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Aliases for CCDC57 Gene

Aliases for CCDC57 Gene

  • Coiled-Coil Domain Containing 57 2 3 5

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. Diseases associated with CCDC57 include Uterine Benign Neoplasm.

Gene Wiki entry for CCDC57 Gene

Additional gene information for CCDC57 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC57 Gene

Genomics for CCDC57 Gene

GeneHancer (GH) Regulatory Elements for CCDC57 Gene

Promoters and enhancers for CCDC57 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
GH17I082211 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 609.9 -2.5 -2483 8.5 MLX ZFP64 DMAP1 SLC30A9 ZNF213 ZNF143 ZNF548 SP3 NFYC SSRP1 CCDC57 ENSG00000264548 TBCD CEP131 NARF-IT1 FAAP100 OGFOD3 ENSG00000260563 HGS ENSG00000262652
GH17I082227 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.8 -17.2 -17150 6.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 SLC16A3 GC17P082229 CCDC57 DCXR CSNK1D C17orf62 NARF PIR61518
GH17I082095 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39.1 +111.7 111710 13.5 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 FASN CCDC57 TBCD ENSG00000262877 CEP131 LOC105371942 ALYREF WDR45B ARL16 DCXR
GH17I082204 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 41.7 +7.6 7603 3.6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 SLC30A9 POLR2B ZNF207 CCDC57 SLC16A3 SECTM1 CSNK1D NARF C17orf62 SIRT7 MAFG GC17M082163
GH17I082200 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 44.4 +12.6 12605 1.8 HDAC1 HDGF PKNOX1 ARNT NFRKB ZBTB40 TCF12 RUNX3 CREM SMARCA5 CCDC57 HGS NARF-IT1 ACTG1 TEPSIN ARHGDIA CSNK1D ENSG00000260563 ALYREF CD7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC57 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC57 gene promoter:

Genomic Locations for CCDC57 Gene

Genomic Locations for CCDC57 Gene
chr17:82,101,460-82,213,520
(GRCh38/hg38)
Size:
112,061 bases
Orientation:
Minus strand
chr17:80,059,336-80,170,706
(GRCh37/hg19)

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:
    Q2TAC2-CCD57_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 57
    Protein Accession:
    Q2TAC2
    Secondary Accessions:
    • A6NP51
    • A8MQC7
    • Q8IWG2
    • Q8TER3

    Protein attributes for CCDC57 Gene

    Size:
    916 amino acids
    Molecular mass:
    103167 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW89746.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC57 Gene

    UniProtKB/Swiss-Prot:

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

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC57: view

No data available for 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:

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

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 CCDC57 gene
Compartment Confidence
nucleus 4
cytosol 4
cytoskeleton 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubule organizing center (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

SuperPathways for CCDC57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC57 Gene

None

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

Unigene Clusters for CCDC57 Gene

Coiled-coil domain containing 57:
Representative Sequences:

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
CCDC57
ECgene alternative splicing isoforms for
CCDC57

Expression for CCDC57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CCDC57 Gene



Protein tissue co-expression partners for CCDC57 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC57 Gene:

CCDC57

SOURCE GeneReport for Unigene cluster for CCDC57 Gene:

Hs.631724
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
chimpanzee
(Pan troglodytes)
Mammalia CCDC57 33 34
  • 91.3 (n)
cow
(Bos Taurus)
Mammalia CCDC57 33 34
  • 77.7 (n)
dog
(Canis familiaris)
Mammalia CCDC57 33 34
  • 75.85 (n)
mouse
(Mus musculus)
Mammalia Ccdc57 33 16 34
  • 69.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC57 34
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC57 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC57 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc57 33
  • 55.74 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc57 33
  • 52.87 (n)
CCDC57 (1 of 2) 34
  • 45 (a)
OneToMany
CCDC57 34
  • 27 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CCDC57 (if available)
TreeFam:
Gene Tree for CCDC57 (if available)

Paralogs for CCDC57 Gene

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

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

No data available for Paralogs for CCDC57 Gene

Variants for CCDC57 Gene

Sequence variations from dbSNP and Humsavar for CCDC57 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000016709 -- 82,137,014(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000059722 -- 82,179,502(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000074367 -- 82,137,415(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000097916 -- 82,149,337(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000155045 -- 82,193,472(-) G/A genic_upstream_transcript_variant, intron_variant

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)
CCDC57
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC57

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

Disorders for CCDC57 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC57 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
uterine benign neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC57

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCDC57: view

No data available for 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 44 58
  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 44 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for CCDC57 Gene

Sources for CCDC57 Gene

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