The Chromosome 7 Annotation Project
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TCAG Gene Summary: PMS2 [GA0237]

Gene / Transcript Structure
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General information
Class Known_Gene
TCAG Gene ID GA0237 [Old ID: HSC7000237]
Gene Symbol PMS2 [HUGO ID: PMS2]
Gene Name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Synonyms HNPCC4, PMS2CL, PMSL2
Summary Summary: The PMS2 gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. In addition, PMS2 is located approximately 200 base pairs from the JTV1 gene; the two genes are arranged in a head-to-head fashion and are transcribed from opposite strands. The PMS2 gene product is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. PMS2 mutations are associated with hereditary nonpolyposis colorectal cancer.
Omim Postmeiotic segregation increased, S. cerevisiae, 2, homolog of | 600259
Phenotype Colorectal cancer, hereditary nonpolyposis, type 4 [114500]
Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots [608623]
Turcot syndrome with glioblastoma [276300]
Gene Ontology ●Biological process
   Mismatch repair [GO:0006298]
   Negative regulation of cell cycle [GO:0045786]
●Cellular component
   Nucleus [GO:0005634]
●Molecular function
   ATP binding [GO:0005524]
   DNA binding [GO:0003677]
Transcript PMS2 | T00210 | NM_000535.2
PMS2_transcript_variant_1 | T02322 | BX537558.1
External links
LocusLink 5395
RefSeq NM_000535 | NP_000526
GenBank AC005995 [genome]
U13696 [genome]
AB116525 [mRNA]
BC008400 [mRNA]
BC031832 [mRNA]
U14658 [mRNA]
PubMed 15077197, 12684669, 12601175, 12477932, 11948175, 11897781, 11809883, 11793469, 10871409, 10072354, 8666379, 8586419, 8072530
ABI Gene Expression "Assays-on-Demand™" Hs00241053_m1
Affymetrix GeneChip U133A
U95A|38556_at
U95A|526_s_at
Transcript Sequence(s)
>T00210 Gene_ID:GA0237,Symbol:PMS2,Class:Known_Gene,BaseSeq:NM_000535.2
CGAGGCGGATCGGGTGTTGCATCCATGGAGCGAGCTGAGAGCTCGAGTACAGAACCTGCTAAGGCCATCAAACCTATTGA
TCGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAAAGGAGTTAGTAGAAAACA
GTCTGGATGCTGGTGCCACTAATATTGATCTAAAGCTTAAGGACTATGGAGTGGATCTTATTGAAGTTTCAGACAATGGA
TGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAACTCTGAAACATCACACATCTAAGATTCAAGAGTTTGCCGACCTAAC
TCAGGTTGAAACTTTTGGCTTTCGGGGGGAAGCTCTGAGCTCACTTTGTGCACTGAGCGATGTCACCATTTCTACCTGCC
ACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAATGGGAAAATTATCCAGAAAACCCCCTACCCCCGCCCC
AGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAA
GGAGTATGCCAAAATGGTCCAGGTCTTACATGCATACTGTATCATTTCAGCAGGCATCCGTGTAAGTTGCACCAATCAGC
TTGGACAAGGAAAACGACAGCCTGTGGTATGCACAGGTGGAAGCCCCAGCATAAAGGAAAATATCGGCTCTGTGTTTGGG
CAGAAGCAGTTGCAAAGCCTCATTCCTTTTGTTCAGCTGCCCCCTAGTGACTCCGTGTGTGAAGAGTACGGTTTGAGCTG
TTCGGATGCTCTGCATAATCTTTTTTACATCTCAGGTTTCATTTCACAATGCACGCATGGAGTTGGAAGGAGTTCAACAG
ACAGACAGTTTTTCTTTATCAACCGGCGGCCTTGTGACCCAGCAAAGGTCTGCAGACTCGTGAATGAGGTCTACCACATG
TATAATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTTGATTCAGAATGCGTTGATATCAATGTTACTCCAGA
TAAAAGGCAAATTTTGCTACAAGAGGAAAAGCTTTTGTTGGCAGTTTTAAAGACCTCTTTGATAGGAATGTTTGATAGTG
ATGTCAACAAGCTAAATGTCAGTCAGCAGCCACTGCTGGATGTTGAAGGTAACTTAATAAAAATGCATGCAGCGGATTTG
GAAAAGCCCATGGTAGAAAAGCAGGATCAATCCCCTTCATTAAGGACTGGAGAAGAAAAAAAAGACGTGTCCATTTCCAG
ACTGCGAGAGGCCTTTTCTCTTCGTCACACAACAGAGAACAAGCCTCACAGCCCAAAGACTCCAGAACCAAGAAGGAGCC
CTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAA
GAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCAC
TTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGG
ACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTGAAACTGACGACTCTTTTTCAGATGTGGACTGCCAT
TCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTT
TAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTG
ATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTA
CATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGC
AGCCGAAGATGAACTAAGAAAAGAGATAAGTAAAACGATGTTTGCAGAAATGGAAATCATTGGTCAGTTTAACCTGGGAT
TTATAATAACCAAACTGAATGAGGATATCTTCATAGTGGACCAGCATGCCACGGACGAGAAGTATAACTTCGAGATGCTG
CAGCAGCACACCGTGCTCCAGGGGCAGAGGCTCATAGCACCTCAGACTCTCAACTTAACTGCTGTTAATGAAGCTGTTCT
GATAGAAAATCTGGAAATATTTAGAAAGAATGGCTTTGATTTTGTTATCGATGAAAATGCTCCAGTCACTGAAAGGGCTA
AACTGATTTCCTTGCCAACTAGTAAAAACTGGACCTTCGGACCCCAGGACGTCGATGAACTGATCTTCATGCTGAGCGAC
AGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTGATGATTGG
GACTGCTCTTAACACAAGCGAGATGAAGAAACTGATCACCCACATGGGGGAGATGGACCACCCCTGGAACTGTCCCCATG
GAAGGCCAACCATGAGACACATCGCCAACCTGGGTGTCATTTCTCAGAACTGACCGTAGTCACTGTATGGAATAATTGGT
TTTATCGCAGATTTTTATGTTTTGAAAGACAGAGTCTTCACTAACCTTTTTTGTTTTAAAATGAAACCTGCTACTTAAAA
AAAATACACATCACACCCATTTAAAAGTGATCTTGAGAACCTTTTCAAACC

>T02322 Gene_ID:GA0237,Symbol:PMS2_transcript_variant_1,Class:Known_Gene,BaseSeq:BX537558.1
GGGTTGCATCCATGGAGCGAGCTGAGAGCTCGAGGTGAGCGGGGCTCGCAGTCTTCCGGTGTCCCCTCTCGCGCGCCCTC
TTTGAGACCCACGGCATTCCAACCTTCCTGGAAATGGGGGGAACATGGCCGAGGCGCGTGGCGAGGCAGCCCCCTGGAGG
CCCCGGAGTGGCGACCTCAGTGTTGCAGCGATCTCGTGCCCCTTGGGTGCGCCTTGAGGCCGAGTACAGAACCTGCTAAG
GCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAAA
GGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTGATCTAAAGCTTAAGGACTATGGAGTGGATCTTATTG
AAGTTTCAGACAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAACTCTGAAACATCACACATCTAAGATTCAA
GAGTTTGCCGACCTAACTCAGGTTGAAACTTTTGGCTTTCGGGGGGAAGCTCTGAGCTCACTTTGTGCACTGAGGTGATA
CAATATTTTTATCCACTCACTTGACCCCTTAGAGAAACCTCTCTGAAAATTAATTGGAATCATTATTATTTTCAGTTTTC
TATCTCAACATCTCAACTTCTAGCTTCTGAATTCTGTTTTGTCTCGCTGCCAATCTAAGTCATAGTACTTCTGAAATGTG
AGCAATAAATGAATGAAATGAAGCAAATAGTATTGTTAAAAAAATGGTTACCCTTATTAAAACAGTAATTCTCAATTTTA
ACCTAACATGTAGATAACAAATGATAGTTACCATTGGTTTTCATTATCAATTTTTAGGGAAACATTTCACCAAAGCACTA
TTTAATTATAGCACAGATATGAAATTTTTATAAATAATTATATATATATATATATCTTTTTTCTTTTTTAGACAGAGTCT
CTCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTCACTGCAATCTCTGCCTTCCAGGTTCAAGTGATTCTC
GTGCCTGAGCCTCCTGAGGAGCTGGTACTATAGGCATGCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACA
GGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGACCGCCTCGGCCTCCCGAAGTGCTGG
GATTACAGGTGTGAGCCATCATGCCTGGCTGAGTTAAGGATCTTGCAACAGAGAGATTATCCTGGATTGTCTGGGTGGGC
CCAGTCCATTGGGTGAGTCCTTCAAAGGTGGAGACCTTTCCCTGCTGGCCAGAGAGAGGCTGCCTTGCTGGTTTTGGAGA
TGGAAGGAGGTACCACTAGTCAAGGATTGCAAGCAGTCTCTAGAACAGGGATTCCAACACTCCGGACACAGACCAGTAGT
GGTCCATGGCCTATTAGGAAGTGGGGTGCACAGCAGGTTAGGGGCCGGCAAGCCAGCGAAGCTTCATCTGTATTTATAGC
CACTCCCCGTCGCTGGCGTTACCACCCGAGCTCCGCCTCCTGTCACATCAGCGGTGGGCATTAGATTCTCATAGCAGCAC
GAGCCCTATTGTGAACTGCACACACGAGGGATGTAGGTTGCACGCTCCTTATGAGAATCTGATGCCTGATGATCTGTCAC
TGTCTCCCGTCACCCCCAGATGGGGCTGTCTAGTTGCAGGAAAACAAGCTCAGGGCTCCCACTGAGTCTCTGTGATGGTG
AGTTGTAGAATTATTTAATTATATGTTACAATGTAATAATAGTAGAAATAAAGTGCACAATAAATGCAATGCACTTGAAT
CGTCCTGAAACCATCCCTCCCCGACCCCAATCCATGGAAAAATTGTGTTCCGCGAAACCGGTCTCTGGTGCCAAAAAGGT
TGGGGACCGCTTCTGGAAAAGCTGGAAAAGGCAAGAAAACGCATTCTCTCCCTCAGCCTCTGGAAGGAACCAGCACTGTG
GGACTAATTTACATACTGTAGGGTAATAAATTTGTGTTGCTTCGAACCACTAAAAAAAAA

Note: Some data originated from NCBI's LocusLink.