Aliases for PMS2CL Gene

Aliases for PMS2CL Gene

  • PMS2 C-Terminal Like Pseudogene 2 3 5
  • PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 13 2 3
  • PMS2P13 3 4
  • Postmeiotic Segregation Increased 2 Pseudogene 13 3
  • PMS2-C Terminal-Like Protein 4
  • Protein PMS2CL 4

External Ids for PMS2CL Gene

Previous GeneCards Identifiers for PMS2CL Gene

  • GC07P006538
  • GC07P006539
  • GC07P006741
  • GC07P006646
  • GC07P006750
  • GC07P006754
  • GC07P006764
  • GC07P006772

Summaries for PMS2CL Gene

GeneCards Summary for PMS2CL Gene

PMS2CL (PMS2 C-Terminal Like Pseudogene) is a Pseudogene.

Additional gene information for PMS2CL 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 PMS2CL Gene

Genomics for PMS2CL Gene

GeneHancer (GH) Regulatory Elements for PMS2CL Gene

Promoters and enhancers for PMS2CL 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 PMS2CL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMS2CL gene promoter:
  • ATF-2
  • c-Jun
  • E4BP4
  • GR
  • GR-alpha
  • GR-beta
  • Hlf
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for PMS2CL Gene

Genomic Locations for PMS2CL Gene
chr7:6,710,128-6,753,862
(GRCh38/hg38)
Size:
43,735 bases
Orientation:
Plus strand
chr7:6,749,759-6,793,493
(GRCh37/hg19)
Size:
43,735 bases
Orientation:
Plus strand

Genomic View for PMS2CL Gene

Genes around PMS2CL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS2CL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS2CL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS2CL Gene

Proteins for PMS2CL Gene

  • Protein details for PMS2CL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68D20-PMS2L_HUMAN
    Recommended name:
    Protein PMS2CL
    Protein Accession:
    Q68D20
    Secondary Accessions:
    • B4DK88
    • Q764P1

    Protein attributes for PMS2CL Gene

    Size:
    193 amino acids
    Molecular mass:
    20909 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC81643.1; Type=Miscellaneous discrepancy; Note=Wrong choice of transcript.; Evidence={ECO:0000305};

neXtProt entry for PMS2CL Gene

Post-translational modifications for PMS2CL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PMS2CL Gene

Domains & Families for PMS2CL Gene

Protein Domains for PMS2CL Gene

ProtoNet:

Suggested Antigen Peptide Sequences for PMS2CL Gene

GenScript: Design optimal peptide antigens:
  • PMS2-C terminal-like protein (PMS2L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q68D20

UniProtKB/Swiss-Prot:

PMS2L_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 PMS2CL: view

No data available for Gene Families for PMS2CL Gene

Function for PMS2CL Gene

Phenotypes From GWAS Catalog for PMS2CL Gene

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMS2CL Gene

Localization for PMS2CL 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 PMS2CL Gene

Pathways & Interactions for PMS2CL Gene

PathCards logo

SuperPathways for PMS2CL Gene

No Data Available

Interacting Proteins for PMS2CL Gene

Selected Interacting proteins: Q68D20-PMS2L_HUMAN for PMS2CL Gene via IID

Symbol External ID(s) Details
BRCA1
MLH1
;

Gene Ontology (GO) - Biological Process for PMS2CL Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PMS2CL Gene

Drugs & Compounds for PMS2CL Gene

No Compound Related Data Available

Transcripts for PMS2CL Gene

mRNA/cDNA for PMS2CL Gene

4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMS2CL Gene

No ASD Table

Relevant External Links for PMS2CL Gene

GeneLoc Exon Structure for
PMS2CL

Expression for PMS2CL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PMS2CL Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PMS2CL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMS2CL

SOURCE GeneReport for Unigene cluster for PMS2CL Gene:

Hs.715590
genes like me logo Genes that share expression patterns with PMS2CL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMS2CL Gene

Orthologs for PMS2CL Gene

Evolution for PMS2CL Gene

ENSEMBL:
Gene Tree for PMS2CL (if available)
TreeFam:
Gene Tree for PMS2CL (if available)

No data available for Orthologs for PMS2CL Gene

Paralogs for PMS2CL Gene

(1) SIMAP similar genes for PMS2CL Gene using alignment to 1 proteins:

  • PMS2L_HUMAN
genes like me logo Genes that share paralogs with PMS2CL: view

No data available for Paralogs for PMS2CL Gene

Variants for PMS2CL Gene

Structural Variations from Database of Genomic Variants (DGV) for PMS2CL Gene

Variant ID Type Subtype PubMed ID
dgv3486n106 CNV deletion 24896259
esv2665371 CNV deletion 23128226
esv2752174 CNV gain 17911159
esv2759504 CNV loss 17122850
esv33385 CNV gain 17666407
esv3571605 CNV loss 25503493
esv3612043 CNV gain 21293372
nsv1015646 CNV loss 25217958
nsv1141527 CNV duplication 24896259
nsv7392 OTHER inversion 18451855
nsv8040 CNV gain 18304495
nsv950806 CNV deletion 24416366
nsv966754 CNV duplication 23825009

Additional Variant Information for PMS2CL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS2CL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) and Variation tolerance for PMS2CL Gene

Disorders for PMS2CL Gene

Additional Disease Information for PMS2CL

No disorders were found for PMS2CL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PMS2CL Gene

Publications for PMS2CL Gene

  1. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. (PMID: 15256438) Nakagawa H … de la Chapelle A (Cancer research 2004) 2 3 4 54
  2. Extensive gene conversion at the PMS2 DNA mismatch repair locus. (PMID: 17253626) Hayward BE … Bonthron DT (Human mutation 2007) 2 3 54
  3. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X … REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology Donor Study-II Component International (PloS one 2013) 3 54
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 54

Products for PMS2CL Gene

Sources for PMS2CL Gene