1. Gene
  2. MAU2 - MAU2 sister chromatid cohesion factor Gene

MAU2 - MAU2 sister chromatid cohesion factor Gene

中文名称:MAU2 姐妹染色单体凝聚因子

种属: Homo sapiens

同用名: SCC4; MAU2L; mau-2; KIAA0892

基因 ID: 23383 | 基因类型: protein coding

关于 MAU2

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,320,829-19,358,754 (from NCBI)

This gene has 16 transcripts (splice variants), 246 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.5), ovary (RPKM 12.1) and 25 other tissues.

功能概要

启用蛋白质 N 末端结合活性。参与有丝分裂姐妹染色单体内聚力的内聚蛋白加载和维持。位于染色质和核体中。 Scc2-Scc4 粘附蛋白加载复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein N-terminus binding activity. Involved in cohesin loading and maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Apr 2022]

MAU2 基因产物(1)

mRNA Protein Name
NM_015329.4 NP_056144.3 MAU2 chromatid cohesion factor homolog
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 cohesin loader activity IMP
IMP: 通过突变表型推断
22628566 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16682347 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in maintenance of mitotic sister chromatid cohesion IMP
IMP: 通过突变表型推断
16682347 GOA
involved in mitotic sister chromatid cohesion IDA
IDA: 通过直接分析推断
22628566 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SMC loading complex IDA
IDA: 通过直接分析推断
16682347 GOA
part of SMC loading complex IMP
IMP: 通过突变表型推断
16802858 GOA
part of Scc2-Scc4 cohesin loading complex IDA
IDA: 通过直接分析推断
22628566 GOA
located in chromatin IDA
IDA: 通过直接分析推断
16682347 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
16682347 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16682347 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

MAU2 蛋白结构

Cohesin_load

Cohesin_load: Cohesin loading factor (24 - 570)

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

MAU2 chromatid cohesion factor homolog

cohesin loading complex subunit SCC4 homolog

MAU2 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
MAU2 Q9Y6X3 NIPBL Homo sapiens Q6KC79
Y2H
16802858
种属内
MAU2 Q9Y6X3 NIPBL Homo sapiens Q6KC79 26496610
种属内
MAU2 Q9Y6X3 NIPBL Homo sapiens Q6KC79 16802858
种属内
MAU2 Q9Y6X3 MOB3C Homo sapiens Q70IA8 33961781
种属内
MAU2 Q9Y6X3 MOB3C Homo sapiens Q70IA8 28514442
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
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Gum Cancer

Malignant Neoplasm Of Gum

Malignant Tumor Of Gum

Malignant Gingival Tumor

Malignant Neoplasm Of Other Sites Of Gum

Malignant Tumour Of Gingiva

Tongue Carcinoma

Tongue Cancer

Malignant Neoplasm Of Tongue

Tongue Neoplasms

Tongue Neoplasm

Pharynx Squamous Cell Carcinoma
Oral Mucosa Leukoplakia

Leukoplakia, Oral

Leukoplakia Of Buccal Mucosa

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome

Sc Phocomelia Syndrome

RBS

Long Bone Deficiencies Associated With Cleft Lip-Palate

Sc Pseudothalidomide Syndrome

Appelt-Gerken-Lenz Syndrome

Pseudothalidomide Syndrome

Tetraphocomelia-Cleft Palate Syndrome

Hypomelia Hypotrichosis Facial Hemangioma Syndrome

Roberts Syndrome/Sc Phocomelia

Roberts Tetraphocomelia Syndrome

Sc Syndrome

Sc Phocomelia

Sc Disease

Sc

Hemoglobin Sc Disease

Tongue Disease

Abnormality Of The Tongue

Tongue Diseases

Tongue Disorders

Disorder Of Tongue

Glossopathy

Unspecified Condition Of The Tongue

Tracheal Cancer

Tracheal Carcinoma

Malignant Neoplasm Of Trachea

Tracheal Neoplasms

Pancoast Tumor

Pulmonary Sulcus Neoplasm

Pancoast Syndrome

Tongue Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Tongue

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
Canis familiaris MAU2 VGNC VGNC:43043
Felis catus MAU2 VGNC VGNC:63396
Bos taurus MAU2 VGNC VGNC:31267
Mus musculus MAU2 MGD MGI:1921799
Rattus norvegicus MAU2 RGD RGD:1308759