CECR2 - CECR2 histone acetyl-lysine reader Gene

Homo sapiens

Gene ID: 27443 | Gene type: protein coding

About CECR2

Cytogenetic location: 22q11.1-q11.21 Genomic coordinates (GRCh38): 22:17,359,949-17,558,151 (from NCBI)

This gene has 6 transcripts (splice variants), 156 orthologues and 11 paralogues. Broad expression in brain (RPKM 2.7), testis (RPKM 2.2) and 20 other tissues.

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]

CECR2 Products(14)

mRNA	Protein	Name
XM_047441345.1	XP_047297301.1	cat eye syndrome critical region protein 2 isoform X11
XM_011546128.3	XP_011544430.1	cat eye syndrome critical region protein 2 isoform X2
XM_006724079.4	XP_006724142.1	cat eye syndrome critical region protein 2 isoform X10
XM_017028785.2	XP_016884274.1	cat eye syndrome critical region protein 2 isoform X1
NM_031413.4
XM_047441344.1	XP_047297300.1	cat eye syndrome critical region protein 2 isoform X9
NM_001290046.2	NP_001276975.1	chromatin remodeling regulator CECR2 isoform 2
XM_047441343.1	XP_047297299.1	cat eye syndrome critical region protein 2 isoform X8
XM_011546132.3	XP_011544434.1	cat eye syndrome critical region protein 2 isoform X5
XM_047441342.1	XP_047297298.1	cat eye syndrome critical region protein 2 isoform X7
XM_024452234.2	XP_024308002.1	cat eye syndrome critical region protein 2 isoform X4
XM_047441341.1	XP_047297297.1	cat eye syndrome critical region protein 2 isoform X6
XM_011546129.3	XP_011544431.1	cat eye syndrome critical region protein 2 isoform X3
NM_001290047.2	NP_001276976.1	chromatin remodeling regulator CECR2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP-dependent chromatin remodeler activity	IDA IDA: Inferred from direct assay	15640247	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12762840	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	15640247	GOA
involved in execution phase of apoptosis	IDA IDA: Inferred from direct assay	12762840	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of CERF complex	IDA IDA: Inferred from direct assay	15640247	GOA
part of CERF complex	IPI IPI: Inferred from physical interaction	15640247	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12762840	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CECR2 Protein Structure

Bromodomain

0
100
200
300
400
456 a.a.

Protein Preferred Names

Protein Names

chromatin remodeling regulator CECR2

cat eye syndrome critical region protein 2

cat eye syndrome chromosome region, candidate 2

Related Diseases

Diseases

Alias

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Cat Eye Syndrome

CES	Schmid-Fraccaro Syndrome
Chromosome 22 Partial Tetrasomy	Inv Dup(22)(Q11)
Cat-Eye Syndrome	Cess
Opitz Trigonocephaly Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110374	NVS-CECR2-1	Inhibitor	99.40%	Unkown
HY-112610	CF53	Inhibitor	99.78%	Unkown
HY-114205A	TP-238 hydrochloride	Inhibitor	≥99.0%	Unkown
HY-114205	TP-238	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CECR2	VGNC	VGNC:48875
Rattus norvegicus	CECR2	RGD	RGD:1564182
Bos taurus	CECR2	VGNC	VGNC:49053
Macaca mulatta	CECR2	VGNC	VGNC:84530
Felis catus	CECR2	VGNC	VGNC:83526
Mus musculus	CECR2	MGD	MGI:1923799
Others	CECR2	NCBI

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