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

  • CECR2 Histone Acetyl-Lysine Reader 2 3 5
  • Cat Eye Syndrome Chromosome Region, Candidate 2 2 3
  • Cat Eye Syndrome Critical Region Protein 2 3 4
  • KIAA1740 2 4
  • CECR2 5

External Ids for CECR2 Gene

Previous GeneCards Identifiers for CECR2 Gene

  • GC22P014900
  • GC22P016331
  • GC22P016328
  • GC22U900292
  • GC22P017840
  • GC22P001668

Summaries for CECR2 Gene

Entrez Gene Summary 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).

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:
CECR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CECR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CECR2 Gene

    Alternative splice isoforms for CECR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CECR2 Gene

Post-translational modifications for CECR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Q9BXF3

UniProtKB/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).
genes like me logo Genes that share domains with CECR2: view

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

Gene Ontology (GO) - Molecular Function for CECR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CECR2: view
genes like me logo Genes that share phenotypes with CECR2: view

Animal Models for CECR2 Gene

MGI Knock Outs for CECR2:
  • Cecr2 Cecr2<tm1.1Hemc>
  • Cecr2 Cecr2<tm2b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CECR2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CECR2 Gene

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
genes like me logo Genes that share ontologies with CECR2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CECR2 Gene

Pathways & Interactions for CECR2 Gene

PathCards logo

SuperPathways for CECR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CECR2 Gene

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
genes like me logo Genes that share ontologies with CECR2: view

No data available for Pathways by source and SIGNOR curated interactions for CECR2 Gene

Drugs & Compounds for CECR2 Gene

No Compound Related Data Available

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CECR2

Alternative Splicing Database (ASD) splice patterns (SP) for CECR2 Gene

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 expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Protein differential expression in normal tissues from HIPED for CECR2 Gene

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



Protein tissue co-expression partners for CECR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CECR2

SOURCE GeneReport for Unigene cluster for CECR2 Gene:

Hs.658723

mRNA 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)
genes like me logo Genes that share expression patterns with CECR2: view

Primer products 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.

Orthologs for CECR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CECR2 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CECR2 30 31
  • 88.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cecr2 30
  • 83.45 (n)
Mouse
(Mus musculus)
Mammalia Cecr2 30 17 31
  • 83.06 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CECR2 31
  • 74 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CECR2 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CECR2 30 31
  • 72.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CECR2 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cecr2 30
  • 56.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii CECR2 31
  • 31 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dikar 31
  • 9 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT7 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
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
genes like me logo Genes that share paralogs with CECR2: view

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CECR2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CECR2 Gene

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

Variation tolerance for CECR2 Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for CECR2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with CECR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CECR2 Gene

Publications for CECR2 Gene

  1. 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
  2. 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
  3. 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
  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
  5. 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

Products for CECR2 Gene

Sources for CECR2 Gene