R3HDM2 Gene
protein-coding GIFtS: 50
GCID: GC12M057647
|
|
R3H domain containing 2
| |
Aliases
for R3HDM2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| R3H Domain Containing 21 2 | | KIAA10021 3 | | PR013652 | | R3H Domain-Containing Protein 22 |
Export aliases for R3HDM2 gene to outside databasesPrevious GC identifers: GC12M055934 GC12M054686 |
Summaries
for R3HDM2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for R3HDM2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the R3HDM2 gene promoter:
p53 MEF-2 GATA-1 Roaz FOXL1 MEF-2A FOXC1 HSF2 aMEF-2 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for R3HDM2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat R3HDM2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13.3 Ensembl cytogenetic band: 12q13.3 HGNC cytogenetic band: 12q13.3R3HDM2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M057647: view genomic region
(about GC identifiers)
Start:
|
57,643,392 bp from pter |
End:
|
57,824,788 bp from pter |
Size:
|
181,397 bases |
Orientation:
|
minus strand |
|
Proteins
for R3HDM2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: R3HD2_HUMAN, Q9Y2K5 (See
protein sequence)Recommended Name: R3H domain-containing protein 2 Size: 976 amino acids; 106999 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAI04996.2; Type=Erroneous initiation; Sequence=AAI12227.2; Type=Erroneous initiation;Sequence=BAA76846.2; Type=Frameshift; Positions=4;
1 PDB 3D structure from  and Proteopedia  for R3HDM2:1WHR (3D)
Secondary accessions: Q2M1T9 Q3ZCT5Alternative splicing: 2 isoforms: Q9Y2K5-1 Q9Y2K5-2 Explore the universe of human proteins at neXtProt for R3HDM2: NX_Q9Y2K5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y2K5
R3HDM2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055740.3
ENSEMBL proteins: ENSP00000377400 ENSP00000317903 ENSP00000385839 ENSP00000449326 ENSP00000394676 ENSP00000385169 ENSP00000449279 ENSP00000450411 ENSP00000405777 ENSP00000409146 ENSP00000351784 ENSP00000408536
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
R3HDM2 for ontologies About GeneDecksing
R3HDM2 Antibody Products:
Assay Products for R3HDM2: |
Protein
Domains /
Families
for R3HDM2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
R3HDM2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y2K5ProtoNet protein and cluster: Q9Y2K5 1 Blocks protein family: IPB001374 Single-stranded nucleic acid binding R3H
UniProtKB/Swiss-Prot: R3HD2_HUMAN, Q9Y2K5Similarity: Contains 1 R3H domain |
Function
for R3HDM2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for R3HDM2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for R3HDM2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: R3HDM2 (NM_014925) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HDM2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003676 | nucleic acid binding |
IEA | -- |
R3HDM2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for R3HDM2:
|
Pathways & Interactions
for R3HDM2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for R3HDM2
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
4 Interacting proteins for R3HDM2 (Q9Y2K52, 3 ENSP000003179034) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for R3HDM2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for R3HDM2
Search CenterWatch for drugs/clinical trials and news about R3HDM2 / R3HD2
|
Transcripts
for R3HDM2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for R3HDM2 gene: NM_014925.3 Unigene Cluster for R3HDM2: R3H domain containing 2 Hs.443673 [show with all ESTs]Unigene Representative Sequence: AB02321916 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000393811(uc001snu.2 uc001snr.2) ENST00000347140(uc001sns.2 uc009zpo.1)
ENST00000402412(uc001snt.2) ENST00000466401 ENST00000429355 ENST00000403821
ENST00000548161 ENST00000546843 ENST00000547262 ENST00000547019 ENST00000552428
ENST00000551465 ENST00000448732 ENST00000413953(uc010srn.1) ENST00000358907(uc009zpm.1)
ENST00000441731
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for R3HDM2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for R3HDM2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: R3HDM2 (NM_014925) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for R3HDM2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat R3HDM2 |
Additional cDNA sequence: AB023219.1 AF113695.1 AK293394.1 BC008143.1 BC041857.1 BC104995.1 BC107434.1 BC112226.1 BC143605.1 X85326.1 10 DOTS entries: DT.91734238 DT.91693237 DT.97792025 DT.91734232 DT.121193891 DT.121193943 DT.97800060 DT.91734233 DT.91740572 DT.95172203 24/113 AceView cDNA sequences (see all 113): BG152380 BC008143 AF113695 AL120641 AA706412 CD514485 AI913137 BM128657 N36352 BU674268 AA999900 AA489986 AX775763 CR596895 BM703403 AA653633 CA429753 AX775761 AB023219 BM919732 BM128228 AW117192 AA035611 M85796
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for R3HDM2 (see all 8) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP4: | | | | | | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 18 | ^ | 19 |
|---|
|
| SP1: | | | | | |
| SP2: | | | | | |
| SP3: | | | | | |
| SP4: | | | | | |
| SP5: | | | | |
ECgene alternative splicing isoforms for R3HDM2
|
Expression
for R3HDM2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| R3HDM2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTAACAGTA
About this image
See R3HDM2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for R3HDM2
SOURCE GeneReport for Unigene cluster: Hs.443673
SABiosciences Custom PCR Arrays for R3HDM2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for R3HDM2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat R3HDM2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat R3HDM2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat R3HDM2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HDM2 |
Orthologs
for R3HDM2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for R3HDM2 gene from 9/22 species (see all 22) About this table
ENSEMBL Gene Tree for R3HDM2 (if available)
TreeFam Gene Tree for R3HDM2 (if available) |
Paralogs
for R3HDM2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for R3HDM2 gene
- ARPP212 R3HDM12
5 SIMAP similar genes for R3HDM2 using alignment to 11 protein entries: R3HD2_HUMAN (see all proteins):ARPP21 FLJ20555 R3HDM R3HDM1 C3orf64
R3HDM2 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for R3HDM2
PGOHUM00000246082 PGOHUM00000243310
|
Genomic Variants
for R3HDM2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for R3HDM2 (57643392 - 57824788 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for R3HDM2
1 Indel: 25038 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing R3HDM2 |
|
Disorders
/ Diseases
for R3HDM2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
R3HDM2 for disorders About GeneDecksing
2  diseases for R3HDM2: About MalaCardsgout ataxia
Human Genome Epidemiology (HuGE) Navigator: R3HDM2 (1 document)
Export disorders for R3HDM2 gene to outside databases
|
Publications
for R3HDM2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for R3HDM2 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with R3HDM2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Multiple genetic Loci influence serum urate levels an d their relationship with gout and cardiovascular disease risk factors. (PubMed id 20884846)1 Yang Q....Coresh J. (2010)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for R3HDM2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing R3HDM2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing R3HDM2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing R3HDM2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for R3HDM2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for R3HDM2 gene:
Search GeneIP for patents involving R3HDM2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for R3HDM2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat R3HDM2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing R3HDM2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat R3HDM2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat R3HDM2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat R3HDM2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat R3HDM2 |
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 | | | R3HDM2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HDM2 |
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