MAU2
entrez
23383
canonical
uniprot
Q9Y6X3
canonical
ensembl
ENSG00000129933
resolver
ensp
ENSP00000262815
resolver
ensp
ENSP00000613234
resolver
ensp
ENSP00000664184
resolver
genesymbol
MAU2
resolver
genesymbol_syn
KIAA0892
resolver
genesymbol_syn
SCC4
resolver
hgnc
HGNC:29140
resolver
uniprot
Q66PT1
resolver
uniprot
Q6P3S7
resolver
uniprot
Q6ZTT2
resolver
uniprot
Q9UFX8
resolver
uniprot_entry
SCC4_HUMAN
resolver
uniprot_sec
Q66PT1
resolver
uniprot_sec
Q6P3S7
resolver
uniprot_sec
Q6ZTT2
resolver
uniprot_sec
Q9UFX8
resolver
amino_acid_sequence
MAAQAAAAAQAAAAQAAQAEAADSWYLALLGFAEHFRTSSPPKIRLCVHCLQAVFPFKPPQRIEARTHLQLGSVLYHHTKNSEQARSHLEKAWLISQQIPQFEDVKFEAASLLSELYCQENSVDAAKPLLRKAIQISQQTPYWHCRLLFQLAQLHTLEKDLVSACDLLGVGAEYARVVGSEYTRALFLLSKGMLLLMERKLQEVHPLLTLCGQIVENWQGNPIQKESLRVFFLVLQVTHYLDAGQVKSVKPCLKQLQQCIQTISTLHDDEILPSNPADLFHWLPKEHMCVLVYLVTVMHSMQAGYLEKAQKYTDKALMQLEKLKMLDCSPILSSFQVILLEHIIMCRLVTGHKATALQEISQVCQLCQQSPRLFSNHAAQLHTLLGLYCVSVNCMDNAEAQFTTALRLTNHQELWAFIVTNLASVYIREGNRHQEVLYSLLERINPDHSFPVSSHCLRAAAFYVRGLFSFFQGRYNEAKRFLRETLKMSNAEDLNRLTACSLVLLGHIFYVLGNHRESNNMVVPAMQLASKIPDMSVQLWSSALLRDLNKACGNAMDAHEAAQMHQNFSQQLLQDHIEACSLPEHNLITWTDGPPPVQFQAQNGPNTSLASLL
uniprot
proteins
disease_involvement
DISEASE: Cornelia de Lange syndrome 7 (CDLS7) [MIM:621570]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. CDLS7 is an autosomal dominant form with features ranging from classical Cornelia de Lange syndrome to milder presentations, with short stature and microcephaly as major characteristics. {ECO:0000269|PubMed:21934712, ECO:0000269|PubMed:32433956, ECO:0000269|PubMed:37962004, ECO:0000269|PubMed:41912533}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, PubMed:28167679). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16682347, PubMed:16802858). {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679}.
uniprot
proteins
mass_dalton
69082
uniprot
proteins
protein_family
SCC4/mau-2 family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16682347
uniprot
proteins
pubmed
16802858
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21934712
uniprot
proteins
pubmed
22628566
uniprot
proteins
pubmed
28167679
uniprot
proteins
pubmed
32433956
uniprot
proteins
pubmed
37962004
uniprot
proteins
pubmed
39742660
uniprot
proteins
pubmed
41912533
uniprot
proteins
sequence_length
613
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858}. Nucleus {ECO:0000269|PubMed:28167679}. Chromosome {ECO:0000250|UniProtKB:Q9D2X5}. Note=Binds to chromatin from the end of mitosis until prophase.
uniprot
proteins