MAU2 - MAU2 sister chromatid cohesion factor Gene

Also Known as SCC4; MAU2L; mau-2; KIAA0892

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23383

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_015329.4	NP_056144.3	MAU2 chromatid cohesion factor homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cohesin loader activity	IMP IMP: Inferred from mutant phenotype	22628566	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16682347	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in maintenance of mitotic sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	16682347	GOA
involved in mitotic sister chromatid cohesion	IDA IDA: Inferred from direct assay	22628566	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SMC loading complex	IDA IDA: Inferred from direct assay	16682347	GOA
part of SMC loading complex	IMP IMP: Inferred from mutant phenotype	16802858	GOA
part of Scc2-Scc4 cohesin loading complex	IDA IDA: Inferred from direct assay	22628566	GOA
located in chromatin	IDA IDA: Inferred from direct assay	16682347	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16682347	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16682347	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAU2 Protein Structure

Cohesin_load

0
100
200
300
400
500
613 a.a.

Protein Preferred Names	Protein Names
MAU2 chromatid cohesion factor homolog	cohesin loading complex subunit SCC4 homolog

MAU2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MAU2	Q9Y6X3	NIPBL	Homo sapiens	Q6KC79	Y2H	16802858
Intra	MAU2	Q9Y6X3	NIPBL	Homo sapiens	Q6KC79	Anti Tag CoIP	26496610
Intra	MAU2	Q9Y6X3	NIPBL	Homo sapiens	Q6KC79	Anti Tag CoIP	16802858
Intra	MAU2	Q9Y6X3	MOB3C	Homo sapiens	Q70IA8	Anti Tag CoIP	33961781
Intra	MAU2	Q9Y6X3	MOB3C	Homo sapiens	Q70IA8	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08175	MAU2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	MAU2	NCBI