene

ZNRF3 - zinc and ring finger 3 Gene

中文名称:锌和无名指 3

种属: Homo sapiens

同用名: RNF203; BK747E2.3

基因 ID: 84133 | 基因类型: protein coding

关于 ZNRF3

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:28,883,572-29,057,488 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 81 phenotypes. Ubiquitous expression in kidney (RPKM 4.8), brain (RPKM 4.7) and 24 other tissues.

功能概要

启用卷曲结合活性和泛素蛋白转移酶活性。参与细胞蛋白质代谢过程和 Wnt 信号通路的负调控。是质膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables Frizzled binding activity and ubiquitin-protein transferase activity. Involved in cellular protein metabolic process and negative regulation of Wnt signaling pathway. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ZNRF3 基因产物(2)

mRNA Protein Name
NM_001206998.2 NP_001193927.1 E3 ubiquitin-protein ligase ZNRF3 isoform 1 precursor
NM_032173.4 NP_115549.2 E3 ubiquitin-protein ligase ZNRF3 isoform 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 frizzled binding IPI
IPI: 通过物理相互作用推断
22575959 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22575959 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
22575959 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Wnt receptor catabolic process IMP
IMP: 通过突变表型推断
22575959 GOA
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
22575959 GOA
involved in negative regulation of non-canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
22575959 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
22575959 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
22575959 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
22575959 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

ZNRF3 蛋白结构

zf-RING_2

zf-RING_2: Ring finger domain (292 - 334)

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

E3 ubiquitin-protein ligase ZNRF3

CTA-292E10.6

重组 ZNRF3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78750 ZNRF3 Protein, Human (HEK293, His) Q9ULT6-1 (K56-M219) ≥95%

关联疾病

疾病名称 别名
Adrenal Carcinoma

Adrenal Cancer

Adrenal Gland Cancer

Malignant Neoplasm Of Adrenal Gland

Adrenal Gland Neoplasms

Carcinoma Of The Adrenal Gland

Adrenal Neoplasm

Malignant Adrenal Tumor

Neoplasm Of Adrenal Gland

Tumor Of The Adrenal Gland

Adrenal Gland Neoplasm

Adrenocortical Carcinoma

Adrenal Gland Malignancy

Suprarenal Cancer

Malignant Neoplasm Of Suprarenal Gland

Malignant Neoplasm Of Adrenal Gland, Unspecified

Malignant Tumour Of Adrenal Gland

Suprarenal Gland Cancer

Primary Malignant Neoplasm Of Adrenal Gland

Tetraamelia Syndrome

Tetra-Amelia Syndrome

Tetraamelia-Multiple Malformations Syndrome

Tetra-Amelia

Tetra-Amelia, Autosomal Recessive

Tetraamelia, Autosomal Recessive

Total Amelia

Zimmer Phocomelia

Tetams

Zimmer Taub Sova Syndrome

Uterine Corpus Endometrial Carcinoma
Osteoblastoma
Adrenal Cortex Disease

Adrenal Cortex Diseases

Skin Melanoma

Cutaneous Melanoma

Malignant Ear Melanoma

Malignant Lip Melanoma

Malignant Lower Limb Melanoma

Malignant Melanoma Of Ear And/Or External Auricular Canal

Malignant Melanoma Of Skin Of Lower Limb

Malignant Melanoma Of Skin Of Trunk Except Scrotum

Malignant Melanoma Of Skin Of Upper Limb

Malignant Neck Melanoma

Malignant Scalp Melanoma

Malignant Trunk Melanoma

Malignant Upper Limb Melanoma

Melanoma, Cutaneous Malignant

Melanoma

Malignant Melanoma Of Skin

Melanoma Nos

Malignant Mole, Meaning Melanoma Of Unspecified Site

Melanoma Of Unspecified Site

Cutaneous Malignant Melanoma

Mm - [Malignant Melanoma]

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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
Felis catus ZNRF3 VGNC VGNC:67372
Macaca mulatta ZNRF3 VGNC VGNC:79114
Canis familiaris ZNRF3 VGNC VGNC:48840
Mus musculus ZNRF3 MGD MGI:3039616
Rattus norvegicus ZNRF3 RGD RGD:1593771
Bos taurus ZNRF3 VGNC VGNC:55766
Others ZNRF3 NCBI