CECR2
Cat eye syndrome chromosome region, candidate 2
Gene Information Card
| Symbol | CECR2 |
|---|---|
| Full Name | Cat eye syndrome chromosome region, candidate 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 27443 ncbi.nlm.nih.gov/gene/27443 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q9BXF3 |
| OMIM ID | 607576 |
| HGNC ID | 1841 |
| Aliases | KIAA1740, FLJ20309 |
Description
CECR2 (cat eye syndrome chromosome region, candidate 2) is a protein-coding gene located on chromosome 22q11.21. It encodes a bromodomain-containing protein that functions as a transcription factor and is involved in chromatin remodeling. The gene is part of the cat eye syndrome critical region and is associated with developmental abnormalities. CECR2 is expressed in various tissues and is implicated in cellular processes such as cell cycle regulation and DNA repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cat eye syndrome | Duplication of the CECR2 gene region leads to altered gene dosage and developmental defects. | OMIM #115470 |
| Neurodevelopmental disorders | CECR2 mutations may disrupt chromatin remodeling, affecting neuronal gene expression. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cells |
| K562 | 6.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Trp; potential loss of function |
| c.567delA | Frameshift | 0.001% | p.Lys189fs; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in CECR2 are predicted to result in loss of protein function, potentially contributing to developmental disorders.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CECR2.
Dominant Negative (DN)
No dominant-negative mutations have been described for CECR2.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • DNA binding |
| • transcription coactivator activity | • nucleus |
| • chromatin remodeling |
Pathways
• Chromatin organization
• Transcriptional regulation
Protein Summary
The CECR2 protein contains a bromodomain that recognizes acetylated lysine residues on histones, facilitating chromatin remodeling and transcriptional activation. It is involved in the regulation of gene expression during development and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CECR2 Knockout HEK293 Cell Line | EDJ-KQ8783 | Human | 27443 | Details Get a Quote |
| CECR2 Knockout HCT 116 Cell Line | EDJ-KQ35058 | Human | 27443 | Details Get a Quote |
| CECR2 Knockout HeLa Cell Line | EDJ-KQ56069 | Human | 27443 | Details Get a Quote |
| CECR2 Knockout A-549 Cell Line | EDJ-KQ64552 | Human | 27443 | Details Get a Quote |
| CECR2 Knockout HAP1 Cell Line | EDC08058 | Human | 27443 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
