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
Disease | Target Count |
---|---|
Bipolar Disorder | 266 |
Species | Source |
---|---|
Mouse | OMA Inparanoid |
Rat | OMA Inparanoid |
Dog | OMA Inparanoid |
Horse | OMA Inparanoid |
Cow | OMA Inparanoid |
Opossum | OMA Inparanoid |
Platypus | OMA Inparanoid |
Chicken | OMA Inparanoid |
Xenopus | OMA Inparanoid |
C. elegans | OMA Inparanoid |
Fruitfly | OMA Inparanoid |
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 |
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 //
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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