1. Gene
  2. BCL7B - BAF chromatin remodeling complex subunit BCL7B Gene

BCL7B - BAF chromatin remodeling complex subunit BCL7B Gene

中文名称:BAF 染色质重塑复合亚基 BCL7B

种属: Homo sapiens

同用名: SMARCJ2

基因 ID: 9275 | 基因类型: protein coding

关于 BCL7B

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,536,356-73,557,690 (from NCBI)

This gene has 14 transcripts (splice variants), 225 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 30.9), testis (RPKM 18.4) and 25 other tissues.

功能概要

该基因编码 BCL7 家族的一个成员,包括 BCL7A、BCL7B 和 BCL7C 蛋白。这个成员是 BCL7B,它包含一个与 BCL7A 或 BCL7C 蛋白的 N 端片段高度相似的区域。 BCL7A 蛋白由已知直接参与伯基特淋巴瘤细胞系中的三向基因易位的基因编码。该基因位于威廉姆斯综合征中通常缺失的染色体区域。该基因从秀丽隐杆线虫到人类高度保守。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供,2010 年 10 月]

This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]

BCL7B 基因产物(3)

mRNA Protein Name
NM_001197244.2 NP_001184173.1 B-cell CLL/lymphoma 7 protein family member B isoform 2
NM_001301061.2 NP_001287990.1 B-cell CLL/lymphoma 7 protein family member B isoform 3
NM_001707.4 NP_001698.2 B-cell CLL/lymphoma 7 protein family member B isoform 1
基因本体论
  • 分子功能
  • 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
21044950 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SWI/SNF complex IDA
IDA: 通过直接分析推断
23644491 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

BCL7B 蛋白结构

BCL_N

BCL_N: BCL7, N-terminal conserver region (4 - 52)

  • 0
  • 100
  • 202 a.a.
蛋白主名 其他名称

B-cell CLL/lymphoma 7 protein family member B

B-cell CLL/lymphoma 7B

BCL7B 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
BCL7B Q9BQE9 MAGEA6 Homo sapiens P43360
Y2H Array
25416956
种属内
BCL7B Q9BQE9 MAGEA6 Homo sapiens P43360
Y2H Array
32296183
种属内
BCL7B Q9BQE9 MAGEA6 Homo sapiens P43360
Y2H Prey Pooling
32296183
种属内
BCL7B Q9BQE9 MAGEA3 Homo sapiens P43357
Y2H Prey Pooling
32296183
种属内
BCL7B Q9BQE9 MAGEA3 Homo sapiens P43357
Y2H Array
32296183
种属内
BCL7B Q9BQE9 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
种属内
BCL7B Q9BQE9 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
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
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome

7q11.23 Microduplication Syndrome

Chromosome 7q11.23 Duplication Syndrome

Wbs Duplication Syndrome

Somerville-Van Der Aa Syndrome

Dup(7)(Q11.23)

Trisomy 7q11.23

William-Beuren Region Duplication Syndrome

Chromosome 7q11.23 Duplication

Hypophosphatasia, Childhood

Childhood Hypophosphatasia

Childhood-Onset Hypophosphatasia

HPPC

Childhood-Onset Phosphoethanolaminuria

Childhood-Onset Rathburn Disease

Childhood-Onset Rathbun Disease

Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type

Hypercalcemic Type Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary, Hypercalcemic Type

Ovarian Small Cell Carcinoma, Hypercalcemic Type

Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

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
Bos taurus BCL7B VGNC VGNC:26450
Canis familiaris BCL7B VGNC VGNC:38413
Mus musculus BCL7B MGD MGI:1332238
Rattus norvegicus BCL7B RGD RGD:1597090
Macaca mulatta BCL7B VGNC VGNC:70039
Felis catus BCL7B VGNC VGNC:60088