1. Gene
  2. SMARCD2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Gene

SMARCD2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Gene

中文名称:SWI/SNF 相关、基质相关、肌动蛋白依赖性染色质调节因子,d 亚科,成员 2

种属: Homo sapiens

同用名: SGD2; Rsc6p; BAF60B; CRACD2; PRO2451

基因 ID: 6603 | 基因类型: protein coding

关于 SMARCD2

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,832,081-63,842,685 (from NCBI)

This gene has 28 transcripts (splice variants), 220 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 18.0) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 SWI/SNF 蛋白质家族的成员,其成员具有解旋酶和 ATP 酶活性,被认为通过改变这些基因周围的染色质结构来调节某些基因的转录。编码的蛋白质是大型 ATP 依赖性染色质重塑复合体 SNF/SWI 的一部分,与酵母 Swp73 蛋白质具有序列相似性。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMARCD2 基因产物(3)

mRNA Protein Name
NM_001098426.2 NP_001091896.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 1
NM_001330439.1 NP_001317368.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 2
NM_001330440.2 NP_001317369.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 isoform 3
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
20148946 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
11726552 GOA
involved in nucleosome disassembly IDA
IDA: 通过直接分析推断
8895581 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
8804307 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

SMARCD2 蛋白结构

SWIB

SWIB: SWIB/MDM2 domain (308 - 380)

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

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2

60 kDa BRG-1/Brm-associated factor subunit B

SMARCD2 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
SMARCD2 Q92925 ARID1A Homo sapiens O14497 35271311
种属内
SMARCD2 Q92925 ARID1A Homo sapiens O14497 30021884
种属内
SMARCD2 Q92925 UNKL Homo sapiens Q9H9P5
Y2H
20148946
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
Specific Granule Deficiency 2

SGD2

Specific Granule Deficiency 1

Specific Granule Deficiency

Neutrophil-Specific Granule Deficiency

SGD1

Lactoferrin-Deficient Neutrophils

Neutrophil Lactoferrin Deficiency

Recurrent Infection Due To Specific Granule Deficiency

Neutrophil Secondary Granule Deficiency

Autosomal Recessive Severe Congenital Neutropenia
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 SMARCD2 VGNC VGNC:34994
Canis familiaris SMARCD2 VGNC VGNC:46538
Rattus norvegicus SMARCD2 RGD RGD:69289
Macaca mulatta SMARCD2 VGNC VGNC:77654
Mus musculus SMARCD2 MGD MGI:1933621
Felis catus SMARCD2 VGNC VGNC:65472