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Aliases for CCDC51 Gene

Aliases for CCDC51 Gene

  • Coiled-Coil Domain Containing 51 2 3 5

External Ids for CCDC51 Gene

Previous GeneCards Identifiers for CCDC51 Gene

  • GC03M048450
  • GC03M048473

Summaries for CCDC51 Gene

GeneCards Summary for CCDC51 Gene

CCDC51 (Coiled-Coil Domain Containing 51) is a Protein Coding gene. Diseases associated with CCDC51 include Ischemic Bone Disease.

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 CCDC51 Gene

Genomics for CCDC51 Gene

Regulatory Elements for CCDC51 Gene

Enhancers for CCDC51 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
GH03F048551 1.5 FANTOM5 ENCODE 11.1 -118.2 -118193 15.4 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF207 TMA7 WDR6 NICN1 FCF1P2 COL7A1 MIR711 ATRIP ENSG00000244380 CCDC51 FBXW12
GH03F048464 1.2 ENCODE 11.5 -29.0 -29011 11.4 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TMA7 ATRIP SHISA5 ENSG00000223343 ENSG00000244380 CCDC51 PLXNB1 MIR711 COL7A1 PFKFB4
GH03F048235 1.1 Ensembl ENCODE 10.6 +204.4 204377 1.8 ELF3 PKNOX1 ZNF133 FEZF1 THRB RARA SCRT2 THAP11 ZEB2 ZNF341 CDC25A FBXW12 NDUFB1P1 RNU7-128P PLXNB1 NME6 CCDC51 TMA7 ATRIP ENSG00000244380
GH03F048239 1.1 ENCODE 10.3 +200.2 200155 2.8 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF589 LAMB2 CCDC71 QRICH1 CDC25A PLXNB1 NME6 IMPDH2 TMA7 CCDC51
GH03F048477 0.9 Ensembl ENCODE 11.3 -37.7 -37709 3.2 KLF1 MAX ZIC2 ZFHX2 IKZF1 MLLT1 MYC EGR2 ZXDB TMA7 SHISA5 ATRIP ENSG00000244380 CCDC51 PFKFB4 UCN2 COL7A1 MIR711 FBXW12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC51 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC51 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001363424 778 2201 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143

Genomic Location for CCDC51 Gene

Chromosome:
3
Start:
48,432,164 bp from pter
End:
48,441,078 bp from pter
Size:
8,915 bases
Orientation:
Minus strand

Genomic View for CCDC51 Gene

Genes around CCDC51 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC51 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC51 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC51 Gene

Proteins for CCDC51 Gene

  • Protein details for CCDC51 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ER9-CCD51_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 51
    Protein Accession:
    Q96ER9
    Secondary Accessions:
    • Q9HA01

    Protein attributes for CCDC51 Gene

    Size:
    411 amino acids
    Molecular mass:
    45811 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH11993.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC51 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC51 Gene

Post-translational modifications for CCDC51 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC51 Gene

Domains & Families for CCDC51 Gene

Protein Domains for CCDC51 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC51 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC51: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC51 Gene

Function for CCDC51 Gene

genes like me logo Genes that share phenotypes with CCDC51: view

Animal Model Products

miRNA for CCDC51 Gene

miRTarBase miRNAs that target CCDC51

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC51 Gene

Localization for CCDC51 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC51 Gene

Membrane; Multi-pass membrane protein.

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 CCDC51 gene
Compartment Confidence
mitochondrion 4
nucleus 2
plasma membrane 1
extracellular 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CCDC51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCDC51: view

Pathways & Interactions for CCDC51 Gene

SuperPathways for CCDC51 Gene

No Data Available

Interacting Proteins for CCDC51 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000379047%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000379047 Q96ER9-CCD51_HUMAN for CCDC51 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CCDC51 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC51 Gene

Transcripts for CCDC51 Gene

Unigene Clusters for CCDC51 Gene

Coiled-coil domain containing 51:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC51 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: -
SP6: - - -

Relevant External Links for CCDC51 Gene

GeneLoc Exon Structure for
CCDC51
ECgene alternative splicing isoforms for
CCDC51

Expression for CCDC51 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC51 Gene

Protein differential expression in normal tissues from HIPED for CCDC51 Gene

This gene is overexpressed in Urine (9.5) and Bone (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC51 Gene



Protein tissue co-expression partners for CCDC51 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC51 Gene:

CCDC51

SOURCE GeneReport for Unigene cluster for CCDC51 Gene:

Hs.187657
genes like me logo Genes that share expression patterns with CCDC51: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCDC51 Gene

Orthologs for CCDC51 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC51 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC51 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia CCDC51 34 35
  • 87.97 (n)
cow
(Bos Taurus)
Mammalia CCDC51 34 35
  • 85.97 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc51 34
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Ccdc51 34 16 35
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC51 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC51 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC51 34 35
  • 63.07 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC51 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc51 34
  • 59.28 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc51 34 35
  • 55.75 (n)
Dr.6242 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7497 34
worm
(Caenorhabditis elegans)
Secernentea ZC477.3 34 35
  • 45.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToOne
Species where no ortholog for CCDC51 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for CCDC51 Gene

ENSEMBL:
Gene Tree for CCDC51 (if available)
TreeFam:
Gene Tree for CCDC51 (if available)

Paralogs for CCDC51 Gene

No data available for Paralogs for CCDC51 Gene

Variants for CCDC51 Gene

Sequence variations from dbSNP and Humsavar for CCDC51 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1058384 -- 48,440,305(+) TCCGG(C/T)CGCGA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs1058391 -- 48,440,309(+) GCCGC(C/G)AAGGT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs10663263 -- 48,445,191(+) AAATT(-/AATT)CAGAA intron-variant, upstream-variant-2KB
rs1109227 -- 48,437,797(+) AACCA(C/T)CAGTA intron-variant
rs111285316 -- 48,435,627(+) AAACA(A/G)CCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC51 Gene

Variant ID Type Subtype PubMed ID
nsv954483 CNV deletion 24416366
nsv834684 CNV gain 17160897
nsv834683 CNV gain 17160897
nsv590242 CNV loss 21841781
nsv508917 CNV insertion 20534489

Variation tolerance for CCDC51 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC51 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC51

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC51 Gene

Disorders for CCDC51 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC51 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ischemic bone disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC51

Genetic Association Database (GAD)
CCDC51
Human Genome Epidemiology (HuGE) Navigator
CCDC51
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC51
genes like me logo Genes that share disorders with CCDC51: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC51 Gene

Publications for CCDC51 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for CCDC51 Gene

Sources for CCDC51 Gene

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