Gene Gene information from NCBI Gene database.
Entrez ID 728621
Gene name Coiled-coil domain containing 30
Gene symbol CCDC30
Synonyms (NCBI Gene)
PFD6LPFDN6L
Chromosome 1
Chromosome location 1p34.2
miRNA miRNA information provided by mirtarbase database.
253
miRTarBase ID miRNA Experiments Reference
MIRT018282 hsa-miR-335-5p Microarray 18185580
MIRT706334 hsa-miR-106a-5p HITS-CLIP 22927820
MIRT706333 hsa-miR-106b-5p HITS-CLIP 22927820
MIRT706332 hsa-miR-17-5p HITS-CLIP 22927820
MIRT706331 hsa-miR-20a-5p HITS-CLIP 22927820
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VVM6
Protein name Coiled-coil domain-containing protein 30 (Prefoldin subunit 6-like protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15742 DUF4686 227 610 Domain of unknown function (DUF4686) Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, kidney, pancreas, placenta, liver, thymus and prostate. {ECO:0000269|PubMed:16710767}.
Sequence
MSQEKNEMFESEWSKEREREKQLASGLDTAEKALKVESEELQKSKSELICLYNEVHNLPG
ESESKDHFLIACDLLQRENSELETKVLKLSQEFAQLNHFTLGGKTAPSNLITSENTCKDP
ESNEPILETEIQSRKEETEELCPKLGERKQKEIPEESVKEGSFPREGQKEEGSQQNRDMK
DEEKEQQLTMKPEEIVRLREELSHINQSLLQSQSSGDSSDDSGAQHPSSGEKLKYNQQGE
VQQLHQNLHRLQILCNSAENELRYERGQNLDLKQHNSLLQEENIKIKIELKHAQQKLLDS
TKMCSSLTAEYKHCQQKIKELELEVLKHTQSIKSQNNLQEKLVQEKSKVADAEEKILDLQ
RKLEHAHKVCLTDTCISEKQQLEEKIKEATQNEAKVKQQYQEEQQKRKLLYQNVDELHRQ
VRTLQDKENLLEMTCSQQQSRIQQQEALLKQLENEKRKYDEHVKSNQELSEKLSKLQQEK
EALREEYLRLLKLLNVHVRNYNEKHHQQKVKLQKVKYRLTNEVELRDKRINQFEDEIGIL
QHKIEKEKAIQDQITAQNDTLLLEKRKLQEQVIEQEQLIHSNKWTISSIQSRVLYMDKEN
KQLQENSLRL
TQQIGFLERIIRSIHIRRGENLKEFPVPKWWHRGKLASLPPTKKQKEIYS
TEVFTSNNAELQHEDESVPEATEKWKHSEQMETTISDILESEVVNEILPLSNSSFSGKGL
VESFASLQETEEIKSKEAMASSKSPEKSPENLVCSQNSEAGYINVASLKETHGIQEQDQK
SEL
Sequence length 783
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2C Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 35606283 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27089969
★☆☆☆☆
Found in Text Mining only
Thyroid Neoplasms Thyroid cancer Pubtator 32737449 Associate
★☆☆☆☆
Found in Text Mining only