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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs780458213 RCV003127391
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
De Lange Syndrome Associate 21934712, 32433956, 37962004
Hyperlipidemias Associate 32568739
Non alcoholic Fatty Liver Disease Associate 26758378