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Aliases for CECR2 Gene

Aliases for CECR2 Gene

  • Cat Eye Syndrome Chromosome Region, Candidate 2 2 3
  • KIAA1740 4 6

External Ids for CECR2 Gene

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 (Cat Eye Syndrome Chromosome Region, Candidate 2) is a Protein Coding gene. Diseases associated with CECR2 include cat eye syndrome. An important paralog of this gene is KAT2A.

UniProtKB/Swiss-Prot for CECR2 Gene

  • Part of the CERF (CECR2-containing-remodeling factor) complex, which facilitates the perturbation of chromatin structure in an ATP-dependent manner. May be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CECR2 Gene

Genomics for CECR2 Gene

Genomic Location for CECR2 Gene

Start:
17,359,949 bp from pter
End:
17,558,149 bp from pter
Size:
198,201 bases
Orientation:
Plus strand

Genomic View for CECR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CECR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CECR2 Gene

Regulatory Elements 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. Interacts with acetylated lysine residues on histone H2A and H3 (in vitro). Interacts with LRPPRC.
    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
    SequenceCaution:
    • Sequence=CAH56122.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH56212.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW57756.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CECR2 Gene

    Alternative splice isoforms for CECR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CECR2 Gene

Proteomics data for CECR2 Gene at MOPED

Post-translational modifications for CECR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CECR2 Gene

No data available for DME Specific Peptides for CECR2 Gene

Domains for CECR2 Gene

Protein Domains for CECR2 Gene

UniProtKB/Swiss-Prot:

CECR2_HUMAN
Domain:
  • Contains 1 bromo domain.:
    • Q9BXF3
genes like me logo Genes that share domains with CECR2: view

No data available for Gene Families for CECR2 Gene

Function for CECR2 Gene

Molecular function for CECR2 Gene

UniProtKB/Swiss-Prot Function: Part of the CERF (CECR2-containing-remodeling factor) complex, which facilitates the perturbation of chromatin structure in an ATP-dependent manner. May be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis.

Gene Ontology (GO) - Molecular Function for CECR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12762840
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:

miRNA for CECR2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CECR2 Gene

Localization for CECR2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CECR2 Gene COMPARTMENTS Subcellular localization image for CECR2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CECR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12762840
GO:0005719 nuclear euchromatin IEA --
GO:0031010 ISWI-type complex --
GO:0090537 CERF complex IDA 15640247
genes like me logo Genes that share ontologies with CECR2: view

Pathways for CECR2 Gene

SuperPathways for CECR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CECR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis NAS 11827465
GO:0001842 neural fold formation IEA --
GO:0001843 neural tube closure IEA --
GO:0006309 apoptotic DNA fragmentation TAS 12762840
GO:0007010 cytoskeleton organization NAS 11827465
genes like me logo Genes that share ontologies with CECR2: view

No data available for Pathways by source for CECR2 Gene

Transcripts for CECR2 Gene

mRNA/cDNA for CECR2 Gene

(10) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CECR2 Gene

Cat eye syndrome chromosome region, candidate 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CECR2

Expression for CECR2 Gene

mRNA expression in normal human tissues for CECR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CECR2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.8), Brain - Cerebellum (6.4), and Muscle - Skeletal (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CECR2 Gene

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

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 36
  • 99.63 (n)
  • 99.44 (a)
CECR2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CECR2 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CECR2 36
  • 88.25 (n)
  • 88.67 (a)
CECR2 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cecr2 36
  • 83.06 (n)
  • 82.01 (a)
Cecr2 16
Cecr2 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CECR2 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 80 (a)
OneToMany
-- 37
  • 68 (a)
OneToMany
-- 37
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cecr2 36
  • 83.45 (n)
  • 82.61 (a)
chicken
(Gallus gallus)
Aves CECR2 36
  • 72.76 (n)
  • 72.78 (a)
CECR2 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CECR2 37
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr2 36
  • 56.75 (n)
  • 49.88 (a)
zebrafish
(Danio rerio)
Actinopterygii CECR2 37
  • 31 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dikar 37
  • 9 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT7 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToOne
Species with no ortholog for CECR2:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CECR2 Gene

Paralogs for CECR2 Gene

Selected SIMAP similar genes for CECR2 Gene using alignment to 6 proteins:

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

Variants for CECR2 Gene

Sequence variations from dbSNP and Humsavar for CECR2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs78914 -- 17,518,537(+) CAATA(G/T)GGACT intron-variant
rs113837 -- 17,551,859(+) tgtgc(A/G)tgcca intron-variant
rs174287 -- 17,489,562(+) acagt(C/T)ctccg intron-variant
rs174288 -- 17,494,347(+) ATGCC(C/T)GGCCA intron-variant
rs174289 -- 17,494,632(+) TCCCC(A/C)GTGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834118 CNV Loss 17160897
nsv526826 CNV Gain 19592680
nsv914149 CNV Gain 21882294
nsv428385 CNV Gain+Loss 18775914
nsv512644 CNV Loss 21212237
esv2667610 CNV Deletion 23128226
nsv820372 CNV Deletion 20802225
nsv828926 CNV Gain 20364138
esv2663280 CNV Deletion 23128226
nsv438324 CNV Loss 16468122
nsv9871 CNV Loss 18304495
nsv510802 CNV Loss 20534489
nsv914150 CNV Loss 21882294
nsv3553 CNV Loss 18451855

Relevant External Links for CECR2 Gene

HapMap Linkage Disequilibrium report
CECR2

Disorders for CECR2 Gene

(1) MalaCards Diseases for CECR2 Gene

Search for CECR2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for CECR2 Gene

Relevant External Links for CECR2

Genetic Association Database (GAD)
CECR2
Human Genome Epidemiology (HuGE) Navigator
CECR2
genes like me logo Genes that share disorders with CECR2: view

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

Publications for CECR2 Gene

  1. 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 T.K. … McDermid H.E. (Genome Res. 2001) 2 3 4
  2. 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 W.L. (Genomics 2002) 3 4
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. (PMID: 15640247) Banting G.S. … Shiekhattar R. (Hum. Mol. Genet. 2005) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for CECR2 Gene

Sources for CECR2 Gene

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