1. Gene
  2. SMARCC2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 Gene

SMARCC2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 Gene

中文名称:SWI/SNF 相关,基质相关,染色质亚科 c 成员 2 的肌动蛋白依赖调节因子

种属: Homo sapiens

同用名: CSS8; Rsc8; BAF170; CRACC2

基因 ID: 6601 | 基因类型: protein coding

关于 SMARCC2

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:56,162,359-56,189,483 (from NCBI)

This gene has 15 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 28.0), ovary (RPKM 22.4) 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物 SNF/SWI 的一部分,并且包含许多转录因子典型的预测亮氨酸拉链基序。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 contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMARCC2 基因产物(4)

mRNA Protein Name
NM_001130420.3 NP_001123892.1 SWI/SNF complex subunit SMARCC2 isoform c
NM_001330288.2 NP_001317217.1 SWI/SNF complex subunit SMARCC2 isoform d
NM_003075.5 NP_003066.2 SWI/SNF complex subunit SMARCC2 isoform a
NM_139067.4 NP_620706.1 SWI/SNF complex subunit SMARCC2 isoform b
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
12192000 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
10078207 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12192000 GOA
involved in nucleosome disassembly IDA
IDA: 通过直接分析推断
8895581 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11018012 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

SMARCC2 蛋白结构

SWIRM

SWIRM: SWIRM domain (425 - 512)

Myb_DNA-binding

Myb_DNA-binding: Myb-like DNA-binding domain (600 - 641)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1214 a.a.
蛋白主名 其他名称

SWI/SNF complex subunit SMARCC2

SWI/SNF complex 170 kDa subunit

SMARCC2 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 SMARCC2 Q8TAQ2 SMARCD1 Homo sapiens Q96GM5
Anti Tag CoIP
35271311
Intra SMARCC2 Q8TAQ2 SMARCA2 Homo sapiens P51531
Y2H Pooling
21653829
Intra SMARCC2 Q8TAQ2 SMARCA2 Homo sapiens P51531
Anti Tag CoIP
21653829
Intra SMARCC2 Q8TAQ2 SMARCA2 Homo sapiens P51531
Anti Tag CoIP
33961781
Intra SMARCC2 Q8TAQ2 ARID1B Homo sapiens Q8NFD5
Anti Tag CoIP
33961781
Intra SMARCC2 Q8TAQ2 ARID1B Homo sapiens Q8NFD5
Anti Tag CoIP
35271311
Intra SMARCC2 Q8TAQ2 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
Intra SMARCC2 Q8TAQ2 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
Coffin-Siris Syndrome 8

CSS8

Coffin-Siris Syndrome, Type 8

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Hypertrichosis
Clark-Baraitser Syndrome

CLABARS

Baraitser Syndrome

Autosomal Dominant Intellectual Disability 49

Mental Retardation, Autosomal Dominant 49, Formerly

Mrd49, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 49

Autosomal Dominant Mental Retardation 49

Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

Mrd49

Progeria Short Stature Pigmented Nevi

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Neurilemmomatosis

Schwannomatosis

Neurofibromatosis Type 3

Nf3

Neurilemmomatosis Congenital Cutaneous

Neurinomatosis

Congenital Cutaneous Neurilemmomatosis

Multiple Neurilemmomas

Multiple Schwannomas

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis 1

Neurofibromatosis 3

Mixed Central And Peripheral Neurofibromatosis

Nf3 - [Neurofibromatosis Type 3]

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation

Autosomal Dominant Non-Syndromic Mental Retardation

Autosomal Dominant Non-Syndromic Intellectual Disability

Mental Retardation, Autosomal Dominant

Kidney Rhabdoid Cancer

Rhabdoid Tumor Of The Kidney

Kidney Rhabdoid Tumor

Renal Rhabdoid Tumor

Rhabdoid Cancer

Rhabdoid Tumor

Malignant Rhabdoid Tumor

Malignant Rhabdoid Tumour

Rhabdoid Sarcoma

Rhabdoid Tumor Predisposition Syndrome 1

Rhabdoid Tumor Predisposition Syndrome 2

Atypical Teratoid Rhabdoid Tumor

Brain Tumor, Posterior Fossa, Of Infancy, Familial

Atypical Teratoid/Rhabdoid Tumor

Atypical Teratoid Rhabdoid Tumor

Rhabdoid Tumor Predisposition Syndrome

Rtps

Atypical Teratoid/Rhabdoid Tumor

Rhabdoid Predisposition Syndrome

Familial Posterior Fossa Brain Tumor Of Infancy

Familial Rhabdoid Tumor

At/Rt

Atypical Teratoid Rhabdoid Tumour

Atypical Teratoid/Rhabdoid Tumour

Rhabdoid Tumor Of The Cns

Rhabdoid Tumour Of The Cns

Familial Posterior Fossa Brain Tumor Syndrome

Hereditary Swi/Snf Deficiency Syndrome

Atrt

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 SMARCC2 MGD MGI:1915344
Bos taurus SMARCC2 VGNC VGNC:34992
Rattus norvegicus SMARCC2 RGD RGD:1597704
Macaca mulatta SMARCC2 VGNC VGNC:77652
Canis familiaris SMARCC2 VGNC VGNC:46536
Felis catus SMARCC2 VGNC VGNC:65470