Gene Gene information from NCBI Gene database.
Entrez ID 23383
Gene name MAU2 sister chromatid cohesion factor
Gene symbol MAU2
Synonyms (NCBI Gene)
KIAA0892MAU2LSCC4mau-2
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
445
miRTarBase ID miRNA Experiments Reference
MIRT049605 hsa-miR-92a-3p CLASH 23622248
MIRT040031 hsa-miR-615-3p CLASH 23622248
MIRT687587 hsa-miR-4700-3p HITS-CLIP 23313552
MIRT687586 hsa-miR-4779 HITS-CLIP 23313552
MIRT687585 hsa-miR-4436b-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 16682347
GO:0000785 Component Chromatin IEA
GO:0005515 Function Protein binding IPI 16682347, 16802858, 21934712, 22628566, 26496610, 28514442, 33961781
GO:0005634 Component Nucleus IDA 16682347, 16802858
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614560 29140 ENSG00000129933
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6X3
Protein name MAU2 chromatid cohesion factor homolog (MAU-2) (Cohesin loading complex subunit SCC4 homolog)
Protein function Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10345 Cohesin_load 23 570 Cohesin loading factor Family
Sequence
Sequence length 613
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   Cohesin Loading onto Chromatin
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 31118133
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 24618891
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASDB_DG 24618891
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of bladder Bladder carcinoma BEFREE 14633724
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 31500949
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 25973956
★☆☆☆☆
Found in Text Mining only
Cornelia De Lange Syndrome Cornelia De Lange Syndrome BEFREE 21934712
★☆☆☆☆
Found in Text Mining only
De Lange Syndrome De lange syndrome Pubtator 21934712, 32433956, 37962004 Associate
★☆☆☆☆
Found in Text Mining only
Fibrosarcoma Fibrosarcoma BEFREE 14633724
★☆☆☆☆
Found in Text Mining only
Hypercalcemia Hypercalcemia BEFREE 10708588
★☆☆☆☆
Found in Text Mining only