1. Gene
  2. CBX2 - chromobox 2 Gene

CBX2 - chromobox 2 Gene

中文名称:色盒 2

种属: Homo sapiens

同用名: M33; CDCA6; SRXY5

基因 ID: 84733 | 基因类型: protein coding

关于 CBX2

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:79,777,311-79,787,983 (from NCBI)

This gene has 3 transcripts (splice variants), 251 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 5.1), placenta (RPKM 1.0) and 13 other tissues.

功能概要

该基因编码 polycomb 多蛋白复合物的一个成分,它需要通过染色质重塑和组蛋白修饰在整个发育过程中维持许多基因的转录抑制状态。在小鼠中破坏该基因会导致雄性到雌性的性腺性逆转。该基因的突变也与人类性腺发育不全有关。已注意到该基因编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2010 年 3 月]

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]

CBX2 基因产物(2)

mRNA Protein Name
NM_005189.3 NP_005180.1 chromobox protein homolog 2 isoform 1
NM_032647.4 NP_116036.1 chromobox protein homolog 2 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in development of primary sexual characteristics IMP
IMP: 通过突变表型推断
19361780 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
21282530 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of PRC1 complex IDA
IDA: 通过直接分析推断
12167701 GOA
part of PcG protein complex IDA
IDA: 通过直接分析推断
21282530 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21282530 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

CBX2 蛋白结构

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (14 - 61)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 532 a.a.
蛋白主名 其他名称

chromobox protein homolog 2

Pc class homolog

CBX2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CBX2 Q14781 KRTAP10-9 Homo sapiens P60411 25416956
种属内
CBX2 Q14781 KRTAP10-9 Homo sapiens P60411 25416956
种属内
CBX2 Q14781 KRTAP2-3 Homo sapiens P0C7H8 25416956
种属内
CBX2 Q14781 DHX57 Homo sapiens Q6P158 25416956
种属内
CBX2 Q14781 MDFI Homo sapiens Q99750 19060904
种属内
CBX2 Q14781 MDFI Homo sapiens Q99750 19060904
种属内
CBX2 Q14781 RBMY1A1 Homo sapiens P0DJD3 25416956
种属内
CBX2 Q14781 RBMY1F Homo sapiens Q15415 25416956
种属内
CBX2 Q14781 RBMY1F Homo sapiens Q15415 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

CBX2 抗体

目录号 产品名 应用 反应物种
HY-P82678 CBX2 Antibody (YA2423) WB, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
46,Xy Sex Reversal 5

SRXY5

46,Xy Sex Reversal, Cbx2-Related

46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related

Sex Reversal, Xy, Cbx2-Related

Disorder Of Sex Development, 46,Xy, Cbx2-Related

46xy Sex Reversal 5

46,Xy Gonadal Dysgenesis Complete Cbx2-Related

46,Xy Sex Reversal Cbx2-Related

Disorder Of Sex Development 46,Xy Cbx2-Related

Sex Reversal Xy Cbx2-Related

46, Xy Sex Reversal 5

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Pontocerebellar Hypoplasia, Type 13

PCH13

Pontocerebellar Hypoplasia Type 13

Pontocerebellar Hypoplasia 13

Doid:0112332

Hypoplasia, Pontocerebellar, Type 13

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CBX2 MGD MGI:88289
Bos taurus CBX2 VGNC VGNC:26817
Felis catus CBX2 VGNC VGNC:98769
Canis familiaris CBX2 VGNC VGNC:51933
Macaca mulatta CBX2 VGNC VGNC:99127
Rattus norvegicus CBX2 RGD RGD:1588561
Others CBX2 NCBI