R3HDM2 - R3H domain containing 2 Gene

Also Known as CAG6; PR01365

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22864

About 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.

Summary

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

R3HDM2 Products (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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

R3HDM2 Protein Structure

R3H

R3H: R3H domain (169 - 229)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 976 a.a.
Protein Preferred Names Protein Names

R3H domain-containing protein 2

R3HDM2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11512 R3HDM2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others R3HDM2 NCBI