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This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefS... See more...
Aliases for CECR2 Gene
Aliases for CECR2 Gene
External Ids for CECR2 Gene
- HGNC: 1840
- Entrez Gene: 27443
- Ensembl: ENSG00000099954
- OMIM: 607576
- UniProtKB: Q9BXF3
Previous GeneCards Identifiers for CECR2 Gene
- GC22P014900
- GC22P016331
- GC22P016328
- GC22U900292
- GC22P017840
- GC22P001668
Summaries for CECR2 Gene
-
This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
GeneCards Summary for CECR2 Gene
CECR2 (CECR2 Histone Acetyl-Lysine Reader) is a Protein Coding gene. Diseases associated with CECR2 include Cat Eye Syndrome and Neural Tube Defects. An important paralog of this gene is BAZ2B.
UniProtKB/Swiss-Prot Summary for CECR2 Gene
-
Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465).
Additional gene information for CECR2 Gene
- HGNC(1840)
- Entrez Gene(27443)
- Ensembl(ENSG00000099954)
- OMIM(607576)
- UniProtKB(Q9BXF3)
- Open Targets Platform(ENSG00000099954)
- Search for CECR2 at DataMed
- Search for CECR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CECR2 Gene
Genomics for CECR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CECR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CECR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CECR2
- Top Transcription factor binding sites by QIAGEN in the CECR2 gene promoter:
-
- ATF-2
- HNF-1
- HNF-1A
- Meis-1
- Meis-1a
- Meis-1b
- p300
- PPAR-alpha
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for CECR2 Gene
Genomic Locations for CECR2 Gene
- chr22:17,359,949-17,558,155
- (GRCh38/hg38)
- Size:
- 198,207 bases
- Orientation:
- Plus strand
- chr22:17,840,837-18,037,850
- (GRCh37/hg19)
- Size:
- 197,014 bases
- Orientation:
- Plus strand
Genomic View for CECR2 Gene
Genes around CECR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.1-q11.21 by HGNC
- 22q11.1-q11.21 by Entrez Gene
- 22q11.1 by Ensembl
CECR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CECR2 Gene
Proteins for CECR2 Gene
-
Protein details for CECR2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BXF3-CECR2_HUMAN
- Recommended name:
- Cat eye syndrome critical region protein 2
- Protein Accession:
- Q9BXF3
- A8MS90
- A8MX16
- Q658Z4
- Q96P58
- Q9C0C3
Protein attributes for CECR2 Gene
- Size:
- 1484 amino acids
- Molecular mass:
- 164213 Da
- Quaternary structure:
-
- Part of the CECR2-containing remodeling factor (CERF) complex which contains CECR2 and SMARCA1 (PubMed:15640247). Interacts with acetylated lysine residues on histone H2A and H3 (in vitro) (PubMed:26365797, PubMed:22464331). Interacts with LRPPRC (PubMed:11827465).
- SequenceCaution:
-
- Sequence=CAH56122.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH56212.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAW57756.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by 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 mental development.
Protein Expression for CECR2 Gene
Post-translational modifications for CECR2 Gene
Other Protein References for CECR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CECR2
- Invitrogen Antibodies for CECR2 (AFLGC-CECR2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CECR2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CECR2
- Origene Custom Protein Services for CECR2
- Novus Biologicals proteins for CECR2
-
Abcam proteins for CECR2
No data available for DME Specific Peptides for CECR2 Gene
Domains & Families for CECR2 Gene
Gene Families for CECR2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CECR2 Gene
- InterPro:
- Blocks:
-
- Bromodomain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CECR2 Gene
- GenScript: Design optimal peptide antigens:
-
- Cat eye syndrome critical region protein 2 (CECR2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BXF3UniProtKB/Swiss-Prot:
CECR2_HUMAN :- The Bromo domain recognizes and binds acetylated histones (PubMed:22464331). Also recognizes and binds histones that are butyrylated (PubMed:26365797).
- Domain:
-
- The Bromo domain recognizes and binds acetylated histones (PubMed:22464331). Also recognizes and binds histones that are butyrylated (PubMed:26365797).
Function for CECR2 Gene
Molecular function for CECR2 Gene
- UniProtKB/Swiss-Prot Function:
- Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465).
Phenotypes From GWAS Catalog for CECR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for CECR2 Gene
- MGI mutant phenotypes for CECR2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CECR2:
Animal Models for CECR2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CECR2 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for CECR2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for CECR2
miRNA for CECR2 Gene
- miRTarBase miRNAs that target CECR2
-
- mmu-miR-758-3p (MIRT007521)
- mmu-miR-9-5p (MIRT015380)
- hsa-miR-1296-5p (MIRT036153)
- hsa-miR-484 (MIRT041997)
- hsa-miR-151a-3p (MIRT043615)
- hsa-miR-29b-3p (MIRT048371)
- hsa-miR-6880-5p (MIRT514001)
- hsa-miR-6745 (MIRT514002)
- hsa-miR-363-5p (MIRT514003)
- hsa-miR-608 (MIRT514004)
- hsa-miR-4651 (MIRT514005)
- hsa-miR-6081 (MIRT514006)
- hsa-miR-6716-5p (MIRT514007)
- hsa-miR-3665 (MIRT514008)
- hsa-miR-3160-3p (MIRT514009)
- hsa-miR-125a-3p (MIRT514010)
- hsa-miR-6782-5p (MIRT514011)
- hsa-miR-3936 (MIRT514012)
- hsa-miR-4271 (MIRT538560)
- hsa-miR-3978 (MIRT538561)
- hsa-miR-877-5p (MIRT538562)
- hsa-miR-766-5p (MIRT538563)
- hsa-miR-1253 (MIRT538564)
- hsa-miR-520g-5p (MIRT538565)
- hsa-miR-3614-5p (MIRT538566)
- hsa-miR-6859-5p (MIRT538567)
- hsa-miR-3916 (MIRT538568)
- hsa-miR-3125 (MIRT538569)
- hsa-miR-890 (MIRT538570)
- hsa-miR-4311 (MIRT538571)
- hsa-miR-520b (MIRT538572)
- hsa-miR-520c-3p (MIRT538573)
- hsa-miR-520d-3p (MIRT538574)
- hsa-miR-520a-3p (MIRT538575)
- hsa-miR-302a-3p (MIRT538576)
- hsa-miR-302b-3p (MIRT538577)
- hsa-miR-302c-3p (MIRT538578)
- hsa-miR-302d-3p (MIRT538579)
- hsa-miR-302e (MIRT538580)
- hsa-miR-373-3p (MIRT538581)
- hsa-miR-372-3p (MIRT538582)
- hsa-miR-520e (MIRT538583)
- mmu-miR-539-3p (MIRT584334)
- mmu-miR-381-3p (MIRT584335)
- mmu-miR-338-5p (MIRT584336)
- mmu-miR-669f-3p (MIRT584337)
- mmu-miR-466l-3p (MIRT584338)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CECR2
- Browse OriGene Inhibitory RNA Products For CECR2
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Clone Products
- Applied Biological Materials (abm): Clones for CECR2 - Select products 50% OFF >
- * CECR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CECR2
- Addgene plasmids for CECR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CECR2
Cell Line Products
-
Horizon Cell Lines for CECR2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CECR2 Gene
Localization for CECR2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 12762840 |
| GO:0005719 | nuclear euchromatin | IEA,IBA | 21873635 |
| GO:0031010 | ISWI-type complex | IEA | -- |
| GO:0090537 | CERF complex | IEA,IDA | 15640247 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CECR2 Gene
Pathways & Interactions for CECR2 Gene
Interacting Proteins for CECR2 Gene
GPS-Prot Interaction Network for CECR2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001842 | neural fold formation | IEA | -- |
| GO:0001843 | neural tube closure | IEA | -- |
| GO:0006309 | apoptotic DNA fragmentation | TAS | 12762840 |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0007010 | cytoskeleton organization | NAS | 11827465 |
No data available for Pathways by source and SIGNOR curated interactions for CECR2 Gene
Transcripts for CECR2 Gene
mRNA/cDNA for CECR2 Gene
- 3 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000400585 4833 nts (view in UCSC)
- ENST00000497534 596 nts (view in UCSC)
- ENST00000612582 9645 nts (view in UCSC)
- ENST00000355219 2144 nts (view in UCSC)
- ENST00000342247 6178 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CECR2 - Select products 50% OFF >
- * CECR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CECR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CECR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CECR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CECR2
- Browse OriGene Inhibitory RNA Products For CECR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CECR2
Clone Products
- Applied Biological Materials (abm): Clones for CECR2 - Select products 50% OFF >
- * CECR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CECR2
- Addgene plasmids for CECR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CECR2
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: |
Relevant External Links for CECR2 Gene
- GeneLoc Exon Structure for
- CECR2
Expression for CECR2 Gene
mRNA differential expression in normal tissues according to GTEx for CECR2 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.8), Brain - Cerebellum (x6.4), and Muscle - Skeletal (x5.5).
This gene is overexpressed in Heart (62.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CECR2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CECR2
SOURCE GeneReport for Unigene cluster for CECR2 Gene:
Hs.658723mRNA Expression by UniProt/SwissProt for CECR2 Gene:
Q9BXF3-CECR2_HUMAN
Tissue specificity:
Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.
Evidence on tissue expression from TISSUES for CECR2 Gene
- Nervous system(4.5)
- Muscle(4.4)
- Liver(4.3)
Primer Products
-
OriGene qPCR primer pairs for CECR2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CECR2 Gene
Orthologs for CECR2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CECR2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CECR2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cecr2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cecr2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | CECR2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CECR2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CECR2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CECR2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cecr2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CECR2 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | dikar 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPT7 33 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for CECR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CECR2 Gene
- ENSEMBL:
- Gene Tree for CECR2 (if available)
- TreeFam:
- Gene Tree for CECR2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CECR2: view image
Paralogs for CECR2 Gene
Paralogs for CECR2 Gene
(3) SIMAP similar genes for CECR2 Gene using alignment to 6 proteins:
- CECR2_HUMAN
- B7WPH3_HUMAN
- E2QRE6_HUMAN
- H0Y2Z1_HUMAN
- H7BXW8_HUMAN
- L8E8W0_HUMAN
Variants for CECR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CECR2 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 717121 | Likely Benign: not provided | 17,542,187(+) | C/A | MISSENSE_VARIANT | |
| 731817 | Benign: not provided | 17,542,371(+) | C/T | MISSENSE_VARIANT | |
| 731818 | Benign: not provided | 17,549,256(+) | G/A | SYNONYMOUS_VARIANT | |
| 740092 | Likely Benign: not provided | 17,542,825(+) | C/T | SYNONYMOUS_VARIANT | |
| 746356 | Likely Benign: not provided | 17,548,949(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1445753 | CNV | insertion | 17803354 |
| esv1698398 | CNV | insertion | 17803354 |
| esv2102074 | CNV | deletion | 18987734 |
| esv2392011 | CNV | deletion | 18987734 |
| esv2575631 | CNV | deletion | 19546169 |
| esv2658171 | CNV | deletion | 23128226 |
| esv2677375 | CNV | deletion | 23128226 |
| esv2723948 | CNV | deletion | 23290073 |
| esv2723949 | CNV | deletion | 23290073 |
| esv3366021 | CNV | duplication | 20981092 |
| esv3557896 | CNV | deletion | 23714750 |
| esv3557897 | CNV | deletion | 23714750 |
| esv3647218 | CNV | loss | 21293372 |
| esv3647219 | CNV | loss | 21293372 |
| esv3647220 | CNV | loss | 21293372 |
| esv3647221 | CNV | loss | 21293372 |
| esv3893427 | CNV | gain | 25118596 |
| esv4131 | CNV | loss | 18987735 |
| esv7333 | CNV | loss | 19470904 |
| nsv1114305 | CNV | deletion | 24896259 |
| nsv3553 | CNV | deletion | 18451855 |
| nsv428385 | CNV | gain+loss | 18775914 |
| nsv438324 | CNV | loss | 16468122 |
| nsv459335 | CNV | gain | 19166990 |
| nsv510802 | CNV | deletion | 20534489 |
| nsv513582 | CNV | insertion | 21212237 |
| nsv513583 | CNV | insertion | 21212237 |
| nsv526826 | CNV | gain | 19592680 |
| nsv588099 | CNV | gain | 21841781 |
| nsv834118 | CNV | loss | 17160897 |
| nsv9871 | CNV | loss | 18304495 |
Gene Damage Index Score:
10.68;
91.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CECR2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CECR2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CECR2 Gene
Disorders for CECR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cat eye syndrome |
|
|
| neural tube defects |
|
|
Search CECR2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CECR2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CECR2 Gene
Publications for CECR2 Gene
- A Subset of Human Bromodomains Recognizes Butyryllysine and Crotonyllysine Histone Peptide Modifications. (PMID: 26365797) Flynn EM … Cochran AG (Structure (London, England : 1993) 2015) 2 3 4
- CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. (PMID: 15640247) Banting GS … Shiekhattar R (Human molecular genetics 2005) 2 3 4
- 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. (PMID: 11381032) Footz TK … McDermid HE (Genome research 2001) 2 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. (PMID: 11827465) Liu L … McKeehan WL (Genomics 2002) 3 4
ExternalLinks
Products for CECR2 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
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- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CECR2
- Origene Custom Protein Services for CECR2
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- Sino Biological Human cDNA Clone for CECR2
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- VectorBuilder CRISPR vectors for CECR2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CECR2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CECR2
- Addgene plasmids for CECR2
- antibodies-online: Show 3 available CECR2 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CECR2
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Sources for CECR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB