• Gene id: 4439

Gene Summary

• Gene Symbol: MSH5   Gene   UCSC   Ensembl
• Aliases: G7, MUTSH5, NG23, POF13
• Gene name: mutS homolog 5
• Alternate names: mutS protein homolog 5,
• Gene location: 6p21.33 (31739947: 31762677)     Exons: 25     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events
• OMIM: 603382

SNPs

rs11754464

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs9461718

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31760045A>C
NC_000006.12   g.31760045A>G
NC_000006.11   g.31727822A>C
NC_000006.11   g.31727822A>G
NG_011611.1   g.25049A>C
NG_011611.1   g.25049A>G
NT_113891.3   g.3237302A>C
NT_113891.3   g.3237302A>G
NT_113891.2   g.3237408A>C
NT_113891.2   g.3237408

rs3117572

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31749915A>C
NC_000006.12   g.31749915A>G
NC_000006.11   g.31717692A>C
NC_000006.11   g.31717692A>G
NG_011611.1   g.14919A>C
NG_011611.1   g.14919A>G
NT_113891.3   g.3227176G>A
NT_113891.3   g.3227176G>C
NT_113891.2   g.3227282G>A
NT_113891.2   g.3227282

rs3115672

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31760120C>T
NC_000006.11   g.31727897C>T
NG_011611.1   g.25124C>T
NM_025259.5   c.1767C>T
NM_002441.4   c.1716C>T
NM_172165.3   c.1716C>T
NM_172166.3   c.1716C>T
NT_113891.3   g.3237377T>C
NT_113891.2   g.3237483T>C
NT_167245.2   g.3007894C>T
NT_167245.  

rs2299850

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31750258C>T
NC_000006.11   g.31718035C>T
NG_011611.1   g.15262C>T
NT_113891.3   g.3227519C>T
NT_113891.2   g.3227625C>T
NT_167245.2   g.2998029C>T
NT_167245.1   g.3003614C>T
NT_167247.2   g.3092140C>T
NT_167247.1   g.3097725C>T
NT_167248.2   g.3006081C>

rs2075789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31740551C>T
NC_000006.11   g.31708328C>T
NG_011611.1   g.5555C>T
NM_025259.5   c.85C>T
NM_002441.4   c.85C>T
NM_172166.4   c.85C>T
NM_172166.3   c.85C>T
NM_172165.3   c.85C>T
NT_113891.3   g.3217831C>T
NT_113891.2   g.3217937C>T
NT_167245.2   g.2988317C>T

Protein Summary

• Protein general information: O43196  
  • Name: MutS protein homolog 5 (hMSH5)
  • Length: 834  
  • Mass: 92,875
• Sequence:

  MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHF
  MPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSG
  NYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQD
  TYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNL
  DMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIA
  SLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIP
  RLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDL
  ASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSI
  YLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGK
  GTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAK
  ASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQE
  VLPAATSIL

• Structural information:
  • Interpro: IPR011184  IPR000432  IPR007861  IPR007696  IPR036187   IPR027417  
  • Prosite: PS00486
  • STRING: ENSP00000364855
• Other Databases: GeneCards:  MSH5  Malacards:  MSH5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000795	synaptonemal complex	IBA	cellular component
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:0006298	mismatch repair	IBA	biological process
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0051026	chiasma assembly	IBA	biological process
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:0000795	synaptonemal complex	IBA	cellular component
GO:0003677	DNA binding	IEA	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:0006298	mismatch repair	IEA	biological process
GO:0006298	mismatch repair	IBA	biological process
GO:0030983	mismatched DNA binding	IEA	molecular function
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0051026	chiasma assembly	IBA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
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:0000795	synaptonemal complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006298	mismatch repair	IBA	biological process
GO:0030983	mismatched DNA binding	IBA	molecular function
GO:0051026	chiasma assembly	IBA	biological process
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	GAD: 18978787
Cancer (lung)	GAD: 18978787
Rheumatoid arthritis	GAD: 19950296
Systemic lupus erythematosus (SLE)	GAD: 19851445
Diabetes	GAD: 19143821
Premature ovarian failure (POF)	INFBASE: 18166824
Impaired human spermatogenesis	MIK: 20075417
Sperm DNA damage	MIK: 22594646
Sertoli cell only syndrome (SCOS)	MIK: 18706547
Azoospermia	MIK: 19808033
Oligozoospermia	MIK: 22594646
Azoospermia	MIK: 22594646
Abortion	GAD: 20587610
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Spermatogenic defects	MIK: 20075417
Male infertility	MIK: 19808033
Azoospermia	MIK: 19808033
Oligozoospermia	MIK: 19808033
Non-obstructive azoospermia	MIK: 26199320
Sertoli cell-only syndrome (SCOS)	MIK: 18706547
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
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
19808033	Male infertility with azoospermia, severe oligozoospermia	MSH5 (C85T), MLH3 (C2531T)	Chinese	322 (162 infertile individuals with idiopathic azoospermia or severe oligozoospermia, 160 fertile men as controls)	Male infertility	MSH5 MLH3
18706547	Sertoli cell-only syndrome (SCOS), male infertility			24 (20 healthy males of proven fertility underwent a vasectomy, 4 infertile patiets)	Male infertility	MSH5
18459961	Role in spermatogenesis				Male infertility
26199320	Non-obstructive azoospermia	rs11754464	Han Chi nese	9726 (3130 cases, 6596 controls)	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 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