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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DTX2P1-UPK3BP1-PMS2P11 Gene

pseudogene GIFtS: 26
GCID: GC07P076614

DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene

(Previous name: DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding)...)

Explore 1 disease affiliated with
DTX2P1-UPK3BP1-PMS2P11 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DTX2P1-UPK3BP1-PMS2P11 Readthrough Transcribed Pseudogene¹ ²
DTX2P1-UPK3BP1-PMS2P11 Readthrough (Non-Protein Coding)¹
PMS2L11²
PMS2P11²
PMSR6²

External Ids:	HGNC: 42360¹	Entrez Gene: 441263²	Ensembl: ENSG00000265479⁷

ORGUL members:
	NONCODE:n387638 n385224

Export aliases for DTX2P1-UPK3BP1-PMS2P11 gene to outside databases

Previous GC identifers: GC07P076611 GC07P076612

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

(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_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for DTX2P1-UPK3BP1-PMS2P11
Other transcription factors

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Search SABiosciences Chromatin IP Primers for DTX2P1-UPK3BP1-PMS2P11

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DTX2P1-UPK3BP1-PMS2P11

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23

DTX2P1-UPK3BP1-PMS2P11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTX2P1-UPK3BP1-PMS2P11 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P076614: view genomic region (about GC identifiers)

Start:	76,610,139 bp from pter	End:	76,673,092 bp from pter
Size:	62,954 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 75,943,202-75,986,141

ORGUL member locations:
Legend (see complete legend)

n385224
n387638

lncRNA
Full Legend

76610138 76641617 76673095 chr7

(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: --
Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_

DTX2P1-UPK3BP1-PMS2P11 Protein expression data from MOPED and PaxDb: --

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

(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

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(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 Central^TM Interacting Genes and Proteins Networks for DTX2P1-UPK3BP1-PMS2P11

(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)
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Search CenterWatch for drugs/clinical trials and news about DTX2P1-UPK3BP1-PMS2P11

(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,
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About This Section

Unigene Cluster for DTX2P1-UPK3BP1-PMS2P11:

DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene

Hs.675888 [show with all ESTs]

Unigene Representative Sequence: NR_023383

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000584900(uc003ufw.4) ENST00000579700(uc011kgn.1)

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Additional cDNA sequence:

BC015750.1 NR_023383.1 U38980.1

16 DOTS entries:

DT.100810684 DT.101987018 DT.102845540 DT.40239991 DT.91713744 DT.92469716 DT.92469784 DT.121042157

DT.121058177 DT.121117142 DT.87077507 DT.91990208 DT.92469833 DT.95144634 DT.95192094 DT.95214454

1 AceView cDNA sequence:

BV172181

GeneLoc Exon Structure

(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

DTX2P1-UPK3BP1-PMS2P11 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCTTCCCC

About this image
Genevestigator expression for DTX2P1-UPK3BP1-PMS2P11

SOURCE GeneReport for Unigene cluster: Hs.675888

SABiosciences Custom PCR Arrays for DTX2P1-UPK3BP1-PMS2P11

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(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

--

ENSEMBL Gene Tree for DTX2P1-UPK3BP1-PMS2P11 (if available)
TreeFam Gene Tree for DTX2P1-UPK3BP1-PMS2P11 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2245368^1,2	C,F,A,H,	--	76608143(+)	`GCTGGT/CCCGTT`	1	--	us2k¹		21		NA NS EA WA CSA EU	2636
rs142729332^1,2		--	76608228(+)	`CTGGGC/TGCCGC`	1	--	us2k¹		0	--	--	--	--
rs190836042^1,2		--	76608432(+)	`CCTGTC/TCCGAC`	1	--	us2k¹		0	--	--	--	--
rs71552445^1,2	C,	--	76608447(+)	`GAGGTT/AGAAGG`	1	--	us2k¹		1		NA	2
rs182689326^1,2		--	76608676(+)	`AGTGGC/TGCAAT`	1	--	us2k¹		0	--	--	--	--
rs12536404^1,2	C,F,A,H,	--	76608740(+)	`CCTCCT/CGAGTA`	1	--	us2k¹		5		NA WA CSA	9
rs187183776^1,2		--	76608749(+)	`TAGCTA/GGGATT`	1	--	us2k¹		0	--	--	--	--
rs190869485^1,2		--	76608775(+)	`CACACA/CTGGCT`	1	--	us2k¹		0	--	--	--	--
rs183177012^1,2		--	76608905(+)	`GCCACC/TGCACC`	1	--	us2k¹		0	--	--	--	--
rs58359911^1,2	C,	--	76608968(+)	`CTCTCG/TGAGCC`	1	--	us2k¹		1		NA	2

HapMap Linkage Disequilibrium report for DTX2P1-UPK3BP1-PMS2P11 (76610139 - 76673092 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DTX2P1-UPK3BP1-PMS2P11: --

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(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

DTX2P1-UPK3BP1-PMS2P11 for disorders About GeneDecksing

1 disease for DTX2P1-UPK3BP1-PMS2P11: About MalaCards

williams syndrome

Export disorders for DTX2P1-UPK3BP1-PMS2P11 gene to outside databases

(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 DTX2P1-UPK3BP1-PMS2P11 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DTX2P1-UPK3BP1-PMS2P11)

Utopia: connect your pdf to the dynamic
world of online information

Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (2011)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PubMed id 20935630)¹ Speliotes E.K....Loos R.J. (2010)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (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)
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (PubMed id 9344666)¹ Osborne L.R....Scherer S.W. (1997)
Genomic organization of the human PMS2 gene family. (PubMed id 8586419)¹ Nicolaides N.C.... Kinzler K.W. (1995)
Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. (PubMed id 7980603)¹ Horii A.... Nakamura Y. (1994)
Mutagenesis of yeast MW104-1B strain has identified the uncharacterized PMS6 DNA mismatch repair gene locus and additional alleles of existing PMS1, PMS2 and MSH2 genes. (PubMed id 7521009)⁹ Jeyaprakash A....Fogel S. (1994)

(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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 441263	HGNC: 42360	AceView: LOC441263	Ensembl:ENSG00000265479	euGenes: HUgn441263
ECgene: DTX2P1-UPK3BP1-PMS2P11	H-InvDB: DTX2P1-UPK3BP1-PMS2P11

(According to HUGE)
About This Section

(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 DTX2P1-UPK3BP1-PMS2P11	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DTX2P1-UPK3BP1-PMS2P11 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DTX2P1-UPK3BP1-PMS2P11 gene:
Search GeneIP for patents involving DTX2P1-UPK3BP1-PMS2P11

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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DTX2P1-UPK3BP1-PMS2P11 Gene

DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene

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DTX2P1-UPK3BP1-PMS2P11 Gene

DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene

Aliasesfor DTX2P1-UPK3BP1-PMS2P11 gene

Summariesfor DTX2P1-UPK3BP1-PMS2P11 gene

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Transcriptsfor DTX2P1-UPK3BP1-PMS2P11 gene

Expression for DTX2P1-UPK3BP1-PMS2P11 gene

Orthologsfor DTX2P1-UPK3BP1-PMS2P11 gene

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Genomic Variantsfor DTX2P1-UPK3BP1-PMS2P11 gene

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Expression
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