Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	90416
Gene name	Coiled-coil domain containing 32
Gene symbol	CCDC32
Synonyms (NCBI Gene)	C15orf57CFNDS
Chromosome	15
Chromosome location	15q15.1

Show/Hide all (4)

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

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)

Show/Hide Causal Diseases (1)

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

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)