Details for: MSH4

Gene ID: 4438

Symbol: MSH4

Ensembl ID: ENSG00000057468

Description: mutS homolog 4

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.92
    Marker Score: 14589
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.98
    Marker Score: 11427
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.31
    Marker Score: 27955
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.9
    Marker Score: 3936.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1173
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168819
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 873
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 858
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.19
    Marker Score: 11299
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 490
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4817
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 506
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.1
    Marker Score: 1691
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.09
    Marker Score: 9399
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.09
    Marker Score: 14523
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.07
    Marker Score: 66065
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 799
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48046
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.99
    Marker Score: 4102
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 465
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.96
    Marker Score: 210
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 377
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5340
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.93
    Marker Score: 34282
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.91
    Marker Score: 8591
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.84
    Marker Score: 2112
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.8
    Marker Score: 365.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.8
    Marker Score: 11942
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.8
    Marker Score: 15852
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.77
    Marker Score: 346
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 465
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.72
    Marker Score: 2919
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.66
    Marker Score: 5035
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.65
    Marker Score: 24848
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.65
    Marker Score: 10238
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.65
    Marker Score: 1312
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 422
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.6
    Marker Score: 3965
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6
    Marker Score: 2304
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 469
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 234
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.56
    Marker Score: 5738
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.53
    Marker Score: 1259
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.46
    Marker Score: 1773
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.46
    Marker Score: 1902
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.46
    Marker Score: 274
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.44
    Marker Score: 2617
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.42
    Marker Score: 726
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.42
    Marker Score: 372
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 399.5
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.41
    Marker Score: 1172
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 375
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.37
    Marker Score: 424
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.35
    Marker Score: 122
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.34
    Marker Score: 92
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.32
    Marker Score: 620
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.31
    Marker Score: 108
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.31
    Marker Score: 492
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.3
    Marker Score: 90
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.3
    Marker Score: 747
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.3
    Marker Score: 141
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.28
    Marker Score: 305
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.28
    Marker Score: 192
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.28
    Marker Score: 344
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.28
    Marker Score: 89
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.27
    Marker Score: 395
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.27
    Marker Score: 55
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.26
    Marker Score: 502
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.26
    Marker Score: 68
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.26
    Marker Score: 148
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.25
    Marker Score: 603
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.25
    Marker Score: 149
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.25
    Marker Score: 1151
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.25
    Marker Score: 73
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.24
    Marker Score: 77
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.24
    Marker Score: 206
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.23
    Marker Score: 4974
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.23
    Marker Score: 84
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.23
    Marker Score: 288
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.23
    Marker Score: 229
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.23
    Marker Score: 60
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.23
    Marker Score: 71
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.22
    Marker Score: 785
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.21
    Marker Score: 386

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Other Information

**Key characteristics**: * The MSH4 gene is located on chromosome 17q21. * It is a member of the MutS family of DNA repair proteins. * It is expressed in high levels in cells that are exposed to DNA damage. * It is a key regulator of cell cycle progression and DNA repair. **Pathways and functions**: * MSH4 is involved in the repair of double-stranded DNA breaks. * It is also involved in the maintenance of genomic integrity and the prevention of cancer. * It is a key regulator of cell cycle progression and DNA repair. * It is involved in the development of female gametes. * It is also involved in the maintenance of the integrity of the female reproductive tract. **Clinical significance**: * Mutations in the MSH4 gene have been linked to a number of human diseases, including breast cancer, ovarian cancer, and colon cancer. * These mutations can lead to the activation of oncogenes or the inactivation of tumor suppressor genes, resulting in uncontrolled cell growth and cancer development. * Development of new therapies for cancer based on understanding the role of MSH4 in DNA repair and genomic stability is an active area of research.

Genular Protein ID: 151945567

Symbol: MSH4_HUMAN

Name: MutS protein homolog 4

UniProtKB Accession Codes:

O15457 Q5T4U6 Q8NEB3 Q9UNP8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 1 GO 15 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9299235

Title: Cloning and expression analysis of a meiosis-specific MutS homolog: the human MSH4 gene.

PubMed ID: 9299235

DOI: 10.1006/geno.1997.4857

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 28541421

Title: A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

PubMed ID: 28541421

DOI: 10.1093/hmg/ddx199

PubMed ID: 33437391

Title: A novel homozygous mutation in the meiotic gene MSH4 leading to male infertility due to non-obstructive azoospermia.

PubMed ID: 33437391

PubMed ID: 32741963

Title: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

PubMed ID: 32741963

DOI: 10.1038/s41436-020-0907-1

PubMed ID: 33448284

Title: Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.

PubMed ID: 33448284

DOI: 10.1093/humrep/deaa362

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

PubMed ID: 35090489

Title: Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.

PubMed ID: 35090489

DOI: 10.1186/s12958-022-00900-x

Sequence Information:

  • Length: 936
  • Mass: 104756
  • Checksum: 5A82684379346441
  • Sequence:
    • MLRPEISSTS PSAPAVSPSS GETRSPQGPR YNFGLQETPQ SRPSVQVVSA STCPGTSGAA 
GDRSSSSSSL PCPAPNSRPA QGSYFGNKRA YAENTVASNF TFGASSSSAR DTNYPQTLKT 
PLSTGNPQRS GYKSWTPQVG YSASSSSAIS AHSPSVIVAV VEGRGLARGE IGMASIDLKN 
PQIILSQFAD NTTYAKVITK LKILSPLEII MSNTACAVGN STKLFTLITE NFKNVNFTTI 
QRKYFNETKG LEYIEQLCIA EFSTVLMEVQ SKYYCLAAVA ALLKYVEFIQ NSVYAPKSLK 
ICFQGSEQTA MIDSSSAQNL ELLINNQDYR NNHTLFGVLN YTKTPGGSRR LRSNILEPLV 
DIETINMRLD CVQELLQDEE LFFGLQSVIS RFLDTEQLLS VLVQIPKQDT VNAAESKITN 
LIYLKHTLEL VDPLKIAMKN CNTPLLRAYY GSLEDKRFGI ILEKIKTVIN DDARYMKGCL 
NMRTQKCYAV RSNINEFLDI ARRTYTEIVD DIAGMISQLG EKYSLPLRTS FSSARGFFIQ 
MTTDCIALPS DQLPSEFIKI SKVKNSYSFT SADLIKMNER CQESLREIYH MTYMIVCKLL 
SEIYEHIHCL YKLSDTVSML DMLLSFAHAC TLSDYVRPEF TDTLAIKQGW HPILEKISAE 
KPIANNTYVT EGSNFLIITG PNMSGKSTYL KQIALCQIMA QIGSYVPAEY SSFRIAKQIF 
TRISTDDDIE TNSSTFMKEM KEIAYILHNA NDKSLILIDE LGRGTNTEEG IGICYAVCEY 
LLSLKAFTLF ATHFLELCHI DALYPNVENM HFEVQHVKNT SRNKEAILYT YKLSKGLTEE 
KNYGLKAAEV SSLPPSIVLD AKEITTQITR QILQNQRSTP EMERQRAVYH LATRLVQTAR 
NSQLDPDSLR IYLSNLKKKY KEDFPRTEQV PEKTEE

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. For the full schema, download it here.