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    DYDC2 DPY30 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 84332, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DYDC2provided by HGNC
    Official Full Name
    DPY30 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:23468
    See related
    Ensembl:ENSG00000133665 AllianceGenome:HGNC:23468
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
    Expression
    Biased expression in testis (RPKM 6.0), lung (RPKM 1.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See DYDC2 in Genome Data Viewer
    Location:
    10q23.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80344745..80368073)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81213847..81237175)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82104501..82127829)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:82032694-82033893 Neighboring gene Sharpr-MPRA regulatory region 13640 Neighboring gene methionine adenosyltransferase 1A Neighboring gene zinc finger protein 519 pseudogene 1 Neighboring gene MPRA-validated peak1026 silencer Neighboring gene DPY30 domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82123032-82123216 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82163430-82163602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82168661-82169254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82170101-82170600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:82177040-82177582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3654 Neighboring gene peroxiredoxin like 2A Neighboring gene Sharpr-MPRA regulatory region 12974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82214375-82214892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3659 Neighboring gene Sharpr-MPRA regulatory region 907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82224527-82225098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82225099-82225670 Neighboring gene Sharpr-MPRA regulatory region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3660 Neighboring gene tetraspanin 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2547 Neighboring gene Sharpr-MPRA regulatory region 2609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82257110-82258073 Neighboring gene Sharpr-MPRA regulatory region 10623

    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. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Kuhl A, et al. Eur J Hum Genet, 2008 Mar. PMID 18197198
    2. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • MGC16186

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Set1C/COMPASS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DPY30 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_001270041.2 → NP_001256970.1  DPY30 domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001256970.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      BC018606, DA590784
      Consensus CDS
      CCDS7367.1
      UniProtKB/Swiss-Prot
      D3DWD6, Q5QP07, Q5QP11, Q96IM9
      Related
      ENSP00000483479.1, ENST00000616870.4
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 41
      Dpy-30; Dpy-30 motif

    2. NM_001270042.2 → NP_001256971.1  DPY30 domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001256971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' UTR splicing structure, and initiates translation at an alternate start codon, but maintains the reading frame, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      BC018606, BQ229460
      Consensus CDS
      CCDS58088.1
      UniProtKB/TrEMBL
      A0A0A0MRQ7
      Related
      ENSP00000361272.1, ENST00000372198.5
      Conserved Domains (1) summary
      pfam05186
      Location:15 → 55
      Dpy-30; Dpy-30 motif

    3. NM_032372.6 → NP_115748.1  DPY30 domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_115748.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK093378, BC018606, DA590784
      Consensus CDS
      CCDS7367.1
      UniProtKB/Swiss-Prot
      D3DWD6, Q5QP07, Q5QP11, Q96IM9
      Related
      ENSP00000256039.2, ENST00000256039.3
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 41
      Dpy-30; Dpy-30 motif

    RNA

    1. NR_070308.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC018606

    2. NR_070309.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC007374, BC018606

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      80344745..80368073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540270.3 → XP_011538572.1  DPY30 domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      X1WI30
      Related
      ENSP00000401333.1, ENST00000411538.5
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 41
      Dpy-30; Dpy-30 motif

    2. XM_011540267.2 → XP_011538569.1  DPY30 domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011538569.1

      UniProtKB/Swiss-Prot
      D3DWD6, Q5QP07, Q5QP11, Q96IM9
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 41
      Dpy-30; Dpy-30 motif

    3. XM_011540268.1 → XP_011538570.1  DPY30 domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011538570.1

      UniProtKB/Swiss-Prot
      D3DWD6, Q5QP07, Q5QP11, Q96IM9
      Related
      ENSP00000361271.1, ENST00000372197.5
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 41
      Dpy-30; Dpy-30 motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      81213847..81237175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366932.1 → XP_054222907.1  DPY30 domain-containing protein 2 isoform X2

    2. XM_054366930.1 → XP_054222905.1  DPY30 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DWD6, Q5QP07, Q5QP11, Q96IM9

    3. XM_054366931.1 → XP_054222906.1  DPY30 domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DWD6, Q5QP07, Q5QP11, Q96IM9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IM9.1 GenPept UniProtKB/Swiss-Prot:Q96IM9

    Gene LinkOut

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

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