MAU2 - MAU2 sister chromatid cohesion factor Gene

Homo sapiens

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

Gene ID: 23383 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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