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    DCDC2C doublecortin domain containing 2C [ Homo sapiens (human) ]

    Gene ID: 728597, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DCDC2Cprovided by HGNC
    Official Full Name
    doublecortin domain containing 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:32696
    See related
    Ensembl:ENSG00000214866 AllianceGenome:HGNC:32696
    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
    Summary
    Predicted to be involved in intracellular signal transduction. Located in cytoplasm and sperm flagellum. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See DCDC2C in Genome Data Viewer
    Location:
    2p25.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (3703575..3848008)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (3726147..3871300)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (3751165..3895598)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene allantoicase Neighboring gene uncharacterized LOC105373393 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 48 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3772545-3773071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3773072-3773597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3775588-3776177 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3828257-3828757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3847077-3847620 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3847621-3848162 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58341 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58378 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:3917111-3917319 Neighboring gene uncharacterized LOC105373394 Neighboring gene long intergenic non-protein coding RNA 1304

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Defining the human sperm microtubulome: an integrated genomics approach. Jumeau F, et al. Biol Reprod, 2017 Jan 1. PMID 28395323
    2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. Sim X, et al. PLoS Genet, 2011 Apr. PMID 21490949, Free PMC Article
    3. The doublecortin gene family and disorders of neuronal structure. Dijkmans TF, et al. Cent Nerv Syst Agents Med Chem, 2010 Mar. PMID 20236041
    4. The evolving doublecortin (DCX) superfamily. Reiner O, et al. BMC Genomics, 2006 Jul 26. PMID 16869982, Free PMC Article
    5. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article

    See all (9) 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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • AC019172.2

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    doublecortin domain-containing protein 2C
    Names
    doublecortin domain containing 2C pseudogene

    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_001287444.2 → NP_001274373.1  doublecortin domain-containing protein 2C isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010907, AC019172, BG202560, DW010024, DY654549, HY010234, HY194445
      Consensus CDS
      CCDS74481.1
      UniProtKB/Swiss-Prot
      A8MYV0
      Related
      ENSP00000382097.4, ENST00000399143.9
      Conserved Domains (2) summary
      cd17151
      Location:16 → 94
      DCX1_DCDC2C; Dublecortin-like domain 1 found in doublecortin domain-containing protein 2C (DCDC2C)
      cd17154
      Location:135 → 213
      DCX2_DCDC2C; Doublecortin-like domain 2 found in doublecortin domain-containing protein 2C (DCDC2C)

    2. NM_001365580.2 → NP_001352509.1  doublecortin domain-containing protein 2C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC010907, AC019172
      Conserved Domains (1) summary
      cl25424
      Location:48 → 82
      TGS; The TGS domain, named after the ThrRS, GTPase, and SpoT/RelA proteins where it occurs, is structurally similar to ubiquitin. TGS is a small domain of about 50 amino acid residues with a predominantly beta-sheet structure. There is no direct information ...

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      3703575..3848008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445725.1 → XP_047301681.1  doublecortin domain-containing protein 2C isoform X5

    2. XM_047445724.1 → XP_047301680.1  doublecortin domain-containing protein 2C isoform X3

    3. XM_006711894.5 → XP_006711957.1  doublecortin domain-containing protein 2C isoform X1

      Conserved Domains (2) summary
      cd01617
      Location:16 → 93
      DCX; Ubiquitin-like domain of DCX
      pfam03607
      Location:154 → 207
      DCX; Doublecortin

    4. XM_047445726.1 → XP_047301682.1  doublecortin domain-containing protein 2C isoform X6

    5. XM_017004836.3 → XP_016860325.1  doublecortin domain-containing protein 2C isoform X2

    6. XM_017004837.3 → XP_016860326.1  doublecortin domain-containing protein 2C isoform X4

    7. XM_047445728.1 → XP_047301684.1  doublecortin domain-containing protein 2C isoform X8

    8. XM_047445729.1 → XP_047301685.1  doublecortin domain-containing protein 2C isoform X9

    9. XM_047445727.1 → XP_047301683.1  doublecortin domain-containing protein 2C isoform X7

    RNA

    1. XR_007081579.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      3726147..3871300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343716.1 → XP_054199691.1  doublecortin domain-containing protein 2C isoform X3

    2. XM_054343718.1 → XP_054199693.1  doublecortin domain-containing protein 2C isoform X5

    3. XM_054343714.1 → XP_054199689.1  doublecortin domain-containing protein 2C isoform X1

    4. XM_054343719.1 → XP_054199694.1  doublecortin domain-containing protein 2C isoform X6

    5. XM_054343715.1 → XP_054199690.1  doublecortin domain-containing protein 2C isoform X2

    6. XM_054343717.1 → XP_054199692.1  doublecortin domain-containing protein 2C isoform X4

    7. XM_054343721.1 → XP_054199696.1  doublecortin domain-containing protein 2C isoform X9

    8. XM_054343720.1 → XP_054199695.1  doublecortin domain-containing protein 2C isoform X7

    RNA

    1. XR_008486504.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MYV0.4 GenPept UniProtKB/Swiss-Prot:A8MYV0

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