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    PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 55251, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PCMTD2provided by HGNC
    Official Full Name
    protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:15882
    See related
    Ensembl:ENSG00000203880 MIM:620077; AllianceGenome:HGNC:15882
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C20orf36
    Summary
    Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be involved in protein modification process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 29.8), skin (RPKM 21.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCMTD2 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (64255748..64276226)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (66076524..66096786)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62887101..62907579)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62771493-62772406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62782269-62782948 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:62782949-62784148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62790052-62790772 Neighboring gene VISTA enhancer hs2609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62809687-62810387 Neighboring gene myelin transcription factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62819145-62820082 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62820083-62821020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62842693-62843192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62854891-62855746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62857693-62858192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62875914-62876414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62901205-62901706 Neighboring gene uncharacterized LOC124904957 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62917508-62917700 Neighboring gene IL9R pseudogene 5 Neighboring gene septin 14 pseudogene 20 Neighboring gene capicua transcriptional repressor pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterization of Cullin-box sequences that direct recruitment of Cul2-Rbx1 and Cul5-Rbx2 modules to Elongin BC-based ubiquitin ligases. Mahrour N, et al. J Biol Chem, 2008 Mar 21. PMID 18187417
    2. Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity. Usenovic M, et al. Hum Mol Genet, 2012 Sep 1. PMID 22645275, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851
    4. SETD1A Methyltransferase Is Physically and Functionally Linked to the DNA Damage Repair Protein RAD18. Alsulami M, et al. Mol Cell Proteomics, 2019 Jul. PMID 31076518, Free PMC Article
    5. Interactomic analysis reveals a homeostatic role for the HIV restriction factor TRIM5α in mitophagy. Saha B, et al. Cell Rep, 2022 May 10. PMID 35545034, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MYT1

    Homology

    Clone Names

    • FLJ10883, KIAA0835, KIAA1050

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein-L-isoaspartate O-methyltransferase domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001104925.2 → NP_001098395.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001098395.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC033665, BC040945, CA443672
      Consensus CDS
      CCDS46631.1
      UniProtKB/Swiss-Prot
      Q9NV79
      Related
      ENSP00000358773.3, ENST00000369758.8
      Conserved Domains (1) summary
      pfam01135
      Location:11 → 193
      PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

    2. NM_018257.3 → NP_060727.2  protein-L-isoaspartate O-methyltransferase domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_060727.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK001745, BC033665, CA443672, DB224815
      Consensus CDS
      CCDS13559.1
      UniProtKB/Swiss-Prot
      E1P5H3, Q8IW60, Q9H4K2, Q9NV79
      Related
      ENSP00000307854.6, ENST00000308824.11
      Conserved Domains (1) summary
      pfam01135
      Location:11 → 219
      PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      64255748..64276226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187624.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      164339..183433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      66076524..66096786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NV79.2 GenPept UniProtKB/Swiss-Prot:Q9NV79

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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