C9orf53 Gene
protein-coding GIFtS: 29
GCID: GC09P021959
|
|
chromosome 9 open reading frame 53
| |
Aliases
for C9orf53 gene
(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 |
|---|
| Chromosome 9 Open Reading Frame 531 2 | | BA149I2.31 |
| External Ids: | HGNC: 238311 | Entrez Gene: 511982 | Ensembl: ENSG000002248547 | UniProtKB: Q9UH643 | | ORGUL members: | |
|---|
| NONCODE:n387690 | |
Export aliases for C9orf53 gene to outside databasesPrevious GC identifer: GC09U900641
|---|
Summaries
for C9orf53 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 C9orf53 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_000009.11 NC_018920.1 NT_008413.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C9orf53 gene promoter:
HOXA9 HOXA9B Sox5 Pax-5 Sp1 Meis-1b Evi-1 C/EBPalpha Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for C9orf53
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf53 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9p21.3 Ensembl cytogenetic band: 9p21.3 HGNC cytogenetic band: 9p21.3C9orf53 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P021959: view genomic region
(about GC identifiers)
Start:
|
21,967,137 bp from pter |
End:
|
21,967,753 bp from pter |
Size:
|
617 bases |
Orientation:
|
plus strand |
|
Proteins
for C9orf53 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: NSGX_HUMAN, Q9UH64 (See
protein sequence)Recommended Name: Susceptibility protein NSG-x Size: 79 amino acids; 8851 Da
Secondary accessions: Q5VVJ4Explore the universe of human proteins at neXtProt for C9orf53: NX_Q9UH64
C9orf53 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000414893
Human Recombinant Protein Products for C9orf53:
C9orf53 Antibody Products:
Assay Products for C9orf53: |
Protein
Domains /
Families
for C9orf53 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9UH64 |
Function
for C9orf53 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Animal Models:
|
Pathways & Interactions
for C9orf53 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 C9orf53
|
Drugs & Compounds
for C9orf53 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 C9orf53
Search CenterWatch for drugs/clinical trials and news about C9orf53 / NSGX 
|
Transcripts
for C9orf53 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,
Sirion Biotech,
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 C9orf53 gene: NM_016349.1 Unigene Cluster for C9orf53: Chromosome 9 open reading frame 53 Hs.721053 [show with all ESTs]Unigene Representative Sequence: BX0913511 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000441769(uc011lnm.2)
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C9orf53
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C9orf53 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf53 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf53 |
Additional cDNA sequence: AF211119.1 NR_024274.1 2 DOTS entries: DT.305596 DT.99962274
GeneLoc Exon Structure
|
Expression
for C9orf53 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
| C9orf53 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See C9orf53 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf53
SOURCE GeneReport for Unigene cluster: Hs.721053
SABiosciences Custom PCR Arrays for C9orf53
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C9orf53
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C9orf53 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf53 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf53 |
Orthologs
for C9orf53 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 C9orf53 (if available)
TreeFam Gene Tree for C9orf53 (if available) |
Paralogs
for C9orf53 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C9orf53 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 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C9orf53 (21967137 - 21967753 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for C9orf53
4 CNVs: 95874 95873 82897 33079 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for C9orf53 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
|
C9orf53 for disorders About GeneDecksing
6  diseases for C9orf53: About MalaCardschronic lymphocytic leukemia lymphocytic leukemia myocardial infarction leukemia
dementia alzheimer's disease
Human Genome Epidemiology (HuGE) Navigator: C9orf53 (2 documents)
Export disorders for C9orf53 gene to outside databases
|
Publications
for C9orf53 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 C9orf53 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf53) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- The contribution of a 9p21.3 variant, a KIF6 variant, and C-reactive protein to predicting risk of myocardial infarction in a prospe ctive study. (PubMed id 21406102)1 Shiffman D....Psaty B.M. (2011)
- Six sequence variants on chromosome 9p21.3 are associ ated with a positive family history of myocardial infarction: a multicenter reg istry. (PubMed id 21385355)1 Scheffold T....Haltern G. (2011)
- Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (2010)
- Chromosome 9p21.3 genotype is associated with vascula r dementia and Alzheimer's disease. (PubMed id 19664850)1 Emanuele E....Politi P. (2009)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
|
External Searches for C9orf53 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C9orf53 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C9orf53 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C9orf53 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 C9orf53 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C9orf53 gene:
Search GeneIP for patents involving C9orf53
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C9orf53 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C9orf53 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C9orf53 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf53 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9orf53 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf53 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf53 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for C9orf53 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | C9orf53 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | | Search ThermoFisher Antibodies for C9orf53 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C9orf53 |
| |  | |
|
|
|
GeneCards Homepage -
Last full update: 19 Mar 2013 -
Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013
View Random Gene
|
Category
|
|
|
von Willebrand factor
|
| GIFtS Group |
|
Developed at the Crown Human Genome Center,
Department of Molecular Genetics,
the Weizmann Institute of Science
Copyright © 1996-2013
, Weizmann Institute of Science. All Rights Reserved.
hostname: 356980-web2.xennexinc.com
index build: 106 solr: 1.4
|
