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	84660
Gene name	Coiled-coil domain containing 62
Gene symbol	CCDC62
Synonyms (NCBI Gene)	CT109ERAP75SPGF67TSP-NY
Chromosome	12
Chromosome location	12q24.31

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT724653	hsa-miR-4714-5p	HITS-CLIP	19536157
MIRT724652	hsa-miR-345-5p	HITS-CLIP	19536157
MIRT724651	hsa-miR-4522	HITS-CLIP	19536157
MIRT724650	hsa-miR-3161	HITS-CLIP	19536157
MIRT724653	hsa-miR-4714-5p	HITS-CLIP	19536157
MIRT724652	hsa-miR-345-5p	HITS-CLIP	19536157
MIRT724651	hsa-miR-4522	HITS-CLIP	19536157
MIRT724650	hsa-miR-3161	HITS-CLIP	19536157
MIRT869369	hsa-miR-3120-3p	CLIP-seq
MIRT869370	hsa-miR-3160-3p	CLIP-seq
MIRT869371	hsa-miR-345	CLIP-seq
MIRT869372	hsa-miR-3941	CLIP-seq
MIRT869373	hsa-miR-4487	CLIP-seq
MIRT869374	hsa-miR-466	CLIP-seq
MIRT869375	hsa-miR-4672	CLIP-seq
MIRT869376	hsa-miR-4699-3p	CLIP-seq
MIRT869377	hsa-miR-4796-5p	CLIP-seq
MIRT869378	hsa-miR-545	CLIP-seq
MIRT869379	hsa-miR-548c-3p	CLIP-seq
MIRT869380	hsa-miR-558	CLIP-seq
MIRT869381	hsa-miR-654-3p	CLIP-seq
MIRT1957941	hsa-miR-181a	CLIP-seq
MIRT1957942	hsa-miR-181b	CLIP-seq
MIRT1957943	hsa-miR-181c	CLIP-seq
MIRT1957944	hsa-miR-181d	CLIP-seq
MIRT1957945	hsa-miR-23a	CLIP-seq
MIRT1957946	hsa-miR-23b	CLIP-seq
MIRT1957947	hsa-miR-23c	CLIP-seq
MIRT869370	hsa-miR-3160-3p	CLIP-seq
MIRT869371	hsa-miR-345	CLIP-seq
MIRT1957948	hsa-miR-4262	CLIP-seq
MIRT869373	hsa-miR-4487	CLIP-seq
MIRT1957949	hsa-miR-4684-5p	CLIP-seq
MIRT1957950	hsa-miR-4768-5p	CLIP-seq
MIRT1957951	hsa-miR-489	CLIP-seq
MIRT1957952	hsa-miR-514	CLIP-seq
MIRT1957953	hsa-miR-514b-3p	CLIP-seq
MIRT869380	hsa-miR-558	CLIP-seq
MIRT869370	hsa-miR-3160-3p	CLIP-seq
MIRT869371	hsa-miR-345	CLIP-seq
MIRT2194922	hsa-miR-3616-5p	CLIP-seq
MIRT2194923	hsa-miR-3647-5p	CLIP-seq
MIRT869373	hsa-miR-4487	CLIP-seq
MIRT2194924	hsa-miR-4795-5p	CLIP-seq
MIRT869379	hsa-miR-548c-3p	CLIP-seq
MIRT869380	hsa-miR-558	CLIP-seq
MIRT2194925	hsa-miR-573	CLIP-seq
MIRT2194926	hsa-miR-592	CLIP-seq
MIRT2498292	hsa-miR-4328	CLIP-seq
MIRT2498292	hsa-miR-4328	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IDA	28339613
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003713	Function	Transcription coactivator activity	IPI	18563714, 19126643
GO:0005515	Function	Protein binding	IPI	19126643
GO:0005634	Component	Nucleus	IDA	19126643
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	IMP	31985809
GO:0030331	Function	Nuclear estrogen receptor binding	IPI	18563714, 19126643
GO:0030520	Process	Estrogen receptor signaling pathway	IDA	18563714, 19126643
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19126643
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IPI	18563714
GO:0071392	Process	Cellular response to estradiol stimulus	IDA	18563714, 19126643

MIM	HGNC	e!Ensembl
613481	30723	ENSG00000130783

Q6P9F0

Protein name

Coiled-coil domain-containing protein 62 (Protein TSP-NY) (Protein aaa)

Protein function

Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Also modulates progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effec

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in adult testis. Expressed in both prostate epithelial and stromal cells, with predominant expression in epithelial cells (at protein level) (PubMed:19126643). Not detected in prostate by RT-PCR (PubMed:19165854). Over

Sequence

MNPPAAFLAGRQNIGSEVEISTIEKQRKELQLLIGELKDRDKELNDMVAVHQQQLLSWEE
DRQKVLTLEERCSKLEGELHKRTEIIRSLTKKVKALESNQMECQTALQKTQLQLQEMAQK
ATHSSLLSEDLEARNETLSNTLVELSAQVGQLQAREQALTTMIKLKDKDIIEAVNHIADC
SGKFKMLEHALRDAKMAETCIVKEKQDYKQKLKALKIEVNKLKEDLNEKTTENNEQREEI
IRLKQEKSCLHDELLFTVEREKRKDELLNIAKSKQERTNSELHNLRQIYVKQQSDLQFLN
FNVENSQELIQMYDSKMEESKALDSSRDMCLSDLENNHPKVDIKREKNQKSLFKDQKFEA
MLVQQNRSDKSSCDECKEKKQQIDTVFGEKSVITLSSIFTKDLVEKHNLPWSLGGKTQIE
PENKITLCKIHTKSPKCHGTGVQNEGKQPSETPTLSDEKQWHDVSVYLGLTNCPSSKHPE
KLDVECQDQMERSEISCCQKNEACLGESGMCDSKCCHPSNFIIEAPGHMSDVEWMSIFKP
SKMQRIVRLKSGCTCSESICGTQHDSPASELIAIQDSHSLGSSKSALREDETESSSNKKN
SPTSLLIYKDAPAFNEKASIVLPSQDDFSPTSKLQRLLAESRQMVTDLELSTLLPISHEN
LTGSATNKSEVPEESAQKNTFVSY

Sequence length

684

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
Spermatogenic failure 67	Pathogenic	rs1021793710	RCV002034875	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	34994165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	21734494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19165854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	19165854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19165854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	21292315, 25064009, 27182965, 28892059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	21292315, 22451204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	21812969, 24514572, 34994165, 36926335	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	22507762, 24312176, 24335092, 24514572, 24631562, 25818163, 27035708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	24312176	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	24514572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	24514572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Serum Sickness	Serum Sickness	BEFREE	19165854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19165854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	31985809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CCDC62 (coiled-coil domain containing 62)