V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

R3HDM2 Gene

protein-coding GIFtS: 53

GC12M055934

R3H domain containing 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
KIAA1002 ^¹, ², ³
PR01365 ^²

Descriptions
R3H domain containing 2 ^²

External Ids
HGNC: 29167¹
Entrez Gene: 22864²
UniProtKB: Q9Y2K5³
Ensembl: ENSG00000179912⁷

Search outside databases for aliases for R3HDM2 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the R3HDM2 gene

Entrez Gene cytogenetic band: 12q13.3 Ensembl cytogenetic band: 12q13.3 HGNC cytogenetic band: 12q13.3

R3HDM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M055934: (about GC identifiers)

Start:	55,933,814 bp from pter
End:	56,111,055 bp from pter
Size:	177,242 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000012.10 NT_029419.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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=BAA76846.2; Type=Frameshift; Positions=4;

PDB structures from and Proteopedia :

1WHR (3D)

Secondary accessions: Q2M1T9 Q3ZCT5

Alternative splicing: 2 isoforms: Q9Y2K5-1 Q9Y2K5-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_055740.3

ENSEMBL proteins:

ENSP00000317903 ENSP00000385169 ENSP00000351784 ENSP00000377400 ENSP00000385839

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (R3HDM2)
	Human Recombinant Proteins from Abnova (R3HDM2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

About this table

Antibodies for R3HDM2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for R3HDM2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (R3HDM2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (R3HDM2)
	Novus Biologicals Antibody for R3HDM2

Assays for R3HDM2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q9Y2K5

ProtoNet protein and cluster: Q9Y2K5

1 Blocks protein family: IPB001374 Single-stranded nucleic acid binding R3H

UniProtKB/Swiss-Prot: R3HD2_HUMAN, Q9Y2K5

Similarity: Contains 1 R3H domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (R3HDM2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (R3HDM2)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014925

Applied Biosystems Silencer® siRNAs for R3HDM2

Sigma-Aldrich siRNA for R3HDM2

Sigma-Aldrich shRNA for R3HDM2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for R3HDM2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_014925
Myc/DDK tagged cDNA clone in CMV expression vector: NM_014925
untagged cDNA clones in CMV expression vector (see all 2): NM_014925

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_014925

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for R3HDM2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (R3HDM2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (R3HDM2)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014925

Sigma-Aldrich siRNA for R3HDM2

Sigma-Aldrich shRNA for R3HDM2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_014925

REFSEQ mRNAs for R3HDM2 gene:

NM_014925.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_014925

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014925
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014925
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_014925

Additional cDNA sequence:

AB023219.1 AF113695.1 AK293394.1 BC008143.1 BC041857.1 BC104995.1 BC107434.1 BC112226.1

BC143605.1 CR596895.1 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 ):

CD514485 CA429753 AA653633 AB023219 BM128657 AX775761 CR596895 AA706412

AL120641 AA489986 BU674268 AF113695 N36352 BG152380 BM703403 BC008143

AA999900 AI913137 AX775763 BX442310 BG014460 NM_014925 BE220783 BG911200

highest scoring ESTs for R3HDM2:

AB023219 BC041857 BM919732 BX442310 CF136080 AA322404 AA363130 AA420787 AA470612 AF113695

Unigene Cluster for R3HDM2:

R3H domain containing 2

Hs.443673 [show with all ESTs]

Unigene Representative Sequence: AB023219

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for R3HDM2 (see all 8 )

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:

About this scheme

ECgene alternative splicing isoforms for R3HDM2

5 Ensembl transcripts including schematic representations:

ENST00000347140 ENST00000403821 ENST00000358907 ENST00000393811 ENST00000402412

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

R3HDM2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for R3HDM2

¹ / ² / ³

4 probe-sets matching R3HDM2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
41366_at²^{, 3}	U95-A	1	1.00	1.00	0.77	0.76	AB023219	1.00	1.00	1.00	1
63906_f_at²^{, 3}	U95-C	3341	0.75	0.00	0.71	1.24	R98835	0.20	0.02	0.14	1
203831_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_014925	0.40	1.00	0.76	1
203831_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCTAACAGTA

SOURCE GeneReport for Unigene cluster: Hs.443673

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for R3HDM2 gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
mouse (Mus musculus)	R3hdm2⁵	10	R3H domain containing 2	--	BY633335
baker's yeast (Saccharomyces cerevisiae)	RBS1(YDL189W)⁴	4(122217-123590)	Protein of unknown function, identified as a high copy more	--	851338 NP_010092.2
African clawed frog (Xenopus laevis)	BJ624156.1²	--	--	74.08(n)	BJ624156.1
rainbow trout (Oncorhynchus mykiss)	BX875568.1²	--	--	72.22(n)	BX875568.1

About this table Species with no ortholog for R3HDM2

ENSEMBL Gene Tree for R3HDM2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for R3HDM2 gene

ARPP-21² R3HDM1²

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/166 NCBI SNPs in R3HDM2 are shown (see all 166 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 42)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
--	rs11832661^1,2	C,F,H	55990376(+)	`TGGAGT/CCTTAG`	1	A/T	mis¹ ese³		4	EU EA WA	406
	rs11172135^1,2	C,F,H	55933641(+)	`GAACCG/ATGTAC`	1	--	ng5¹		8	EU EA WA	836
	rs4075325^1,2	A,C,F,H	55936107(-)	`CTGAAG/ACATGG`	1	K/K	syn¹ ese³		8	EU EA WA NA	770
	rs7133939^1,2	A,C,F,H	55962522(+)	`TTAGAT/ACTGTT`	1	--	int¹		4	EU EA WA	416
	rs10783819^1,2	A,C,F,H	55953528(+)	`GGAAGG/CGGGGA`	1	--	int¹ trp³		4	EU EA WA	410
	rs11172142^1,2	A,C,F,H	55966368(+)	`ATTTGT/ACAATG`	1	--	int¹		4	EU EA WA	420
	rs7135142^1,2	A,C,F,H	55959180(+)	`AGAAGA/GGAGTA`	1	--	int¹ trp³		8	EU EA WA NA	624
	rs7397991^1,2	A,C,F,H	55961470(+)	`tgccaG/Agcact`	1	--	int¹		4	EU EA WA	408
	rs12227309^1,2	A,C,F,H	55965297(+)	`AAGGGC/TATTAA`	1	--	int¹		3	EA WA	274
	rs6581131^1,2	A,C,F,H	55939230(+)	`GCTACG/ATCTTG`	1	--	int¹		12	EA NA EU WA	990

About this table

HapMap Linkage Disequilibrium images for R3HDM2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

6 PubMed articles for R3HDM2 gene:

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)^{3, 4} Nagase T....Ohara O. (1999)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)⁴ 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)³ 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)⁴ 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)³ Strausberg R.L....Marra M.A. (2002)
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)³ Dias Neto E....Simpson A.J.G. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 22864	HGNC: 29167	AceView: KIAA1002	Ensembl:ENSG00000179912	euGenes: HUgn22864
ECgene: R3HDM2	H-InvDB: R3HDM2

(According to HUGE)
About This Section

HUGE: KIAA1002

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for R3HDM2
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for R3HDM2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for R3HDM2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for R3HDM2		Antibodies for R3HDM2
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for R3HDM2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (R3HDM2)
	Antibodies (R3HDM2)
	Chimera RNAi (R3HDM2)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (R3HDM2)
	Antibodies (R3HDM2)

Search OriGene for R3HDM2

Search Tocris compounds for R3HDM2

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for R3HDM2

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
R3HDM2 Gene at Home site.
Version 2.41.1
server4.xennexinc.com

R3HDM2 Gene

protein-coding GIFtS: 53

Aliases &
Descriptions
for R3HDM2

Summaries
for R3HDM2

Genomic Location
for R3HDM2

Proteins
for R3HDM2

Protein Domains/
Families
for R3HDM2

Gene Function
for R3HDM2

Pathways & Interactions
for R3HDM2

Drugs & Compounds
for R3HDM2

Transcripts
for R3HDM2

Expression
for R3HDM2

Orthologs
for R3HDM2

Paralogs
for R3HDM2

SNPs/Variants
for R3HDM2

Disorders & Mutations
for R3HDM2

Medical News
for R3HDM2

Publications
for R3HDM2

Search for R3HDM2

Genome Databases showing R3HDM2

Other Databases showing R3HDM2

Specialized Databases showing R3HDM2

Licensable Technologies
for R3HDM2

Services
for R3HDM2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

R3HDM2 Gene

protein-coding GIFtS: 53

Aliases & Descriptionsfor R3HDM2

Summariesfor R3HDM2

Genomic Locationfor R3HDM2

Proteinsfor R3HDM2

Protein Domains/Familiesfor R3HDM2

Gene Functionfor R3HDM2

Pathways & Interactionsfor R3HDM2

Drugs & Compoundsfor R3HDM2

Transcriptsfor R3HDM2

Expression for R3HDM2

Orthologsfor R3HDM2

Paralogsfor R3HDM2

SNPs/Variantsfor R3HDM2

Disorders & Mutationsfor R3HDM2

Medical Newsfor R3HDM2

Publicationsfor R3HDM2

Search for R3HDM2

Genome Databases showing R3HDM2

Other Databases showing R3HDM2

Specialized Databases showing R3HDM2

Licensable Technologiesfor R3HDM2

Servicesfor R3HDM2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for R3HDM2

Summaries
for R3HDM2

Genomic Location
for R3HDM2

Proteins
for R3HDM2

Protein Domains/
Families
for R3HDM2

Gene Function
for R3HDM2

Pathways & Interactions
for R3HDM2

Drugs & Compounds
for R3HDM2

Transcripts
for R3HDM2

Expression
for R3HDM2

Orthologs
for R3HDM2

Paralogs
for R3HDM2

SNPs/Variants
for R3HDM2

Disorders & Mutations
for R3HDM2

Medical News
for R3HDM2

Publications
for R3HDM2

Licensable Technologies
for R3HDM2

Services
for R3HDM2