PHC2 (polyhomeotic homolog 2)

基因基本信息

基因基本信息

symbol:
PHC2
locus group:
protein-coding gene
location:
1p35.1
gene_family:
Sterile alpha motif (SAM) domain containing
alias symbol:
HPH2
alias name:
None
entrez id:
1912
ensembl gene id:
ENSG00000134686
ucsc gene id:
uc001bxg.2
refseq accession:
NM_198040
hgnc_id:
HGNC:3183
approved reserved:
1997-09-12

基因染色体位置

基因染色体位置

1p35.1
基因染色体位置图

基因简述

基因简述

PHC2（Polyhomeotic Homolog 2）属于Polycomb Group（PcG）基因家族，该家族是一类高度保守的表观遗传调控因子，主要功能是通过形成多梳抑制复合物（PRC1和PRC2）来沉默靶基因的表达，从而在胚胎发育、细胞分化、干细胞维持和癌症发生中发挥关键作用。PHC2作为PRC1复合物的核心成员，与其他PcG蛋白（如BMI1、RING1B等）共同参与染色质修饰，通过促进组蛋白H2A的泛素化（H2AK119ub）来维持基因的转录抑制状态，尤其在调控Hox基因簇的表达中至关重要。PHC2的生物学功能主要体现在维持细胞身份和抑制细胞增殖相关基因上，其异常表达可能导致发育缺陷或肿瘤发生。若PHC2过表达，可能过度抑制下游靶基因（如抑癌基因或分化相关基因），导致干细胞特性增强或分化受阻，与多种癌症（如乳腺癌、前列腺癌）的进展相关；而PHC2表达降低则可能破坏PRC1复合物的稳定性，引起靶基因（如原癌基因）的异常激活，导致发育异常或肿瘤抑制功能丧失。PHC2突变（如错义突变或截短突变）可能影响其与PRC1其他组分的相互作用，削弱基因沉默能力，已有研究发现其突变与神经发育障碍和某些罕见综合征相关。该基因家族（PcG）的共性是通过染色质重塑机制建立和维持转录抑制，成员间功能冗余但又有组织特异性分工。PHC2与PHC1、PHC3构成一个亚家族，三者结构相似但表达模式不同，共同调控发育过程中的表观遗传记忆。研究还发现PHC2与病毒感染（如HPV）导致的宫颈癌发生存在关联，可能通过干扰宿主细胞的表观遗传调控网络促进病毒致癌。

In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

在果蝇，基因的“聚硫‘组（PCG）是蜂窝存储器系统，该系统负责基因活性的稳定遗传的一部分。 PcG蛋白形成大的多聚体，染色质相关蛋白复合物。由该基因编码的蛋白质具有同源性的果蝇PCG蛋白‘polyhomeotic‘（PH），并且已知与EDR1到异源二聚体和人类细胞的间期核与BMI1共定位。在人类细胞中的具体功能尚未确定。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2008年7月提供]

OMIM数据库中对PHC2基因的介绍     Wikipedia数据库中对PHC2基因的介绍

基因序列

基因序列

PHC2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

PHC2基因的碱基突变：           仅显示部分snp
rs4074172       rs4233199       rs4271176       rs4503316       rs4652856       rs4652857       rs4653080       rs4653081       rs4653083       rs4653085       rs4653095       rs5773408       rs6673519       rs6674715       rs6678247       rs6680310       rs6703787      

基因表达

基因表达

PHC2基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CCTATCTGCAAGAATCCAAAGAG
59
TATAGGCAAAGTCCACCCG
59
CAGAGTGTGAACTCTGCAG
58
TGAAGATGAGCATCTGTGC
58
CATCTTACAACTGCAGCCT
58
TTTCCAGTCATCAGGGACAC
60
CCTATCTGCAAGAATCCAAAGAG
59
TATAGGCAAAGTCCACCCG
59
CCTATCTGCAAGAATCCAAAGAG
59
TATAGGCAAAGTCCACCCG
59
TTGTGTATAGAGACAGGGCAG
59
AGAGTTTCCGTTCCCTGAG
59
ATTCCAGGGAATCCAAAGAG
57
ACTTATAGGCAAAGTCCACC
57
TACAGTGGTATTCCAGACCG
59
ATCTGCTGCAGGTACTGAG
59
CCTATCTGCAAGAATCCAAAGAG
59
TATAGGCAAAGTCCACCCG
59
CAGAGTGTGAACTCTGCAG
58
AAGTTCTGTACCATCTGTGC
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

PHC2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

PHC2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005634
A0A0A0MSI2 (UniProtKB)
IEA
GO:0008270
A0A0A0MSI2 (UniProtKB)
IEA
GO:0005654
B3KPJ4 (UniProtKB)
IDA
GO:0008270
B3KPJ4 (UniProtKB)
IEA
GO:0000792
Q8IXK0 (UniProtKB)
IEA
GO:0003677
Q8IXK0 (UniProtKB)
IEA
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005515
Q8IXK0 (UniProtKB)
IPI
GO:0005634
Q8IXK0 (UniProtKB)
IDA
GO:0005654
Q8IXK0 (UniProtKB)
IDA
GO:0005654
Q8IXK0 (UniProtKB)
TAS
GO:0005654
Q8IXK0 (UniProtKB)
TAS
GO:0005654
Q8IXK0 (UniProtKB)
TAS
GO:0005654
Q8IXK0 (UniProtKB)
TAS
GO:0007275
Q8IXK0 (UniProtKB)
IEA
GO:0007283
Q8IXK0 (UniProtKB)
IEA
GO:0008270
Q8IXK0 (UniProtKB)
IEA
GO:0016925
Q8IXK0 (UniProtKB)
TAS
GO:0016925
Q8IXK0 (UniProtKB)
TAS
GO:0031519
Q8IXK0 (UniProtKB)
IDA
GO:0035102
Q8IXK0 (UniProtKB)
IDA
GO:0035102
Q8IXK0 (UniProtKB)
IDA
GO:0042802
Q8IXK0 (UniProtKB)
IPI
GO:0042802
Q8IXK0 (UniProtKB)
IPI
GO:0042802
Q8IXK0 (UniProtKB)
IPI

基因相关microRNA

基因相关microRNA

可能调控 PHC2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Tobacco Use Disorder 0.002367032 1 0 GAD
Hartnup Disease 0.000542884 2 0 BeFree
Amino acid transport disorder 0.000271442 1 0 BeFree
leukemia 0.000271442 1 0 BeFree
Hyperphenylalaninaemia 0.000271442 1 0 BeFree

基因相关服务

基因相关服务

联系方式

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