Aliases for CCDC60 Gene

Aliases for CCDC60 Gene

  • Coiled-Coil Domain Containing 60 2 3 5
  • Coiled-Coil Domain-Containing Protein 60 3 4
  • MGC39827 2
  • CCDC60 5

External Ids for CCDC60 Gene

Previous GeneCards Identifiers for CCDC60 Gene

  • GC12P118238
  • GC12P119772
  • GC12P116780

Summaries for CCDC60 Gene

GeneCards Summary for CCDC60 Gene

CCDC60 (Coiled-Coil Domain Containing 60) is a Protein Coding gene. Diseases associated with CCDC60 include Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 and Neuronitis.

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 CCDC60 Gene

Genomics for CCDC60 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC60 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J119336 Promoter/Enhancer 0.9 EPDnew Ensembl 250.7 -0.1 -69 0.5 SIN3A VEZF1 TAF1 RFX1 ZNF148 SP1 NR2C1 NR2C2 CHD2 CCDC60 NONHSAG012483.2 LINC00934 HSPB8
GH12J119335 Promoter 0.5 EPDnew 250.7 +0.3 296 0.1 VEZF1 ZNF148 CCDC60 NONHSAG012483.2 piR-49732-122 TMEM233
GH12J119206 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 1.7 -126.7 -126711 3.2 CEBPB CTCF REST FOXA1 RFX1 RFX5 HLF MNT RAD21 ZBTB17 CCDC60 HSPB8 SRRM4 LOC105370026 HSALNG0094464
GH12J119386 Enhancer 0.3 Ensembl 5.1 +52.2 52189 1.4 POLR2A CCDC60 lnc-HSPB8-5 piR-60597-015 NONHSAG012483.2 TMEM233 ENSG00000248636
GH12J119389 Enhancer 0.2 Ensembl 5.1 +56.0 55989 1.8 lnc-HSPB8-5 CCDC60 piR-50133-002 NONHSAG012483.2 TMEM233 ENSG00000248636 LOC105370027
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC60 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC60

Top Transcription factor binding sites by QIAGEN in the CCDC60 gene promoter:
  • c-Myc
  • E47
  • Evi-1
  • HOXA5
  • LCR-F1
  • Max1
  • STAT5A
  • Tal-1
  • Tal-1beta

Genomic Locations for CCDC60 Gene

Latest Assembly
206,336 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
206,312 bases
Plus strand

(GRCh37/hg19 by Ensembl)
206,336 bases
Plus strand

Genomic View for CCDC60 Gene

Genes around CCDC60 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC60 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC60 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC60 Gene

Proteins for CCDC60 Gene

  • Protein details for CCDC60 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 60
    Protein Accession:

    Protein attributes for CCDC60 Gene

    550 amino acids
    Molecular mass:
    63091 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC60 Gene

Post-translational modifications for CCDC60 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC60 Gene

Domains & Families for CCDC60 Gene

Gene Families for CCDC60 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC60 Gene


Suggested Antigen Peptide Sequences for CCDC60 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 60 (CCD60_HUMAN)
genes like me logo Genes that share domains with CCDC60: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC60 Gene

Function for CCDC60 Gene

Phenotypes From GWAS Catalog for CCDC60 Gene

Gene Ontology (GO) - Molecular Function for CCDC60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC60: view
genes like me logo Genes that share phenotypes with CCDC60: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC60

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC60 Gene

Localization for CCDC60 Gene

Subcellular locations from

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 CCDC60 gene
Compartment Confidence
nucleus 2
mitochondrion 1
cytosol 1

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 CCDC60 Gene

Pathways & Interactions for CCDC60 Gene

PathCards logo

SuperPathways for CCDC60 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC60 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC60 Gene

Drugs & Compounds for CCDC60 Gene

No Compound Related Data Available

Transcripts for CCDC60 Gene

mRNA/cDNA for CCDC60 Gene

6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC60

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC60 Gene

No ASD Table

Relevant External Links for CCDC60 Gene

GeneLoc Exon Structure for

Expression for CCDC60 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC60 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC60 Gene

This gene is overexpressed in Testis (x17.6) and Bladder (x5.7).

Protein differential expression in normal tissues from HIPED for CCDC60 Gene

This gene is overexpressed in Gallbladder (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC60 Gene

Protein tissue co-expression partners for CCDC60 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC60

SOURCE GeneReport for Unigene cluster for CCDC60 Gene:

genes like me logo Genes that share expression patterns with CCDC60: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC60 Gene

Orthologs for CCDC60 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC60 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC60 30 31
  • 99.52 (n)
(Bos Taurus)
Mammalia CCDC60 30 31
  • 84.65 (n)
(Canis familiaris)
Mammalia CCDC60 30 31
  • 83.9 (n)
(Rattus norvegicus)
Mammalia Ccdc60 30
  • 78.34 (n)
(Mus musculus)
Mammalia Ccdc60 30 17 31
  • 77.76 (n)
(Monodelphis domestica)
Mammalia CCDC60 31
  • 62 (a)
(Gallus gallus)
Aves CCDC60 30 31
  • 50.17 (n)
(Anolis carolinensis)
Reptilia CCDC60 31
  • 37 (a)
Species where no ortholog for CCDC60 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for CCDC60 Gene

Gene Tree for CCDC60 (if available)
Gene Tree for CCDC60 (if available)
Evolutionary constrained regions (ECRs) for CCDC60: view image

Paralogs for CCDC60 Gene

No data available for Paralogs for CCDC60 Gene

Variants for CCDC60 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC60 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1064319 - p.Ile46Val
rs16949292 - p.Val393Ile
rs2519540 - p.Thr115Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC60 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC60 Gene

Variant ID Type Subtype PubMed ID
dgv318e199 CNV deletion 23128226
esv2127888 CNV deletion 18987734
esv2674874 CNV deletion 23128226
esv2746459 CNV deletion 23290073
esv3407653 CNV duplication 20981092
esv3549870 CNV deletion 23714750
esv3549871 CNV deletion 23714750
esv3630902 CNV loss 21293372
esv3817 CNV loss 18987735
esv7481 CNV loss 19470904
nsv1035871 CNV gain 25217958
nsv474516 CNV novel sequence insertion 20440878
nsv832528 CNV gain 17160897
nsv832529 CNV loss 17160897

Variation tolerance for CCDC60 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.15; 84.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC60 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC60 Gene

Disorders for CCDC60 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC60 Gene - From: COP

Disorder Aliases PubMed IDs
congenital muscular dystrophy-dystroglycanopathy type a6
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a6
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC60

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCDC60: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC60 Gene

Publications for CCDC60 Gene

  1. A genome-wide association study in 574 schizophrenia trios using DNA pooling. (PMID: 18332876) Kirov G … O'Donovan MC (Molecular psychiatry 2009) 3 41
  2. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PMID: 17903295) Lunetta KL … Murabito JM (BMC medical genetics 2007) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for CCDC60 Gene

Sources for CCDC60 Gene