Details for: MAU2

Gene ID: 23383

Symbol: MAU2

Ensembl ID: ENSG00000129933

Description: MAU2 sister chromatid cohesion factor

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuron (CL0000540)
    Fold Change: 1.55
    Marker Score: 6,316
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.46
    Marker Score: 55,289
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.45
    Marker Score: 21,631
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.45
    Marker Score: 13,598
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.44
    Marker Score: 5,579
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.41
    Marker Score: 10,806
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.39
    Marker Score: 85,657
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.39
    Marker Score: 51,209
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.39
    Marker Score: 29,582
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.36
    Marker Score: 12,942
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.34
    Marker Score: 26,673
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.31
    Marker Score: 11,256
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.29
    Marker Score: 1,993
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.27
    Marker Score: 28,335
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.25
    Marker Score: 2,736
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.23
    Marker Score: 718
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.21
    Marker Score: 5,065
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.21
    Marker Score: 5,015
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.18
    Marker Score: 12,166
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.17
    Marker Score: 1,571
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.14
    Marker Score: 4,040
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.12
    Marker Score: 1,294
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.12
    Marker Score: 1,236
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.11
    Marker Score: 955
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.1
    Marker Score: 504
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.07
    Marker Score: 1,217
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.07
    Marker Score: 447
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16,305
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.04
    Marker Score: 329
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.03
    Marker Score: 600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1
    Marker Score: 1,216
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,705
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,930
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.99
    Marker Score: 1,067
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,393
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.97
    Marker Score: 1,872
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.96
    Marker Score: 1,192
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,397
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 434
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.91
    Marker Score: 618
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.9
    Marker Score: 1,091
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,705
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.9
    Marker Score: 2,147
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.89
    Marker Score: 1,452
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.89
    Marker Score: 282
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.88
    Marker Score: 435
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.88
    Marker Score: 869
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,294
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.86
    Marker Score: 251
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.86
    Marker Score: 15,188
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4,858
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.85
    Marker Score: 1,729
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.85
    Marker Score: 28,687
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.85
    Marker Score: 295
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.83
    Marker Score: 464
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.81
    Marker Score: 222
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.81
    Marker Score: 392
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.8
    Marker Score: 422
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.79
    Marker Score: 3,670
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.79
    Marker Score: 593
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 315
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.78
    Marker Score: 3,260
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.78
    Marker Score: 468
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 593
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.78
    Marker Score: 401
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.77
    Marker Score: 735
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.77
    Marker Score: 590
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.76
    Marker Score: 659
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.76
    Marker Score: 1,787
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.74
    Marker Score: 275
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.73
    Marker Score: 1,032
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3,055
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.73
    Marker Score: 408
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.72
    Marker Score: 590
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.72
    Marker Score: 1,030
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.71
    Marker Score: 653
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.71
    Marker Score: 763
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.7
    Marker Score: 201
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.7
    Marker Score: 724
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.7
    Marker Score: 706
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.69
    Marker Score: 218
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.67
    Marker Score: 273
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.67
    Marker Score: 402
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.67
    Marker Score: 4,029
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.67
    Marker Score: 1,678
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 610
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.67
    Marker Score: 257
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.67
    Marker Score: 446
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.66
    Marker Score: 935
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.66
    Marker Score: 247
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.66
    Marker Score: 464
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.65
    Marker Score: 323
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.65
    Marker Score: 1,367
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 428
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.65
    Marker Score: 833
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.64
    Marker Score: 682

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MAU2 belongs to the cohesin complex family, which plays a pivotal role in holding sister chromatids together during mitosis and meiosis. The MAU2 protein, also known as SCC4_HUMAN, is a homolog of the human SCC4 gene and is involved in the loading of cohesin onto chromatin. This process is essential for the proper segregation of chromosomes during cell division. MAU2 is specifically expressed in neurons, suggesting a potential role in neuronal development and function. **Pathways and Functions:** The MAU2 gene is involved in various cellular pathways, including: 1. **Cell Cycle Regulation:** MAU2 plays a crucial role in maintaining sister chromatid cohesion, which is essential for proper chromosome segregation during mitosis. 2. **Chromatin Organization:** MAU2 is involved in the loading of cohesin onto chromatin, which helps to maintain chromatin structure and organization. 3. **Double-Stranded DNA Binding:** MAU2 has been shown to bind to double-stranded DNA, suggesting a potential role in DNA damage response and repair. 4. **Protein Binding:** MAU2 interacts with various proteins, including the Smc4 protein, which is essential for cohesin loading onto chromatin. **Clinical Significance:** Dysregulation of MAU2 has been implicated in various neurological disorders, including: 1. **Neurodevelopmental Disorders:** MAU2 mutations have been associated with neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. 2. **Cancer:** MAU2 has been shown to be mutated in certain types of cancer, suggesting a potential role in tumorigenesis. 3. **Neurodegenerative Disorders:** MAU2 has been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, MAU2 plays a critical role in maintaining sister chromatid cohesion, chromatin organization, and neuronal development and function. Further research is needed to fully understand the mechanisms by which MAU2 regulates these processes and to explore its potential therapeutic applications in treating neurological disorders. **Implications for Immunology:** As an immunologist, I would like to highlight the potential implications of MAU2 dysregulation on immune function. MAU2 has been shown to interact with various proteins involved in immune responses, suggesting a potential role in modulating immune cell function. Further research is needed to explore the relationship between MAU2 and immune function, particularly in the context of autoimmune diseases. **Future Directions:** 1. **Investigating MAU2 Function in Neuronal Development:** Further research is needed to fully understand the mechanisms by which MAU2 regulates neuronal development and function. 2. **Exploring MAU2's Role in Cancer:** MAU2 has been implicated in cancer, and further research is needed to explore its role in tumorigenesis and cancer progression. 3. **Investigating MAU2's Implications for Neurodegenerative Disorders:** MAU2 has been implicated in neurodegenerative disorders, and further research is needed to explore its potential therapeutic applications. In conclusion, MAU2 is a critical gene involved in maintaining sister chromatid cohesion, chromatin organization, and neuronal development and function. Further research is needed to fully understand its mechanisms and to explore its potential therapeutic applications in treating neurological disorders.

Genular Protein ID: 3552904301

Symbol: SCC4_HUMAN

Name: MAU2 chromatid cohesion factor homolog

UniProtKB Accession Codes:

Q9Y6X3 Q66PT1 Q6P3S7 Q6ZTT2 Q9UFX8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SMART 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10048485

Title: 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

DOI: 10.1093/dnares/5.6.355

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16802858

Title: Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance.

PubMed ID: 16802858

DOI: 10.1371/journal.pbio.0040242

PubMed ID: 16682347

Title: Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.

PubMed ID: 16682347

DOI: 10.1016/j.cub.2006.03.049

PubMed ID: 21934712

Title: Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

PubMed ID: 21934712

DOI: 10.1038/ejhg.2011.175

PubMed ID: 22628566

Title: In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex.

PubMed ID: 22628566

DOI: 10.1073/pnas.1206840109

PubMed ID: 28167679

Title: Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

PubMed ID: 28167679

DOI: 10.1242/jcs.197236

Sequence Information:

  • Length: 613
  • Mass: 69082
  • Checksum: 47E33F5CE6504047
  • Sequence:
    • MAAQAAAAAQ AAAAQAAQAE AADSWYLALL GFAEHFRTSS PPKIRLCVHC LQAVFPFKPP 
QRIEARTHLQ LGSVLYHHTK NSEQARSHLE KAWLISQQIP QFEDVKFEAA SLLSELYCQE 
NSVDAAKPLL RKAIQISQQT PYWHCRLLFQ LAQLHTLEKD LVSACDLLGV GAEYARVVGS 
EYTRALFLLS KGMLLLMERK LQEVHPLLTL CGQIVENWQG NPIQKESLRV FFLVLQVTHY 
LDAGQVKSVK PCLKQLQQCI QTISTLHDDE ILPSNPADLF HWLPKEHMCV LVYLVTVMHS 
MQAGYLEKAQ KYTDKALMQL EKLKMLDCSP ILSSFQVILL EHIIMCRLVT GHKATALQEI 
SQVCQLCQQS PRLFSNHAAQ LHTLLGLYCV SVNCMDNAEA QFTTALRLTN HQELWAFIVT 
NLASVYIREG NRHQEVLYSL LERINPDHSF PVSSHCLRAA AFYVRGLFSF FQGRYNEAKR 
FLRETLKMSN AEDLNRLTAC SLVLLGHIFY VLGNHRESNN MVVPAMQLAS KIPDMSVQLW 
SSALLRDLNK ACGNAMDAHE AAQMHQNFSQ QLLQDHIEAC SLPEHNLITW TDGPPPVQFQ 
AQNGPNTSLA SLL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.