Aliases for MAU2 Gene

Aliases for MAU2 Gene

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

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 Tongue Disease and Cornelia De Lange Syndrome. Among its related pathways are Cell Cycle, Mitotic and Mitotic Telophase/Cytokinesis. Gene Ontology (GO) annotations related to this gene include protein N-terminus binding.

UniProtKB/Swiss-Prot Summary for MAU2 Gene

  • Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347).

Additional gene information for MAU2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAU2 Gene

Genomics for MAU2 Gene

GeneHancer (GH) Regulatory Elements for MAU2 Gene

Promoters and enhancers for MAU2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAU2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MAU2 Gene

Genomic Locations for MAU2 Gene
chr19:19,320,817-19,358,754
(GRCh38/hg38)
Size:
37,938 bases
Orientation:
Plus strand
chr19:19,431,490-19,469,563
(GRCh37/hg19)
Size:
38,074 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:
    • Heterodimerizes with MAU2/SCC2 to form the cohesin loading complex (PubMed:16682347, PubMed:16802858, PubMed:21934712, PubMed:28167679, PubMed:22628566). The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3 heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21 and STAG1 (PubMed:22628566).
    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

Post-translational modifications for MAU2 Gene

  • Ubiquitination at Lys80, Lys91, and Lys353
  • Modification sites at PhosphoSitePlus

Other Protein References for MAU2 Gene

No data available for DME Specific Peptides for MAU2 Gene

Domains & Families for MAU2 Gene

Gene Families for MAU2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MAU2 Gene

Suggested Antigen Peptide Sequences for MAU2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ46148 fis, clone TESTI4000600 (Q6ZRS3_HUMAN)
  • Cohesin loading complex subunit SCC4 homolog (SCC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6X3

UniProtKB/Swiss-Prot:

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

Function for MAU2 Gene

Molecular function for MAU2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347).

Phenotypes From GWAS Catalog for MAU2 Gene

Gene Ontology (GO) - Molecular Function for MAU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IBA 21873635
GO:0005515 protein binding IPI,IEA 16682347
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:
  • Mau2 Mau2<tm1b(KOMP)Wtsi>
  • Mau2 Mau2<tm1.2Hpt>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAU2

Clone 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. Nucleus. Chromosome. Note=Binds to chromatin from the end of mitosis until prophase.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAU2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 16682347
GO:0005634 nucleus IEA,IDA 16682347
GO:0005654 nucleoplasm IDA,TAS --
GO:0005694 chromosome IEA --
GO:0016604 nuclear body IDA --
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

Gene Ontology (GO) - Biological Process for MAU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007064 mitotic sister chromatid cohesion IEA --
GO:0034088 maintenance of mitotic sister chromatid cohesion IMP,IBA 16682347
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

mRNA/cDNA for MAU2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAU2

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAU2 Gene



Protein tissue co-expression partners for MAU2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAU2 Gene:

MAU2

SOURCE GeneReport for Unigene cluster for MAU2 Gene:

Hs.654939

Evidence on tissue expression from TISSUES for MAU2 Gene

  • Nervous system(4.7)
  • Skin(2.5)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with MAU2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MAU2 33 32
  • 99.73 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAU2 33
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAU2 33
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAU2 33 32
  • 92.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAU2 33 32
  • 91.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mau2 17 33 32
  • 90.23 (n)
rat
(Rattus norvegicus)
Mammalia Mau2 32
  • 89.6 (n)
chicken
(Gallus gallus)
Aves MAU2 33 32
  • 82.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAU2 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mau2 32
  • 79.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29950 32
zebrafish
(Danio rerio)
Actinopterygii mau2 33 32
  • 79.6 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001363 32
  • 59.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4203 33 32
  • 59.09 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mau-2 33 32
  • 35.96 (n)
OneToOne
Species where no ortholog for MAU2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAU2: view image

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 Variation AA Info Type
rs1000004924 -- 19,324,659(+) CTCCT/CT intron_variant
rs1000135091 -- 19,353,151(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000229601 -- 19,346,569(+) G/T intron_variant
rs1000264451 -- 19,335,184(+) T/G intron_variant
rs1000380059 -- 19,335,862(+) G/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv1173984 CNV insertion 17803354
esv3643849 CNV loss 21293372
esv3643850 CNV loss 21293372
nsv1056419 CNV gain 25217958
nsv952425 CNV deletion 24416366

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)

Additional Variant Information for MAU2 Gene

Human Gene Mutation Database (HGMD)
MAU2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAU2

SNP Genotyping and Copy Number Assay Products

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

Disorders for MAU2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MAU2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
tongue disease
  • abnormality of the tongue
cornelia de lange syndrome
  • cdls
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

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  2. Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. (PMID: 28167679) Bot C … Ström L (Journal of cell science 2017) 3 4 56
  3. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. (PMID: 21934712) Braunholz D … Kaiser FJ (European journal of human genetics : EJHG 2012) 3 4 56
  4. In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex. (PMID: 22628566) Bermudez VP … Hurwitz J (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 56
  5. Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression. (PMID: 16682347) Watrin E … Peters JM (Current biology : CB 2006) 3 4 56

Products for MAU2 Gene

Sources for MAU2 Gene