R3HDM2 - R3H domain containing 2 Gene

Homo sapiens

Also known as CAG6; PR01365

Gene ID: 22864 | Gene type: protein coding

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

R3HDM2 Protein Structure

R3H

0
200
400
600
800
976 a.a.

Protein Preferred Names

Protein Names

R3H domain-containing protein 2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11512	R3HDM2 Human Pre-designed siRNA Set A		/	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

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