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

Gene ID: 27443, updated on 2-Nov-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
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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)

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

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