KEGG   Homo sapiens (human): 5395
Entry
5395              CDS       T01001                                 
Symbol
PMS2, HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMS2CL, PMSL2
Name
(RefSeq) PMS1 homolog 2, mismatch repair system component
  KO
K10858  DNA mismatch repair protein PMS2
Organism
hsa  Homo sapiens (human)
Pathway
hsa03430  Mismatch repair
hsa03460  Fanconi anemia pathway
Network
nt06503  Mismatch repair
  Element
N01432  Mismatch repair
Disease
H00876  Mismatch repair deficiency
H02565  Hereditary nonpolyposis colorectal cancer
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03430 Mismatch repair
    5395 (PMS2)
   03460 Fanconi anemia pathway
    5395 (PMS2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    5395 (PMS2)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   MMR (mismatch excision repair)
    MutL homologs
     5395 (PMS2)
SSDB
Motif
Pfam: MutL_C DNA_mis_repair HATPase_c_3 HATPase_c Ribo_biogen_C
Other DBs
NCBI-GeneID: 5395
NCBI-ProteinID: NP_000526
OMIM: 600259
HGNC: 9122
Ensembl: ENSG00000122512
UniProt: P54278 B4DGM0 Q7Z3Q2
Structure
Position
7:complement(5970925..6009106)
AA seq 862 aa
MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKD
YGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDV
TISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKE
YAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLI
PFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPA
KVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLI
GMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHG
PSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAP
KTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDM
SASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAA
EDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQG
QRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGP
QDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP
WNCPHGRPTMRHIANLGVISQN
NT seq 2589 nt   +upstreamnt  +downstreamnt
atggagcgagctgagagctcgagtacagaacctgctaaggccatcaaacctattgatcgg
aagtcagtccatcagatttgctctgggcaggtggtactgagtctaagcactgcggtaaag
gagttagtagaaaacagtctggatgctggtgccactaatattgatctaaagcttaaggac
tatggagtggatcttattgaagtttcagacaatggatgtggggtagaagaagaaaacttc
gaaggcttaactctgaaacatcacacatctaagattcaagagtttgccgacctaactcag
gttgaaacttttggctttcggggggaagctctgagctcactttgtgcactgagcgatgtc
accatttctacctgccacgcatcggcgaaggttggaactcgactgatgtttgatcacaat
gggaaaattatccagaaaaccccctacccccgccccagagggaccacagtcagcgtgcag
cagttattttccacactacctgtgcgccataaggaatttcaaaggaatattaagaaggag
tatgccaaaatggtccaggtcttacatgcatactgtatcatttcagcaggcatccgtgta
agttgcaccaatcagcttggacaaggaaaacgacagcctgtggtatgcacaggtggaagc
cccagcataaaggaaaatatcggctctgtgtttgggcagaagcagttgcaaagcctcatt
ccttttgttcagctgccccctagtgactccgtgtgtgaagagtacggtttgagctgttcc
gatgctctgcataatcttttttacatctcaggtttcatttcacaatgcacgcatggagtt
ggaaggagttcaacagacagacagtttttctttatcaaccggcggccttgtgacccagca
aaggtctgcagactcgtgaatgaggtctaccacatgtataatcgacaccagtatccattt
gttgttcttaacatttctgttgattcagaatgcgttgatatcaatgttactccagataaa
aggcaaattttgctacaagaggaaaagcttttgttggcagttttaaagacctctttgata
ggaatgtttgatagtgatgtcaacaagctaaatgtcagtcagcagccactgctggatgtt
gaaggtaacttaataaaaatgcatgcagcggatttggaaaagcccatggtagaaaagcag
gatcaatccccttcattaaggactggagaagaaaaaaaagacgtgtccatttccagactg
cgagaggccttttctcttcgtcacacaacagagaacaagcctcacagcccaaagactcca
gaaccaagaaggagccctctaggacagaaaaggggtatgctgtcttctagcacttcaggt
gccatctctgacaaaggcgtcctgagacctcagaaagaggcagtgagttccagtcacgga
cccagtgaccctacggacagagcggaggtggagaaggactcggggcacggcagcacttcc
gtggattctgaggggttcagcatcccagacacgggcagtcactgcagcagcgagtatgcg
gccagctccccaggggacaggggctcgcaggaacatgtggactctcaggagaaagcgcct
aaaactgacgactctttttcagatgtggactgccattcaaaccaggaagataccggatgt
aaatttcgagttttgcctcagccaactaatctcgcaaccccaaacacaaagcgttttaaa
aaagaagaaattctttccagttctgacatttgtcaaaagttagtaaatactcaggacatg
tcagcctctcaggttgatgtagctgtgaaaattaataagaaagttgtgcccctggacttt
tctatgagttctttagctaaacgaataaagcagttacatcatgaagcacagcaaagtgaa
ggggaacagaattacaggaagtttagggcaaagatttgtcctggagaaaatcaagcagcc
gaagatgaactaagaaaagagataagtaaaacgatgtttgcagaaatggaaatcattggt
cagtttaacctgggatttataataaccaaactgaatgaggatatcttcatagtggaccag
catgccacggacgagaagtataacttcgagatgctgcagcagcacaccgtgctccagggg
cagaggctcatagcacctcagactctcaacttaactgctgttaatgaagctgttctgata
gaaaatctggaaatatttagaaagaatggctttgattttgttatcgatgaaaatgctcca
gtcactgaaagggctaaactgatttccttgccaactagtaaaaactggaccttcggaccc
caggacgtcgatgaactgatcttcatgctgagcgacagccctggggtcatgtgccggcct
tcccgagtcaagcagatgtttgcctccagagcctgccggaagtcggtgatgattgggact
gctcttaacacaagcgagatgaagaaactgatcacccacatgggggagatggaccacccc
tggaactgtccccatggaaggccaaccatgagacacatcgccaacctgggtgtcatttct
cagaactga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (79)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (75)   
DNA sequence (120)   
   RefSeq(nuc) (76)   
   GenBank (22)   
   EMBL (22)   
3D Structure (8)   
   PDB (8)   
Protein domain (5)   
   Pfam (5)   
All databases (241)   

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