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

Gene ID: 84332, updated on 28-Oct-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
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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

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