2. Gene
  3. CECR2 - CECR2 histone acetyl-lysine reader Gene

CECR2 - CECR2 histone acetyl-lysine reader Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：CECR2 组蛋白乙酰赖氨酸读取器

种属: Homo sapiens

基因 ID: 27443 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种含溴结构域的蛋白质，该蛋白质参与染色质重塑，还可能在 DNA 损伤反应中发挥作用。编码的蛋白质作为参与神经形成的 ATP 依赖性复合物的一部分发挥作用。该基因是猫眼综合症的候选基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP-dependent chromatin remodeler activity IDA
IDA: 通过直接分析推断
15640247 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12762840 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromatin remodeling IDA
IDA: 通过直接分析推断
15640247 GOA
involved in execution phase of apoptosis IDA
IDA: 通过直接分析推断
12762840 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CERF complex IDA
IDA: 通过直接分析推断
15640247 GOA
part of CERF complex IPI
IPI: 通过物理相互作用推断
15640247 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12762840 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CECR2 蛋白结构

Bromodomain

Bromodomain: Bromodomain (375 - 448)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 456 a.a.
蛋白主名 其他名称

chromatin remodeling regulator CECR2

cat eye syndrome critical region protein 2

cat eye syndrome chromosome region, candidate 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-110374 NVS-CECR2-1 Inhibitor 99.40% 否
HY-112610 CF53 Inhibitor 99.78% 否
HY-114205A TP-238 hydrochloride Inhibitor ≥99.0% 否
HY-114205 TP-238 Inhibitor / 否

直系同源

种属 基因名 来源 基因 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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