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MSH5 Gene

protein-coding GIFtS: 63
GCID: GC06P031707

MutS Homolog 5

(Previous names: mutS (E. coli) homolog 5, mutS homolog 5 (E. coli))

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
MutS Homolog 5¹ ²		MUTSH5²
MutS (E. Coli) Homolog 5¹		NG23²
MutS Homolog 5 (E. Coli)¹		MutS Protein Homolog 5²
G7²		hMSH5³

External Ids:	HGNC: 7328¹	Entrez Gene: 4439²	Ensembl: ENSG00000204410⁷	OMIM: 603382⁵	UniProtKB: O43196³

ORGUL members:

Export aliases for MSH5 gene to outside databases

Previous GC identifers: GC06P031771 GC06P031478 GC06P031812 GC06P031815

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MSH5 Gene:

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 during meiosis. This protein plays a role in promoting ionizing

radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog

4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common

variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript

variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading

frame 26 (C6orf26) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for MSH5 Gene:

MSH5 (mutS homolog 5) is a protein-coding gene. Diseases associated with MSH5 include common variable immunodeficiency, and immunoglobulin alpha deficiency. GO annotations related to this gene include mismatched DNA binding and DNA-dependent ATPase activity. An important paralog of this gene is MSH5-SAPCD1.

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196

Function: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity)

Gene Wiki entry for MSH5 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000006.12 NC_018917.2 NT_007592.16 NT_113891.3 NT_167244.2 NT_167245.2 NT_167246.2 NT_167247.2

NT_167248.2 NT_167249.2

Regulatory elements:

Regulatory transcription factor binding sites in the MSH5 gene promoter:
Sp1 p53 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MSH5 promoter sequence

Search Chromatin IP Primers for MSH5

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MSH5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.3

MSH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSH5 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P031707: view genomic region (about GC identifiers)

Start:	31,707,725 bp from pter	End:	31,732,622 bp from pter
Size:	24,898 bases	Orientation:	plus strand

Selected alternative locations (see all 7):

Chr6+,NT_113891.2 3,217,334-3,240,041	Chr6+,NT_167246 3,050,615-3,058,094	Chr6+,NT_167245 2,993,299-3,016,037
Chr6+,NT_167248 3,001,363-3,023,045	Chr6+,NT_167247 3,087,409-3,110,152	Chr6+,NT_167244 3,040,680-3,045,206

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MSH5

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196 (See protein sequence)

Recommended Name: MutS protein homolog 5

Size: 834 amino acids; 92875 Da

Subunit: Heterooligomer of MSH4 and MSH5. Interacts with HJURP

Secondary accessions: B0V033 B0V034 O60586 Q5BLU9 Q5SSR1 Q8IW44 Q9BQC7

Alternative splicing: 4 isoforms: O43196-1 O43196-2 O43196-3 O43196-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MSH5: NX_O43196

Explore proteomics data for MSH5 at MOPED

Post-translational modifications:

Ubiquitination² at Lys105, Lys584

Modification sites at PhosphoSitePlus

See MSH5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_002432.1 NP_079535.4 NP_751897.1 NP_751898.1

ENSEMBL proteins:

ENSP00000364908 ENSP00000364903 ENSP00000402842 ENSP00000364855 ENSP00000364892

ENSP00000406352 ENSP00000419648 ENSP00000394971 ENSP00000419131 ENSP00000379194

ENSP00000420232 ENSP00000406849 ENSP00000364894 ENSP00000431693 ENSP00000416784

Reactome Protein details: O43196

MSH5 Human Recombinant Protein Products:

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	Cloud-Clone Corp. ELISAs for MSH5 Cloud-Clone Corp. CLIAs for MSH5

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR007861 DNA_mismatch_repair_MutS_clamp

IPR007696 DNA_mismatch_repair_MutS_core

IPR027417 P-loop_NTPase

IPR000432 DNA_mismatch_repair_MutS_C

Graphical View of Domain Structure for InterPro Entry O43196

ProtoNet protein and cluster: O43196

1 Blocks protein domain: IPB007696 MutS III

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196

Similarity: Belongs to the DNA mismatch repair MutS family

MSH5 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: MSH5_HUMAN, O43196

Function: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity)

Genatlas biochemistry entry for MSH5:

yeast meiosis specific protein,mutator gene homolog (bacteria Mut S homolog 5) interacting with

MSH4,92.9kDa,ubiquitous,mostly expressed in testis,thymus, and immune system,putatively required for chromosome

pairing in meiosis and DNA replicative mismatch repair

Gene Ontology (GO): Selected molecular function terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003684	NOT damaged DNA binding	IRD	--
GO:0005515	protein binding	IPI	16397227
GO:0005524	ATP binding	IEA	--
GO:0008094	DNA-dependent ATPase activity	IBA	--

MSH5 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Msh5):

cellular

endocrine/exocrine gland

reproductive system

MSH5 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for MSH5: Msh5^tm1Rak Msh5^tm1Htr

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MSH5

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MSH5

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genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSH5

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Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for MSH5
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MSH5

Clone Products:		OriGene clones in human, mouse for MSH5 (see all 24) OriGene ORF clones in mouse, rat for MSH5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSH5
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		Browse ESI BIO Cell Lines and PureStem Progenitors for MSH5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH5

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	3
mitochondrion	2
cytosol	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000795	synaptonemal complex	IBA	--
GO:0032300	NOT mismatch repair complex	IRD	--

MSH5 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for MSH5 About

See pathways by source

SuperPath

Contained pathways About

Meiosis (REACTOME)

Meiosis

0.74

Meiotic Recombination

0.74

Ovarian Infertility Genes

Ovarian Infertility Genes

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for MSH5

Ovarian Infertility Genes

1 Reactome Pathway for MSH5

Meiotic recombination

MSH5 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including MSH5:

DNA Repair in human mouse rat

Interactions:

GeneGlobe Interaction Network for MSH5

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MSH5 (O43196^{1, 2, 3} ENSP00000364894⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519¹^,²^,³, ENSP00000361423⁴	EBI-6092730,EBI-375543 MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7158255 MINT-7309724 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 STRING: ENSP00000361423
MSH4	O15457¹^,²^,³, ENSP00000263187⁴	EBI-6092730,EBI-6092777 MINT-7158693 MINT-7158702 MINT-7158714 MINT-7158651 I2D: score=9 STRING: ENSP00000263187
MRE11A	P49959³, ENSP00000325863⁴	I2D: score=6 STRING: ENSP00000325863
TRIP13	Q15645³, ENSP00000166345⁴	I2D: score=1 STRING: ENSP00000166345
NDC80	O14777³	I2D: score=6

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Gene Ontology (GO): Selected biological process terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000710	NOT meiotic mismatch repair	IRD	--
GO:0006200	ATP catabolic process	IBA	--
GO:0006298	mismatch repair	TAS	9740671
GO:0007126	meiotic nuclear division	TAS	9740671
GO:0007131	reciprocal meiotic recombination	IBA	--

MSH5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for MSH5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MSH5 gene (4 alternative transcripts):

NM_002441.4 NM_025259.5 NM_172165.3 NM_172166.3

Unigene Cluster for MSH5:

MutS homolog 5 (E. coli)

Hs.647011 [show with all ESTs]

Unigene Representative Sequence: NR_037846

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000375755 ENST00000375750 ENST00000425703 ENST00000463094 ENST00000482280

ENST00000375703 ENST00000375740 ENST00000423982 ENST00000463144 ENST00000450148

ENST00000497269 ENST00000468602 ENST00000468136 ENST00000395853(uc003nwy.1)

ENST00000467319 ENST00000494646 ENST00000484309 ENST00000429846

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSH5
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Primer Products:		OriGene qPCR primer pairs and template standards for MSH5 OriGene qSTAR qPCR primer pairs in human, mouse for MSH5
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat MSH5
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		QuantiFast Probe-based Assays in human, mouse, rat MSH5

Additional mRNA sequence:

AF034759.1 AF048986.1 AF070071.1 AK303129.1 AK304221.1 BC001358.2 BC002498.2 BC041031.1

BT007200.1 NR_037846.1

17 DOTS entries:

DT.92429774 DT.100789192 DT.121408300 DT.95274369 DT.75102357 DT.100789187 DT.100026601 DT.121408285

DT.121408310 DT.302179 DT.100687934 DT.100789190 DT.203689 DT.86857350 DT.95154171 DT.121408227

DT.97842306

Selected AceView cDNA sequences (see all 185):

AA971011 AF048986 AA588121 CD671687 BI062976 AA503388 CA394021 NM_002441

AA135366 BU950346 BI063399 CA427196 AF048987 BU783156 AI028151 AI979234

NM_025259 BF908043 AA632264 BU950645 AA470697 AI261444 BC002498 BE276767

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MSH5 expression in normal human tissues (normalized intensities) MSH5 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCCTCTTTGT

About this image

MSH5 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Ovary (Reproductive System)
Primary Oocyte Primordial Follicle

Gonad
Primary Oocyte Primordial Follicle

MSH5 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

MSH5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.647011

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196

Tissue specificity: Ubiquitous, but highly expressed in testis, and thymus

Pathway & Disease-focused RT² Profiler PCR Array including MSH5:

DNA Repair in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for MSH5 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Msh5^{1 , 5}	mutS homolog 5 (E. coli)^{1, 5}	87.09(n)¹ 89.59(a)¹		17 (18.57 cM)⁵ 17687¹ NM_013600.2¹ NP_038628.2¹ 35028605⁵
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	66(a)	1 → many	1(204006023-204008419)
tropical clawed frog (Xenopus tropicalis)	Amphibia	msh5¹	mutS homolog 5 (E. coli)	61.42(n) 59.08(a)		100489595 XM_002939465.2 XP_002939511.2
zebrafish (Danio rerio)	Actinopterygii	msh5¹	mutS homolog 5 (E. coli)	59.29(n) 55.37(a)		570030 XM_005157792.1 XP_005157849.1
mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP002642¹	AgaP_AGAP002642	46.38(n) 33.74(a)		1273320 XM_312286.5 XP_312286.5
worm (Caenorhabditis elegans)	Secernentea	msh-5^{1 , 3}	Yeast DNA mismatch repair protein MSH5 like³ msh-5¹	30(a)³ 42.09(n)¹ 31.7(a)¹		IV(13155403-13164118)³ 178268¹ NM_070130.6¹ NP_502531.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MSH5(YDL154W)⁴ MSH5¹	Protein of the MutS family, forms a dimer with Msh4p more⁴ MSH5¹	42.96(n)¹ 33.22(a)¹		4(178334-181039)⁴ 851401^{1, 4} NP_010127.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	MSH5¹	MSH5	44.12(n) 33.56(a)		821593 NM_112939.3 NP_188683.3
rice (Oryza sativa)	Liliopsida	Os05g0498300¹	Os05g0498300	45.43(n) 34.56(a)		4339215 NM_001062483.1 NP_001055948.1

ENSEMBL Gene Tree for MSH5 (if available)
TreeFam Gene Tree for MSH5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MSH5 gene

MSH5-SAPCD1²

3 SIMAP similar genes for MSH5 using alignment to 10 protein entries: MSH5_HUMAN (see all proteins):

G7 DKFZp434C1615 MSH5-SAPCD1

MSH5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs59291719^1,2	C	--	31495764(+)	`AAAAA-/A/AA GTTTT`	4	--	int¹		1		NA	2
rs9279404^1,2	C	--	31499751(+)	`ttttt-/T/TT gatac`	4	--	int¹		1		NA	2
rs140639737^1,2	C	--	31622719(+)	`TACAGC/TTCCAG`	4	--	us2k¹		0	--	--	--	--
rs3101018^1,2	C,F,H	--	31622817(-)	`ATCACG/ATCACT`	4	--	us2k¹ tfbs³		19		NS EA NA WA	1972
rs116282144^1,2	F	--	31622987(+)	`TGCCTC/GTGTGT`	4	--	us2k¹		1		WA	118
rs151113991^1,2	C	--	31623393(+)	`TGCATG/TTCTCC`	4	--	us2k¹		0	--	--	--	--
rs28381339^1,2	C,F	--	31623427(+)	`TCTCTG/CGGCTT`	4	--	us2k¹		6		NS NA	302
rs28381340^1,2	C	--	31623556(+)	`AGTTTC/TTATAG`	4	--	us2k¹		5		NS	182
rs187907322^1,2		--	31623593(+)	`GGTAAC/TCATTA`	4	--	us2k¹		0	--	--	--	--
rs200562778^1,2		--	31623799(+)	`TATAT-/ATATAT`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MSH5 (31707725 - 31732622 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for MSH5: About this table

Variant ID	Type	Subtype	PubMed ID
dgv6583n71	CNV	Loss	21882294
dgv6582n71	CNV	Loss	21882294
nsv819978	CNV	Loss	19587683
nsv884418	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): MSH5

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603382 OMIM disorders: --

17 diseases for MSH5: About MalaCards

common variable immunodeficiency immunoglobulin alpha deficiency premature ovarian failure male infertility

azoospermia infertility intrahepatic cholangiocarcinoma cholangiocarcinoma

systemic lupus erythematosus meningioma colorectal cancer type 1 diabetes

lupus erythematosus lung cancer rheumatoid arthritis arthritis

malaria

1 disease from the University of Copenhagen DISEASES database for MSH5:

Common variable immunodeficiency

MSH5 for disorders About GeneDecksing

1 Novoseek inferred disease relationship for MSH5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
colorectal cancer	24.5	1	9740671 (1)

Genetic Association Database (GAD): MSH5
Human Genome Epidemiology (HuGE) Navigator: MSH5 (15 documents)

Export disorders for MSH5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MSH5 gene, integrated from 10 sources (see all 48):
(articles sorted by number of sources associating them with MSH5)

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Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene. (PubMed id 9740671)^{1, 2, 3, 9} Her C. and Doggett N.A. (Genomics 1998)
Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene. (PubMed id 9787078)^{1, 2, 3, 9} Winand N.J.... Kolodner R.D. (Genomics 1998)
Genetic investigation of four meiotic genes in women with premature ovarian failure. (PubMed id 18166824)^{1, 4, 9} Mandon-PAcpin B....Fellous M. (Eur. J. Endocrinol. 2008)
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. (PubMed id 19808033)^{1, 4} Xu K....Xiang Y. ( international journal of clinical chemistry 2010)
MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility. (PubMed id 20542071)^{1, 4} Pozo N.D....NA_A+ez C. (Hum. Immunol. 2010)
Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)^{1, 4} Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. (PubMed id 20848568)^{1, 4} Sanchez E....AlarcA^n-Riquelme M.E. (Arthritis Rheum. 2010)
Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PubMed id 20378615)^{1, 4} Aston K.I....Carrell D.T. (Hum. Reprod. 2010)
Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. (PubMed id 19143814)^{1, 4} Valdes A.M. and Thomson G. (amp 2009)
High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)^{1, 4} Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4439	HGNC: 7328	AceView: MSH5	Ensembl:ENSG00000204410	euGenes: HUgn4439
ECgene: MSH5	H-InvDB: MSH5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MSH5	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MSH5	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/msh5/

Intellectual Property for MSH5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MSH5 gene:
Search GeneIP for patents involving MSH5

GeneCards and IP:
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