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Tdark MAU2 chromatid cohesion factor homolog

Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister chromatid cohesion and normal progression through prometaphase.

 Comments

Property Summary

NCBI Gene PubMed Count 13
Grant Count 20
R01 Count 13
Funding $2,413,576.47
PubMed Score 87.41
PubTator Score 74.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (3)

Disease Z-score Confidence
Cornelia de Lange syndrome 21 4.374 2.2
Cancer 2,346 4.156 2.1
Bipolar Disorder 266

Expression

Synonym

Accession Q9Y6X3 Q66PT1 Q6P3S7 Q6ZTT2 Q9UFX8 MAU-2
Symbols SCC4
MAU2L
mau-2
KIAA0892

Gene

MAU2

 Grant Application (20)

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 GO Function (1)

 GO Component (4)

 GO Process (2)

 Compartment GO Term (29)

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 IMPC Term (2)

 MGI Term (10)

 GWAS Trait (3)

Pathway (6)

 UniProt Keyword (11)

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Gene RIF (3)

PMID Text
21934712 specific novel mutations at the N-terminus of the MAU2-interacting domain of NIBPL result in markedly reduced MAU2 binding.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
16682347 Human MAU-2 family member has weak similarity to yeast Scc4 and is associated with Scc2, bound to chromatin from telophase until prophase, and required for association of cohesin with chromatin during interphase

AA Sequence 

MAAQAAAAAQAAAAQAAQAEAADSWYLALLGFAEHFRTSSPPKIRLCVHCLQAVFPFKPPQRIEARTHLQ      1 - 70
LGSVLYHHTKNSEQARSHLEKAWLISQQIPQFEDVKFEAASLLSELYCQENSVDAAKPLLRKAIQISQQT     71 - 140
PYWHCRLLFQLAQLHTLEKDLVSACDLLGVGAEYARVVGSEYTRALFLLSKGMLLLMERKLQEVHPLLTL    141 - 210
CGQIVENWQGNPIQKESLRVFFLVLQVTHYLDAGQVKSVKPCLKQLQQCIQTISTLHDDEILPSNPADLF    211 - 280
HWLPKEHMCVLVYLVTVMHSMQAGYLEKAQKYTDKALMQLEKLKMLDCSPILSSFQVILLEHIIMCRLVT    281 - 350
GHKATALQEISQVCQLCQQSPRLFSNHAAQLHTLLGLYCVSVNCMDNAEAQFTTALRLTNHQELWAFIVT    351 - 420
NLASVYIREGNRHQEVLYSLLERINPDHSFPVSSHCLRAAAFYVRGLFSFFQGRYNEAKRFLRETLKMSN    421 - 490
AEDLNRLTACSLVLLGHIFYVLGNHRESNNMVVPAMQLASKIPDMSVQLWSSALLRDLNKACGNAMDAHE    491 - 560
AAQMHQNFSQQLLQDHIEACSLPEHNLITWTDGPPPVQFQAQNGPNTSLASLL                     561 - 613
//

Text Mined References (15)

PMID Year Title
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24618891 2014 Genome-wide association study reveals two new risk loci for bipolar disorder.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
21934712 2012 Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16802858 2006 Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance.
16682347 2006 Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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