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

Gene ID: 27443, updated on 2-Mar-2021

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
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:
21
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (17359949..17558151)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17840839..18037852)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene cat eye syndrome chromosome region, candidate 3 Neighboring gene RNA, 7SL, cytoplasmic 843, pseudogene Neighboring gene TERF2 interacting protein pseudogene 1 Neighboring gene Charcot-Leyden crystal protein pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 6 Neighboring gene uncharacterized LOC105372850 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
  • 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. 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,
  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. 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
  4. Chromatin remodelling in mammalian cells by ISWI-type complexes--where, when and why? Erdel F, et al. FEBS J, 2011 Oct. PMID 21810179
  5. A Subset of Human Bromodomains Recognizes Butyryllysine and Crotonyllysine Histone Peptide Modifications. Flynn EM, et al. Structure, 2015 Oct 6. PMID 26365797

See all (21) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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

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

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

General protein information

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Preferred Names
cat eye syndrome critical region protein 2
Names
cat eye syndrome chromosome region, candidate 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
    5001..203207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290046.2 → NP_001276975.1  cat eye syndrome critical region protein 2 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/Swiss-Prot
    Q9BXF3
    UniProtKB/TrEMBL
    B7WPH3
    Related
    ENSP00000383428.2, ENST00000400585.6
    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  cat eye syndrome critical region protein 2 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
    UniProtKB/Swiss-Prot
    Q9BXF3
    Related
    ENSP00000262608.10, ENST00000262608.12
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028785.1 → XP_016884274.1  cat eye syndrome critical region protein 2 isoform X1

  2. XM_011546132.2 → XP_011544434.1  cat eye syndrome critical region protein 2 isoform X5

    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_011546129.2 → XP_011544431.1  cat eye syndrome critical region protein 2 isoform X3

    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_011546128.2 → XP_011544430.1  cat eye syndrome critical region protein 2 isoform X2

    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

  5. XM_024452234.1 → XP_024308002.1  cat eye syndrome critical region protein 2 isoform X4

    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

  6. XM_006724079.3 → XP_006724142.1  cat eye syndrome critical region protein 2 isoform X6

    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

RNA

  1. XR_951200.2 RNA Sequence

  2. XR_951201.2 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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