MSH5 (mutS homolog 5)

Gene

• Entrez ID: 4439
• Gene name: MutS homolog 5
• Gene symbol: MSH5
• Synonyms (NCBI Gene): G7, MUTSH5, NG23, POF13, SPGF74
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT656157	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT656156	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT656155	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT656154	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT656153	hsa-miR-3652	HITS-CLIP	23824327
MIRT656152	hsa-miR-4430	HITS-CLIP	23824327
MIRT656151	hsa-miR-4505	HITS-CLIP	23824327
MIRT656150	hsa-miR-5787	HITS-CLIP	23824327
MIRT656148	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT656149	hsa-miR-6071	HITS-CLIP	23824327
MIRT656147	hsa-miR-647	HITS-CLIP	23824327
MIRT656146	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT656145	hsa-miR-1262	HITS-CLIP	23824327
MIRT656144	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT656143	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT656142	hsa-miR-544a	HITS-CLIP	23824327
MIRT656141	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT656157	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT656156	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT656155	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT656154	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT656153	hsa-miR-3652	HITS-CLIP	23824327
MIRT656152	hsa-miR-4430	HITS-CLIP	23824327
MIRT656151	hsa-miR-4505	HITS-CLIP	23824327
MIRT656150	hsa-miR-5787	HITS-CLIP	23824327
MIRT656148	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT656149	hsa-miR-6071	HITS-CLIP	23824327
MIRT656147	hsa-miR-647	HITS-CLIP	23824327
MIRT656146	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT656145	hsa-miR-1262	HITS-CLIP	23824327
MIRT656144	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT656143	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT656142	hsa-miR-544a	HITS-CLIP	23824327
MIRT656141	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT1161206	hsa-miR-1197	CLIP-seq
MIRT1161207	hsa-miR-1266	CLIP-seq
MIRT1161208	hsa-miR-3150a-3p	CLIP-seq
MIRT1161209	hsa-miR-3175	CLIP-seq
MIRT1161210	hsa-miR-3664-3p	CLIP-seq
MIRT1161211	hsa-miR-4294	CLIP-seq
MIRT1161212	hsa-miR-4433	CLIP-seq
MIRT1161213	hsa-miR-4459	CLIP-seq
MIRT1161214	hsa-miR-4518	CLIP-seq
MIRT1161215	hsa-miR-4667-5p	CLIP-seq
MIRT1161216	hsa-miR-4695-5p	CLIP-seq
MIRT1161217	hsa-miR-4700-5p	CLIP-seq
MIRT1161218	hsa-miR-4731-5p	CLIP-seq
MIRT1161219	hsa-miR-4768-3p	CLIP-seq
MIRT1161220	hsa-miR-485-5p	CLIP-seq
MIRT1161221	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	16397227, 19442657, 22401567, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007127	Process	Meiosis I	IEA
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0051026	Process	Chiasma assembly	IBA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 603382
• HGNC: 7328
• e!Ensembl: ENSG00000204410

Protein

• UniProt ID: O43196
• Protein name: MutS protein homolog 5 (hMSH5)
• Protein function: Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05192	MutS_III	225 → 536	MutS domain III	Domain
  PF05190	MutS_IV	398 → 496	MutS family domain IV	Domain
  PF00488	MutS_V	588 → 779	MutS domain V	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with high levels in testis and ovary, including granulosa cells (PubMed:28175301, PubMed:9740671). Also expressed in fetal ovary and adrenal gland (PubMed:28175301). {ECO:0000269|PubMed:28175301, ECO:0000269|PubMed:97
• Sequence:

  MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGY
  LGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQ
  EHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTV
  RALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPS
  VYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNL
  DMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLF
  RDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEV
  ARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRS
  ARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAAR
  DYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSI
  YLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVN
  NATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQ
  GPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRS
  GKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL

• Sequence length: 834

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs1809169096	RCV001797574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs144471639	RCV001661756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MSH5-related disorder	Likely pathogenic	rs375591471	RCV003406004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Likely pathogenic; Pathogenic	rs753519199, rs961633772, rs1562249204	RCV001391107 RCV001281663 RCV001281664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 13	Pathogenic	rs1060505055	RCV000477966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 74	Likely pathogenic; Pathogenic	rs753519199, rs961633772, rs1562249204	RCV002260705 RCV002260697 RCV002260698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	19808033, 22594646		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia	Azoospermia	Pubtator	22594646, 26199320, 35172124, 35742973	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36259570	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25827949		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27288692, 28273134		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22382497	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	26406233		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	25827949		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	17409188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19143814	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27515906	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19143814		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27515906		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	28093084	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36793102	Associate	★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	17409188, 20542071		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18706547, 35742973	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	18706547, 22594646	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 25 Autosomal Recessive	Inflammatory bowel disease	Pubtator	26193622	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22382497, 27288692	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	21792837		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21792837, 22233601	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	21792837		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	18204446, 26316170		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446, 24871463		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21792837, 22233601, 28273134		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	21792837		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	24598796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	18978787, 19654303, 22899653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27288692, 28273134		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26964030		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26964030		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27370712		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	26199320		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	27515906	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	19808033, 22594646		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18166824, 28175301		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	LHGDN	18166824		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26964030	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	18166824, 28175301		★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 13	Premature Ovarian Failure	GENOMICS_ENGLAND_DG	28175301		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREMATURE OVARIAN FAILURE 13	Premature Ovarian Failure	UNIPROT_DG	28175301		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREMATURE OVARIAN FAILURE 13	Premature Ovarian Failure	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	26964030		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26964030	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	25008864	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	20542071		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	20383147		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	27370712		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	24837172		★☆☆☆☆ Found in Text Mining only