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

Gene ID: 55251, updated on 5-Mar-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 methylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 29.8), skin (RPKM 21.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q13.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (64255748..64276226)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (66076524..66096786)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62887101..62907579)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62771493-62772406 Neighboring gene uncharacterized LOC105372727 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 septin 14 pseudogene 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62933584-62934084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62934085-62934585 Neighboring gene capicua transcriptional repressor pseudogene 4 Neighboring gene IQ motif and Sec7 domain 3 pseudogene 3

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
  • 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 (24) 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_2023_10

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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