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MAU2 (MAU2 sister chromatid cohesion factor)

Identity

Alias_namesKIAA0892
KIAA0892
MAU2 chromatid cohesion factor homolog (C. elegans)
Alias_symbol (synonym)MGC75361
mau-2
MAU2L
SCC4
Other alias
HGNC (Hugo) MAU2
LocusID (NCBI) 23383
Atlas_Id 68822
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 19320821 and ends at 19358754 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ERGIC1 (5q35.1) / MAU2 (19p13.11)MAU2 (19p13.11) / ATP6V0E1 (5q35.1)MAU2 (19p13.11) / MAU2 (19p13.11)
TBC1D24 (16p13.3) / MAU2 (19p13.11)ZFAS1 (20q13.13) / MAU2 (19p13.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MAU2   29140
Cards
Entrez_Gene (NCBI)MAU2  23383  MAU2 sister chromatid cohesion factor
AliasesKIAA0892; MAU2L; SCC4; mau-2
GeneCards (Weizmann)MAU2
Ensembl hg19 (Hinxton)ENSG00000129933 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129933 [Gene_View]  chr19:19320821-19358754 [Contig_View]  MAU2 [Vega]
ICGC DataPortalENSG00000129933
TCGA cBioPortalMAU2
AceView (NCBI)MAU2
Genatlas (Paris)MAU2
WikiGenes23383
SOURCE (Princeton)MAU2
Genetics Home Reference (NIH)MAU2
Genomic and cartography
GoldenPath hg38 (UCSC)MAU2  -     chr19:19320821-19358754 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAU2  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblMAU2 - 19p13.11 [CytoView hg19]  MAU2 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIMAU2 [Mapview hg19]  MAU2 [Mapview hg38]
OMIM614560   
Gene and transcription
Genbank (Entrez)AB020699 AK001349 AK025285 AK025896 AK098275
RefSeq transcript (Entrez)NM_015329
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAU2
Cluster EST : UnigeneHs.744479 [ NCBI ]
CGAP (NCI)Hs.744479
Alternative Splicing GalleryENSG00000129933
Gene ExpressionMAU2 [ NCBI-GEO ]   MAU2 [ EBI - ARRAY_EXPRESS ]   MAU2 [ SEEK ]   MAU2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAU2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23383
GTEX Portal (Tissue expression)MAU2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6X3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6X3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6X3
Splice isoforms : SwissVarQ9Y6X3
PhosPhoSitePlusQ9Y6X3
Domains : Interpro (EBI)MAU2    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)Cohesin_load (PF10345)   
Domain families : Pfam (NCBI)pfam10345   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)MAU2
DMDM Disease mutations23383
Blocks (Seattle)MAU2
SuperfamilyQ9Y6X3
Human Protein AtlasENSG00000129933
Peptide AtlasQ9Y6X3
HPRD11117
IPIIPI00000656   IPI00843937   IPI00790071   IPI01017954   IPI00384615   IPI00935784   IPI01010860   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6X3
IntAct (EBI)Q9Y6X3
FunCoupENSG00000129933
BioGRIDMAU2
STRING (EMBL)MAU2
ZODIACMAU2
Ontologies - Pathways
QuickGOQ9Y6X3
Ontology : AmiGOchromatin  double-stranded DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nuclear body  SMC loading complex  SMC loading complex  maintenance of mitotic sister chromatid cohesion  protein N-terminus binding  cell division  
Ontology : EGO-EBIchromatin  double-stranded DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nuclear body  SMC loading complex  SMC loading complex  maintenance of mitotic sister chromatid cohesion  protein N-terminus binding  cell division  
NDEx NetworkMAU2
Atlas of Cancer Signalling NetworkMAU2
Wikipedia pathwaysMAU2
Orthology - Evolution
OrthoDB23383
GeneTree (enSembl)ENSG00000129933
Phylogenetic Trees/Animal Genes : TreeFamMAU2
HOVERGENQ9Y6X3
HOGENOMQ9Y6X3
Homologs : HomoloGeneMAU2
Homology/Alignments : Family Browser (UCSC)MAU2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAU2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAU2
dbVarMAU2
ClinVarMAU2
1000_GenomesMAU2 
Exome Variant ServerMAU2
ExAC (Exome Aggregation Consortium)MAU2 (select the gene name)
Genetic variants : HAPMAP23383
Genomic Variants (DGV)MAU2 [DGVbeta]
DECIPHERMAU2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAU2 
Mutations
ICGC Data PortalMAU2 
TCGA Data PortalMAU2 
Broad Tumor PortalMAU2
OASIS PortalMAU2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAU2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAU2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MAU2
DgiDB (Drug Gene Interaction Database)MAU2
DoCM (Curated mutations)MAU2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAU2 (select a term)
intoGenMAU2
Cancer3DMAU2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614560   
Orphanet
MedgenMAU2
Genetic Testing Registry MAU2
NextProtQ9Y6X3 [Medical]
TSGene23383
GENETestsMAU2
Target ValidationMAU2
Huge Navigator MAU2 [HugePedia]
snp3D : Map Gene to Disease23383
BioCentury BCIQMAU2
ClinGenMAU2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23383
Chemical/Pharm GKB GenePA134991458
Clinical trialMAU2
Miscellaneous
canSAR (ICR)MAU2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAU2
EVEXMAU2
GoPubMedMAU2
iHOPMAU2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:26:59 CEST 2017

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