Homo sapiens (human): 5395
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
MutL_C
DNA_mis_repair
HATPase_c_3
HATPase_c
Ribo_biogen_C
Motif
Other DBs
NCBI-GeneID:
5395
NCBI-ProteinID:
NP_000526
OMIM:
600259
HGNC:
9122
Ensembl:
ENSG00000122512
Pharos:
P54278
(Tbio)
UniProt:
P54278
B4DGM0
Q7Z3Q2
Structure
PDB
LinkDB
All DBs
Position
7:complement(5970925..6009106)
Genome browser
AA seq
862 aa
AA seq
DB search
MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKD
YGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDV
TISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKE
YAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLI
PFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPA
KVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLI
GMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHG
PSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAP
KTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDM
SASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAA
EDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQG
QRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGP
QDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP
WNCPHGRPTMRHIANLGVISQN
NT seq
2589 nt
NT seq
+upstream
nt +downstream
nt
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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