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

Gene ID: 728597, updated on 5-Mar-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (3703575..3848008)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (3726147..3871300)
105.20220307 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: 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. 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)

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

  • 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_2023_10

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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