Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC54 Gene

Aliases for CCDC54 Gene

  • Coiled-Coil Domain Containing 54 2 3 5
  • Testis Development Protein NYD-SP17 3 4
  • Sperm Protein 17 2 3
  • Coiled-Coil Domain-Containing Protein 54 3
  • Testes Development-Related NYD-SP17 3
  • Testicular Tissue Protein Li 33 3
  • NYD-SP17 3
  • SP17 3

External Ids for CCDC54 Gene

Previous GeneCards Identifiers for CCDC54 Gene

  • GC03P108579
  • GC03P107096
  • GC03P104470

Summaries for CCDC54 Gene

GeneCards Summary for CCDC54 Gene

CCDC54 (Coiled-Coil Domain Containing 54) is a Protein Coding gene.

Additional gene information for CCDC54 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC54 Gene

Genomics for CCDC54 Gene

Regulatory Elements for CCDC54 Gene

Enhancers for CCDC54 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H107262 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.1 -113.0 -113046 3 GATA3 ZNF10 KLF9 TRIM28 FOXA1 CCDC54 BBX LOC649024 LOC101929579 GC03M107248
GH03H107428 1.4 FANTOM5 ENCODE 11.1 +53.4 53361 4 PKNOX1 SIN3A GLI4 ZNF2 YY1 ETS1 GLIS2 ZNF143 ZNF202 SP3 BBX CCDC54 LINC01990 LOC101929579
GH03H107235 1.4 Ensembl ENCODE dbSUPER 11.1 -140.8 -140811 2 PKNOX1 RB1 ARID4B ZNF2 RAD21 RFX5 GTF3C2 ZNF366 SCRT2 ZNF143 BBX CCDC54 LINC00882 LOC344593
GH03H107240 1.1 ENCODE dbSUPER 11.1 -136.1 -136108 1 MXI1 MAX SIN3A E2F1 CTBP1 GLIS2 ZBTB48 POLR2A ZNF143 ZNF207 BBX CCDC54 DUBR GC03P107248
GH03H107270 0.6 dbSUPER 18.3 -105.1 -105104 2 CTCF ZNF654 TRIM22 ZNF384 REST RAD21 GATA3 ZNF143 SMC3 CCDC54 BBX LOC101929579 GC03M107248 LOC649024
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC54 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC54 Gene

Chromosome:
3
Start:
107,377,194 bp from pter
End:
107,378,637 bp from pter
Size:
1,444 bases
Orientation:
Plus strand

Genomic View for CCDC54 Gene

Genes around CCDC54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC54 Gene

Proteins for CCDC54 Gene

  • Protein details for CCDC54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEL0-CCD54_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 54
    Protein Accession:
    Q8NEL0
    Secondary Accessions:
    • Q96A43

    Protein attributes for CCDC54 Gene

    Size:
    328 amino acids
    Molecular mass:
    37886 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC54 Gene

Post-translational modifications for CCDC54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC54 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC54 Gene

Domains & Families for CCDC54 Gene

Gene Families for CCDC54 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC54 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC54 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC54: view

No data available for UniProtKB/Swiss-Prot for CCDC54 Gene

Function for CCDC54 Gene

genes like me logo Genes that share phenotypes with CCDC54: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC54
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC54 Gene

Localization for CCDC54 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 CCDC54 gene
Compartment Confidence
mitochondrion 2
nucleus 2

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 CCDC54 Gene

Pathways & Interactions for CCDC54 Gene

SuperPathways for CCDC54 Gene

No Data Available

Interacting Proteins for CCDC54 Gene

Gene Ontology (GO) - Biological Process for CCDC54 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC54 Gene

Drugs & Compounds for CCDC54 Gene

No Compound Related Data Available

Transcripts for CCDC54 Gene

mRNA/cDNA for CCDC54 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC54 Gene

Coiled-coil domain containing 54:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC54
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC54 Gene

No ASD Table

Relevant External Links for CCDC54 Gene

GeneLoc Exon Structure for
CCDC54
ECgene alternative splicing isoforms for
CCDC54

Expression for CCDC54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC54 Gene

This gene is overexpressed in Testis (x50.6).

Protein differential expression in normal tissues from HIPED for CCDC54 Gene

This gene is overexpressed in NK cells (48.2) and Testis (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC54 Gene



Protein tissue co-expression partners for CCDC54 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC54 Gene:

CCDC54

SOURCE GeneReport for Unigene cluster for CCDC54 Gene:

Hs.164799
genes like me logo Genes that share expression patterns with CCDC54: view

Primer Products

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 CCDC54 Gene

Orthologs for CCDC54 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CCDC54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC54 33 34
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia CCDC54 33 34
  • 84.25 (n)
cow
(Bos Taurus)
Mammalia CCDC54 33 34
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc54 33
  • 76.83 (n)
mouse
(Mus musculus)
Mammalia Ccdc54 33 16 34
  • 76.52 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC54 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC54 34
  • 31 (a)
OneToOne
Species where no ortholog for CCDC54 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CCDC54 Gene

ENSEMBL:
Gene Tree for CCDC54 (if available)
TreeFam:
Gene Tree for CCDC54 (if available)

Paralogs for CCDC54 Gene

No data available for Paralogs for CCDC54 Gene

Variants for CCDC54 Gene

Sequence variations from dbSNP and Humsavar for CCDC54 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1001944039 -- 107,378,858(+) AGGGC(A/T)ATGTG downstream-variant-500B
rs1002985467 -- 107,375,872(+) GACTC(A/G)ATCAG upstream-variant-2KB
rs1004668893 -- 107,377,330(+) ACATC(A/C)GCAGC upstream-variant-2KB
rs1006173824 -- 107,375,481(+) CAGAG(G/T)GTTCA upstream-variant-2KB
rs1006341931 -- 107,378,689(+) CCACT(A/G)TCTGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CCDC54 Gene

Variant ID Type Subtype PubMed ID
nsv829653 CNV gain 17160897

Variation tolerance for CCDC54 Gene

Residual Variation Intolerance Score: 89.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.24; 76.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC54 Gene

Disorders for CCDC54 Gene

Relevant External Links for CCDC54

Genetic Association Database (GAD)
CCDC54
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC54

No disorders were found for CCDC54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC54 Gene

Publications for CCDC54 Gene

  1. Association of sperm protein 17 with A-kinase anchoring protein 3 in flagella. (PMID: 15257753) Lea IA … O'Rand MG (Reproductive biology and endocrinology : RB&E 2004) 2 3 60
  2. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PMID: 19690332) Mayya V … Han DK (Science signaling 2009) 4 60
  3. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PMID: 17903297) Seshadri S … Wolf PA (BMC medical genetics 2007) 45 60
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S … Cupples LA (BMC medical genetics 2007) 45 60
  5. Cancer immunotherapy targeting Sp17: when should the laboratory findings be translated to the clinics? (PMID: 16138340) Dadabayev AR … Lim SH (American journal of hematology 2005) 3 60

Products for CCDC54 Gene

Sources for CCDC54 Gene

Content
Loading form....