KEGG   Homo sapiens (human): 4436
Entry
4436              CDS       T01001                                 
Symbol
MSH2, COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2, hMSH2
Name
(RefSeq) mutS homolog 2
  KO
K08735  DNA mismatch repair protein MSH2
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa03430  Mismatch repair
hsa05200  Pathways in cancer
hsa05210  Colorectal cancer
Network
nt06503  Mismatch repair
  Element
N01432  Mismatch repair
Disease
H00020  Colorectal cancer
H00027  Ovarian cancer
H00876  Mismatch repair deficiency
H02565  Hereditary nonpolyposis colorectal cancer
H02566  Muir-Torre syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03430 Mismatch repair
    4436 (MSH2)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    4436 (MSH2)
  09162 Cancer: specific types
   05210 Colorectal cancer
    4436 (MSH2)
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    4436 (MSH2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    4436 (MSH2)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   MMR (mismatch excision repair)
    Mismatch and loop recognition factors
     4436 (MSH2)
SSDB
Motif
Pfam: MutS_V MutS_III MutS_II MutS_I MutS_IV AAA_27
Other DBs
NCBI-GeneID: 4436
NCBI-ProteinID: NP_000242
OMIM: 609309
HGNC: 7325
Ensembl: ENSG00000095002
UniProt: P43246
Structure
Position
2:47403067..47709830
AA seq 934 aa
MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKT
QGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLA
YKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD
NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILITERKKADFSTKDIYQD
LNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYM
KLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERL
NLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQA
LEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSE
LREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFS
TVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLA
QLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKD
KQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLK
GVSTFMAEMLETASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMF
ATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHV
IECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMS
EENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT
NT seq 2805 nt   +upstreamnt  +downstreamnt
atggcggtgcagccgaaggagacgctgcagttggagagcgcggccgaggtcggcttcgtg
cgcttctttcagggcatgccggagaagccgaccaccacagtgcgccttttcgaccggggc
gacttctatacggcgcacggcgaggacgcgctgctggccgcccgggaggtgttcaagacc
cagggggtgatcaagtacatggggccggcaggagcaaagaatctgcagagtgttgtgctt
agtaaaatgaattttgaatcttttgtaaaagatcttcttctggttcgtcagtatagagtt
gaagtttataagaatagagctggaaataaggcatccaaggagaatgattggtatttggca
tataaggcttctcctggcaatctctctcagtttgaagacattctctttggtaacaatgat
atgtcagcttccattggtgttgtgggtgttaaaatgtccgcagttgatggccagagacag
gttggagttgggtatgtggattccatacagaggaaactaggactgtgtgaattccctgat
aatgatcagttctccaatcttgaggctctcctcatccagattggaccaaaggaatgtgtt
ttacccggaggagagactgctggagacatggggaaactgagacagataattcaaagagga
ggaattctgatcacagaaagaaaaaaagctgacttttccacaaaagacatttatcaggac
ctcaaccggttgttgaaaggcaaaaagggagagcagatgaatagtgctgtattgccagaa
atggagaatcaggttgcagtttcatcactgtctgcggtaatcaagtttttagaactctta
tcagatgattccaactttggacagtttgaactgactacttttgacttcagccagtatatg
aaattggatattgcagcagtcagagcccttaacctttttcagggttctgttgaagatacc
actggctctcagtctctggctgccttgctgaataagtgtaaaacccctcaaggacaaaga
cttgttaaccagtggattaagcagcctctcatggataagaacagaatagaggagagattg
aatttagtggaagcttttgtagaagatgcagaattgaggcagactttacaagaagattta
cttcgtcgattcccagatcttaaccgacttgccaagaagtttcaaagacaagcagcaaac
ttacaagattgttaccgactctatcagggtataaatcaactacctaatgttatacaggct
ctggaaaaacatgaaggaaaacaccagaaattattgttggcagtttttgtgactcctctt
actgatcttcgttctgacttctccaagtttcaggaaatgatagaaacaactttagatatg
gatcaggtggaaaaccatgaattccttgtaaaaccttcatttgatcctaatctcagtgaa
ttaagagaaataatgaatgacttggaaaagaagatgcagtcaacattaataagtgcagcc
agagatcttggcttggaccctggcaaacagattaaactggattccagtgcacagtttgga
tattactttcgtgtaacctgtaaggaagaaaaagtccttcgtaacaataaaaactttagt
actgtagatatccagaagaatggtgttaaatttaccaacagcaaattgacttctttaaat
gaagagtataccaaaaataaaacagaatatgaagaagcccaggatgccattgttaaagaa
attgtcaatatttcttcaggctatgtagaaccaatgcagacactcaatgatgtgttagct
cagctagatgctgttgtcagctttgctcacgtgtcaaatggagcacctgttccatatgta
cgaccagccattttggagaaaggacaaggaagaattatattaaaagcatccaggcatgct
tgtgttgaagttcaagatgaaattgcatttattcctaatgacgtatactttgaaaaagat
aaacagatgttccacatcattactggccccaatatgggaggtaaatcaacatatattcga
caaactggggtgatagtactcatggcccaaattgggtgttttgtgccatgtgagtcagca
gaagtgtccattgtggactgcatcttagcccgagtaggggctggtgacagtcaattgaaa
ggagtctccacgttcatggctgaaatgttggaaactgcttctatcctcaggtctgcaacc
aaagattcattaataatcatagatgaattgggaagaggaacttctacctacgatggattt
gggttagcatgggctatatcagaatacattgcaacaaagattggtgctttttgcatgttt
gcaacccattttcatgaacttactgccttggccaatcagataccaactgttaataatcta
catgtcacagcactcaccactgaagagaccttaactatgctttatcaggtgaagaaaggt
gtctgtgatcaaagttttgggattcatgttgcagagcttgctaatttccctaagcatgta
atagagtgtgctaaacagaaagccctggaacttgaggagtttcagtatattggagaatcg
caaggatatgatatcatggaaccagcagcaaagaagtgctatctggaaagagagcaaggt
gaaaaaattattcaggagttcctgtccaaggtgaaacaaatgccctttactgaaatgtca
gaagaaaacatcacaataaagttaaaacagctaaaagctgaagtaatagcaaagaataat
agctttgtaaatgaaatcatttcacgaataaaagttactacgtga

  All links  
Disease (4)   
   OMIM (4)   
Gene (44)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
   PRONIT (25)   
Protein sequence (41)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (39)   
DNA sequence (128)   
   RefSeq(nuc) (60)   
   GenBank (34)   
   EMBL (34)   
3D Structure (22)   
   PDB (22)   
Protein domain (6)   
   Pfam (6)   
All databases (245)   

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