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MLH3 (mutL homolog 3)

Identity

Alias_namesmutL (E. coli) homolog 3
mutL homolog 3 (E. coli)
Other aliasHNPCC7
HGNC (Hugo) MLH3
LocusID (NCBI) 27030
Atlas_Id 381
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 75013764 and ends at 75051532 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MLH3 (14q24.3) / ACSM3 (16p12.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Colon: Colorectal adenocarcinoma
Gastric Tumors: an overview


External links

Nomenclature
HGNC (Hugo)MLH3   7128
LRG (Locus Reference Genomic)LRG_217
Cards
Entrez_Gene (NCBI)MLH3  27030  mutL homolog 3
AliasesHNPCC7
GeneCards (Weizmann)MLH3
Ensembl hg19 (Hinxton)ENSG00000119684 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119684 [Gene_View]  chr14:75013764-75051532 [Contig_View]  MLH3 [Vega]
ICGC DataPortalENSG00000119684
TCGA cBioPortalMLH3
AceView (NCBI)MLH3
Genatlas (Paris)MLH3
WikiGenes27030
SOURCE (Princeton)MLH3
Genetics Home Reference (NIH)MLH3
Genomic and cartography
GoldenPath hg38 (UCSC)MLH3  -     chr14:75013764-75051532 -  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLH3  -     14q24.3   [Description]    (hg19-Feb_2009)
EnsemblMLH3 - 14q24.3 [CytoView hg19]  MLH3 - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBIMLH3 [Mapview hg19]  MLH3 [Mapview hg38]
OMIM604395   608089   614385   
Gene and transcription
Genbank (Entrez)AB039667 AF195657 AK298777 AL833875 BC012544
RefSeq transcript (Entrez)NM_001040108 NM_014381
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MLH3
Cluster EST : UnigeneHs.436650 [ NCBI ]
CGAP (NCI)Hs.436650
Alternative Splicing GalleryENSG00000119684
Gene ExpressionMLH3 [ NCBI-GEO ]   MLH3 [ EBI - ARRAY_EXPRESS ]   MLH3 [ SEEK ]   MLH3 [ MEM ]
Gene Expression Viewer (FireBrowse)MLH3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27030
GTEX Portal (Tissue expression)MLH3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHC1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHC1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHC1
Splice isoforms : SwissVarQ9UHC1
PhosPhoSitePlusQ9UHC1
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domains : Interpro (EBI)DNA_mismatch_repair_C    DNA_mismatch_repair_CS    HATPase_C    Mlh3    MutL_C    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domain families : Pfam (Sanger)DNA_mis_repair (PF01119)    MutL_C (PF08676)   
Domain families : Pfam (NCBI)pfam01119    pfam08676   
Domain families : Smart (EMBL)DNA_mis_repair (SM01340)  MutL_C (SM00853)  
Conserved Domain (NCBI)MLH3
DMDM Disease mutations27030
Blocks (Seattle)MLH3
SuperfamilyQ9UHC1
Human Protein AtlasENSG00000119684
Peptide AtlasQ9UHC1
HPRD05094
IPIIPI00005811   IPI00218050   IPI00922083   IPI01025309   IPI00747818   IPI01025658   IPI01025400   IPI01025055   IPI01025116   IPI01024767   IPI01024872   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHC1
IntAct (EBI)Q9UHC1
FunCoupENSG00000119684
BioGRIDMLH3
STRING (EMBL)MLH3
ZODIACMLH3
Ontologies - Pathways
QuickGOQ9UHC1
Ontology : AmiGOsynaptonemal complex  male germ cell nucleus  chromatin binding  satellite DNA binding  single-stranded DNA binding  protein binding  ATP binding  nucleus  chiasma  mismatch repair  mismatch repair  synaptonemal complex assembly  reciprocal meiotic recombination  male meiotic nuclear division  female meiosis I  protein localization  ATPase activity  centromeric DNA binding  mismatched DNA binding  mismatch repair complex  
Ontology : EGO-EBIsynaptonemal complex  male germ cell nucleus  chromatin binding  satellite DNA binding  single-stranded DNA binding  protein binding  ATP binding  nucleus  chiasma  mismatch repair  mismatch repair  synaptonemal complex assembly  reciprocal meiotic recombination  male meiotic nuclear division  female meiosis I  protein localization  ATPase activity  centromeric DNA binding  mismatched DNA binding  mismatch repair complex  
Pathways : KEGGMismatch repair   
NDEx NetworkMLH3
Atlas of Cancer Signalling NetworkMLH3
Wikipedia pathwaysMLH3
Orthology - Evolution
OrthoDB27030
GeneTree (enSembl)ENSG00000119684
Phylogenetic Trees/Animal Genes : TreeFamMLH3
HOVERGENQ9UHC1
HOGENOMQ9UHC1
Homologs : HomoloGeneMLH3
Homology/Alignments : Family Browser (UCSC)MLH3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLH3
dbVarMLH3
ClinVarMLH3
1000_GenomesMLH3 
Exome Variant ServerMLH3
ExAC (Exome Aggregation Consortium)MLH3 (select the gene name)
Genetic variants : HAPMAP27030
Genomic Variants (DGV)MLH3 [DGVbeta]
DECIPHERMLH3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLH3 
Mutations
ICGC Data PortalMLH3 
TCGA Data PortalMLH3 
Broad Tumor PortalMLH3
OASIS PortalMLH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMLH3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMLH3
intOGen PortalMLH3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Colon cancer gene variant databases
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch MLH3
DgiDB (Drug Gene Interaction Database)MLH3
DoCM (Curated mutations)MLH3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLH3 (select a term)
intoGenMLH3
Cancer3DMLH3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604395    608089    614385   
Orphanet3245   
MedgenMLH3
Genetic Testing Registry MLH3
NextProtQ9UHC1 [Medical]
TSGene27030
GENETestsMLH3
Huge Navigator MLH3 [HugePedia]
snp3D : Map Gene to Disease27030
BioCentury BCIQMLH3
ClinGenMLH3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27030
Chemical/Pharm GKB GenePA30845
Clinical trialMLH3
Miscellaneous
canSAR (ICR)MLH3 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLH3
EVEXMLH3
GoPubMedMLH3
iHOPMLH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:26:51 CEST 2017

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