CECR5 Gene
protein-coding GIFtS: 49
GCID: GC22M017618
|
|
cat eye syndrome chromosome region, candidate 5
| |
Aliases
for CECR5 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 51 2 | | Cat Eye Syndrome Critical Region Protein 52 |
Export aliases for CECR5 gene to outside databasesPrevious GC identifers: GC22M014562 GC22M015992 GC22M001437 |
Summaries
for CECR5 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 CECR5 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 CECR5 gene promoter:
PPAR-alpha MEF-2A MEF-2 CP1C aMEF-2 CUTL1 NF-Y
Other transcription factors
Search SABiosciences Chromatin IP Primers for CECR5
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CECR5 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Ensembl cytogenetic band: 22q11.1 HGNC cytogenetic band: 22q11.2CECR5 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 GC22M017618: view genomic region
(about GC identifiers)
Start:
|
17,618,401 bp from pter |
End:
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17,646,177 bp from pter |
Size:
|
27,777 bases |
Orientation:
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minus strand |
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Proteins
for CECR5 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: CECR5_HUMAN, Q9BXW7 (See
protein sequence)Recommended Name: Cat eye syndrome critical region protein 5 precursor Size: 423 amino acids; 46321 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: B2RCK5 Q9BXW8 Q9NWA8 Q9NX41Alternative splicing: 2 isoforms: Q9BXW7-1 Q9BXW7-2 Explore the universe of human proteins at neXtProt for CECR5: NX_Q9BXW7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BXW7
CECR5 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_060299.4 NP_149061.1
ENSEMBL proteins: ENSP00000155674 ENSP00000337358 ENSP00000382745
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:0005739 | mitochondrion |
IEA | -- |
CECR5 for ontologies About GeneDecksing
CECR5 Antibody Products:
Assay Products for CECR5: |
Protein
Domains /
Families
for CECR5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CECR5 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BXW7ProtoNet protein and cluster: Q9BXW7 |
Function
for CECR5 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
|
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 CECR5 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (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): CECR5 (NM_017829) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CECR5 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR5 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5 |
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:0016787 | hydrolase activity |
IEA | -- |
CECR5 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for CECR5:
|
Pathways & Interactions
for CECR5 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 CECR5
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
5/239 Interacting proteins for CECR5 (Q9BXW72, 3 ENSP000003373584) via UniProtKB, MINT, STRING, and/or I2D (see all 239)About this table
|
Drugs & Compounds
for CECR5 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 CECR5
Search CenterWatch for drugs/clinical trials and news about CECR5
|
Transcripts
for CECR5 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 CECR5 gene (2 alternative transcripts): NM_017829.5 NM_033070.2 Unigene Cluster for CECR5: Cat eye syndrome chromosome region, candidate 5 Hs.26890 [show with all ESTs]Unigene Representative Sequence: BF5691037 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000155674(uc002zmh.3) ENST00000336737(uc002zmf.3) ENST00000477157
ENST00000399852 ENST00000486462 ENST00000463033 ENST00000480451
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (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): CECR5 (NM_017829) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CECR5 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR5 |
Additional cDNA sequence: AF273270.1 AF273271.1 AK000461.1 AK001034.1 AK315156.1 BC042540.1 24 DOTS entries: DT.112927 DT.100852681 DT.100771259 DT.120669515 DT.100720235 DT.97847546 DT.95227384 DT.92431464 DT.100658701 DT.100852677 DT.120669521 DT.120669531 DT.121643286 DT.100852674 DT.100674404 DT.100806598 DT.100852676 DT.120669536 DT.120669580 DT.120669596 DT.121643287 DT.92024715 DT.95250294 DT.92411078 24/303 AceView cDNA sequences (see all 303): AI498215 BG575171 AI365586 BC042540 BF515203 CR622021 BF001237 CR622420 BM471006 CR596430 CR608179 CA425852 NM_017829 CB049115 BM824091 CR606299 BM906340 BU584141 BM701492 BF805201 BU726516 AI540131 AI391516 AA317500
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CECR5 (see all 7) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | - | | - | | - | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | - | | | | - | | | | | | - | | - | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | - | | | | | | - | | - | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CECR5
|
Expression
for CECR5 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
| CECR5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCCTGTCG
About this image
See CECR5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CECR5
SOURCE GeneReport for Unigene cluster: Hs.26890
UniProtKB/Swiss-Prot: CECR5_HUMAN, Q9BXW7Tissue specificity: Widely expressed
SABiosciences Custom PCR Arrays for CECR5
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR5
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CECR5 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR5 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CECR5 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5 |
Orthologs
for CECR5 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
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for CECR5 gene from 10/26 species (see all 26) About this table
ENSEMBL Gene Tree for CECR5 (if available)
TreeFam Gene Tree for CECR5 (if available) |
Paralogs
for CECR5 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for CECR5 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 |
|---|
HapMap Linkage Disequilibrium report for CECR5 (17618401 - 17646177 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CECR5
1 CNV: 73694
1 Indel: 27013
Human Gene Mutation Database (HGMD): CECR5
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CECR5 |
|
Disorders
/ Diseases
for CECR5 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
|
CECR5 for disorders About GeneDecksing
4  diseases for CECR5: About MalaCardscat eye syndrome coloboma of iris coloboma prostatitis
Human Genome Epidemiology (HuGE) Navigator: CECR5 (1 document)
Export disorders for CECR5 gene to outside databases
|
Publications
for CECR5 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 CECR5 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with CECR5) | |  | 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)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin. (PubMed id 15862967)1 Pope S.N. and Lee I.R. (2005)
|
External Searches for CECR5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CECR5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CECR5 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CECR5 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 CECR5 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CECR5 gene:
Search GeneIP for patents involving CECR5
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CECR5 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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CECR5 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CECR5 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR5 | | | OriGene Protein Over-expression Lysate for CECR5 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CECR5 | | OriGene 3'-UTR Clone for CECR5 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 | | | 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 | | | OriGene Purified Protein for CECR5 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CECR5 | | OriGene Custom Protein Services for CECR5 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CECR5 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CECR5 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CECR5 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR5 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CECR5 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR5 |
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 | | | CECR5 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5 |
|  |  |  | | | | Search ThermoFisher Antibodies for CECR5 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR5 |
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