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  2. R3HDM2 - R3H domain containing 2 Gene

R3HDM2 - R3H domain containing 2 Gene

中文名称:含 R3H 结构域 2

种属: Homo sapiens

同用名: CAG6; PR01365

基因 ID: 22864 | 基因类型: protein coding

关于 R3HDM2

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,253,764-57,431,141 (from NCBI)

This gene has 15 transcripts (splice variants), 207 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 15.1), testis (RPKM 12.9) and 25 other tissues.

功能概要

启用 RNA 结合活性。预测位于核内。 [由基因组资源联盟提供,2022 年 4 月]

Enables RNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

R3HDM2 基因产物(19)

mRNA Protein Name
NM_001330121.2 NP_001317050.1 R3H domain-containing protein 2 isoform 1
NM_001330122.2 NP_001317051.1 R3H domain-containing protein 2 isoform 1
NM_001330123.2 NP_001317052.1 R3H domain-containing protein 2 isoform 3
NM_001351204.2 NP_001338133.1 R3H domain-containing protein 2 isoform 4
NM_001351205.2 NP_001338134.1 R3H domain-containing protein 2 isoform 4
NM_001351206.2 NP_001338135.1 R3H domain-containing protein 2 isoform 4
NM_001351207.2 NP_001338136.1 R3H domain-containing protein 2 isoform 5
NM_001351208.2 NP_001338137.1 R3H domain-containing protein 2 isoform 6
NM_001351209.2 NP_001338138.1 R3H domain-containing protein 2 isoform 7
NM_001351211.2 NP_001338140.1 R3H domain-containing protein 2 isoform 8
NM_001351212.2 NP_001338141.1 R3H domain-containing protein 2 isoform 9
NM_001351213.2 NP_001338142.1 R3H domain-containing protein 2 isoform 9
NM_001351214.2 NP_001338143.1 R3H domain-containing protein 2 isoform 9
NM_001351215.2 NP_001338144.1 R3H domain-containing protein 2 isoform 9
NM_001351216.2 NP_001338145.1 R3H domain-containing protein 2 isoform 10
NM_001351217.2 NP_001338146.1 R3H domain-containing protein 2 isoform 11
NM_001351218.2 NP_001338147.1 R3H domain-containing protein 2 isoform 11
NM_001394031.1 NP_001380960.1 R3H domain-containing protein 2 isoform 12
NM_014925.5 NP_055740.3 R3H domain-containing protein 2 isoform 2
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

R3HDM2 蛋白结构

R3H

R3H: R3H domain (169 - 229)

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

R3H domain-containing protein 2

R3HDM2 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
Intra R3HDM2 Q9Y2K5 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP10-7 Homo sapiens P60409
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP13-3 Homo sapiens Q3SY46
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRTAP13-3 Homo sapiens Q3SY46
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRTAP12-3 Homo sapiens P60328
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP12-3 Homo sapiens P60328
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRTAP1-1 Homo sapiens Q07627
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP1-1 Homo sapiens Q07627
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 SPRY3 Homo sapiens O43610
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 SPRY3 Homo sapiens O43610
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 MEI4 Homo sapiens A8MW99
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 MEI4 Homo sapiens A8MW99
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 NOTCH2NLC Homo sapiens P0DPK4
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 NOTCH2NLC Homo sapiens P0DPK4
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 TRIM42 Homo sapiens Q8IWZ5
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 TRIM42 Homo sapiens Q8IWZ5
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP4-12 Homo sapiens Q9BQ66
Y2H Prey Pooling
32296183
Intra R3HDM2 Q9Y2K5 KRTAP4-12 Homo sapiens Q9BQ66
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Intra R3HDM2 Q9Y2K5 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
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
Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 SUPERACTIVITY

Prpp Synthetase Superactivity

Gout, Prps-Related

Prpp Synthetase Deficiency

Prpp Synthetase Overactivity

Prs Overactivity

Prs Superactivity

Mild Phosphoribosylpyrophosphate Synthetase Superactivity

Mild Prpp Synthetase Superactivity

Mild Prps1 Superactivity

Severe Phosphoribosylpyrophosphate Synthetase Superactivity

Severe Prpp Synthetase Superactivity

Severe Prps1 Superactivity

Prps-Related Gout

Superactivity, Phosphoribosylpyrophosphate Synthetase

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Familial Juvenile Hyperuricemic Nephropathy

Mckd2

Familial Juvenile Hyperuricemic Nephropathy Type 1

Fjhn

Medullary Cystic Kidney Disease 2

Uromodulin-Associated Kidney Disease

Medullary Cystic Kidney Disease Type 2

ADTKD1

Hnfj1

Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

Adtkd-Umod

Familial Juvenile Hyperuricemic Nephropathy 1

Umod-Related Adtkd

Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Hyperuricemic Nephropathy, Familial Juvenile, 1

Gouty Nephropathy, Familial Juvenile

Medullary Cystic Kidney Disease 2, Autosomal Dominant

Admckd2

Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

Adtkd Due To Umod Mutations

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Autosomal Dominant Medullary Cystic Kidney Disease Type 2

Umod-Associated Kidney Disease

Uromodulin Kidney Disease

Familial Gout-Kidney Disease

Familial Gouty Nephropathy

Umak

Umod-Related Kidney Disease

Uromodulin Storage Disease

Fjhn1

Gouty Nephropathy Familial Juvenile

Nephropathy Familial With Gout

Hyperuricemic Nephropathy, Familial Juvenile 1

Hyperuricemic Nephropathy, Familial Juvenile

Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

Kidney Disease, Cystic, Medullary, Type 2

Medullary Cystic Kidney Disease Type Ii

Familial Juvenile Gout

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
Bos taurus R3HDM2 VGNC VGNC:106430
Rattus norvegicus R3HDM2 RGD RGD:1310066
Mus musculus R3HDM2 MGD MGI:1919000
Macaca mulatta R3HDM2 VGNC VGNC:97815
Canis familiaris R3HDM2 VGNC VGNC:97214
Felis catus R3HDM2 VGNC VGNC:97578