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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CECR2
CECR2 histone acetyl-lysine reader
Chromosome 22 · 22q11.1-q11.21
NCBI Gene: 27443Ensembl: ENSG00000099954.19HGNC: HGNC:1840UniProt: B7WPH3
32PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusexecution phase of apoptosisCERF complexprotein bindingpreeclampsiainjuryCOVID-19severe acute respiratory syndrome
✦AI Summary

CECR2 is a bromodomain-containing histone acetyl-lysine reader that functions as a regulatory subunit of ATP-dependent ISWI chr22 remodeling complexes (CERF-1 and CERF-5), which facilitate ordered nucleosome array formation and enhance DNA accessibility for replication, transcription, and repair 1. CECR2 recognizes and binds acetylated and butyrylated histones 2, enabling its role in multiple biological processes including embryonic neural tube closure and inner ear development, adult spermatogenesis, and DNA damage response 3. Clinically, CECR2 dysfunction is associated with developmental disorders and cancer. Loss-of-function CECR2 mutations in humans cause neural tube defects, which are exacerbated by elevated homocysteine levels through a gene-environment interaction 4. CECR2 loss-of-function also models cat eye syndrome phenotypes including coloboma and organ defects 5. In breast cancer, CECR2 is upregulated in metastases and drives metastatic progression by promoting NF-κB/RelA-mediated chr22 accessibility at metastasis-promoting genes (TNC, MMP2, VEGFA) and immunosuppressive cytokines (CSF1, CXCL1), which facilitate M2 macrophage infiltration and immune evasion 6. CECR2 bromodomain inhibition impedes this pathway, suggesting CECR2 as a therapeutic target for metastatic disease 7. Novel degrader-based approaches targeting CECR2 show promise for disrupting its oncogenic function 8.

Sources cited
1
CECR2 is a regulatory subunit of ATP-dependent CERF-1 and CERF-5 ISWI chromatin remodeling complexes that form ordered nucleosome arrays and facilitate DNA access
PMID: 15640247
2
CECR2 recognizes and binds acetylated and/or butyrylated histones in histone-modifying complexes
PMID: 22464331
3
Loss of Cecr2 is associated with neural tube defects and specific inner ear developmental abnormalities in mice
PMID: 21246654
4
Genetic variants in CECR2 combined with elevated homocysteine levels show synergistic effects on neural tube defect development in humans
PMID: 37424722
5
Cecr2 mutant mice model human cat eye syndrome phenotypes including coloboma and organ defects
PMID: 33542446
6
CECR2 is upregulated in breast cancer metastases and drives metastasis by promoting NF-κB-mediated expression of metastasis-promoting and immunosuppressive genes
PMID: 35108062
7
CECR2 bromodomain inhibitor NVS-CECR2-1 exhibits cytotoxic activity against cancer cells primarily through apoptosis induction
PMID: 33004947
8
CECR2 bromodomain-targeting degraders can effectively degrade endogenous CECR2 protein
PMID: 37260298
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.30Weak
injuryOpen Targets
0.30Weak
COVID-19Open Targets
0.27Weak
severe acute respiratory syndromeOpen Targets
0.27Weak
skin cancerOpen Targets
0.24Weak
blood vessel replacementOpen Targets
0.24Weak
diabetic ketoacidosisOpen Targets
0.22Weak
malunion fractureOpen Targets
0.19Weak
hypertensionOpen Targets
0.17Weak
neural tube defects, folate-sensitiveOpen Targets
0.09Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.08Suggestive
anencephaly 1Open Targets
0.08Suggestive
Spina bifida - hypospadiasOpen Targets
0.07Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.07Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
tropical spastic paraparesisOpen Targets
0.06Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.05Suggestive
Brugada syndromeOpen Targets
0.05Suggestive
Pathogenic Variants3
NM_001290047.2(CECR2):c.1737dup (p.Thr580fs)Likely pathogenic
CECR2-related neurodevelopmental disorder
★☆☆☆2025→ Residue 580
NM_001290047.2(CECR2):c.1819C>T (p.Arg607Ter)Likely pathogenic
CECR2-related neurodevelopmental disorder
★☆☆☆2025→ Residue 607
NM_001290047.2(CECR2):c.4153C>G (p.Gln1385Glu)Likely pathogenic
CECR2-related neurodevelopmental disorder
★☆☆☆2025→ Residue 1385
View on ClinVar ↗
Related Genes
MAP1SProtein interaction98%RBBP4Protein interaction96%TRRAPProtein interaction95%TAF12Protein interaction93%TAF10Protein interaction93%BPTFProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Brain
47%
Heart
43%
Ovary
31%
Lung
25%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
CECR2MAP1SRBBP4TRRAPTAF12TAF10BPTF
PROTEIN STRUCTURE
Preparing viewer…
PDB8RU1 · 1.66 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.14–0.26]
RankingsWhere CECR2 stands among ~20K protein-coding genes
  • #11,482of 20,598
    Most Researched32
  • #4,107of 5,498
    Most Pathogenic Variants3
  • #833of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedCECR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CECR2 drives breast cancer metastasis by promoting NF-κB signaling and macrophage-mediated immune suppression.
PMID: 35108062
Sci Transl Med · 2022
1.00
2
Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development.
PMID: 21246654
Dev Dyn · 2011
0.90
3
Cytotoxic activity of bromodomain inhibitor NVS-CECR2-1 on human cancer cells.
PMID: 33004947
Sci Rep · 2020
0.80
4
Optical controlled and nuclear targeted CECR2 competitor to downregulate CSF-1 for metastatic breast cancer immunotherapy.
PMID: 38615488
Biomaterials · 2024
0.70
5
Double whammy: the genetic variants in CECR2 and high Hcy on the development of neural tube defects.
PMID: 37424722
Front Genet · 2023
0.60