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Aliases for MAU2 Gene

Aliases for MAU2 Gene

  • MAU2 Sister Chromatid Cohesion Factor 2 3
  • KIAA0892 2 3 4
  • Cohesin Loading Complex Subunit SCC4 Homolog 3 4
  • MAU2, Sister Chromatid Cohesion Factor 3 5
  • Sister Chromatid Cohesion 4 2 3
  • Mau-2 3 4
  • SCC4 3 4
  • MAU2 Chromatid Cohesion Factor Homolog (C. Elegans) 2
  • Protein MAU-2 3
  • MAU2L 3

External Ids for MAU2 Gene

Previous HGNC Symbols for MAU2 Gene

  • KIAA0892

Previous GeneCards Identifiers for MAU2 Gene

  • GC19P018994
  • GC19P019433

Summaries for MAU2 Gene

GeneCards Summary for MAU2 Gene

MAU2 (MAU2 Sister Chromatid Cohesion Factor) is a Protein Coding gene. Diseases associated with MAU2 include cornelia de lange syndrome and oral cavity cancer. Among its related pathways are Cell Cycle, Mitotic and Mitotic Telophase/Cytokinesis. GO annotations related to this gene include protein N-terminus binding.

UniProtKB/Swiss-Prot for MAU2 Gene

  • Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister chromatid cohesion and normal progression through prometaphase.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAU2 Gene

Genomics for MAU2 Gene

Regulatory Elements for MAU2 Gene

Enhancers for MAU2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAU2 on UCSC Golden Path with GeneCards custom track

Promoters for MAU2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAU2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAU2 Gene

Chromosome:
19
Start:
19,320,681 bp from pter
End:
19,358,755 bp from pter
Size:
38,075 bases
Orientation:
Plus strand

Genomic View for MAU2 Gene

Genes around MAU2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAU2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAU2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAU2 Gene

Proteins for MAU2 Gene

  • Protein details for MAU2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6X3-SCC4_HUMAN
    Recommended name:
    MAU2 chromatid cohesion factor homolog
    Protein Accession:
    Q9Y6X3
    Secondary Accessions:
    • Q66PT1
    • Q6P3S7
    • Q6ZTT2
    • Q9UFX8

    Protein attributes for MAU2 Gene

    Size:
    613 amino acids
    Molecular mass:
    69082 Da
    Quaternary structure:
    • Interacts (via N-terminus) with NIPBL to form the cohesin loading complex.
    SequenceCaution:
    • Sequence=BAA74915.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAU2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAU2 Gene

Proteomics data for MAU2 Gene at MOPED

Post-translational modifications for MAU2 Gene

  • Ubiquitination at Lys 80, Lys 91, and Lys 353
  • Modification sites at PhosphoSitePlus

Other Protein References for MAU2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAU2 Gene

Domains & Families for MAU2 Gene

Protein Domains for MAU2 Gene

Suggested Antigen Peptide Sequences for MAU2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6X3

UniProtKB/Swiss-Prot:

SCC4_HUMAN :
  • Belongs to the SCC4/mau-2 family.
  • Contains 4 TPR repeats.
Family:
  • Belongs to the SCC4/mau-2 family.
Similarity:
  • Contains 4 TPR repeats.
genes like me logo Genes that share domains with MAU2: view

No data available for Gene Families for MAU2 Gene

Function for MAU2 Gene

Molecular function for MAU2 Gene

UniProtKB/Swiss-Prot Function:
Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister chromatid cohesion and normal progression through prometaphase.

Gene Ontology (GO) - Molecular Function for MAU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0047485 protein N-terminus binding IPI 16802858
genes like me logo Genes that share ontologies with MAU2: view
genes like me logo Genes that share phenotypes with MAU2: view

Animal Models for MAU2 Gene

MGI Knock Outs for MAU2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAU2 Gene

Localization for MAU2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAU2 Gene

Nucleus, nucleoplasm. Note=Binds to chromatin from the end of mitosis until prophase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAU2 Gene COMPARTMENTS Subcellular localization image for MAU2 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MAU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032116 SMC loading complex IMP 16802858
genes like me logo Genes that share ontologies with MAU2: view

Pathways & Interactions for MAU2 Gene

genes like me logo Genes that share pathways with MAU2: view

Pathways by source for MAU2 Gene

Interacting Proteins for MAU2 Gene

Selected Interacting proteins: Q9Y6X3-SCC4_HUMAN for MAU2 Gene via I2D

Symbol External ID(s) Details
NIPBL

Gene Ontology (GO) - Biological Process for MAU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with MAU2: view

No data available for SIGNOR curated interactions for MAU2 Gene

Drugs & Compounds for MAU2 Gene

No Compound Related Data Available

Transcripts for MAU2 Gene

Unigene Clusters for MAU2 Gene

MAU2 chromatid cohesion factor homolog (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAU2 Gene

No ASD Table

Relevant External Links for MAU2 Gene

GeneLoc Exon Structure for
MAU2
ECgene alternative splicing isoforms for
MAU2

Expression for MAU2 Gene

mRNA expression in normal human tissues for MAU2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAU2 Gene

This gene is overexpressed in Monocytes (15.2), Placenta (12.6), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for MAU2 Gene



SOURCE GeneReport for Unigene cluster for MAU2 Gene Hs.654939

genes like me logo Genes that share expression patterns with MAU2: view

Protein tissue co-expression partners for MAU2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MAU2 Gene

Orthologs for MAU2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAU2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAU2 35
  • 92.55 (n)
  • 99.67 (a)
MAU2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAU2 35
  • 91.84 (n)
  • 99.67 (a)
MAU2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mau2 35
  • 90.23 (n)
  • 99.83 (a)
Mau2 16
Mau2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAU2 35
  • 99.73 (n)
  • 100 (a)
MAU2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mau2 35
  • 89.6 (n)
  • 99.84 (a)
oppossum
(Monodelphis domestica)
Mammalia MAU2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAU2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAU2 35
  • 82.6 (n)
  • 97.29 (a)
MAU2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAU2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mau2 35
  • 79.21 (n)
  • 97.46 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29950 35
zebrafish
(Danio rerio)
Actinopterygii mau2 35
  • 79.6 (n)
  • 87.34 (a)
mau2 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001363 35
  • 59.64 (n)
  • 51.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4203 35
  • 59.09 (n)
  • 51.39 (a)
CG4203 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mau-2 35
  • 35.96 (n)
  • 24.36 (a)
mau-2 36
  • 21 (a)
OneToOne
Species with no ortholog for MAU2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAU2 Gene

ENSEMBL:
Gene Tree for MAU2 (if available)
TreeFam:
Gene Tree for MAU2 (if available)

Paralogs for MAU2 Gene

No data available for Paralogs for MAU2 Gene

Variants for MAU2 Gene

Sequence variations from dbSNP and Humsavar for MAU2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs769267 -- 19,336,127(+) ATCCC(A/G)CAGTT intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs7258923 -- 19,328,306(+) CAGGC(C/T)CTATG intron-variant
rs12982276 -- 19,348,991(+) CTCTT(C/T)GGTTG intron-variant
rs8102280 -- 19,344,941(+) CCTGT(A/G)ACAAC intron-variant
rs8103197 -- 19,332,657(+) CTCAC(C/T)AGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAU2 Gene

Variant ID Type Subtype PubMed ID
nsv911303 CNV Loss 21882294
nsv911305 CNV Loss 21882294
esv1173984 CNV Insertion 17803354

Variation tolerance for MAU2 Gene

Residual Variation Intolerance Score: 6.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAU2 Gene

HapMap Linkage Disequilibrium report
MAU2
Human Gene Mutation Database (HGMD)
MAU2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAU2 Gene

Disorders for MAU2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAU2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome
  • brachmann de lange syndrome
oral cavity cancer
  • malignant neoplasm of anterior portion of floor of mouth
- elite association - COSMIC cancer census association via MalaCards
Search MAU2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MAU2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAU2
genes like me logo Genes that share disorders with MAU2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAU2 Gene

Publications for MAU2 Gene

  1. 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. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  5. Genome-wide association study reveals two new risk loci for bipolar disorder. (PMID: 24618891) MA1hleisen T.W. … Cichon S. (Nat Commun 2014) 3

Products for MAU2 Gene

Sources for MAU2 Gene

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