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Aliases for CCDC115 Gene

Aliases for CCDC115 Gene

  • Coiled-Coil Domain Containing 115 2 3 5
  • CDG2O 3
  • CCP1 3

External Ids for CCDC115 Gene

Previous GeneCards Identifiers for CCDC115 Gene

  • GC02M130814
  • GC02M131095
  • GC02M123385

Summaries for CCDC115 Gene

Entrez Gene Summary for CCDC115 Gene

  • The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]

GeneCards Summary for CCDC115 Gene

CCDC115 (Coiled-Coil Domain Containing 115) is a Protein Coding gene. Diseases associated with CCDC115 include congenital disorder of glycosylation 2o.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC115 Gene

Genomics for CCDC115 Gene

Regulatory Elements for CCDC115 Gene

Enhancers for CCDC115 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CCDC115 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC115 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCDC115 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC115 Gene

Chromosome:
2
Start:
130,337,933 bp from pter
End:
130,342,810 bp from pter
Size:
4,878 bases
Orientation:
Minus strand

Genomic View for CCDC115 Gene

Genes around CCDC115 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC115 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC115 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC115 Gene

Proteins for CCDC115 Gene

  • Protein details for CCDC115 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NT0-CC115_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 115
    Protein Accession:
    Q96NT0
    Secondary Accessions:
    • B4DJ47
    • Q9BR88

    Protein attributes for CCDC115 Gene

    Size:
    180 amino acids
    Molecular mass:
    19761 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC115 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC115 Gene

Proteomics data for CCDC115 Gene at MOPED

Post-translational modifications for CCDC115 Gene

  • Ubiquitination at Lys 44
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC115 Gene

No data available for DME Specific Peptides for CCDC115 Gene

Domains & Families for CCDC115 Gene

Protein Domains for CCDC115 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC115: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC115 Gene

Function for CCDC115 Gene

genes like me logo Genes that share phenotypes with CCDC115: view

Animal Model Products

CRISPR 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 CCDC115 Gene

Localization for CCDC115 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC115 Gene

Endosome. Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC115 Gene COMPARTMENTS Subcellular localization image for CCDC115 gene
Compartment Confidence
endosome 3
lysosome 3
nucleus 3
vacuole 3
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CCDC115 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 26833332
GO:0016020 membrane IDA 19946888
GO:0030137 COPI-coated vesicle IDA 26833332
genes like me logo Genes that share ontologies with CCDC115: view

Pathways & Interactions for CCDC115 Gene

SuperPathways for CCDC115 Gene

No Data Available

Interacting Proteins for CCDC115 Gene

Gene Ontology (GO) - Biological Process for CCDC115 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC115 Gene

Drugs & Compounds for CCDC115 Gene

No Compound Related Data Available

Transcripts for CCDC115 Gene

Unigene Clusters for CCDC115 Gene

Coiled-coil domain containing 115:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC115 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e
SP1: - - -
SP2: - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - -
SP8:
SP9:
SP10:

Relevant External Links for CCDC115 Gene

GeneLoc Exon Structure for
CCDC115
ECgene alternative splicing isoforms for
CCDC115

Expression for CCDC115 Gene

mRNA expression in normal human tissues for CCDC115 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC115 Gene

This gene is overexpressed in Synovial fluid (29.7), Peripheral blood mononuclear cells (10.8), Kidney (8.2), and Bone (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CCDC115 Gene



SOURCE GeneReport for Unigene cluster for CCDC115 Gene Hs.104203

mRNA Expression by UniProt/SwissProt for CCDC115 Gene

Q96NT0-CC115_HUMAN
Tissue specificity: Expressed throughout the brain.
genes like me logo Genes that share expression patterns with CCDC115: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CCDC115 Gene

Orthologs for CCDC115 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC115 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC614882 35
  • 81.7 (n)
  • 79.08 (a)
-- 36
  • 68 (a)
OneToMany
CCDC115 36
  • 77 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CCDC115 35
  • 84.44 (n)
  • 83.33 (a)
CCDC115 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc115 35
  • 80 (n)
  • 78.89 (a)
Ccdc115 16
Ccdc115 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC115 35
  • 99.81 (n)
  • 100 (a)
CCDC115 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc115 35
  • 80.38 (n)
  • 80.57 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 45 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CCDC115 36
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:113121 35
  • 53.01 (n)
  • 46.99 (a)
CCDC115 36
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for CCDC115:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC115 Gene

ENSEMBL:
Gene Tree for CCDC115 (if available)
TreeFam:
Gene Tree for CCDC115 (if available)

Paralogs for CCDC115 Gene

No data available for Paralogs for CCDC115 Gene

Variants for CCDC115 Gene

Sequence variations from dbSNP and Humsavar for CCDC115 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1052900 -- 130,338,301(-) ACTGC(A/C)CAGAA nc-transcript-variant, utr-variant-3-prime
rs3178182 -- 130,338,249(-) TAACC(A/C)CTACC nc-transcript-variant, utr-variant-3-prime
rs14187 -- 130,338,634(+) ACCCT(A/G)CCAAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs56017827 -- 130,339,680(+) TCTTC(A/C/G)GCCTC intron-variant, nc-transcript-variant
rs6745164 -- 130,340,745(+) ACCAG(A/T)AAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC115 Gene

Variant ID Type Subtype PubMed ID
nsv459274 CNV Loss 19166990
dgv1247e1 CNV Complex 17122850
esv2751826 CNV Gain 17911159
dgv1250e1 CNV Complex 17122850
nsv428403 CNV Loss 18775914
dgv4305n71 CNV Gain 21882294
dgv4306n71 CNV Gain 21882294
nsv7327 OTHER Inversion 18451855
dgv4307n71 CNV Gain 21882294
nsv520559 CNV Gain+Loss 19592680
nsv875084 CNV Gain+Loss 21882294
dgv4308n71 CNV Gain 21882294
nsv470485 CNV Gain 18288195
nsv818080 CNV Gain 17921354
dgv475n27 CNV Gain 19166990
essv2399 CNV CNV 17122850
dgv4309n71 CNV Gain 21882294
nsv459341 CNV Loss 19166990
nsv875097 CNV Loss 21882294
nsv875098 CNV Gain 21882294
dgv4310n71 CNV Gain 21882294

Variation tolerance for CCDC115 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC115 Gene

HapMap Linkage Disequilibrium report
CCDC115

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC115 Gene

Disorders for CCDC115 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC115 Gene - From: ClinVar and Swiss-Prot

Disorder Aliases PubMed IDs
congenital disorder of glycosylation 2o
  • cdg iio
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC115

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC115
genes like me logo Genes that share disorders with CCDC115: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC115 Gene

Publications for CCDC115 Gene

  1. Regulation of cell proliferation and apoptosis in neuroblastoma cells by ccp1, a FGF2 downstream gene. (PMID: 21118521) Pellicano F. … Iwata T. (BMC Cancer 2010) 2 3 67
  2. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. (PMID: 26833332) Jansen J.C. … Lefeber D.J. (Am. J. Hum. Genet. 2016) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for CCDC115 Gene

Sources for CCDC115 Gene

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