MAU2 Gene
protein-coding GIFtS: 46
GCID: GC19P019433
|
|
MAU2 chromatid cohesion factor homolog (C. elegans)(Previous name: KIAA0892 )
(Previous symbol: KIAA0892)
| |
Aliases
for MAU2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| MAU2 Chromatid Cohesion Factor Homolog (C. Elegans)1 2 | | MGC753611 | | KIAA08921 2 3 | | MAU2 Chromatid Cohesion Factor Homolog2 | | SCC41 2 3 | | Protein MAU-22 | | MAU2L1 2 | | Sister Chromatid Cohesion 42 | | Mau-21 | | MAU-23 | | Cohesin Loading Complex Subunit SCC4 Homolog2 3 | | |
Export aliases for MAU2 gene to outside databasesPrevious GC identifer: GC19P018994 |
Summaries
for MAU2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3Function: Required for association of the cohesin complex with chromatin during interphase. Plays a role in sisterchromatid cohesion and normal progression through prometaphase
|
Genomic Views
for MAU2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011295.11
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MAU2
Other transcription factors
Search SABiosciences Chromatin IP Primers for MAU2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAU2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.11MAU2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P019433: view genomic region
(about GC identifiers)
Start:
|
19,431,490 bp from pter |
End:
|
19,469,564 bp from pter |
Size:
|
38,075 bases |
Orientation:
|
plus strand |
|
Proteins
for MAU2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3 (See
protein sequence)Recommended Name: MAU2 chromatid cohesion factor homolog Size: 613 amino acids; 69082 Da
Subunit: Interacts (via N-terminus) with NIPBL to form the cohesin loading complex
Subcellular location: Nucleus, nucleoplasm. Note=Binds to chromatin from the end of mitosis until prophase
Sequence caution: Sequence=BAA74915.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q66PT1 Q6P3S7 Q6ZTT2 Q9UFX8Alternative splicing: 3 isoforms: Q9Y6X3-1 Q9Y6X3-2 Q9Y6X3-3 Explore the universe of human proteins at neXtProt for MAU2: NX_Q9Y6X3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y6X3
MAU2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_056144.3
ENSEMBL proteins: ENSP00000376127 ENSP00000262815 Reactome Protein details: Q9Y6X3
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MAU2 for ontologies About GeneDecksing
MAU2 Antibody Products:
Assay Products for MAU2: |
Protein
Domains /
Families
for MAU2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MAU2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y6X3ProtoNet protein and cluster: Q9Y6X3 UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3Similarity: Belongs to the SCC4/mau-2 familySimilarity: Contains 4 TPR repeats |
Function
for MAU2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3Function: Required for association of the cohesin complex with chromatin during interphase. Plays a role in sisterchromatid cohesion and normal progression through prometaphase
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAU2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAU2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MAU2 (NM_015329) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAU2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAU2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAU2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
MAU2 for ontologies About GeneDecksing
|
Pathways & Interactions
for MAU2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | M Phase | | | 2 | Cell Cycle | | | 3 | Cohesin Loading onto Chromatin | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for MAU2 (see all 6)
MAU2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAU2
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for MAU2 (Q9Y6X33 ENSP000003761274) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0034088 | maintenance of mitotic sister chromatid cohesion |
IMP | 16802858 | | GO:0051301 | cell division |
IEA | -- |
MAU2 for ontologies About GeneDecksing
|
Drugs & Compounds
for MAU2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MAU2
Search CenterWatch for drugs/clinical trials and news about MAU2 / SCC4
|
Transcripts
for MAU2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MAU2 gene: NM_015329.3 Unigene Cluster for MAU2: MAU2 chromatid cohesion factor homolog (C. elegans) Hs.654939 [show with all ESTs]Unigene Representative Sequence: NM_01532917 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000392313(uc002nmk.4) ENST00000586189 ENST00000592069 ENST00000585823
ENST00000589747 ENST00000590837 ENST00000585774 ENST00000262816 ENST00000587938
ENST00000587638 ENST00000587362 ENST00000587709 ENST00000589947 ENST00000590882
ENST00000499453 ENST00000589637 ENST00000262815(uc002nml.4 uc010ecd.3 uc010ece.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAU2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAU2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MAU2 (NM_015329) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAU2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAU2 |
Additional cDNA sequence: AB020699.1 AK001349.1 AK025896.1 AK098275.1 AK125914.1 AK126227.1 AK128029.1 AL110250.1 BC010222.1 BC063863.1 24/25 DOTS entries (see all 25): DT.451702 DT.100025463 DT.70103312 DT.95243372 DT.97815064 DT.101984273 DT.100025462 DT.100779923 DT.97836753 DT.100779927 DT.92020670 DT.100779928 DT.75181304 DT.121492900 DT.100690517 DT.121492616 DT.121492800 DT.121492825 DT.100766856 DT.121492735 DT.92436040 DT.95342267 DT.99955923 DT.95165279 24/277 AceView cDNA sequences (see all 277): AA576754 CA436203 AL040221 BM666777 AI625466 CD671155 CK905164 AL709585 CD515841 T16104 H98961 BI492808 H13991 AI916424 AK126227 BM313728 BM979259 BM694989 AW179131 AL042074 AI073860 CA423498 AI160434 BU617329
GeneLoc Exon Structure
|
Expression
for MAU2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MAU2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCACCCTGT
About this image
See MAU2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MAU2
SOURCE GeneReport for Unigene cluster: Hs.654939
SABiosciences Custom PCR Arrays for MAU2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAU2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MAU2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAU2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAU2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAU2 |
Orthologs
for MAU2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MAU2 gene from 9/23 species (see all 23) About this table
ENSEMBL Gene Tree for MAU2 (if available)
TreeFam Gene Tree for MAU2 (if available) |
Paralogs
for MAU2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MAU2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MAU2 (19431490 - 19469564 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MAU2: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAU2 |
|
Disorders
/ Diseases
for MAU2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MAU2 for disorders About GeneDecksing
OMIM gene information: 614560
OMIM disorders: --
3  diseases for MAU2: About MalaCardscornelia de lange syndrome tongue cancer neuronitis
1 disease from the University of Copenhagen DISEASES database for MAU2:Tongue cancer Export disorders for MAU2 gene to outside databases
|
Publications
for MAU2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MAU2 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with MAU2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T....Ohara O. (1998)
- Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. (PubMed id 16802858)1, 2 Seitan V.C....Strachan T. (2006)
- Human Scc4 is required for cohesin binding to chromatin, sister- chromatid cohesion, and mitotic progression. (PubMed id 16682347)1, 2 Watrin E....Peters J.M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. (PubMed id 21934712)1 Braunholz D....Kaiser F.J. (2012)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
|
External Searches for MAU2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MAU2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MAU2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing MAU2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MAU2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MAU2 gene:
Search GeneIP for patents involving MAU2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MAU2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MAU2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAU2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAU2 | | | OriGene Protein Over-expression Lysate for MAU2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MAU2 | | OriGene 3'-UTR Clone for MAU2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAU2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAU2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MAU2 | | OriGene Custom Protein Services for MAU2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MAU2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAU2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAU2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAU2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAU2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAU2 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for MAU2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | MAU2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAU2 |
|  |  |  | | | | Search ThermoFisher Antibodies for MAU2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAU2 |
|
|
|
|
