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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.

Additional gene information for CCDC51 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 CCDC51 Gene

Genomics for CCDC51 Gene

GeneHancer (GH) Regulatory Elements for CCDC51 Gene

Promoters and enhancers for CCDC51 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
GH03I048439 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 329 3.2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 TMA7 CCDC51 ATRIP QRICH1 USP19 CCDC36 ENSG00000225399 NME6 SHISA5 PRKAR2A
GH03I048551 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -118.2 -118192 15.4 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B PFKFB4 UCN2 TMA7 NME6 QRICH1 ATRIP USP19 ZNF589 WDR6 TMEM89
GH03I048464 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.6 -29.0 -29011 11.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SHISA5 TREX1 TMA7 ATRIP NME6 QRICH1 USP19 MRPS18AP1 TMEM89 RHOA-IT1
GH03I048239 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.3 +200.2 200154 2.8 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF589 GC03M048234 QRICH1 NME6 CCDC71 ATRIP PTPN23 USP19 MRPS18AP1 TMEM89
GH03I048477 Enhancer 1 Ensembl ENCODE dbSUPER 11.3 -37.8 -37844 2.9 MAX ZFHX2 IKZF1 MLLT1 RUNX3 IKZF2 MYC EGR2 ZXDB TMA7 SHISA5 ENSG00000244380 ATRIP CCDC51 PFKFB4 UCN2 COL7A1 FBXW12 SLC26A6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC51 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC51 gene promoter:

Genomic Locations for CCDC51 Gene

Genomic Locations for CCDC51 Gene
chr3:48,432,164-48,441,078
(GRCh38/hg38)
Size:
8,915 bases
Orientation:
Minus strand
chr3:48,473,574-48,481,866
(GRCh37/hg19)

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

Gene Families for CCDC51 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 UniProtKB/Swiss-Prot for CCDC51 Gene

Function for CCDC51 Gene

Phenotypes From GWAS Catalog 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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

Gene Ontology (GO) - Biological Process for CCDC51 Gene

None

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

Drugs & Compounds for CCDC51 Gene

No Compound Related Data Available

Transcripts for CCDC51 Gene

Unigene Clusters for CCDC51 Gene

Coiled-coil domain containing 51:
Representative Sequences:

Clone 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 CGAP 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, PaxDb, 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

Evidence on tissue expression from TISSUES for CCDC51 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with CCDC51: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia CCDC51 33 34
  • 87.97 (n)
cow
(Bos Taurus)
Mammalia CCDC51 33 34
  • 85.97 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc51 33
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Ccdc51 33 16 34
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC51 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC51 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC51 33 34
  • 63.07 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC51 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc51 33
  • 59.28 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc51 33 34
  • 55.75 (n)
Dr.6242 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7497 33
worm
(Caenorhabditis elegans)
Secernentea ZC477.3 33 34
  • 45.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000190732 -- 48,447,040(-) C/A/T upstream_transcript_variant
rs1000260863 -- 48,441,221(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000335407 -- 48,441,432(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000435962 -- 48,435,782(-) A/G intron_variant
rs1000591725 -- 48,442,585(-) G/A/T genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for CCDC51

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CCDC51 Gene.

No data available for MalaCards , 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 SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 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. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for CCDC51 Gene

Sources for CCDC51 Gene

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