Aliases for PMS2P2 Gene

Aliases for PMS2P2 Gene

  • PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 2 2 3 5
  • Postmeiotic Segregation Increased 2-Like 2 Pseudogene 2 3
  • Postmeiotic Segregation Increased 2 Pseudogene 2 2 3
  • PMS2L2 3 4
  • PMS4 3 4
  • Putative Postmeiotic Segregation Increased 2-Like Protein 2 4
  • Putative Postmeiotic Segregation Increased 2 Pseudogene 2 4
  • Postmeiotic Segregation Increased 2-Like Protein 14 4
  • Postmeiotic Segregation Increased Protein 4 4
  • Postmeiotic Segregation Increased 2-Like 2 2
  • PMS2L14 4

External Ids for PMS2P2 Gene

Previous HGNC Symbols for PMS2P2 Gene

  • PMS2L2

Previous GeneCards Identifiers for PMS2P2 Gene

  • GC07M074978
  • GC07M074880

Summaries for PMS2P2 Gene

GeneCards Summary for PMS2P2 Gene

PMS2P2 (PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 2) is a Pseudogene. Diseases associated with PMS2P2 include Osteoarthritis.

Additional gene information for PMS2P2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMS2P2 Gene

Genomics for PMS2P2 Gene

GeneHancer (GH) Regulatory Elements for PMS2P2 Gene

Promoters and enhancers for PMS2P2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMS2P2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PMS2P2 Gene

Genomic Locations for PMS2P2 Gene
chr7:75,343,937-75,359,550
(GRCh38/hg38)
Size:
15,614 bases
Orientation:
Minus strand
chr7:74,880,905-74,988,262
(GRCh37/hg19)
Size:
107,358 bases
Orientation:
Minus strand

Genomic View for PMS2P2 Gene

Genes around PMS2P2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS2P2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS2P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS2P2 Gene

Proteins for PMS2P2 Gene

  • Protein details for PMS2P2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95744-PM2P2_HUMAN
    Recommended name:
    Putative postmeiotic segregation increased 2-like protein 2
    Protein Accession:
    O95744

    Protein attributes for PMS2P2 Gene

    Size:
    297 amino acids
    Molecular mass:
    32669 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Encoded by one of the numerous copies of postmeiotic segregation increased 2-like genes scattered in the q11-q22 region of the chromosome 7.

neXtProt entry for PMS2P2 Gene

Post-translational modifications for PMS2P2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PMS2P2 Gene

Domains & Families for PMS2P2 Gene

Protein Domains for PMS2P2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PMS2P2 Gene

GenScript: Design optimal peptide antigens:
  • Putative postmeiotic segregation increased 2 pseudogene 2 (PM2P2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95744

UniProtKB/Swiss-Prot:

PM2P2_HUMAN :
  • Belongs to the DNA mismatch repair MutL/HexB family.
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with PMS2P2: view

No data available for Gene Families for PMS2P2 Gene

Function for PMS2P2 Gene

Phenotypes From GWAS Catalog for PMS2P2 Gene

genes like me logo Genes that share phenotypes with PMS2P2: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMS2P2 Gene

Localization for PMS2P2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PMS2P2 Gene

Pathways & Interactions for PMS2P2 Gene

PathCards logo

SuperPathways for PMS2P2 Gene

No Data Available

Interacting Proteins for PMS2P2 Gene

Selected Interacting proteins: O95744-PM2P2_HUMAN for PMS2P2 Gene via IID

Gene Ontology (GO) - Biological Process for PMS2P2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PMS2P2 Gene

Drugs & Compounds for PMS2P2 Gene

No Compound Related Data Available

Transcripts for PMS2P2 Gene

mRNA/cDNA for PMS2P2 Gene

(3) Additional mRNA sequences :
(61) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMS2P2 Gene

No ASD Table

Relevant External Links for PMS2P2 Gene

GeneLoc Exon Structure for
PMS2P2
ECgene alternative splicing isoforms for
PMS2P2

Expression for PMS2P2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMS2P2 Gene

Protein differential expression in normal tissues from HIPED for PMS2P2 Gene

This gene is overexpressed in Cervix (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PMS2P2 Gene



Protein tissue co-expression partners for PMS2P2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PMS2P2 Gene:

PMS2P2

mRNA Expression by UniProt/SwissProt for PMS2P2 Gene:

O95744-PM2P2_HUMAN
Tissue specificity: Highly expressed in kidney, spleen, adrenal gland, esophagus, duodenum, colon, bladder, ovary, cerebrum and cerebellum and to a lower extent in lung, liver, stomach, uterus and pancreas. Not expressed in heart.
genes like me logo Genes that share expression patterns with PMS2P2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMS2P2 Gene

Orthologs for PMS2P2 Gene

Evolution for PMS2P2 Gene

ENSEMBL:
Gene Tree for PMS2P2 (if available)
TreeFam:
Gene Tree for PMS2P2 (if available)

No data available for Orthologs for PMS2P2 Gene

Paralogs for PMS2P2 Gene

(14) SIMAP similar genes for PMS2P2 Gene using alignment to 1 proteins:

  • PM2P2_HUMAN
genes like me logo Genes that share paralogs with PMS2P2: view

No data available for Paralogs for PMS2P2 Gene

Variants for PMS2P2 Gene

Sequence variations from dbSNP and Humsavar for PMS2P2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs112813791 -- 75,346,728(-) A/C intron_variant
rs113221595 -- 75,357,596(-) C/A intron_variant
rs1153133 -- 75,354,526(-) T/C intron_variant
rs1156237544 -- 75,358,904(-) A/C intron_variant
rs1156333400 -- 75,357,061(-) ATTATTATTATTATTATTATTATTATTATT/ATTATT/ATTATTATTATTATT/ATTATTATTATTATTATT/ATTATTATTATTATTATTATT/ATTATTATTATTATTATTATTATT/ATTATTATTATTATTATTATTATTATT/ATTATTATTATTATTATTATTATTATTATTATT/ATTATTATTATTATTATTATTATTATTATTATTATTATT/ATTATTATTATTATTATTATTATTATTATTATTATTATTATT/ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PMS2P2 Gene

Variant ID Type Subtype PubMed ID
esv3367563 CNV duplication 20981092
esv3381766 CNV duplication 20981092
nsv1132069 CNV deletion 24896259
nsv528969 CNV gain 19592680
nsv8155 CNV loss 18304495
nsv831035 CNV loss 17160897
nsv967339 CNV duplication 23825009
nsv967341 CNV duplication 23825009
nsv971040 CNV duplication 23825009
nsv981534 CNV duplication 23825009

Additional Variant Information for PMS2P2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS2P2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PMS2P2 Gene

Disorders for PMS2P2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PMS2P2 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
osteoarthritis
  • kashin-beck disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PMS2P2

genes like me logo Genes that share disorders with PMS2P2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMS2P2 Gene

Publications for PMS2P2 Gene

  1. The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. (PMID: 10101297) Kondo E … Fukushige S (Journal of biochemistry 1999) 3 4 56
  2. Genomic organization of the human PMS2 gene family. (PMID: 8586419) Nicolaides NC … Kinzler KW (Genomics 1995) 2 3 56
  3. LncRNA PMS2L2 protects ATDC5 chondrocytes against lipopolysaccharide-induced inflammatory injury by sponging miR-203. (PMID: 30550887) Li X … Zhao Q (Life sciences 2019) 3 56
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 56
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 56

Products for PMS2P2 Gene

Sources for PMS2P2 Gene