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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. MLH1, mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Sequence ID:NM_000249
NM_001167617
NM_001167618
NM_001167619
NM_001258271
NM_001258273
NM_001258274
RefSeqGene ID:NG_007109
Entrez Gene ID:4292
Ensembl ID:ENSG00000076242

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 
MISMATCH REPAIR CANCER SYNDROMEAPC
APC
MSH2
MSH6
PMS2
MUIR-TORRE SYNDROMEMSH2

Cytogenetic Location (from UniGene)

Cytogenetic Location:3p21.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 37035063 - 37092335

 Exon Info From UCSC:
NM_000249
NM_001167617
NM_001167618
NM_001167619

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3451538Full LengthBC006850mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000240  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000249 NP_000240 P40692
Q5GJ64
DNA_mis_repair
HATPase_c
NM_001167617 NP_001161089    
NM_001167618 NP_001161090    
NM_001167619 NP_001161091    
NM_001258271 NP_001245200    
NM_001258273 NP_001245202    
NM_001258274 NP_001245203    

Related Sequences

 
mRNAGenPeptSwissProt
U07418 AAA17374 P40692
S77856 AAB34135 Q16335
AF001359 AAB58936 O00497
U07343 AAC50285 P40692
Q5GJ64
BC006850 AAH06850 P40692
Q5GJ64
AY517558 AAT44531 P40692
Q5GJ64
DQ648888 ABG49483 Q0ZAJ8
DQ648889 ABG49484 Q0ZAJ7
DQ648890 ABG49485 Q0ZAJ6
DQ648891 ABG49486 Q0ZAJ5
DQ648892 ABG49487 Q0ZAJ4
DQ648893 ABG49488 Q0ZAJ3
EU176562 ABW03363  
EU176254 ABW03705  
EU188665 ABW69161 A8W2I7
EU188666 ABW69162 A8W2J0
EU188667 ABW69163 A8W2J3
EU188668 ABW69164 A8W2J6
EU188669 ABW69165 A8W2J9
EU188670 ABW69166 A8W2K2
EU188671 ABW69167 A8W2K5
EU188672 ABW69168 A8W2K8
EU188673 ABW69169 A8W2L2
EU188674 ABW69170 A8W2L5
EU188675 ABW69171 A8W2L8
EU188676 ABW69172 A8W2M1
AB209848 BAD93085 Q59EG3
AK222810 BAD96530 Q53GX1
AK312609 BAG35497 B2R6K0
AK295359 BAG58325 B4DI13
AK298324 BAG60576 B4DI13
AK298583 BAG60773 B4DQ11
AK302807 BAH13807 B7Z821
AK316074 BAH14445 B4DI13
AK316264 BAH14635 B4DI13

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MLH1 NP_000240 M.musculus Mlh1 17350 Gene Info NP_081086 89
R.norvegicus Mlh1 81685   NP_112315 87
A.gambiae AgaP_AGAP012192 1280495   XP_320342 53
D.melanogaster Mlh1 35796   NP_477022 53
N.crassa NCU08309 3878663   XP_962522 49
A.thaliana MLH1 826493   NP_567345 45
S.pombe mlh1 2539949   NP_596199 42
S.cerevisiae MLH1 855203   NP_013890 41

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)