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    CECR2 CECR2 histone acetyl-lysine reader [ Homo sapiens (human) ]

    Gene ID: 27443, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CECR2provided by HGNC
    Official Full Name
    CECR2 histone acetyl-lysine readerprovided by HGNC
    Primary source
    HGNC:HGNC:1840
    See related
    Ensembl:ENSG00000099954 MIM:607576; AllianceGenome:HGNC:1840
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 2.7), testis (RPKM 2.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CECR2 in Genome Data Viewer
    Location:
    22q11.1-q11.21
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17359949..17558151)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18027656..18225897)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17840839..18037852)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17741695-17742280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17744419-17745245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17745246-17746072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17750393-17751381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13436 Neighboring gene NANOG hESC enhancer GRCh37_chr22:17764354-17764855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17768852-17769352 Neighboring gene cat eye syndrome chromosome region, candidate 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17787810-17788548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17788549-17789287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62410 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17811413-17811590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17812630-17813130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17813131-17813631 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62420 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17822020-17822264 Neighboring gene Sharpr-MPRA regulatory region 13223 Neighboring gene RNA, 7SL, cytoplasmic 843, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17855418-17856368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17856369-17857317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17859097-17859774 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62431 Neighboring gene NANOG hESC enhancer GRCh37_chr22:17860543-17861103 Neighboring gene TERF2 interacting protein pseudogene 1 Neighboring gene MPRA-validated peak4447 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17914611-17915170 Neighboring gene Charcot-Leyden crystal protein pseudogene 1 Neighboring gene MPRA-validated peak4449 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17944405-17945163 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:17954710-17955263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17973322-17973938 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 614 Neighboring gene uncharacterized LOC105372850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18048734-18049485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18049486-18050236 Neighboring gene uncharacterized LOC101929372 Neighboring gene solute carrier family 25 member 18

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide screen of human bromodomain-containing proteins identifies Cecr2 as a novel DNA damage response protein. Lee SK, et al. Mol Cells, 2012 Jul. PMID 22699752, Free PMC Article
    2. A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. Córdova-Fletes C, et al. Mol Syndromol, 2012 Sep. PMID 23112755, Free PMC Article
    3. A novel tumor suppressor CECR2 down regulation links glutamine metabolism contributes tumor growth in laryngeal squamous cell carcinoma. Wang X, et al. Clin Transl Oncol, 2021 Sep. PMID 33826083
    4. NMR Analyses of Acetylated H2A.Z Isoforms Identify Differential Binding Interactions with the Bromodomain of the NURF Nucleosome Remodeling Complex. Olson NM, et al. Biochemistry, 2020 May 26. PMID 32356653, Free PMC Article
    5. Chromatin remodelling in mammalian cells by ISWI-type complexes--where, when and why? Erdel F, et al. FEBS J, 2011 Oct. PMID 21810179

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CECR2 drives breast cancer metastasis by promoting NF-kappaB signaling and macrophage-mediated immune suppression.
      Title: CECR2 drives breast cancer metastasis by promoting NF-κB signaling and macrophage-mediated immune suppression.
    2. A novel tumor suppressor CECR2 down regulation links glutamine metabolism contributes tumor growth in laryngeal squamous cell carcinoma.
      Title: A novel tumor suppressor CECR2 down regulation links glutamine metabolism contributes tumor growth in laryngeal squamous cell carcinoma.
    3. Discovery of a hidden transient state in all bromodomain families.
      Title: Discovery of a hidden transient state in all bromodomain families.
    4. NMR Analyses of Acetylated H2A.Z Isoforms Identify Differential Binding Interactions with the Bromodomain of the NURF Nucleosome Remodeling Complex.
      Title: NMR Analyses of Acetylated H2A.Z Isoforms Identify Differential Binding Interactions with the Bromodomain of the NURF Nucleosome Remodeling Complex.
    5. The bromodomains of BRD9, CECR2, and the second bromodomain of TAF1 recognize the longer butyryl mark on histones. In addition, the TAF1 second bromodomain is capable of binding crotonyl marks.
      Title: A Subset of Human Bromodomains Recognizes Butyryllysine and Crotonyllysine Histone Peptide Modifications.
    6. The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for cat eye syndrome (CES), may be responsible for anorectal, renal and preauricular anomalies in patients with CES.
      Title: A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
    7. Cecr2 is important for gamma-H2AX formation and DNA double strand break repair, Cecr2 is a novel DNA damage response protein.
      Title: Genome-wide screen of human bromodomain-containing proteins identifies Cecr2 as a novel DNA damage response protein.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1740

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP-dependent chromatin remodeler activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic DNA fragmentation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cytoskeleton-dependent cytokinesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in execution phase of apoptosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural fold formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of CERF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of CERF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of CERF complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in euchromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    chromatin remodeling regulator CECR2
    Names
    cat eye syndrome chromosome region, candidate 2
    cat eye syndrome critical region protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033989.1 RefSeqGene

      Range
      14512..203203
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290046.2 → NP_001276975.1  chromatin remodeling regulator CECR2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5'-terminal exon and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC007666, AF336133, AK308330, AL832377
      Consensus CDS
      CCDS77646.1
      UniProtKB/TrEMBL
      A0A0R4J2E1, B7WPH3
      Related
      ENSP00000383428.2, ENST00000400585.7
      Conserved Domains (2) summary
      cd05509
      Location:255 → 355
      Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long ...
      pfam15614
      Location:81 → 121
      WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

    2. NM_001290047.2 → NP_001276976.1  chromatin remodeling regulator CECR2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007666, AF336133, AK308330, AL832377, FO681548
      Consensus CDS
      CCDS93111.1
      UniProtKB/Swiss-Prot
      A8MS90, A8MX16, Q658Z4, Q96P58, Q9BXF3, Q9C0C3
      Related
      ENSP00000262608.11, ENST00000262608.13
      Conserved Domains (2) summary
      cd05509
      Location:418 → 518
      Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long ...
      pfam15614
      Location:244 → 284
      WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17359949..17558151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028785.2 → XP_016884274.1  chromatin remodeling regulator CECR2 isoform X1

      UniProtKB/Swiss-Prot
      A8MS90, A8MX16, Q658Z4, Q96P58, Q9BXF3, Q9C0C3

    2. XM_011546132.3 → XP_011544434.1  chromatin remodeling regulator CECR2 isoform X5

      UniProtKB/Swiss-Prot
      A8MS90, A8MX16, Q658Z4, Q96P58, Q9BXF3, Q9C0C3
      Conserved Domains (2) summary
      cd05509
      Location:418 → 518
      Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long ...
      pfam15614
      Location:244 → 284
      WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

    3. XM_011546129.3 → XP_011544431.1  chromatin remodeling regulator CECR2 isoform X3

      UniProtKB/Swiss-Prot
      A8MS90, A8MX16, Q658Z4, Q96P58, Q9BXF3, Q9C0C3
      Conserved Domains (2) summary
      cd05509
      Location:418 → 518
      Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long ...
      pfam15614
      Location:244 → 284
      WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

    4. XM_047441343.1 → XP_047297299.1  chromatin remodeling regulator CECR2 isoform X8

    5. XM_011546128.3 → XP_011544430.1  chromatin remodeling regulator CECR2 isoform X2

      UniProtKB/Swiss-Prot
      A8MS90, A8MX16, Q658Z4, Q96P58, Q9BXF3, Q9C0C3
      Conserved Domains (2) summary
      cd05509
      Location:390 → 490
      Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long ...
      pfam15614
      Location:244 → 284
      WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

    6. XM_047441342.1 → XP_047297298.1  chromatin remodeling regulator CECR2 isoform X7

    7. XM_047441341.1 → XP_047297297.1  chromatin remodeling regulator CECR2 isoform X6

    8. XM_047441345.1 → XP_047297301.1  chromatin remodeling regulator CECR2 isoform X11

    9. XM_024452234.2 → XP_024308002.1  chromatin remodeling regulator CECR2 isoform X4

      UniProtKB/TrEMBL
      A0A087WT21
      Conserved Domains (2) summary
      cd05509
      Location:380 → 480
      Bromo_gcn5_like; Bromodomain; Gcn5_like subfamily. Gcn5p is a histone acetyltransferase (HAT) which mediates acetylation of histones at lysine residues; such acetylation is generally correlated with the activation of transcription. Bromodomains are 110 amino acid long ...
      cl26464
      Location:507 → 990
      Atrophin-1; Atrophin-1 family

    10. XM_047441344.1 → XP_047297300.1  chromatin remodeling regulator CECR2 isoform X9

    11. XM_006724079.4 → XP_006724142.1  chromatin remodeling regulator CECR2 isoform X10

      Conserved Domains (2) summary
      PTZ00449
      Location:766 → 873
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:43 → 526
      PHA03247; large tegument protein UL36; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      18027656..18225897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325567.1 → XP_054181542.1  chromatin remodeling regulator CECR2 isoform X1

    2. XM_054325571.1 → XP_054181546.1  chromatin remodeling regulator CECR2 isoform X5

    3. XM_054325569.1 → XP_054181544.1  chromatin remodeling regulator CECR2 isoform X3

    4. XM_054325574.1 → XP_054181549.1  chromatin remodeling regulator CECR2 isoform X8

    5. XM_054325568.1 → XP_054181543.1  chromatin remodeling regulator CECR2 isoform X2

    6. XM_054325573.1 → XP_054181548.1  chromatin remodeling regulator CECR2 isoform X7

    7. XM_054325572.1 → XP_054181547.1  chromatin remodeling regulator CECR2 isoform X6

    8. XM_054325570.1 → XP_054181545.1  chromatin remodeling regulator CECR2 isoform X4

    9. XM_054325575.1 → XP_054181550.1  chromatin remodeling regulator CECR2 isoform X9

    10. XM_054325576.1 → XP_054181551.1  chromatin remodeling regulator CECR2 isoform X10

    RNA

    1. XR_008485385.1 RNA Sequence

    2. XR_008485386.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031413.4: Suppressed sequence

      Description
      NM_031413.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXF3.2 GenPept UniProtKB/Swiss-Prot:Q9BXF3

    Gene LinkOut

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