CECR6 Gene
protein-coding GIFtS: 38
GCID: GC22M017597
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cat eye syndrome chromosome region, candidate 6
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Aliases
for CECR6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cat Eye Syndrome Chromosome Region, Candidate 61 2 | | Cat Eye Syndrome Critical Region Protein 62 |
Export aliases for CECR6 gene to outside databasesPrevious GC identifers: GC22M014541 GC22M015971 GC22M001417 |
Summaries
for CECR6 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 CECR6 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_000022.10 NC_018933.1 NT_011519.10
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CECR6 gene promoter:
Max1 SRF NF-1 NF-1/L Elk-1 SRF (504 AA) NRSF form 1 CUTL1 NRSF form 2 GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CECR6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CECR6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Ensembl cytogenetic band: 22q11.1 HGNC cytogenetic band: 22q11.2CECR6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M017597: view genomic region
(about GC identifiers)
Start:
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17,597,189 bp from pter |
End:
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17,602,257 bp from pter |
Size:
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5,069 bases |
Orientation:
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minus strand |
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Proteins
for CECR6 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: CECR6_HUMAN, Q9BXQ6 (See
protein sequence)Recommended Name: Cat eye syndrome critical region protein 6 Size: 578 amino acids; 58425 Da
Miscellaneous: Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplicationof a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentricchromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinicallyby the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures,preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mentaldevelopment
Secondary accessions: A8MYY1Alternative splicing: 2 isoforms: Q9BXQ6-1 Q9BXQ6-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CECR6: NX_Q9BXQ6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BXQ6
CECR6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001156551.1 NP_114096.1
ENSEMBL proteins: ENSP00000382764 ENSP00000329318
Human Recombinant Protein Products for CECR6:
CECR6 Antibody Products:
Assay Products for CECR6: |
Protein
Domains /
Families
for CECR6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CECR6 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BXQ6ProtoNet protein and cluster: Q9BXQ6 |
Function
for CECR6 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:
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 CECR6 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR6 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): CECR6 (NM_031890) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CECR6 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CECR6 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR6 |
|
Pathways & Interactions
for CECR6 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 CECR6
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for CECR6 (Q9BXQ63 ENSP000003293184) via UniProtKB, MINT, STRING, and/or I2DAbout this table
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Drugs & Compounds
for CECR6 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 CECR6
Search CenterWatch for drugs/clinical trials and news about CECR6
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Transcripts
for CECR6 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 CECR6 gene (2 alternative transcripts): NM_001163079.1 NM_031890.3 Unigene Cluster for CECR6: Cat eye syndrome chromosome region, candidate 6 Hs.209577 [show with all ESTs]Unigene Representative Sequence: NM_0318902 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000399875(uc002zma.2) ENST00000331437(uc002zmb.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR6 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR6 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): CECR6 (NM_031890) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CECR6 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CECR6 |
Additional cDNA sequence: AF307451.1 AK055398.1 AK095437.1 AK095609.1 2 DOTS entries: DT.412498 DT.99999920 24/45 AceView cDNA sequences (see all 45): AK055398 BE702731 NM_031890 BP345568 AA780488 AF307451 BQ006940 BP345541 BE670568 BX503272 AK095437 AI797620 AI355909 AA774312 BQ437215 AI088824 AI149772 AA010607 Z44561 AA351677 BQ108580 T08365 BE206767 BX090518
GeneLoc Exon Structure
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Expression
for CECR6 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
| CECR6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTGATTCT
About this image
See CECR6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CECR6
SOURCE GeneReport for Unigene cluster: Hs.209577
UniProtKB/Swiss-Prot: CECR6_HUMAN, Q9BXQ6Tissue specificity: Widely expressed, especially in adult heart, brain, prostate, testes, peripherical blood leukocytesand fetal brain
SABiosciences Custom PCR Arrays for CECR6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CECR6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CECR6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR6 |
Orthologs
for CECR6 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
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This gene was present in the common ancestor of chordates.
Orthologs for CECR6 gene from 3/8 species (see all 8) About this table
ENSEMBL Gene Tree for CECR6 (if available)
TreeFam Gene Tree for CECR6 (if available) |
Paralogs
for CECR6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for CECR6 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 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for CECR6 (17597189 - 17602257 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CECR6: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CECR6 |
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Disorders
/ Diseases
for CECR6 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
|
CECR6 for disorders About GeneDecksing
6  diseases for CECR6: About MalaCardscat eye syndrome coloboma of iris coloboma hepatitis b
hepatitis prostatitis
Human Genome Epidemiology (HuGE) Navigator: CECR6 (1 document)
Export disorders for CECR6 gene to outside databases
|
Publications
for CECR6 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 CECR6 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CECR6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PubMed id 11381032)1, 2, 3 Footz T.K....McDermid H.E. (2001)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. (PubMed id 19336002)1 Zhou W....Zhang L. (2009)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)
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External Searches for CECR6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing CECR6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CECR6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CECR6 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 CECR6 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for CECR6 gene:
Search GeneIP for patents involving CECR6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CECR6 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
|
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 | |
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CECR6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CECR6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR6 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CECR6 | | OriGene 3'-UTR Clone for CECR6 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR6 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CECR6 | | OriGene Custom Protein Services for CECR6 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CECR6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CECR6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CECR6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CECR6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR6 |
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| | | | Search Tocris compounds for CECR6 |
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 | | | CECR6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR6 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for CECR6 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CECR6 |
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