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

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: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (24171755..24383292, complement)
RS_2023_10	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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.
Title: Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Title: Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Integration of GWAS and brain transcriptomic analyses in a multiethnic sample of 35,245 older adults identifies DCDC2 gene as predictor of episodic memory maintenance.
Title: Integration of GWAS and brain transcriptomic analyses in a multiethnic sample of 35,245 older adults identifies DCDC2 gene as predictor of episodic memory maintenance.
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Title: Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children.
Title: Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children.
Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
Title: Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant.
Title: White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant.
Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
Title: Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
Title: Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.
Title: Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.

Submit: New GeneRIF Correction See all GeneRIFs (58)

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

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-Related Ciliopathies	Compare labs

EBI GWAS Catalog

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

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

G60472 (e-PCR)
- UniSTS:137728

D11S2921 (e-PCR)
- UniSTS:152074

WI-11494 (e-PCR)
- UniSTS:27402

D6S276 (e-PCR), detects polymorphism
- UniSTS:64271

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D6S276 (e-PCR), detects polymorphism
- UniSTS:256855

G67618 (e-PCR)
- UniSTS:224106

D1S1423 (e-PCR)
- UniSTS:149619

PMC166143P13 (e-PCR)
- UniSTS:271563

SHGC-106573 (e-PCR)
- UniSTS:169932

STS-AA004717 (e-PCR)
- UniSTS:66524

D6S276 (e-PCR), detects polymorphism
- UniSTS:84457

STS-AA026398 (e-PCR)
- UniSTS:71924

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
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
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
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
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
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
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
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
located_in mitotic spindle	IDA Inferred from Direct Assay more info

General protein information

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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

NG_012829.2 RefSeqGene

Range

30234..216538

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195610.2 → NP_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

Q5VTR8, Q5VTR9, Q86W35, Q9UFD1, Q9UHG0, Q9UHG1, Q9ULR6

Conserved Domains (3) summary

cd01617
Location:17 → 96

DCX; Ubiquitin-like domain of DCX

smart00537
Location:134 → 221

DCX; Domain in the Doublecortin (DCX) gene product

cl22451
Location:299 → 419

ASF1_hist_chap; ASF1 like histone chaperone
NM_016356.5 → NP_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

Q5VTR8, Q5VTR9, Q86W35, Q9UFD1, Q9UHG0, Q9UHG1, Q9ULR6

Related

ENSP00000367715.3, ENST00000378454.8

Conserved Domains (3) summary

cd01617
Location:17 → 96

DCX; Ubiquitin-like domain of DCX

smart00537
Location:134 → 221

DCX; Domain in the Doublecortin (DCX) gene product

cl22451
Location:299 → 419

ASF1_hist_chap; ASF1 like histone chaperone