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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.

No data available for Entrez Gene 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
GH03F107262 1 FANTOM5 Ensembl ENCODE 16.1 -113.0 -113046 3.1 GATA3 PBX2 MAFK TRIM28 CCDC54 BBX LOC649024 LOC101929579 GC03M107248
GH03F107428 1.4 FANTOM5 ENCODE 11.1 +53.4 53361 4.4 PKNOX1 SIN3A GLI4 ZNF2 ETS1 YY1 GLIS2 ZNF143 ZNF202 ZNF263 BBX CCDC54 LINC01990 LOC101929579
GH03F107235 1.1 Ensembl ENCODE 11.1 -140.8 -140811 2.4 PKNOX1 ARID4B ZNF2 RAD21 RFX5 GTF3C2 ZNF366 SCRT2 ZNF143 ZNF654 BBX CCDC54 LINC00882 LOC344593
GH03F107240 0.8 ENCODE 11.1 -136.1 -136108 1.9 CTCF MXI1 TAF1 MAX SIN3A E2F1 GLIS2 ZBTB48 EGR1 POLR2A BBX CCDC54 DUBR GC03P107248
GH03F107403 0.7 ENCODE 11.9 +27.8 27768 2.2 MTA2 ZBTB11 NCOA1 FOSL1 JUND ZNF589 ATF3 NCOR1 ZKSCAN8 IKZF1 CCDC54 LOC101929579
- 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

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 Gene Families and UniProtKB/Swiss-Prot for CCDC54 Gene

Function for CCDC54 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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 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 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia CCDC54 34 35
  • 84.25 (n)
cow
(Bos Taurus)
Mammalia CCDC54 34 35
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc54 34
  • 76.83 (n)
mouse
(Mus musculus)
Mammalia Ccdc54 34 16 35
  • 76.52 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC54 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC54 35
  • 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
rs111360603 -- 107,379,001(+) GGAGT(C/T)TCACT downstream-variant-500B
rs111934037 -- 107,376,066(+) AACGT(A/C)CATAA upstream-variant-2KB
rs111989559 -- 107,378,755(+) AATTC(A/G)TTTTC downstream-variant-500B
rs112157650 -- 107,379,058(+) CCTCC(A/G/T)CCTCC downstream-variant-500B
rs112641427 -- 107,378,567(+) AACTC(A/C/G)ACTAT reference, missense

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 I.A. … O'Rand M.G. (Reprod. Biol. Endocrinol. 2004) 2 3 64
  2. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PMID: 19690332) Mayya V. … Han D.K. (Sci. Signal. 2009) 4 64
  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 P.A. (BMC Med. Genet. 2007) 46 64
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S. … Cupples L.A. (BMC Med. Genet. 2007) 46 64
  5. Cancer immunotherapy targeting Sp17: when should the laboratory findings be translated to the clinics? (PMID: 16138340) Dadabayev A.R. … Lim S.H. (Am. J. Hematol. 2005) 3 64

Products for CCDC54 Gene

Sources for CCDC54 Gene

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