Details for: MSH3

Gene ID: 4437

Symbol: MSH3

Ensembl ID: ENSG00000113318

Description: mutS homolog 3

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 280.8186
    Cell Significance Index: -43.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 170.0025
    Cell Significance Index: -43.1200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 92.0353
    Cell Significance Index: -37.3900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 85.1599
    Cell Significance Index: -43.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.3195
    Cell Significance Index: -37.5400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 36.6518
    Cell Significance Index: -45.1900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.2785
    Cell Significance Index: -38.2500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.5706
    Cell Significance Index: -38.6100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.5191
    Cell Significance Index: -45.4600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.4764
    Cell Significance Index: -20.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.3162
    Cell Significance Index: 102.4500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.1464
    Cell Significance Index: 81.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1420
    Cell Significance Index: 429.6900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8099
    Cell Significance Index: 359.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.6770
    Cell Significance Index: 22.8800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4473
    Cell Significance Index: 519.1300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.3747
    Cell Significance Index: 77.1400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2796
    Cell Significance Index: 58.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.2674
    Cell Significance Index: 35.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.2333
    Cell Significance Index: 35.5400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.1909
    Cell Significance Index: 29.7700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0814
    Cell Significance Index: 117.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.0706
    Cell Significance Index: 740.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.8156
    Cell Significance Index: 54.8400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.8060
    Cell Significance Index: 15.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6971
    Cell Significance Index: 42.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6950
    Cell Significance Index: 53.3300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6543
    Cell Significance Index: 117.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5900
    Cell Significance Index: 72.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5724
    Cell Significance Index: 12.4000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4901
    Cell Significance Index: 25.4600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4093
    Cell Significance Index: 369.6000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3956
    Cell Significance Index: 216.0400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3616
    Cell Significance Index: 10.3200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.3286
    Cell Significance Index: 7.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2817
    Cell Significance Index: 27.8700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2540
    Cell Significance Index: 6.5300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2214
    Cell Significance Index: 7.7800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1770
    Cell Significance Index: 24.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1709
    Cell Significance Index: 321.8000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1452
    Cell Significance Index: 92.2400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1310
    Cell Significance Index: 6.1100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1292
    Cell Significance Index: 1.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1240
    Cell Significance Index: 54.8300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1215
    Cell Significance Index: 187.0400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1179
    Cell Significance Index: 2.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1059
    Cell Significance Index: 48.0500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0989
    Cell Significance Index: 18.8200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0979
    Cell Significance Index: 180.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0568
    Cell Significance Index: 9.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0354
    Cell Significance Index: 4.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0250
    Cell Significance Index: 34.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0135
    Cell Significance Index: 2.3100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0107
    Cell Significance Index: 0.1600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0052
    Cell Significance Index: 0.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0030
    Cell Significance Index: -0.0800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0098
    Cell Significance Index: -0.1700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0111
    Cell Significance Index: -0.7000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0265
    Cell Significance Index: -3.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0285
    Cell Significance Index: -20.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0316
    Cell Significance Index: -23.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0353
    Cell Significance Index: -22.0600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0386
    Cell Significance Index: -1.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0532
    Cell Significance Index: -40.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0636
    Cell Significance Index: -35.8900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0700
    Cell Significance Index: -3.2900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1132
    Cell Significance Index: -1.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1225
    Cell Significance Index: -25.8000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1336
    Cell Significance Index: -8.6200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1379
    Cell Significance Index: -39.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1482
    Cell Significance Index: -21.5500
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1485
    Cell Significance Index: -1.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1578
    Cell Significance Index: -16.1200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1786
    Cell Significance Index: -3.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1912
    Cell Significance Index: -9.9600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2020
    Cell Significance Index: -2.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2091
    Cell Significance Index: -14.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2259
    Cell Significance Index: -29.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2332
    Cell Significance Index: -26.7200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2400
    Cell Significance Index: -27.9700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3094
    Cell Significance Index: -35.3200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3369
    Cell Significance Index: -35.0800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3461
    Cell Significance Index: -4.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4351
    Cell Significance Index: -32.4300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4381
    Cell Significance Index: -9.3700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4561
    Cell Significance Index: -9.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4565
    Cell Significance Index: -23.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4712
    Cell Significance Index: -37.3200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4746
    Cell Significance Index: -15.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4852
    Cell Significance Index: -29.7500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5272
    Cell Significance Index: -12.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5384
    Cell Significance Index: -14.6600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.5583
    Cell Significance Index: -8.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6270
    Cell Significance Index: -19.9700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.6285
    Cell Significance Index: -9.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6502
    Cell Significance Index: -19.1500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6591
    Cell Significance Index: -21.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6635
    Cell Significance Index: -13.1200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.7024
    Cell Significance Index: -14.5700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.7402
    Cell Significance Index: -25.7200

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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** MSH3 is a small, single-stranded DNA-binding protein that interacts with MSH2 to form the Mutsbeta complex. This complex recognizes and binds to mismatched bases, specifically guanine/thymine mispairs, and recruits other proteins to initiate repair. MSH3 is also involved in the regulation of helicase activity and the negative regulation of DNA recombination. Its expression is restricted to cells of the nervous system, including neurons and astrocytes, suggesting a specialized role in neural function and development. **Pathways and Functions** The MSH3-MSH2 complex plays a central role in the mismatch repair pathway, which corrects errors in DNA replication and recombination. The complex recognizes mismatched bases, specifically guanine/thymine mispairs, and recruits other proteins to initiate repair. This process involves the following steps: 1. Binding of MSH3-MSH2 complex to mismatched bases 2. Recognition of mismatched bases by the Mutsbeta complex 3. Recruitment of other proteins, including PMS2 and MLH1, to initiate repair 4. Excision of mismatched bases and replacement with correct bases MSH3 is also involved in the regulation of helicase activity, which is essential for DNA replication and recombination. Additionally, MSH3 interacts with other proteins, such as BRCA1 and BRCA2, to regulate DNA recombination and maintain genome stability. **Clinical Significance** Mutations in MSH3 have been associated with various neurological disorders, including: 1. Ataxia with Ocular Motor Apraxia Type 1 (AOMA1): a rare genetic disorder characterized by progressive ataxia, oculomotor apraxia, and intellectual disability. 2. Ataxia with Ocular Motor Apraxia Type 2 (AOMA2): a rare genetic disorder characterized by progressive ataxia, oculomotor apraxia, and intellectual disability. 3. Spinocerebellar ataxia type 17 (SCA17): a rare genetic disorder characterized by progressive ataxia, dysarthria, and intellectual disability. These disorders highlight the importance of MSH3 in maintaining genome stability and neural function. Further research is needed to fully understand the mechanisms underlying MSH3-related disorders and to develop effective therapeutic strategies for treatment. In conclusion, MSH3 is a critical component of the mismatch repair pathway, essential for maintaining genome stability and neural function. Its role in recognizing and repairing mismatched bases, regulating helicase activity, and interacting with other proteins underscores its significance in cellular processes. Mutations in MSH3 have been associated with various neurological disorders, emphasizing the need for further research into the mechanisms underlying these disorders and the development of effective therapeutic strategies.

Genular Protein ID: 1306523436

Symbol: MSH3_HUMAN

Name: DNA mismatch repair protein Msh3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2722860

Title: Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene.

PubMed ID: 2722860

DOI: 10.1016/s0021-9258(18)81766-5

PubMed ID: 8942985

Title: hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.

PubMed ID: 8942985

DOI: 10.1073/pnas.93.24.13629

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 8782829

Title: Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair.

PubMed ID: 8782829

DOI: 10.1038/ng0996-102

PubMed ID: 11427529

Title: The interaction of DNA mismatch repair proteins with human exonuclease I.

PubMed ID: 11427529

DOI: 10.1074/jbc.m102670200

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26300262

Title: MCM9 Is Required for Mammalian DNA Mismatch Repair.

PubMed ID: 26300262

DOI: 10.1016/j.molcel.2015.07.010

PubMed ID: 8851770

Title: Nine-bp repeat polymorphism in exon 1 of the hMSH3 gene.

PubMed ID: 8851770

DOI: 10.1007/bf01900603

PubMed ID: 10944853

Title: Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability.

PubMed ID: 10944853

DOI: 10.1007/s100380070031

PubMed ID: 27476653

Title: Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

PubMed ID: 27476653

DOI: 10.1016/j.ajhg.2016.06.015

Sequence Information:

  • Length: 1137
  • Mass: 127412
  • Checksum: FBAE6B84D3F86032
  • Sequence:
  • MSRRKPASGG LAASSSAPAR QAVLSRFFQS TGSLKSTSSS TGAADQVDPG AAAAAAAAAA 
    AAPPAPPAPA FPPQLPPHIA TEIDRRKKRP LENDGPVKKK VKKVQQKEGG SDLGMSGNSE 
    PKKCLRTRNV SKSLEKLKEF CCDSALPQSR VQTESLQERF AVLPKCTDFD DISLLHAKNA 
    VSSEDSKRQI NQKDTTLFDL SQFGSSNTSH ENLQKTASKS ANKRSKSIYT PLELQYIEMK 
    QQHKDAVLCV ECGYKYRFFG EDAEIAAREL NIYCHLDHNF MTASIPTHRL FVHVRRLVAK 
    GYKVGVVKQT ETAALKAIGD NRSSLFSRKL TALYTKSTLI GEDVNPLIKL DDAVNVDEIM 
    TDTSTSYLLC ISENKENVRD KKKGNIFIGI VGVQPATGEV VFDSFQDSAS RSELETRMSS 
    LQPVELLLPS ALSEQTEALI HRATSVSVQD DRIRVERMDN IYFEYSHAFQ AVTEFYAKDT 
    VDIKGSQIIS GIVNLEKPVI CSLAAIIKYL KEFNLEKMLS KPENFKQLSS KMEFMTINGT 
    TLRNLEILQN QTDMKTKGSL LWVLDHTKTS FGRRKLKKWV TQPLLKLREI NARLDAVSEV 
    LHSESSVFGQ IENHLRKLPD IERGLCSIYH KKCSTQEFFL IVKTLYHLKS EFQAIIPAVN 
    SHIQSDLLRT VILEIPELLS PVEHYLKILN EQAAKVGDKT ELFKDLSDFP LIKKRKDEIQ 
    GVIDEIRMHL QEIRKILKNP SAQYVTVSGQ EFMIEIKNSA VSCIPTDWVK VGSTKAVSRF 
    HSPFIVENYR HLNQLREQLV LDCSAEWLDF LEKFSEHYHS LCKAVHHLAT VDCIFSLAKV 
    AKQGDYCRPT VQEERKIVIK NGRHPVIDVL LGEQDQYVPN NTDLSEDSER VMIITGPNMG 
    GKSSYIKQVA LITIMAQIGS YVPAEEATIG IVDGIFTRMG AADNIYKGQS TFMEELTDTA 
    EIIRKATSQS LVILDELGRG TSTHDGIAIA YATLEYFIRD VKSLTLFVTH YPPVCELEKN 
    YSHQVGNYHM GFLVSEDESK LDPGAAEQVP DFVTFLYQIT RGIAARSYGL NVAKLADVPG 
    EILKKAAHKS KELEGLINTK RKRLKYFAKL WTMHNAQDLQ KWTEEFNMEE TQTSLLH

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.