Harmonizome 3.0

defensin, alpha 1 and alpha 3, variable copy number locus

refsum disease, adult, with increased pipecolicacidemia

postmeiotic segregation increased 2-like protein 5

increased sodium tolerance 1 homolog (yeast)

This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

postmeiotic segregation increased 2 pseudogene 8

postmeiotic segregation increased 2 pseudogene 9

postmeiotic segregation increased 2 pseudogene 2

Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Mar 2025]

postmeiotic segregation increased 2 pseudogene 3

Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair and regulation of DNA-templated transcription. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Mar 2025]

postmeiotic segregation increased 2 pseudogene 4

postmeiotic segregation increased 2 pseudogene 5

Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Mar 2025]

postmeiotic segregation increased 2 pseudogene 6

Predicted to enable ATP hydrolysis activity and ATP-dependent DNA damage sensor activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Mar 2025]

postmeiotic segregation increased 2 pseudogene 7

PMS1 postmeiotic segregation increased 1 (S. cerevisiae)

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]

postmeiotic segregation increased 2 pseudogene 12

postmeiotic segregation increased 2 pseudogene 1

Predicted to enable ATP hydrolysis activity; ATP-dependent DNA damage sensor activity; and kinase activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Mar 2025]

postmeiotic segregation increased 2 pseudogene

postmeiotic segregation increased 2 pseudogene 10