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
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
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
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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
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.6UCSC ID: ENST00000262815.13RefSeq Accession: NM_015329
Protein: Q9Y6X3
(aka SCC4_HUMAN)
CCDS: CCDS32969.2
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.