CCDC42 (coiled-coil domain containing 42)

Gene

• Entrez ID: 146849
• Gene name: Coiled-coil domain containing 42
• Gene symbol: CCDC42
• Synonyms (NCBI Gene): CCDC42A
• Chromosome: 17
• Chromosome location: 17p13.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018555	hsa-miR-335-5p	Microarray	18185580
MIRT868908	hsa-miR-1269	CLIP-seq
MIRT868909	hsa-miR-1269b	CLIP-seq
MIRT868910	hsa-miR-1288	CLIP-seq
MIRT868911	hsa-miR-3654	CLIP-seq
MIRT868912	hsa-miR-378	CLIP-seq
MIRT868913	hsa-miR-378b	CLIP-seq
MIRT868914	hsa-miR-378c	CLIP-seq
MIRT868915	hsa-miR-378d	CLIP-seq
MIRT868916	hsa-miR-378e	CLIP-seq
MIRT868917	hsa-miR-378f	CLIP-seq
MIRT868918	hsa-miR-378h	CLIP-seq
MIRT868919	hsa-miR-378i	CLIP-seq
MIRT868920	hsa-miR-422a	CLIP-seq
MIRT868921	hsa-miR-4487	CLIP-seq
MIRT868922	hsa-miR-4513	CLIP-seq
MIRT868923	hsa-miR-4515	CLIP-seq
MIRT868924	hsa-miR-4740-3p	CLIP-seq
MIRT868925	hsa-miR-4740-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001675	Process	Acrosome assembly	IEA
GO:0002177	Component	Manchette	IEA
GO:0002177	Component	Manchette	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007098	Process	Centrosome cycle	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IBA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0097228	Component	Sperm principal piece	IEA
GO:0097228	Component	Sperm principal piece	ISS
GO:0120212	Component	Sperm head-tail coupling apparatus	IEA
GO:0120212	Component	Sperm head-tail coupling apparatus	ISS

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q96M95
• Protein name: Coiled-coil domain-containing protein 42
• Protein function: Essential for male fertility. Required for sperm development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13863	DUF4200	44 → 162	Domain of unknown function (DUF4200)	Family

• Sequence:

  MSLGIMEEEDLAEYFRLQYGERLLQMLQKLPNVEGASESPSIWLLEKKKETEIMHQTMVQ
  KKKMFQRRMETLNLRWEELGVKEAQLKAHIQKSEQFIQENDQKRIRAMKKANKERELKCQ
  HMQELTKRKQEMVALRLEHQRLSAKLKDYYIFNKYLEKVVENSEFEEIHEVIARYKTLVS
  MRHDLMQSAQEGQEKIERAKARLARYMEEKDDEILQQNNELARLQMRFDRARSNVIFWES
  RWAHIQNTAAKKTLLLGTIKMATLNLFQIVSKHLKEVTEVALEDTHKQLDMIQQFIQDRS
  DIWAEVKKKEQQRVRI

• Sequence length: 316

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
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations