PMS2P1 (PMS1 homolog 2, mismatch repair system component pseudogene 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5379
Gene name Gene Name - the full gene name approved by the HGNC.
PMS1 homolog 2, mismatch repair system component pseudogene 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PMS2P1
Synonyms (NCBI Gene) Gene synonyms aliases
PMS2L1, PMS2L13, PMS2L6, PMS2L7, PMS2L8, PMS3, PMS8, PMSR1, PMSR2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0006298 Process Mismatch repair IBA 21873635
GO:0016301 Function Kinase activity IEA
GO:0016310 Process Phosphorylation IEA
GO:0016446 Process Somatic hypermutation of immunoglobulin genes IBA 21873635
GO:0016887 Function ATPase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605038 9123 ENSG00000291178
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID A4D2B8
Protein name Putative postmeiotic segregation increased 2-like protein 1 (PMS2-related protein 2) (Postmeiotic segregation increased 2-like protein 13) (Postmeiotic segregation increased 2-like protein 6) (Postmeiotic segregation increased 2-like protein 8) (Postmeiot
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13589 HATPase_c_3 233 → 358 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, spleen, adrenal gland, ovary and cerebellum and to a lower extent in liver, esophagus, stomach, duodenum, colon, bladder, uterus, lung, pancreas and cerebrum. Not expressed in heart. {ECO:0000269|PubMed:1010
Sequence 
MVTMCGGHRPENFLHQVLTEFGEELAGEGKSEVGGGAPRSYLQVASAECWAAAPAVHVGE
PVHAGGLHTERGADPVIGLYLVHRGGACQTPTVGNRQTPTLGIHARPRRRATTSLLTLLL
AFGKNAVRCALIGPGSLTSRTRPLTEPLGEKERREVFFPPRPERVEHNVESSRWEPRRRG
ACGSRGGNFPSPRGGSGVASLERAESSSTEPAKAIKPIDRKSVHQICSGPVVPSLSTAVK
ELVENSLDAGATNIDLKLKDYGVDLIEVSGNGCGVEEENFEGLTLKHHTSKIQEFADLPQ
VETFGFRGEALSSLCALSDVTISTCHVSAKVGTRLVFDHYGKIIQKTPYPHPRGMTVSVK
QLFSTLPVHHKEFQRNIKKKRACFPFAFCRDCQFPEASPAMLPVQPAELTPRSTPPHPCS
LEDNVITVFSSVKNGPGSSR
Sequence length 440
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)		 29777097
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Hereditary Nonpolyposis Associate 36674914
Neoplastic Syndromes Hereditary Associate 36674914