• Gene id: 4438

Gene Summary

• Gene Symbol: MSH4   Gene   UCSC   Ensembl
• Gene name: mutS homolog 4
• Alternate names: mutS protein homolog 4, hMSH4,
• Gene location: 1p31.1 (75796870: 75913237)     Exons: 20     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at
• OMIM: 602105

Protein Summary

• Protein general information: O15457  
  • Name: MutS protein homolog 4 (hMSH4)
  • Length: 936  
  • Mass: 104,756
• Sequence:

  MLRPEISSTSPSAPAVSPSSGETRSPQGPRYNFGLQETPQSRPSVQVVSASTCPGTSGAAGDRSSSSSSLPCPAP
  NSRPAQGSYFGNKRAYAENTVASNFTFGASSSSARDTNYPQTLKTPLSTGNPQRSGYKSWTPQVGYSASSSSAIS
  AHSPSVIVAVVEGRGLARGEIGMASIDLKNPQIILSQFADNTTYAKVITKLKILSPLEIIMSNTACAVGNSTKLF
  TLITENFKNVNFTTIQRKYFNETKGLEYIEQLCIAEFSTVLMEVQSKYYCLAAVAALLKYVEFIQNSVYAPKSLK
  ICFQGSEQTAMIDSSSAQNLELLINNQDYRNNHTLFGVLNYTKTPGGSRRLRSNILEPLVDIETINMRLDCVQEL
  LQDEELFFGLQSVISRFLDTEQLLSVLVQIPKQDTVNAAESKITNLIYLKHTLELVDPLKIAMKNCNTPLLRAYY
  GSLEDKRFGIILEKIKTVINDDARYMKGCLNMRTQKCYAVRSNINEFLDIARRTYTEIVDDIAGMISQLGEKYSL
  PLRTSFSSARGFFIQMTTDCIALPSDQLPSEFIKISKVKNSYSFTSADLIKMNERCQESLREIYHMTYMIVCKLL
  SEIYEHIHCLYKLSDTVSMLDMLLSFAHACTLSDYVRPEFTDTLAIKQGWHPILEKISAEKPIANNTYVTEGSNF
  LIITGPNMSGKSTYLKQIALCQIMAQIGSYVPAEYSSFRIAKQIFTRISTDDDIETNSSTFMKEMKEIAYILHNA
  NDKSLILIDELGRGTNTEEGIGICYAVCEYLLSLKAFTLFATHFLELCHIDALYPNVENMHFEVQHVKNTSRNKE
  AILYTYKLSKGLTEEKNYGLKAAEVSSLPPSIVLDAKEITTQITRQILQNQRSTPEMERQRAVYHLATRLVQTAR
  NSQLDPDSLRIYLSNLKKKYKEDFPRTEQVPEKTEE

• Structural information:
  • Interpro: IPR017261  IPR000432  IPR007861  IPR007696  IPR036187   IPR007860  IPR036678  IPR027417  
  • Prosite: PS00486
  • STRING: ENSP00000263187
• Other Databases: GeneCards:  MSH4  Malacards:  MSH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006298	mismatch repair	IBA	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007292	female gamete generation	IEA	biological process
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0000228	nuclear chromosome	IBA	cellular component
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0032300	mismatch repair complex	IBA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000793	condensed chromosome	IEA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006298	mismatch repair	IEA	biological process
GO:0006298	mismatch repair	IBA	biological process
GO:0007126	meiotic nuclear division	IEA	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007292	female gamete generation	IEA	biological process
GO:0030983	mismatched DNA binding	IEA	molecular function
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0000228	nuclear chromosome	IBA	cellular component
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0032300	mismatch repair complex	IBA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006298	mismatch repair	IBA	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0000228	nuclear chromosome	IBA	cellular component
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0032300	mismatch repair complex	IBA	cellular component

Diseases

Associated diseases	References
Cancer (epithelial ovarian)	GAD: 19064572
Cancer	GAD: 19064572
Premature ovarian failure (POF)	GAD: 18166824
Sperm DNA damage	MIK: 22594646
Sertoli cell only syndrome (SCOS)	MIK: 18706547
Male factor infertility	MIK: 22594646
Oligozoospermia	MIK: 22594646
Azoospermia	MIK: 22594646
Azoospermia	MIK: 20378615
Impaired human spermatogenesis	MIK: 20075417
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 20075417
Sertoli cell-only syndrome (SCOS)	MIK: 18706547
Male infertility	MIK: 18706547
Sperm DNA damage	MIK: 22594646
Azoospermia	MIK: 22594646
Oligozoospermia	MIK: 22594646
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22594646	Sperm DNA damage, Male infertility, azoospermia, oligozoospermia	MLH1 (rs4647269), PMS2 (rs1059060, Ser775Asn), MSH5 (rs2075789, Pro29Ser)	Chinese	1772 (1,292 idiopathic infertility patients, 480 fertile controls)	Male infertility	MLH1 MLH3 PMS2 MSH4 and MSH5
20075417	Impaired human spermatogenesis			28 (13 patients with spermatogenic failure, 5 patients with primary germ cell tumors, 10 controls with conserved spermatogenesis)	Male infertility	MLH1 MLH3 PMS2 MSH4 and MSH5 ATR HSPA2 and SYCP3
18706547	Sertoli cell-only syndrome (SCOS), male infertility			24 (20 healthy males of proven fertility underwent a vasectomy, 4 infertile patiets)	Male infertility	MSH4
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray