KEGG   Homo sapiens (human): 5395Help
Entry
5395              CDS       T01001                                 

Gene name
PMS2, HNPCC4, MLH4, PMS2CL, PMSL2
Definition
(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
Disease
H00876  Mismatch repair deficiency
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MutL_C DNA_mis_repair HATPase_c_3 HATPase_c MORN_2
Motif
Other DBs
NCBI-GeneID: 5395
NCBI-ProteinID: NP_000526
OMIM: 600259
HGNC: 9122
Ensembl: ENSG00000122512
Vega: OTTHUMG00000023135
Pharos: P54278(Tbio)
UniProt: P54278 Q7Z3Q2 B4DGM0
Structure
PDB: 

Position
7p22.1
AA seq 862 aa AA seqDB search
MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKD
YGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDV
TISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKE
YAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLI
PFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPA
KVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLI
GMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHG
PSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAP
KTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDM
SASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAA
EDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQG
QRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGP
QDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP
WNCPHGRPTMRHIANLGVISQN
NT seq 2589 nt NT seq  +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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