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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
|