DPCD (deleted in primary ciliary dyskinesia homolog (mouse))

Gene

• Entrez ID: 25911
• Gene name: Deleted in primary ciliary dyskinesia homolog (mouse)
• Gene symbol: DPCD
• Synonyms (NCBI Gene): -
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT943675	hsa-miR-202	CLIP-seq
MIRT943676	hsa-miR-3165	CLIP-seq
MIRT943677	hsa-miR-3616-5p	CLIP-seq
MIRT943678	hsa-miR-3647-5p	CLIP-seq
MIRT943679	hsa-miR-3689d	CLIP-seq
MIRT943680	hsa-miR-4635	CLIP-seq
MIRT943681	hsa-miR-4640-3p	CLIP-seq
MIRT943682	hsa-miR-573	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 28514442, 32296183, 33961781, 35271311
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021678	Process	Third ventricle development	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060972	Process	Left/right pattern formation	IEA

Other IDs

• MIM: 616467
• HGNC: 24542
• e!Ensembl: ENSG00000166171

Protein

• UniProt ID: Q9BVM2
• Protein name: Protein DPCD
• Protein function: May play a role in the formation or function of ciliated cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14913	DPCD	6 → 195	DPCD protein family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the testis. Weakly expressed in pancreas, skeletal muscle and heart. Expression increases during ciliated cell differentiation. {ECO:0000269|PubMed:14630615}.
• Sequence:

  MAVTGWLESLRTAQKTALLQDGRRKVHYLFPDGKEMAEEYDEKTSELLVRKWRVKSALGA
  MGQWQLEVGDPAPLGAGNLGPELIKESNANPIFMRKDTKMSFQWRIRNLPYPKDVYSVSV
  DQKERCIIVRTTNKKYYKKFSIPDLDRHQLPLDDALLSFAHANCTLIISYQKPKEVVVAE
  SELQKELKKVKTAHSNDGDCKTQ

• Sequence length: 203

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Kartagener Syndrome	Kartagener Syndrome	BEFREE	14630615		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	LHGDN	14630615		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	14630615		★☆☆☆☆ Found in Text Mining only