Details for: MSH5

Gene ID: 4439

Symbol: MSH5

Ensembl ID: ENSG00000204410

Description: mutS homolog 5

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: 31.1806
    Cell Significance Index: -4.8500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 19.2396
    Cell Significance Index: -4.8800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.1019
    Cell Significance Index: -5.0600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.1203
    Cell Significance Index: -5.6800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.2070
    Cell Significance Index: 19.8900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.9163
    Cell Significance Index: 22.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9087
    Cell Significance Index: 50.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5522
    Cell Significance Index: 15.9100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5461
    Cell Significance Index: 103.9300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5435
    Cell Significance Index: 32.6300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3753
    Cell Significance Index: 17.0100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3708
    Cell Significance Index: 36.6800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3338
    Cell Significance Index: 36.3100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.3320
    Cell Significance Index: 5.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3227
    Cell Significance Index: 20.3400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3185
    Cell Significance Index: 6.9000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.2743
    Cell Significance Index: 5.6900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2520
    Cell Significance Index: 6.3000
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.2062
    Cell Significance Index: 2.0800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2041
    Cell Significance Index: 33.2000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1784
    Cell Significance Index: 2.8300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1607
    Cell Significance Index: 1.4800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1445
    Cell Significance Index: 9.9900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1275
    Cell Significance Index: 22.9800
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.1258
    Cell Significance Index: 0.7900
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.1213
    Cell Significance Index: 0.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1200
    Cell Significance Index: 108.3200
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.1073
    Cell Significance Index: 0.8100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0971
    Cell Significance Index: 11.3200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0902
    Cell Significance Index: 32.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0875
    Cell Significance Index: 3.8700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0874
    Cell Significance Index: 3.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0867
    Cell Significance Index: 6.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0852
    Cell Significance Index: 17.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0790
    Cell Significance Index: 9.3200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0731
    Cell Significance Index: 2.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0549
    Cell Significance Index: 1.1700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0495
    Cell Significance Index: 6.0900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0489
    Cell Significance Index: 2.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0303
    Cell Significance Index: 1.4300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0216
    Cell Significance Index: 0.3000
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.0202
    Cell Significance Index: 0.2500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0172
    Cell Significance Index: 0.2100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0153
    Cell Significance Index: 8.3500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0006
    Cell Significance Index: -0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0020
    Cell Significance Index: -3.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0024
    Cell Significance Index: -4.3600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0025
    Cell Significance Index: -1.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0026
    Cell Significance Index: -0.3600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0030
    Cell Significance Index: -4.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0042
    Cell Significance Index: -3.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0043
    Cell Significance Index: -5.8700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0062
    Cell Significance Index: -4.5200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0064
    Cell Significance Index: -4.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0067
    Cell Significance Index: -3.8000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0077
    Cell Significance Index: -1.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0079
    Cell Significance Index: -5.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0114
    Cell Significance Index: -5.1600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0126
    Cell Significance Index: -0.7700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0149
    Cell Significance Index: -1.7100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0176
    Cell Significance Index: -2.2600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0184
    Cell Significance Index: -0.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0217
    Cell Significance Index: -0.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0243
    Cell Significance Index: -5.1200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0256
    Cell Significance Index: -0.8200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0267
    Cell Significance Index: -4.5700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0308
    Cell Significance Index: -0.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0325
    Cell Significance Index: -4.7200
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0349
    Cell Significance Index: -0.4900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0358
    Cell Significance Index: -0.5400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0364
    Cell Significance Index: -3.7200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0401
    Cell Significance Index: -5.1800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0485
    Cell Significance Index: -2.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0487
    Cell Significance Index: -5.0700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0560
    Cell Significance Index: -0.5800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0602
    Cell Significance Index: -4.2600
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: -0.0618
    Cell Significance Index: -0.5400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0628
    Cell Significance Index: -1.4500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0637
    Cell Significance Index: -1.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0674
    Cell Significance Index: -5.3400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0718
    Cell Significance Index: -5.3500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0808
    Cell Significance Index: -2.8300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0889
    Cell Significance Index: -2.9100
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.0902
    Cell Significance Index: -0.8200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0905
    Cell Significance Index: -4.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0913
    Cell Significance Index: -2.4000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0986
    Cell Significance Index: -3.1400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1047
    Cell Significance Index: -2.1300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1065
    Cell Significance Index: -1.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1173
    Cell Significance Index: -1.6000
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1274
    Cell Significance Index: -1.8500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1294
    Cell Significance Index: -1.6100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1301
    Cell Significance Index: -2.8100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1302
    Cell Significance Index: -3.3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1306
    Cell Significance Index: -3.5600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1315
    Cell Significance Index: -3.2800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1363
    Cell Significance Index: -2.5200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1410
    Cell Significance Index: -2.0200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1422
    Cell Significance Index: -4.9400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1427
    Cell Significance Index: -1.7800

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** MSH5 is a 143-kDa protein that belongs to the MutS family of proteins, which are essential for the recognition and repair of DNA mismatches. The MSH5 protein is specifically involved in the recognition of mismatched bases and the subsequent activation of the MMR pathway. It is a heterodimeric protein, composed of two subunits, MSH5A and MSH5B, which interact with other MMR proteins, such as MLH1 and PMS2, to form the MMR complex. **Pathways and Functions** The MSH5 gene is involved in several key pathways, including: 1. **Mismatch Repair (MMR) pathway**: MSH5 recognizes and binds to mismatched DNA bases, leading to the activation of the MMR machinery, which corrects errors in DNA replication and recombination. 2. **Meiotic Recombination**: MSH5 is involved in the recognition and repair of DNA breaks during meiosis, ensuring the proper segregation of chromosomes. 3. **Chiasma Assembly**: MSH5 plays a role in the assembly of chiasmata, the structures that mediate genetic recombination during meiosis. 4. **Double-stranded DNA Binding**: MSH5 binds to double-stranded DNA, facilitating the recognition and repair of DNA mismatches. **Clinical Significance** Dysfunction or mutations in the MSH5 gene have been associated with several human diseases, including: 1. **Hereditary Nonpolyposis Colorectal Cancer (HNPCC)**: Mutations in the MSH5 gene have been identified in patients with HNPCC, a form of colorectal cancer characterized by the absence of polyposis. 2. **Germline Mutations**: Germline mutations in the MSH5 gene have been linked to recurrent miscarriages, infertility, and other reproductive disorders. 3. **Cancer Susceptibility**: MSH5 mutations have been associated with an increased risk of various cancers, including colorectal, breast, and ovarian cancer. In conclusion, the MSH5 gene plays a critical role in maintaining genomic stability through its involvement in the MMR pathway, meiotic recombination, and chiasma assembly. Dysfunction or mutations in the MSH5 gene can lead to an increased risk of cancer and other diseases, highlighting the importance of this gene in human health.

Genular Protein ID: 1516508261

Symbol: MSH5_HUMAN

Name: MutS protein homolog 5

UniProtKB Accession Codes:

O43196 B0V033 B0V034 O60586 Q5BLU9 Q5SSR1 Q8IW44 Q9BQC7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CORUM 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 30 Ensembl 17 ExpressionAtlas 1 GO 7 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 1 RefSeq 4 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9740671

Title: Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene.

PubMed ID: 9740671

DOI: 10.1006/geno.1998.5374

PubMed ID: 10029069

Title: hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis.

PubMed ID: 10029069

PubMed ID: 9787078

Title: Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene.

PubMed ID: 9787078

DOI: 10.1006/geno.1998.5447

PubMed ID: 14656967

Title: Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.

PubMed ID: 14656967

DOI: 10.1101/gr.1736803

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 17823411

Title: Activation of Holliday junction recognizing protein involved in the chromosomal stability and immortality of cancer cells.

PubMed ID: 17823411

DOI: 10.1158/0008-5472.can-07-1307

PubMed ID: 28175301

Title: Mutations in MSH5 in Primary Ovarian Insufficiency.

PubMed ID: 28175301

DOI: 10.1093/hmg/ddx044

PubMed ID: 34755185

Title: Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

PubMed ID: 34755185

DOI: 10.1093/humrep/deab230

Sequence Information:

  • Length: 834
  • Mass: 92875
  • Checksum: 89E747F5361870E2
  • Sequence:
    • MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI HLCVLWNSGY 
LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV VTSAKQDENM TRFLGKLASQ 
EHREPKRPEI IFLPSVDFGL EISKQRLLSG NYSFIPDAMT ATEKILFLSS IIPFDCLLTV 
RALGGLLKFL GRRRIGVELE DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS 
VYKVASGLKE GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL 
DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC RSLPQSIQLF 
RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID PEIDEKKRRL MGLPSFLTEV 
ARKELENLDS RIPSCSVIYI PLIGFLLSIP RLPSMVEASD FEINGLDFMF LSEEKLHYRS 
ARTKELDALL GDLHCEIRDQ ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR 
DYGYSRPRYS PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI 
YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI DLNQVAKAVN 
NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC PHIFVATNFL SLVQLQLLPQ 
GPLVQYLTME TCEDGNDLVF FYQVCEGVAK ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS 
GKPIKPVKDL LKKNQMENCQ TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL

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.