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Aliases for MLH3 Gene

Aliases for MLH3 Gene

  • MutL Homolog 3 2 3
  • HNPCC7 3 6
  • DNA Mismatch Repair Protein Mlh3 3
  • MutL (E. Coli) Homolog 3 2
  • MutL Homolog 3 (E. Coli) 2
  • MutL Protein Homolog 3 4

External Ids for MLH3 Gene

Previous GeneCards Identifiers for MLH3 Gene

  • GC14M073009
  • GC14M069300
  • GC14M073473
  • GC14M074553
  • GC14M075481
  • GC14M055648

Summaries for MLH3 Gene

Entrez Gene Summary for MLH3 Gene

  • 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]

GeneCards Summary for MLH3 Gene

MLH3 (MutL Homolog 3) is a Protein Coding gene. Diseases associated with MLH3 include colorectal cancer, hereditary nonpolyposis, type 7 and mlh3-related lynch syndrome. Among its related pathways are Meiosis and Meiosis. GO annotations related to this gene include chromatin binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot for MLH3 Gene

  • Probably involved in the repair of mismatches in DNA

Gene Wiki entry for MLH3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLH3 Gene

Genomics for MLH3 Gene

Regulatory Elements for MLH3 Gene

Epigenetics Products

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

Genomic Location for MLH3 Gene

75,013,764 bp from pter
75,051,532 bp from pter
37,769 bases
Minus strand

Genomic View for MLH3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MLH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLH3 Gene

Proteins for MLH3 Gene

  • Protein details for MLH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA mismatch repair protein Mlh3
    Protein Accession:
    Secondary Accessions:
    • P49751
    • Q56DK9
    • Q9P292
    • Q9UHC0

    Protein attributes for MLH3 Gene

    1453 amino acids
    Molecular mass:
    163711 Da
    Quaternary structure:
    • Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1.
    • Sequence=AAC42005.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAC42005.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for MLH3 Gene


neXtProt entry for MLH3 Gene

Proteomics data for MLH3 Gene at MOPED

Post-translational modifications for MLH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MLH3 Gene

Domains for MLH3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q9UHC1
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with MLH3: view

No data available for Gene Families for MLH3 Gene

Function for MLH3 Gene

Molecular function for MLH3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Probably involved in the repair of mismatches in DNA

Gene Ontology (GO) - Molecular Function for MLH3 Gene

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 20603073
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MLH3: view
genes like me logo Genes that share phenotypes with MLH3: view

Animal Model Products

miRNA for MLH3 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLH3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MLH3 Gene

Localization for MLH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLH3 Gene

Subcellular locations from

Jensen Localization Image for MLH3 Gene COMPARTMENTS Subcellular localization image for MLH3 gene
Compartment Confidence
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for MLH3 Gene

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 --
genes like me logo Genes that share ontologies with MLH3: view

Pathways for MLH3 Gene

genes like me logo Genes that share pathways with MLH3: view

Pathways by source for MLH3 Gene

2 Reactome pathways for MLH3 Gene
1 KEGG pathway for MLH3 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for MLH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006298 mismatch repair NAS 12095912
GO:0006974 cellular response to DNA damage stimulus --
GO:0007130 synaptonemal complex assembly IEA --
GO:0007131 reciprocal meiotic recombination NAS 12095912
genes like me logo Genes that share ontologies with MLH3: view

Transcripts for MLH3 Gene

Unigene Clusters for MLH3 Gene

MutL homolog 3 (E. coli):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLH3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLH3 Gene

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

Relevant External Links for MLH3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MLH3 Gene

mRNA expression in normal human tissues for MLH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MLH3 Gene

This gene is overexpressed in Plasma (37.3), Seminal vesicle (20.4), and Rectum (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLH3 Gene

SOURCE GeneReport for Unigene cluster for MLH3 Gene Hs.436650

mRNA Expression by UniProt/SwissProt for MLH3 Gene

Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with MLH3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for MLH3 Gene

Orthologs for MLH3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MLH3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MLH3 35
  • 86.46 (n)
  • 80.25 (a)
MLH3 36
  • 80 (a)
(Canis familiaris)
Mammalia MLH3 35
  • 86.66 (n)
  • 79.23 (a)
MLH3 36
  • 78 (a)
(Mus musculus)
Mammalia Mlh3 35
  • 81.05 (n)
  • 72.86 (a)
Mlh3 16
Mlh3 36
  • 72 (a)
(Pan troglodytes)
Mammalia MLH3 35
  • 99.36 (n)
  • 98.97 (a)
MLH3 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Mlh3 35
  • 80.22 (n)
  • 72.41 (a)
(Monodelphis domestica)
Mammalia MLH3 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia MLH3 36
  • 71 (a)
(Gallus gallus)
Aves MLH3 35
  • 62.03 (n)
  • 54.03 (a)
MLH3 36
  • 48 (a)
(Anolis carolinensis)
Reptilia MLH3 36
  • 48 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mlh3 35
  • 63.35 (n)
  • 62.07 (a)
Str.7331 35
(Danio rerio)
Actinopterygii mlh3 35
  • 59.99 (n)
  • 55.24 (a)
mlh3 36
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL093C 35
  • 41.61 (n)
  • 31.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10032g 35
  • 42.09 (n)
  • 29.81 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLH3 35
  • 42.99 (n)
  • 28.78 (a)
MLH3 36
  • 23 (a)
MLH3 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
-- 36
  • 33 (a)
Species with no ortholog for MLH3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLH3 Gene

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

Paralogs for MLH3 Gene

genes like me logo Genes that share paralogs with MLH3: view

No data available for Paralogs for MLH3 Gene

Variants for MLH3 Gene

Sequence variations from dbSNP and Humsavar for MLH3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs13712 -- 75,017,109(-) CAGCA(A/G)TCCAT reference, synonymous-codon, nc-transcript-variant
rs108621 -- 75,013,934(+) CAGCA(C/T)ACTGG utr-variant-3-prime, nc-transcript-variant
rs108622 -- 75,015,205(+) TAGAT(A/G)TTTTT utr-variant-3-prime, nc-transcript-variant
rs149219 -- 75,044,077(+) AGAGC(A/G)AAACT intron-variant
rs149220 -- 75,036,970(+) acact(A/G)caacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MLH3 Gene

Variant ID Type Subtype PubMed ID
esv2489629 CNV Insertion 19546169
esv267486 CNV Insertion 20981092
esv272165 CNV Insertion 20981092
esv1578153 CNV Insertion 17803354
nsv510644 CNV Loss 20534489

Relevant External Links for MLH3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLH3 Gene

Disorders for MLH3 Gene

(3) OMIM Diseases for MLH3 Gene (604395)


  • Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors 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. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by 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. {ECO:0000269 PubMed:11586295}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:11317354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MLH3 Gene

(4) Novoseek inferred disease relationships for MLH3 Gene

Disease -log(P) Hits PubMed IDs
colorectal cancer 67.9 16
somatic mutations 53 4
tumors 9.71 4
cancer 0 2

Relevant External Links for MLH3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MLH3: view

No data available for Genatlas for MLH3 Gene

Publications for MLH3 Gene

  1. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. (PMID: 10615123) Lipkin S.M. … Collins F.S. (Nat. Genet. 2000) 2 3 4 48
  2. Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: evidence for somatic mutation in colorectal cancers. (PMID: 11317354) Lipkin S.M. … Collins F.S. (Hum. Mutat. 2001) 3 4 23
  3. Little evidence for involvement of MLH3 in colorectal cancer predisposition. (PMID: 12800209) Hienonen T. … Aaltonen L.A. (Int. J. Cancer 2003) 3 23 48
  4. No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. (PMID: 15193445) de Jong M.M. … Kleibeuker J.H. (Cancer Genet. Cytogenet. 2004) 3 23 48
  5. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H. … Gayther S.A. (Carcinogenesis 2006) 3 23 48

Products for MLH3 Gene

Sources for MLH3 Gene

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