Aliases for CCDC57 Gene

Aliases for CCDC57 Gene

  • Coiled-Coil Domain Containing 57 2 3 5
  • Coiled-Coil Domain-Containing Protein 57 3 4

External Ids for CCDC57 Gene

Previous GeneCards Identifiers for CCDC57 Gene

  • GC17M077705
  • GC17M077652
  • GC17M080059
  • GC17M075459

Summaries for CCDC57 Gene

GeneCards Summary for CCDC57 Gene

CCDC57 (Coiled-Coil Domain Containing 57) is a Protein Coding gene. An important paralog of this gene is CCHCR1.

Gene Wiki entry for CCDC57 Gene

Additional gene information for CCDC57 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC57 Gene

Genomics for CCDC57 Gene

GeneHancer (GH) Regulatory Elements for CCDC57 Gene

Promoters and enhancers for CCDC57 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC57 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC57

Top Transcription factor binding sites by QIAGEN in the CCDC57 gene promoter:
  • AREB6
  • E47
  • Lmo2

Genomic Locations for CCDC57 Gene

Genomic Locations for CCDC57 Gene
112,061 bases
Minus strand
111,371 bases
Minus strand

Genomic View for CCDC57 Gene

Genes around CCDC57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC57 Gene

Proteins for CCDC57 Gene

  • Protein details for CCDC57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 57
    Protein Accession:
    Secondary Accessions:
    • A6NP51
    • A8MQC7
    • Q8IWG2
    • Q8TER3

    Protein attributes for CCDC57 Gene

    915 amino acids
    Molecular mass:
    103039 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAI10998.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=EAW89746.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC57 Gene


neXtProt entry for CCDC57 Gene

Post-translational modifications for CCDC57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC57 Gene

Domains & Families for CCDC57 Gene

Gene Families for CCDC57 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC57 Gene


Suggested Antigen Peptide Sequences for CCDC57 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 57 (CCD57_HUMAN)
genes like me logo Genes that share domains with CCDC57: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC57 Gene

Function for CCDC57 Gene

Phenotypes From GWAS Catalog for CCDC57 Gene

Gene Ontology (GO) - Molecular Function for CCDC57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC57: view
genes like me logo Genes that share phenotypes with CCDC57: view

Animal Models for CCDC57 Gene

MGI Knock Outs for CCDC57:
  • Ccdc57 Ccdc57<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CCDC57 Gene

miRTarBase miRNAs that target CCDC57

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC57 Gene

Localization for CCDC57 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 CCDC57 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC57 Gene

Pathways & Interactions for CCDC57 Gene

PathCards logo

SuperPathways for CCDC57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC57 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC57 Gene

Drugs & Compounds for CCDC57 Gene

No Compound Related Data Available

Transcripts for CCDC57 Gene

mRNA/cDNA for CCDC57 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC57 Gene

No ASD Table

Relevant External Links for CCDC57 Gene

GeneLoc Exon Structure for

Expression for CCDC57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC57 Gene

Protein differential expression in normal tissues from HIPED for CCDC57 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC57 Gene

Protein tissue co-expression partners for CCDC57 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC57

SOURCE GeneReport for Unigene cluster for CCDC57 Gene:

genes like me logo Genes that share expression patterns with CCDC57: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC57 Gene

Orthologs for CCDC57 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC57 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC57 31 30
  • 91.3 (n)
(Bos Taurus)
Mammalia CCDC57 31 30
  • 77.7 (n)
(Canis familiaris)
Mammalia CCDC57 31 30
  • 75.85 (n)
(Mus musculus)
Mammalia Ccdc57 17 31 30
  • 69.89 (n)
(Ornithorhynchus anatinus)
Mammalia CCDC57 31
  • 46 (a)
(Monodelphis domestica)
Mammalia CCDC57 31
  • 42 (a)
(Anolis carolinensis)
Reptilia CCDC57 31
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc57 30
  • 55.74 (n)
(Danio rerio)
Actinopterygii ccdc57 30
  • 52.87 (n)
CCDC57 (1 of 2) 31
  • 45 (a)
CCDC57 31
  • 27 (a)
Species where no ortholog for CCDC57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC57 Gene

Gene Tree for CCDC57 (if available)
Gene Tree for CCDC57 (if available)
Evolutionary constrained regions (ECRs) for CCDC57: view image

Paralogs for CCDC57 Gene

Paralogs for CCDC57 Gene

(1) SIMAP similar genes for CCDC57 Gene using alignment to 7 proteins:

  • K7N7D6_HUMAN
genes like me logo Genes that share paralogs with CCDC57: view

Variants for CCDC57 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC57 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs11077969 - p.Met833Thr
rs34543170 - p.Glu237Gln
rs4625783 - p.Arg774Gly
rs7209474 - p.Val480Met
rs7213172 - p.Gln810Lys

Additional dbSNP identifiers (rs#s) for CCDC57 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC57 Gene

Variant ID Type Subtype PubMed ID
dgv1524n106 CNV deletion 24896259
esv1004361 CNV deletion 20482838
esv1149029 CNV deletion 17803354
esv1493148 CNV deletion 17803354
esv21913 CNV gain+loss 19812545
esv2716472 CNV deletion 23290073
esv2716475 CNV deletion 23290073
esv2716476 CNV deletion 23290073
esv2716477 CNV deletion 23290073
esv2716478 CNV deletion 23290073
esv2716479 CNV deletion 23290073
esv2716480 CNV deletion 23290073
esv2716481 CNV deletion 23290073
esv3254 CNV loss 18987735
esv3554893 CNV deletion 23714750
esv3641417 CNV loss 21293372
esv3641418 CNV loss 21293372
esv3641419 CNV loss 21293372
esv3678 CNV loss 18987735
esv7032 CNV loss 19470904
nsv1055241 CNV loss 25217958
nsv1071416 CNV deletion 25765185
nsv1109114 CNV deletion 24896259
nsv1113897 CNV deletion 24896259
nsv1118778 CNV deletion 24896259
nsv1120343 CNV tandem duplication 24896259
nsv112197 CNV deletion 16902084
nsv112226 CNV deletion 16902084
nsv112507 CNV insertion 16902084
nsv1149309 CNV insertion 26484159
nsv2166 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv457976 CNV gain 19166990
nsv470621 CNV gain 18288195
nsv473057 CNV novel sequence insertion 20440878
nsv512510 CNV loss 21212237
nsv576187 CNV gain 21841781
nsv576192 CNV loss 21841781
nsv819888 CNV loss 19587683
nsv833572 CNV loss 17160897
nsv952393 CNV deletion 24416366

Variation tolerance for CCDC57 Gene

Gene Damage Index Score: 16.85; 97.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC57 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC57 Gene

Disorders for CCDC57 Gene

Additional Disease Information for CCDC57

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CCDC57 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC57 Gene

Publications for CCDC57 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. 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 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for CCDC57 Gene

Sources for CCDC57 Gene