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DCDC2 doublecortin domain containing 2 [ Homo sapiens (human) ]

Gene ID: 51473, updated on 4-Dec-2022

Summary

Official Symbol
DCDC2provided by HGNC
Official Full Name
doublecortin domain containing 2provided by HGNC
Primary source
HGNC:HGNC:18141
See related
Ensembl:ENSG00000146038 MIM:605755; AllianceGenome:HGNC:18141
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
Also known as
NSC; RU2; RU2S; DCDC2A; DFNB66; NPHP19
Summary
This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
Expression
Biased expression in kidney (RPKM 12.9), thyroid (RPKM 5.3) and 8 other tissues See more
Orthologs
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Genomic context

See DCDC2 in Genome Data Viewer
Location:
6p22.3
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24171755..24383292, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24043591..24253315, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24171983..24383520, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene neurensin 1 Neighboring gene small nucleolar RNA SNORD46 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene kidney associated DCDC2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400121-24400856 Neighboring gene Sharpr-MPRA regulatory region 326

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 66
MedGen: C1857750 OMIM: 610212 GeneReviews: Not available
Compare labs
Isolated neonatal sclerosing cholangitis
MedGen: C4479344 OMIM: 617394 GeneReviews: Not available
Compare labs
Nephronophthisis 19
MedGen: C4015542 OMIM: 616217 GeneReviews: Nephronophthisis
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of serum uric acid in African Americans.
EBI GWAS Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog
Whole genome association scan for genetic polymorphisms influencing information processing speed.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1154

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables kinesin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular defense response TAS
Traceable Author Statement
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dendrite morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron migration NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in kinocilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in kinocilium ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
doublecortin domain-containing protein 2
Names
nephronophthisis 19

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.

Genomic

  1. NG_012829.2 RefSeqGene

    Range
    30234..216538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195610.2NP_001182539.1  doublecortin domain-containing protein 2

    See identical proteins and their annotated locations for NP_001182539.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB032980, AI858903, AL359389, AL359713, BC050704, FO393410
    Consensus CDS
    CCDS4550.1
    UniProtKB/Swiss-Prot
    Q9UHG0, Q9ULR6
    Conserved Domains (3) summary
    cd01617
    Location:1796
    DCX; Ubiquitin-like domain of DCX
    smart00537
    Location:134221
    DCX; Domain in the Doublecortin (DCX) gene product
    cl22451
    Location:299419
    ASF1_hist_chap; ASF1 like histone chaperone
  2. NM_016356.5NP_057440.2  doublecortin domain-containing protein 2

    See identical proteins and their annotated locations for NP_057440.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF181721, AI858903, AL359389, AL359713, FO393410
    Consensus CDS
    CCDS4550.1
    UniProtKB/Swiss-Prot
    Q9UHG0, Q9ULR6
    Related
    ENSP00000367715.3, ENST00000378454.8
    Conserved Domains (3) summary
    cd01617
    Location:1796
    DCX; Ubiquitin-like domain of DCX
    smart00537
    Location:134221
    DCX; Domain in the Doublecortin (DCX) gene product
    cl22451
    Location:299419
    ASF1_hist_chap; ASF1 like histone chaperone

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    24171755..24383292 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    24043591..24253315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)