Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	90416
Gene name	Coiled-coil domain containing 32
Gene symbol	CCDC32
Synonyms (NCBI Gene)	C15orf57CFNDS
Chromosome	15
Chromosome location	15q15.1

miRTarBase ID	miRNA	Experiments	Reference
MIRT608361	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608360	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608361	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608360	hsa-miR-574-5p	HITS-CLIP	24906430

9 Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21044950, 32296183, 32814053, 33859415
GO:0005905	Component	Clathrin-coated pit	IDA	33859415
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0044782	Process	Cilium organization	IBA
GO:0044782	Process	Cilium organization	ISS
GO:0060322	Process	Head development	IMP	32307552
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IDA	33859415

MIM	HGNC	e!Ensembl
618941	28295	ENSG00000128891

Q9BV29

Protein name

Coiled-coil domain-containing protein 32

Protein function

Regulates clathrin-mediated endocytsois of cargos such as transferrin probably through the association and modulation of adaptor protein complex 2 (AP-2) (PubMed:33859415). Has a role in ciliogenesis (By similarity). Required for proper cephalic

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14989	CCDC32	17 → 166	Coiled-coil domain containing 32	Coiled-coil

Sequence

MKMFESADSTATRSGQDLWAEICSCLPNPEQEDGANNAFSDSFVDSCPEGEGQREVADFA
VQPAVKPWAPLQDSEVYLASLEKKLRRIKGLNQEVTSKDMLRTLAQAKKECWDRFLQEKL
ASEFFVDGLDSDESTLEHFKRWLQPDKVAVSTEEVQYLIPPESQVEKPVAEDEPAAGDKP
AAAEQ

Sequence length

185

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiofacioneurodevelopmental syndrome	Pathogenic	rs1890756020, rs1890742129	RCV001270247 RCV001270248	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	33002439	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	33002439	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	32307552	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25499959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39823827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CCDC32 (coiled-coil domain containing 32)

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