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KCNQ1 downstream neighbor (non-protein coding)(Previous name: KCNQ1 downstream neighbor )
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Aliases
for KCNQ1DN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
Subcategory (RNA class): lncRNA
Quality score for this RNA gene is 8
| Aliases |
|---|
| KCNQ1 Downstream Neighbor (Non-Protein Coding)1 2 | | BWRT1 2 3 | | HSA4046171 2 | | KCNQ1 Downstream Neighbor1 | | Beckwith-Wiedemann Region Transcript Protein3 |
| External Ids: | HGNC: 133351 | Entrez Gene: 555392 | Ensembl: ENSG000002379417 | OMIM: 6109805 | UniProtKB: Q9H4783 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n372397 | |
Export aliases for KCNQ1DN gene to outside databasesPrevious GC identifers: GC11P002856 GC11P002679
Summaries
for KCNQ1DN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KCNQ1DN:
Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genesbased on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosityof a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene locatedwithin the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 (PubMed11056398)).(supplied by OMIM, Mar 2008)
Gene Wiki entry for KCNQ1DN
|
Genomic Views
for KCNQ1DN 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_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KCNQ1DN gene promoter:
Sox5 STAT1 HOXA3 MyoD STAT1beta C/EBPalpha STAT1alpha AREB6 CP2 FOXO4
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNQ1DN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNQ1DN |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15.4|11p15.5 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15.5KCNQ1DN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P002847: view genomic region
(about GC identifiers)
Start:
|
2,891,263 bp from pter |
End:
|
2,893,335 bp from pter |
Size:
|
2,073 bases |
Orientation:
|
plus strand |
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Proteins
for KCNQ1DN 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: KCQ1D_HUMAN, Q9H478 (See
protein sequence)Recommended Name: KCNQ1 downstream neighbor protein Size: 68 amino acids; 7384 DaExplore the universe of human proteins at neXtProt for KCNQ1DN: NX_Q9H478
KCNQ1DN Protein expression data from MOPED and PaxDb: --
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:0005575 | cellular_component |
ND | -- |
KCNQ1DN for ontologies About GeneDecksing
KCNQ1DN Antibody Products:
Assay Products for KCNQ1DN: |
Protein
Domains /
Families
for KCNQ1DN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9H478 |
Function
for KCNQ1DN 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
|
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1DN |
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:0003674 | molecular_function |
ND | -- |
KCNQ1DN for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for KCNQ1DN:
|
Pathways & Interactions
for KCNQ1DN 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 KCNQ1DN
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
KCNQ1DN for ontologies About GeneDecksing
|
Drugs & Compounds
for KCNQ1DN 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 KCNQ1DN
Search CenterWatch for drugs/clinical trials and news about KCNQ1DN 
|
Transcripts
for KCNQ1DN 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 KCNQ1DN gene: NM_018722.2 Unigene Cluster for KCNQ1DN: KCNQ1 downstream neighbor (non-protein coding) Hs.127821 [show with all ESTs]Unigene Representative Sequence: AB0399201 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000441418(uc009ydq.3)
Additional cDNA sequence: AB039920.1 AJ404617.2 BC098159.1 BC098256.1 BC098319.1 BC098344.1 NR_024627.1 1 DOTS entry: DT.40127092 8 AceView cDNA sequences: AI732937 AA828167 AB039920 AI791256 AW181922 NM_018722 AJ404617 AW182106
GeneLoc Exon Structure
|
Expression
for KCNQ1DN 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
| Expression evidence for KCNQ1DN:NONCODE
KCNQ1DN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGACCCCAAA
About this image
Genevestigator expression for KCNQ1DN
SOURCE GeneReport for Unigene cluster: Hs.127821
UniProtKB/Swiss-Prot: KCQ1D_HUMAN, Q9H478Tissue specificity: Shows reduced expression in Wilms' tumor samples
SABiosciences Custom PCR Arrays for KCNQ1DN
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KCNQ1DN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNQ1DN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNQ1DN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1DN |
Orthologs
for KCNQ1DN 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
|
--
ENSEMBL Gene Tree for KCNQ1DN (if available)
TreeFam Gene Tree for KCNQ1DN (if available) |
Paralogs
for KCNQ1DN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for KCNQ1DN 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 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KCNQ1DN (2891263 - 2893335 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for KCNQ1DN
5 CNVs: 29898 29899 3832 30534 4730 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for KCNQ1DN 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
|
KCNQ1DN for disorders About GeneDecksing
OMIM gene information: 610980
OMIM disorders: --
2  diseases for KCNQ1DN: About MalaCardswilms tumor wilms tumor 2
Export disorders for KCNQ1DN gene to outside databases
|
Publications
for KCNQ1DN 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 KCNQ1DN gene integrated from 9 sources:
(articles sorted by number of sources associating them with KCNQ1DN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors. (PubMed id 11056398)1, 2, 3, 9 Xin Z.... Mukai T. (2000)
- Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting. (PubMed id 11063728)1, 2, 3 Engemann S.... Walter J. (2000)
- Epigenetic-aging-signature to determine age in differ ent tissues. (PubMed id 22067257)1, 3 Koch C.M. and Wagner W. (2011)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
- 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 KCNQ1DN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KCNQ1DN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KCNQ1DN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNQ1DN 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 KCNQ1DN | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KCNQ1DN gene:
Search GeneIP for patents involving KCNQ1DN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNQ1DN 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 KCNQ1DN | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNQ1DN | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNQ1DN | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNQ1DN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNQ1DN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNQ1DN |
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 |  |  |  | |
| | | | Search Tocris compounds for KCNQ1DN |
| |  |  |  |  | | | | |
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 | | | KCNQ1DN Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1DN |
|  |  |  | | | | Search ThermoFisher Antibodies for KCNQ1DN |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KCNQ1DN |
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