Aliases for CCDC30 Gene

Aliases for CCDC30 Gene

  • Coiled-Coil Domain Containing 30 2 3 5
  • Coiled-Coil Domain-Containing Protein 30 3 4
  • Prefoldin Subunit 6-Like Protein 3 4
  • PFDN6L 3 4
  • PFD6L 2 3
  • Prefoldin 6-Like 2
  • LOC728621 2
  • FLJ20972 2
  • CCDC30 5

External Ids for CCDC30 Gene

Previous GeneCards Identifiers for CCDC30 Gene

  • GC01P042778
  • GC01P042929
  • GC01P041120

Summaries for CCDC30 Gene

GeneCards Summary for CCDC30 Gene

CCDC30 (Coiled-Coil Domain Containing 30) is a Protein Coding gene. Diseases associated with CCDC30 include Cardiomyopathy, Dilated, 2C.

Additional gene information for CCDC30 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC30 Gene

Genomics for CCDC30 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J042454 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 615.8 -0.1 -68 3.9 HNRNPL CREB1 PRDM10 ZNF629 REST TFE3 ZNF692 POLR2A BACH1 LARP7 CCDC30 PPCS ZMYND12 lnc-PPCS-1 SZT2 PPIH SVBP P3H1 HYI FOXJ3
GH01J042461 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 615.4 +7.1 7053 2.5 SP1 CREB1 PRDM10 ZNF629 RFX1 ZHX2 LARP7 PRDM1 ZNF143 ZIC2 CCDC30 HSALNG0003002 SZT2 ZMYND12 P3H1 PPIH MED8 ZNF691 PPCS
GH01J042472 Promoter 0.3 EPDnew 600.4 +16.9 16854 0.1 CCDC30 YBX1 HSALNG0003002 RPS3AP11 PPCS ZMYND12 PPIH
GH01J042333 Promoter/Enhancer 1.8 EPDnew ENCODE CraniofacialAtlas 30.1 -120.6 -120641 4.5 ZNF221 SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 FOXJ3 lnc-RIMKLA-1 CCDC30 P3H1 PPIH CLDN19 GUCA2B RNU6-536P ENSG00000236180 ZNF691
GH01J043388 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +933.6 933594 3 ARHGAP35 SP1 CREB1 PRDM10 ZNF629 LEF1 IKZF1 POLR2A RCOR2 BACH1 MED8 SZT2 HYI CCDC24 CCDC30 HYI-AS1 ENSG00000228452 LOC112268225 MED8-AS1 ELOVL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC30 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC30

Genomic Locations for CCDC30 Gene

Genomic Locations for CCDC30 Gene
chr1:42,456,107-42,657,190
(GRCh38/hg38)
Size:
201,084 bases
Orientation:
Plus strand
chr1:42,929,001-43,120,335
(GRCh37/hg19)
Size:
191,335 bases
Orientation:
Plus strand

Genomic View for CCDC30 Gene

Genes around CCDC30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC30 Gene

Proteins for CCDC30 Gene

  • Protein details for CCDC30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VVM6-CCD30_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 30
    Protein Accession:
    Q5VVM6
    Secondary Accessions:
    • Q14F06
    • Q5VVM5

    Protein attributes for CCDC30 Gene

    Size:
    783 amino acids
    Molecular mass:
    91333 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC30 Gene

Post-translational modifications for CCDC30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC30 Gene

Domains & Families for CCDC30 Gene

Gene Families for CCDC30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC30 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51377 (B4DXQ2_HUMAN)
  • Prefoldin subunit 6-like protein (CCD30_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VVM6

UniProtKB/Swiss-Prot:

CCD30_HUMAN :
  • Belongs to the prefoldin subunit beta family.
Family:
  • Belongs to the prefoldin subunit beta family.
genes like me logo Genes that share domains with CCDC30: view

Function for CCDC30 Gene

Phenotypes From GWAS Catalog for CCDC30 Gene

genes like me logo Genes that share phenotypes with CCDC30: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC30

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC30 Gene

Localization for CCDC30 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC30 gene
Compartment Confidence
nucleus 2
cytosol 1
golgi apparatus 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCDC30 Gene

Pathways & Interactions for CCDC30 Gene

PathCards logo

SuperPathways for CCDC30 Gene

No Data Available

Interacting Proteins for CCDC30 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000339280 Q5VVM6-CCD30_HUMAN for CCDC30 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CCDC30 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC30 Gene

Drugs & Compounds for CCDC30 Gene

No Compound Related Data Available

Transcripts for CCDC30 Gene

mRNA/cDNA for CCDC30 Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
57 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC30

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC30 Gene

No ASD Table

Relevant External Links for CCDC30 Gene

GeneLoc Exon Structure for
CCDC30

Expression for CCDC30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC30 Gene

Protein differential expression in normal tissues from HIPED for CCDC30 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (56.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC30 Gene



Protein tissue co-expression partners for CCDC30 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC30

SOURCE GeneReport for Unigene cluster for CCDC30 Gene:

Hs.729640

mRNA Expression by UniProt/SwissProt for CCDC30 Gene:

Q5VVM6-CCD30_HUMAN
Tissue specificity: Expressed in brain, kidney, pancreas, placenta, liver, thymus and prostate.
genes like me logo Genes that share expression patterns with CCDC30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC30 Gene

Orthologs for CCDC30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC30 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC30 30 31
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC30 30 31
  • 82.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC30 31
  • 69 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc30 31
  • 54 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC30 31
  • 52 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC30 31
  • 28 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC30 30 31
  • 56.42 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CCDC30 31
  • 16 (a)
OneToOne
Species where no ortholog for CCDC30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCDC30 Gene

ENSEMBL:
Gene Tree for CCDC30 (if available)
TreeFam:
Gene Tree for CCDC30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC30: view image

Paralogs for CCDC30 Gene

(1) SIMAP similar genes for CCDC30 Gene using alignment to 4 proteins:

  • CCD30_HUMAN
  • B4DXQ2_HUMAN
  • D6RB86_HUMAN
  • D6RFH8_HUMAN
genes like me logo Genes that share paralogs with CCDC30: view

No data available for Paralogs for CCDC30 Gene

Variants for CCDC30 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC30 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1557776329 Pathogenic: CARDIOMYOPATHY, DILATED, 2C 42,457,276(+) G/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs1557778277 Pathogenic: CARDIOMYOPATHY, DILATED, 2C 42,459,688(+) A/T MISSENSE_VARIANT,INTRON_VARIANT
rs753011525 Pathogenic: CARDIOMYOPATHY, DILATED, 2C 42,456,883(+) GCCTTCGGGCCCAGCC INFRAME_DELETION,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs16829829 - p.His772Asn

Additional dbSNP identifiers (rs#s) for CCDC30 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC30 Gene

Variant ID Type Subtype PubMed ID
dgv29e212 CNV loss 25503493
esv1025473 CNV insertion 17803354
esv2480910 CNV insertion 19546169
esv2520511 CNV deletion 19546169
esv2747541 CNV deletion 23290073
esv3561338 CNV deletion 23714750
esv3577249 CNV gain 25503493
esv3585850 CNV gain 21293372
nsv1075478 CNV deletion 25765185
nsv1122335 CNV deletion 24896259
nsv1133846 CNV deletion 24896259
nsv822453 CNV loss 20364138
nsv829682 CNV loss 17160897

Variation tolerance for CCDC30 Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC30 Gene

Human Gene Mutation Database (HGMD)
CCDC30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC30 Gene

Disorders for CCDC30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC30 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 2c
  • cmd2c
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC30 Gene

Publications for CCDC30 Gene

  1. Cloning and characterization of a novel human prefoldin and SPEC domain protein gene (PFD6L) from the fetal brain. (PMID: 16710767) Zhang J … Mao Y (Biochemical genetics 2006) 2 3 4
  2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  3. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. (PMID: 25820252) Fatima S … Jans DA (Scientific reports 2015) 3
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4

Products for CCDC30 Gene

  • Biorbyt antibodies for CCDC30

Sources for CCDC30 Gene