Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23383
Gene name Gene Name - the full gene name approved by the HGNC.
MAU2 sister chromatid cohesion factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAU2
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA0892, MAU2L, SCC4, mau-2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA 21873635
GO:0000785 Component Chromatin IDA 16682347
GO:0003690 Function Double-stranded DNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 16682347, 16802858, 21934712, 22628566, 26496610
GO:0005634 Component Nucleus IDA 16682347, 16802858
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614560 29140 ENSG00000129933
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Bipolar Disorder Bipolar Disorder GWAS
Alzheimer disease Alzheimer disease GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
De Lange Syndrome Associate 21934712, 32433956, 37962004
Hyperlipidemias Associate 32568739
Non alcoholic Fatty Liver Disease Associate 26758378