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MAU2 (MAU2 sister chromatid cohesion factor)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23383
Gene nameGene Name - the full gene name approved by the HGNC.
MAU2 sister chromatid cohesion factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MAU2
SynonymsGene synonyms aliases
KIAA0892, MAU2L, SCC4, mau-2
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cell cycle   Cohesin Loading onto Chromatin
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 30285260
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 24618891

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