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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
- NCBI Entrez Gene: 27443
- Ensembl: ENSG00000099954
- OMIM®: 607576
- UniProtKB/Swiss-Prot: 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 BPTF.
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)
- NCBI Entrez Gene (27443)
- Ensembl (ENSG00000099954)
- OMIM® (607576)
- UniProtKB/Swiss-Prot (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
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH22J017359 | Enhancer | 0.8 | Ensembl | 250.7 | -0.2 | -164 | 0.4 | IKZF1 VEZF1 GABPA TAL1 FOSL1 SMARCA4 PKNOX1 FOXM1 TCF12 MTA2 | CECR2 MK280144-447 ADA2 | |
| GH22J017357 | Enhancer | 0.4 | Ensembl ENCODE | 255.5 | -1.8 | -1848 | 0.6 | EZH2 | CECR2 MK280144-447 ADA2 | |
| GH22J017456 | Promoter | 0.3 | EPDnew | 261.1 | +96.3 | 96346 | 0.1 | CECR2 lnc-ATP6V1E1-4 piR-30791-062 piR-35312-022 RF00017-3742 SLC25A18 | ||
| GH22J017358 | Enhancer | 0.3 | Ensembl | 250.7 | -1.2 | -1248 | 0.2 | EZH2 | CECR2 MK280144-447 ADA2 | |
| GH22J017216 | Promoter/Enhancer | 1.6 | EPDnew FANTOM5 Ensembl ENCODE | 11.4 | -140.9 | -140930 | 5.7 | BCL11A SP1 GABPA EBF1 SMARCA5 MAX SPI1 BHLHE40 BATF POLR2A | ADA2 piR-43105-414 CECR3 CECR2 ATP6V1E1 BCL2L13 IL17RA lnc-IL17RA-34 HDHD5 |
- 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
Latest Assembly
- chr22:17,359,949-17,558,151
- (GRCh38/hg38)
- Size:
- 198,203 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:17,840,839-18,037,852
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 197,014 bases
- Orientation:
- Plus strand
- chr22:17,840,837-18,037,850
- (GRCh37/hg19 by Ensembl)
- 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
Antibodies for research
- Novus Biologicals Antibodies for CECR2
- Invitrogen Antibodies for CECR2 (AFLGC-CECR2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CECR2
Protein products for research
- 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
Assay products for research
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 Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CECR2 - Starting at $85 >
- * CECR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for CECR2 - Starting at $45 >
- * CECR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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 Lines for research
-
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 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000791 | euchromatin | IEA | -- |
| GO:0005634 | nucleus | IDA | 12762840 |
| 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 :
-
- ENST00000262608 4783 nts (view in UCSC)
- ENST00000342247 6178 nts (view in UCSC)
- ENST00000355219 2144 nts (view in UCSC)
- ENST00000400585 4833 nts (view in UCSC)
- ENST00000497534 596 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CECR2 - Starting at $85 >
- * CECR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for CECR2 - Starting at $45 >
- * CECR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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 for research
-
OriGene qPCR primer pairs for CECR2
Gene Expression Assays for research
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 |
|---|---|---|---|---|---|
| rs10427665 | Benign: not provided | 17,548,287(+) |
A/G NM_001290046.1(CECR2):c.2508A>G (p.Thr836=) |
SYNONYMOUS | |
| rs114626178 | Benign: not provided | 17,542,684(+) |
C/T NM_001290046.1(CECR2):c.2052C>T (p.Ala684=) |
SYNONYMOUS | |
| rs143595262 | Benign: not provided | 17,524,110(+) |
C/T NM_001290046.1(CECR2):c.466-8C>T |
INTRON | |
| rs146231898 | Benign: not provided | 17,549,256(+) |
G/A NM_001290046.1(CECR2):c.3477G>A (p.Pro1159=) |
SYNONYMOUS | |
| rs182143214 | Benign: not provided | 17,548,476(+) |
T/C NM_001290046.1(CECR2):c.2697T>C (p.Pro899=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- 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
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Sources for CECR2 Gene
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