Human Gene MAU2 (ENST00000262815.13) from GENCODE V44
  Description: Homo sapiens MAU2 sister chromatid cohesion factor (MAU2), mRNA. (from RefSeq NM_015329)
Gencode Transcript: ENST00000262815.13
Gencode Gene: ENSG00000129933.21
Transcript (Including UTRs)
   Position: hg38 chr19:19,320,829-19,358,754 Size: 37,926 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chr19:19,320,860-19,355,782 Size: 34,923 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:19,320,829-19,358,754)mRNA (may differ from genome)Protein (613 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCC4_HUMAN
DESCRIPTION: RecName: Full=MAU2 chromatid cohesion factor homolog; Short=MAU-2; AltName: Full=Cohesin loading complex subunit SCC4 homolog;
FUNCTION: Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister chromatid cohesion and normal progression through prometaphase.
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.
SIMILARITY: Belongs to the SCC4/mau-2 family.
SIMILARITY: Contains 4 TPR repeats.
SEQUENCE CAUTION: Sequence=BAA74915.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAU2
Diseases sorted by gene-association score: cornelia de lange syndrome (7), warsaw breakage syndrome (5), oral cavity cancer (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.35 RPKM in Brain - Cerebellum
Total median expression: 796.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.9031-0.319 Picture PostScript Text
3' UTR -1173.402972-0.395 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019440 - Cohesin_loading_factor
IPR011990 - TPR-like_helical

Pfam Domains:
PF10345 - Cohesin loading factor

ModBase Predicted Comparative 3D Structure on Q9Y6X3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003690 double-stranded DNA binding
GO:0005515 protein binding
GO:0047485 protein N-terminus binding

Biological Process:
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0007064 mitotic sister chromatid cohesion
GO:0034088 maintenance of mitotic sister chromatid cohesion
GO:0051301 cell division
GO:0071921 cohesin loading

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0016604 nuclear body
GO:0032116 SMC loading complex
GO:0090694 Scc2-Scc4 cohesin loading complex


-  Descriptions from all associated GenBank mRNAs
  AK025285 - Homo sapiens cDNA: FLJ21632 fis, clone COL08164.
AB020699 - Homo sapiens KIAA0892 mRNA for KIAA0892 protein.
AB385396 - Synthetic construct DNA, clone: pF1KA0892, Homo sapiens KIAA0892 gene for KIAA0892 protein, complete cds, without stop codon, in Flexi system.
AK025896 - Homo sapiens cDNA: FLJ22243 fis, clone HRC02533.
AK128029 - Homo sapiens cDNA FLJ46148 fis, clone TESTI4000600.
BC063863 - Homo sapiens KIAA0892, mRNA (cDNA clone IMAGE:6182034).
BC010222 - Homo sapiens KIAA0892, mRNA (cDNA clone IMAGE:3452366), partial cds.
CU687840 - Synthetic construct Homo sapiens gateway clone IMAGE:100022796 5' read KIAA0892 mRNA.
KJ902338 - Synthetic construct Homo sapiens clone ccsbBroadEn_11732 MAU2 gene, encodes complete protein.
AL110250 - Homo sapiens mRNA; cDNA DKFZp434P101 (from clone DKFZp434P101).
AK001349 - Homo sapiens cDNA FLJ10487 fis, clone NT2RP2000208, highly similar to Homo sapiens mRNA for KIAA0892 protein.
AK126227 - Homo sapiens cDNA FLJ44239 fis, clone THYMU3008171.
AK125914 - Homo sapiens cDNA FLJ43926 fis, clone TESTI4012556.
AK098275 - Homo sapiens cDNA FLJ40956 fis, clone UTERU2011410.
JD050895 - Sequence 31919 from Patent EP1572962.
JD159147 - Sequence 140171 from Patent EP1572962.
JD538248 - Sequence 519272 from Patent EP1572962.
JD216417 - Sequence 197441 from Patent EP1572962.
JD343922 - Sequence 324946 from Patent EP1572962.
JD050569 - Sequence 31593 from Patent EP1572962.
JD131923 - Sequence 112947 from Patent EP1572962.
JD270693 - Sequence 251717 from Patent EP1572962.
JD365472 - Sequence 346496 from Patent EP1572962.
JD383040 - Sequence 364064 from Patent EP1572962.
JD152821 - Sequence 133845 from Patent EP1572962.
JD147683 - Sequence 128707 from Patent EP1572962.
JD112845 - Sequence 93869 from Patent EP1572962.
JD282272 - Sequence 263296 from Patent EP1572962.
JD355204 - Sequence 336228 from Patent EP1572962.
JD425021 - Sequence 406045 from Patent EP1572962.
JD468839 - Sequence 449863 from Patent EP1572962.
JD261377 - Sequence 242401 from Patent EP1572962.
JD086700 - Sequence 67724 from Patent EP1572962.
JD105246 - Sequence 86270 from Patent EP1572962.
JD381407 - Sequence 362431 from Patent EP1572962.
JD098900 - Sequence 79924 from Patent EP1572962.
JD417103 - Sequence 398127 from Patent EP1572962.
JD236355 - Sequence 217379 from Patent EP1572962.
JD231688 - Sequence 212712 from Patent EP1572962.
JD219406 - Sequence 200430 from Patent EP1572962.
JD050782 - Sequence 31806 from Patent EP1572962.
JD539225 - Sequence 520249 from Patent EP1572962.
JD422718 - Sequence 403742 from Patent EP1572962.
DQ588756 - Homo sapiens piRNA piR-55868, complete sequence.
JD184023 - Sequence 165047 from Patent EP1572962.
JD485044 - Sequence 466068 from Patent EP1572962.
JD508196 - Sequence 489220 from Patent EP1572962.
JD218550 - Sequence 199574 from Patent EP1572962.
JD369991 - Sequence 351015 from Patent EP1572962.
JD320094 - Sequence 301118 from Patent EP1572962.
JD080766 - Sequence 61790 from Patent EP1572962.
JD492442 - Sequence 473466 from Patent EP1572962.
JD485337 - Sequence 466361 from Patent EP1572962.
JD204999 - Sequence 186023 from Patent EP1572962.
JD393660 - Sequence 374684 from Patent EP1572962.
JD252293 - Sequence 233317 from Patent EP1572962.
JD382450 - Sequence 363474 from Patent EP1572962.
JD157123 - Sequence 138147 from Patent EP1572962.
JD050798 - Sequence 31822 from Patent EP1572962.
JD250292 - Sequence 231316 from Patent EP1572962.
JD229323 - Sequence 210347 from Patent EP1572962.
JD306832 - Sequence 287856 from Patent EP1572962.
JD322066 - Sequence 303090 from Patent EP1572962.
JD461201 - Sequence 442225 from Patent EP1572962.
JD455105 - Sequence 436129 from Patent EP1572962.
JD378252 - Sequence 359276 from Patent EP1572962.
JD136093 - Sequence 117117 from Patent EP1572962.
JD243159 - Sequence 224183 from Patent EP1572962.
JD471550 - Sequence 452574 from Patent EP1572962.
JD178636 - Sequence 159660 from Patent EP1572962.
JD326911 - Sequence 307935 from Patent EP1572962.
JD430922 - Sequence 411946 from Patent EP1572962.
JD558740 - Sequence 539764 from Patent EP1572962.
JD558739 - Sequence 539763 from Patent EP1572962.
JD532223 - Sequence 513247 from Patent EP1572962.
JD532222 - Sequence 513246 from Patent EP1572962.
JD442915 - Sequence 423939 from Patent EP1572962.
JD442914 - Sequence 423938 from Patent EP1572962.
JD335303 - Sequence 316327 from Patent EP1572962.
JD335305 - Sequence 316329 from Patent EP1572962.
JD335304 - Sequence 316328 from Patent EP1572962.
JD457108 - Sequence 438132 from Patent EP1572962.
JD388068 - Sequence 369092 from Patent EP1572962.
JD388069 - Sequence 369093 from Patent EP1572962.
JD118228 - Sequence 99252 from Patent EP1572962.
JD180331 - Sequence 161355 from Patent EP1572962.
JD177331 - Sequence 158355 from Patent EP1572962.
JD377644 - Sequence 358668 from Patent EP1572962.
JD088650 - Sequence 69674 from Patent EP1572962.
JD523315 - Sequence 504339 from Patent EP1572962.
JD406562 - Sequence 387586 from Patent EP1572962.
JD059749 - Sequence 40773 from Patent EP1572962.
JD155949 - Sequence 136973 from Patent EP1572962.
JD534881 - Sequence 515905 from Patent EP1572962.
JD366733 - Sequence 347757 from Patent EP1572962.
JD518039 - Sequence 499063 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y6X3 (Reactome details) participates in the following event(s):

R-HSA-2470935 Cohesin binding to decondensed chromatin is facilitated by NIPBL:MAU2
R-HSA-2470946 Cohesin Loading onto Chromatin
R-HSA-68884 Mitotic Telophase/Cytokinesis
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000262815.1, ENST00000262815.10, ENST00000262815.11, ENST00000262815.12, ENST00000262815.2, ENST00000262815.3, ENST00000262815.4, ENST00000262815.5, ENST00000262815.6, ENST00000262815.7, ENST00000262815.8, ENST00000262815.9, KIAA0892, NM_015329, Q66PT1, Q6P3S7, Q6ZTT2, Q9UFX8, Q9Y6X3, SCC4, SCC4_HUMAN, uc002nmk.1, uc002nmk.2, uc002nmk.3, uc002nmk.4, uc002nmk.5, uc002nmk.6
UCSC ID: ENST00000262815.13
RefSeq Accession: NM_015329
Protein: Q9Y6X3 (aka SCC4_HUMAN)
CCDS: CCDS32969.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.