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  2. BCOR - BCL6 corepressor Gene

BCOR - BCL6 corepressor Gene

中文名称:BCL6 核心阻遏物

种属: Homo sapiens

同用名: MAA2; ANOP2; MCOPS2

基因 ID: 54880 | 基因类型: protein coding

关于 BCOR

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:40,051,246-40,177,329 (from NCBI)

This gene has 17 transcripts (splice variants), 249 orthologues, 1 paralogue and is associated with 156 phenotypes. Ubiquitous expression in thyroid (RPKM 8.0), lymph node (RPKM 7.0) and 25 other tissues.

功能概要

由该基因编码的蛋白质被鉴定为 BCL6 的相互作用辅阻遏物,BCL6 是生发中心形成所需的 POZ/锌指转录阻遏物,可能影响细胞凋亡。该蛋白选择性地与 BCL6 的 POZ 结构域相互作用,但不与其他八种 POZ 蛋白相互作用。特定的 I 类和 II 类组蛋白脱乙酰酶 (HDAC) 已被证明与这种蛋白质相互作用,这表明两类 HDAC 之间可能存在联系。已发现该基因编码不同亚型的几种转录变体。在 Y 染色体上发现了该基因的假基因。[RefSeq 提供,2010 年 6 月]

The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence Apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]

BCOR 基因产物(4)

mRNA Protein Name
NM_001123383.1 NP_001116855.1 BCL-6 corepressor isoform a
NM_001123384.2 NP_001116856.1 BCL-6 corepressor isoform b
NM_001123385.2 NP_001116857.1 BCL-6 corepressor isoform c
NM_017745.6 NP_060215.4 BCL-6 corepressor isoform a
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 DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
10898795 GOA
enables heat shock protein binding IDA
IDA: 通过直接分析推断
16943429 GOA
enables histone deacetylase binding IPI
IPI: 通过物理相互作用推断
10898795 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16713569 GOA
enables transcription cis-regulatory region binding IMP
IMP: 通过突变表型推断
19578371 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
10898795 GOA
enables transcription corepressor activity IMP
IMP: 通过突变表型推断
15878880 GOA
contributes to ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
16943429 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
16943429 GOA
involved in heart development IMP
IMP: 通过突变表型推断
17517692 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
10898795 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
15878880 GOA
involved in negative regulation of bone mineralization IMP
IMP: 通过突变表型推断
19578371 GOA
involved in negative regulation of tooth mineralization IMP
IMP: 通过突变表型推断
19578371 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
19578371 GOA
involved in odontogenesis IMP
IMP: 通过突变表型推断
17517692 GOA
involved in roof of mouth development IMP
IMP: 通过突变表型推断
17517692 GOA
involved in specification of axis polarity IMP
IMP: 通过突变表型推断
17517692 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BCOR complex IDA
IDA: 通过直接分析推断
16943429 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10898795 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

BCOR 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1467 - 1558)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1755 a.a.
蛋白主名 其他名称

BCL-6 corepressor

BCL-6 coreceptor

BCOR 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
Intra BCOR Q6W2J9 USP7 Homo sapiens Q93009
Anti Tag CoIP
26496610
Intra BCOR Q6W2J9 KDM2B Homo sapiens Q8NHM5
TAP
27505670
Intra BCOR Q6W2J9 KDM2B Homo sapiens Q8NHM5
Anti Tag CoIP
26496610
Intra BCOR Q6W2J9 KDM2B Homo sapiens Q8NHM5
Anti Bait CoIP
16943429
Intra BCOR Q6W2J9 CBX8 Homo sapiens Q9HC52
Anti Bait CoIP
27505670
Intra BCOR Q6W2J9 CBX8 Homo sapiens Q9HC52
TAP
27505670
Intra BCOR Q6W2J9 PCGF1 Homo sapiens Q9BSM1
Anti Bait CoIP
16943429
Intra BCOR Q6W2J9 PCGF1 Homo sapiens Q9BSM1
TAP
27505670
Intra BCOR Q6W2J9 PCGF1 Homo sapiens Q9BSM1
Pull Down
16943429
Intra BCOR Q6W2J9 PCGF1 Homo sapiens Q9BSM1
Anti Tag CoIP
26496610
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome

Ofcd Syndrome

MCOPS2

Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

Syndromic Microphthalmia 2

Anop2

Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

Maa2

Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

Syndromic Microphthalmia Type 2

Oculo-Facio-Cardio-Dental Syndrome

Anop2, Formerly

Maa2, Formerly

Microphthalmia Syndromic 2

Oculo Facio Cardio Dental Syndrome

Microphthalmia, Syndromic, 2

Marashi-Gorlin Syndrome

Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

Microphthalmia, Syndromic, Type 2

Microphthalmia, Syndromic 1

MCOPS1

Lenz Microphthalmia Syndrome

Lenz Dysplasia

Mcops4

Syndromic Microphthalmia 1

Lenz Microphthalmia

Maa

Microphthalmia Or Anophthalmos With Associated Anomalies

Syndromic Microphthalmia Type 4

Microphthalmia, Syndromic 4

Microphthalmia, Syndromic 4, Formerly

Mcops4, Formerly

Anop1, Formerly

Maa, Formerly

Lenz Type Microphthalmia

Syndromic Microphthalmia 4

Microphthalmia Lenz Type

Microphthalmia Syndromic 1

Syndromic Microphthalmia Type 1

Microphthalmia Syndromic 4

Microphthalmia With Ankyloblepharon And Intellectual Disability

Microphthalmia, Lenz Type

Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Microphthalmia, Syndromic, 1

Anop1

Microphthalmia, Syndromic, Type 1

Kidney Clear Cell Sarcoma

Clear Cell Sarcoma Of Kidney

Childhood Kidney Clear Cell Sarcoma

Renal Clear Cell Sarcoma

Ccsk

Clear Cell Sarcoma Of The Kidney

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Extraocular Retinoblastoma

Pediatric Extraocular Retinoblastoma

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Syndromic Microphthalmia

Microphthalmia, Syndromic

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Adenosarcoma

Mullerian Adenosarcoma

Intraocular Retinoblastoma

Pediatric Intraocular Retinoblastoma

Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma

Hypertrichosis
Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Felis catus BCOR VGNC VGNC:97366
Mus musculus BCOR MGD MGI:1918708
Macaca mulatta BCOR VGNC VGNC:97738
Rattus norvegicus BCOR RGD RGD:1562735
Canis familiaris BCOR VGNC VGNC:53706
Bos taurus BCOR VGNC VGNC:56520
Others BCOR NCBI