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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MLH3 Gene

protein-coding GIFtS: 63
GCID: GC14M075481

mutL homolog 3 (E. coli)

(Previous name: mutL (E. coli) homolog 3 )

Explore 24 diseases affiliated with
MLH3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
MutL Homolog 3 (E. Coli)¹ ²
HNPCC7² ⁵
MutL (E. Coli) Homolog 3¹
DNA Mismatch Repair Protein Mlh3²
MutL Protein Homolog 3³

External Ids:	HGNC: 7128¹	Entrez Gene: 27030²	Ensembl: ENSG00000119684⁷	OMIM: 604395⁵	UniProtKB: Q9UHC1³

Export aliases for MLH3 gene to outside databases

Previous GC identifers: GC14M073009 GC14M069300 GC14M073473 GC14M074553 GC14M055648

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MLH3:

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in

maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene

functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors

exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal

cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length

nature of only two transcript variants has been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MLH3_HUMAN, Q9UHC1

Function: Probably involved in the repair of mismatches in DNA

Gene Wiki entry for MLH3

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MLH3 gene promoter:
GR GR-beta FOXD1 IRF-1 Roaz Arnt c-Rel c-Myb GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MLH3 promoter sequence

Search SABiosciences Chromatin IP Primers for MLH3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLH3

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

Entrez Gene cytogenetic band: 14q24.3 Ensembl cytogenetic band: 14q24.3 HGNC cytogenetic band: 14q24.3

MLH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLH3 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M075481: view genomic region (about GC identifiers)

Start:	75,480,467 bp from pter	End:	75,518,235 bp from pter
Size:	37,769 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MLH3_HUMAN, Q9UHC1 (See protein sequence)

Recommended Name: DNA mismatch repair protein Mlh3

Size: 1453 amino acids; 163711 Da

Subunit: Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1

Subcellular location: Nucleus (Potential)

Sequence caution: Sequence=AAC42005.1; Type=Frameshift; Positions=Several; Sequence=AAC42005.1; Type=Miscellaneous

discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;

Secondary accessions: P49751 Q56DK9 Q9P292 Q9UHC0

Alternative splicing: 2 isoforms: Q9UHC1-1 Q9UHC1-2

Explore the universe of human proteins at neXtProt for MLH3: NX_Q9UHC1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UHC1

MLH3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035197.1 NP_055196.2

ENSEMBL proteins:

ENSP00000451055 ENSP00000238662 ENSP00000451130 ENSP00000451540 ENSP00000452316

ENSP00000452136 ENSP00000450647 ENSP00000451192 ENSP00000451095 ENSP00000348020

ENSP00000370355 ENSP00000441371

Reactome Protein details: Q9UHC1
Human Recombinant Protein Products:

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	Novus Biologicals MLH3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MLH3

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000793	condensed chromosome	--	--
GO:0000795	synaptonemal complex	IBA	--
GO:0001673	male germ cell nucleus	IEA	--
GO:0005634	nucleus	TAS	10615123
GO:0005712	chiasma	IBA	--

MLH3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MLH3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MLH3 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR002099 DNA_mismatch_repair

IPR020568 Ribosomal_S5_D2-typ_fold

IPR003594 ATPase-like_ATP-bd

IPR014762 DNA_mismatch_repair_CS

IPR013507 DNA_mismatch_repair_C

Graphical View of Domain Structure for InterPro Entry Q9UHC1

ProtoNet protein and cluster: Q9UHC1

2 Blocks protein families:

IPB002099 DNA mismatch repair protein

IPB003594 ATP-binding region

UniProtKB/Swiss-Prot: MLH3_HUMAN, Q9UHC1

Similarity: Belongs to the DNA mismatch repair MutL/HexB family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MLH3_HUMAN, Q9UHC1

Function: Probably involved in the repair of mismatches in DNA

Genatlas biochemistry entry for MLH3:

yeast mutator gene homolog (bacterial Mut L),ubiquitously expressed,highly in gastrointestinal epithelium,interacting

with MLH1,putatively primarily involved in repair of insestion/deletion loops and associated with microsatellite

instability

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MLH3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLH3
		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MLH3 (see all 26):
		hsa-miR-3128 hsa-miR-548k hsa-miR-15a hsa-miR-4263 hsa-miR-944 hsa-miR-488 hsa-miR-650 hsa-miR-424

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLH3 (see all 6) OriGene siRNA: MLH3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLH3

Gene Editing
Products:

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MLH3
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLH3

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0003696	satellite DNA binding	TAS	10615123
GO:0003697	single-stranded DNA binding	IBA	--
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--

MLH3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MLH3:

Decreased viability of wild-ty

Animal Models:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mlh3):

endocrine/exocrine gland

reproductive system

MLH3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Meiotic Synapsis

Meiosis

0.70

Meiotic Recombination

0.32

Lagging Strand Synthesis

Mismatch repair

0.48

Formation of Meiotic Holliday Junction

Resolution of Meiotic Holliday Junction

0.31

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for MLH3

	Resolution of Meiotic Holliday Junction
	Meiosis
	Meiotic Recombination

1 Kegg Pathway (Kegg details for MLH3):

Mismatch repair

MLH3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MLH3

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/24 Interacting proteins for MLH3 (Q9UHC1³ ENSP00000348020⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MLH1	P40692³, ENSP00000231790⁴	I2D: score=4 STRING: ENSP00000231790
AR	P10275³, ENSP00000363822⁴	I2D: score=1 STRING: ENSP00000363822
FAN1	Q9Y2M0³, ENSP00000354497⁴	I2D: score=1 STRING: ENSP00000354497
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
MSH4	O15457³, ENSP00000263187⁴	I2D: score=2 STRING: ENSP00000263187

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	IBA	--
GO:0006298	mismatch repair	NAS	12095912
GO:0006974	response to DNA damage stimulus	--	--
GO:0007130	synaptonemal complex assembly	IEA	--
GO:0007131	reciprocal meiotic recombination	NAS	12095912

MLH3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MLH3
Search CenterWatch for drugs/clinical trials and news about MLH3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MLH3 gene (2 alternative transcripts):

NM_001040108.1 NM_014381.2

Unigene Cluster for MLH3:

MutL homolog 3 (E. coli)

Hs.436650 [show with all ESTs]

Unigene Representative Sequence: NM_001040108

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000554697 ENST00000238662 ENST00000553713 ENST00000555415 ENST00000556257

ENST00000556740 ENST00000556453 ENST00000555144 ENST00000555499 ENST00000555671

ENST00000553263 ENST00000557648 ENST00000355774(uc010tuy.1 uc001xrd.1 uc001xre.1)

ENST00000380968 ENST00000544985

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MLH3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLH3
		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MLH3 (see all 26):
		hsa-miR-3128 hsa-miR-548k hsa-miR-15a hsa-miR-4263 hsa-miR-944 hsa-miR-488 hsa-miR-650 hsa-miR-424

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLH3 (see all 6) OriGene siRNA: MLH3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLH3

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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MLH3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MLH3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLH3

Additional cDNA sequence:

AB039667.1 AF195657.1 AK298777.1 AL833875.1 BC012544.1 BC036866.2 BC112167.1 BC143729.1

L40399.1

11 DOTS entries:

DT.91760577 DT.91760575 DT.100745194 DT.120785360 DT.95159683 DT.95159686 DT.97803644 DT.92017392

DT.100678744 DT.121093623 DT.121093685

24/125 AceView cDNA sequences (see all 125):

AA649171 BU630165 AB039667 BX090851 BQ878851 CB118745 BC036866 BM551767

BX105329 CA311614 AA679054 BM989024 BF513803 AU121422 BM272299 R20012

AL833875 AA242859 BQ716451 AA128983 AI694991 BF540730 BQ029884 AF195657

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for MLH3 About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b
SP1:			-																-
SP2:
SP3:

ECgene alternative splicing isoforms for MLH3

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MLH3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MLH3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Primary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MLH3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLH3

SOURCE GeneReport for Unigene cluster: Hs.436650

UniProtKB/Swiss-Prot: MLH3_HUMAN, Q9UHC1

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Arrays including MLH3:

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLH3

(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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for MLH3 gene from 9/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mlh3^{1 , 5}	mutL homolog 3 (E coli)^{1, 5}	81.05(n)¹ 72.86(a)¹		12 (39.61 cM)⁵ 217716¹ NM_175337.1¹ NP_780546.1¹ 85234520⁵
chicken (Gallus gallus)	Aves	LOC100859200¹	DNA mismatch repair protein Mlh3-like	64.47(n) 59.67(a)		100859200 XM_003641300.1 XP_003641348.1
lizard (Anolis carolinensis)	Reptilia	MLH3⁶	--	48(a)	1 ↔ 1	1(22612860-22625059)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.7331²	Transcribed sequence with weak similarity to protein more	80.56(n)		BG515318.1
zebrafish (Danio rerio)	Actinopterygii	mlh3¹	mutL homolog 3 (E. coli)	54.3(n) 46.65(a)		568323 XM_691647.3 XP_696739.3
honey bee (Apis mellifera)	Insecta	--	--	21(a)	1 ↔ 1	Group10.15(82334-85148)
thale cress (Arabidopsis thaliana)	eudicotyledons	MLH3⁶	DNA mismatch repair protein MLH3	18(a)	1 ↔ 1	4(16865488-16871764)
rice (Oryza sativa)	Liliopsida	--	expressed protein	16(a)	1 ↔ 1	9(21868379-21878106)
E. coli (Escherichia coli)	Gamma proteobacteria	mutL⁶	methyl-directed mismatch repair protein	18(a)	1 → many	Chromosome(4395435-4397282)

ENSEMBL Gene Tree for MLH3 (if available)
TreeFam Gene Tree for MLH3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28756990^1,2	C,F,H,	pathogenic	96134756(-)	`CAATCA/G/TTCCGT`	6	I V F	mis¹ ese³		21		NS EA NA WA EU	7955
rs28937870^1,2	C	unknown	96132605(-)	`TGGGCC/GAATGT`	4	Q E	mis¹ ese³		2		NA	4
rs28937871^1,2	C	unknown	96134031(-)	`AGAAAA/GTCCGT`	4	N S	mis¹ ese³		1		NA	2
rs28939071^1,2	C,F	unknown	96165444(-)	`CCTGTG/AAGCCA`	4	/K /E	mis¹		2		NA EU	5873
rs28453803^1,2		--	55648099(+)	`ACACGA/CTTGGA`	2	--	ds500¹		0	--	--	--	--
rs77514025^1,2	F,	--	55648487(+)	`TGGCCG/AGTTCT`	2	--	ut3¹		1		WA	118
rs10134636^1,2	C,F,	--	55648662(+)	`GGCTCG/ACTAGG`	2	--	ut3¹		1		WA	118
rs74064149^1,2	C,	--	55649220(+)	`AAAGGA/GACTCT`	2	--	ut3¹		2		WA	120
rs28757060^1,2	C,F,	--	55649453(-)	`GTTTGC/TTGAAG`	2	--	ut3¹		6		NS WA	308
rs28757059^1,2	C,F,	--	55649731(-)	`CCTTTA/GTCGCC`	2	--	ut3¹		8		NS CSA WA NA	428

HapMap Linkage Disequilibrium report for MLH3 (75480467 - 75518235 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MLH3
1 CNV: 101984
Human Gene Mutation Database (HGMD): MLH3

Locus Specific Mutation Databases (LSDB): MLH3

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MLH3

DNA2.0 Custom Variant and Variant Library Synthesis for MLH3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MLH3 for disorders           About GeneDecksing

OMIM gene information: 604395
OMIM disorders: 114500  608089
UniProtKB/Swiss-Prot: MLH3_HUMAN, Q9UHC1

Defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385].

Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype

(also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2

genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility.

It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers

of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of

inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC

originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type

I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon.

Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach,

small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam

criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more

generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis

syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only

partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected

Defects in MLH3 are a cause of colorectal cancer (CRC) [MIM:114500]

20/24 diseases for MLH3 (see all 24): About MalaCards

colon cancer, hereditary nonpolyposis, type 7 colorectal cancer early-onset familial alzheimer disease colorectal cancer, somatic

male infertility lynch syndrome fanconi's anemia epithelial ovarian cancer

familial colorectal cancer colon cancer alzheimer's disease ovarian cancer

infertility azoospermia endometrial cancer anemia

polyposis esophageal cancer esophagitis astrocytoma

2 diseases from the University of Copenhagen DISEASES database for MLH3:

Lynch syndrome Colorectal cancer

4 Novoseek disease relationships for MLH3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
colorectal cancer	67.9	19	11317354 (4), 15193445 (3), 18521850 (2), 10934138 (2) (see all 8)
somatic mutations	53	5	10934138 (2), 18206535 (1), 11317354 (1)
tumors	9.71	4	10934138 (2), 11317354 (2)
cancer	0	2	18521850 (1), 10934138 (1)

Genetic Association Database (GAD): MLH3
Human Genome Epidemiology (HuGE) Navigator: MLH3 (13 documents)

Export disorders for MLH3 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)
About This Section

PubMed articles for MLH3 gene, integrated from 9 sources (see all 48):
(articles sorted by number of sources associating them with MLH3)

Utopia: connect your pdf to the dynamic
world of online information

MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. (PubMed id 10615123)^{1, 2, 3, 4} Lipkin S.M.... Collins F.S. (2000)
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: evidence for somatic mutation in colorectal cancers. (PubMed id 11317354)^{1, 2, 9} Lipkin S.M.... Collins F.S. (2001)
Little evidence for involvement of MLH3 in colorectal cancer predisposition. (PubMed id 12800209)^{1, 4, 9} Hienonen T....Aaltonen L.A. (2003)
No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. (PubMed id 15193445)^{1, 4, 9} de Jong M.M....Kleibeuker J.H. (2004)
A genetic screen identifies FAN1, a Fanconi anemia-as sociated nuclease necessary for DNA interstrand crosslink repair. (PubMed id 20603073)^{1, 2} Smogorzewska A....Elledge S.J. (2010)
A role for MLH3 in hereditary nonpolyposis colorectal cancer. (PubMed id 11586295)^{1, 2} Wu Y.... Hofstra R.M.W. (2001)
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. (PubMed id 11292842)^{1, 2} Kondo E.... Fukushige S. (2001)
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. (PubMed id 7596406)^{1, 2} Sherrington R....Holman K. (1995)
The first functional study of MLH3 mutations found in cancer patients. (PubMed id 18521850)^{1, 9} Korhonen M.K....Nystrom M. (2008)
Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PubMed id 16774946)^{1, 9} Song H....Gayther S.A. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 27030	HGNC: 7128	AceView: MLH3	Ensembl:ENSG00000119684	euGenes: HUgn27030
ECgene: MLH3	Kegg: 27030	H-InvDB: MLH3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MLH3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MLH3	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/mlh3/

Intellectual Property for MLH3 gene
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Patent Information for MLH3 gene:
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GeneCards and IP:
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mutL homolog 3 (E. coli)

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mutL homolog 3 (E. coli)

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