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Aliases for CCDC115 Gene

Aliases for CCDC115 Gene

  • Coiled-Coil Domain Containing 115 2 3 5
  • Coiled-Coil Domain-Containing Protein 115 3
  • 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 Ccdc115-Cdg and Congenital Disorder Of Glycosylation, Type Ii.

UniProtKB/Swiss-Prot for CCDC115 Gene

  • May be involved in Golgi homeostasis.

No data available for 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 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
GH02F130797 1.2 FANTOM5 Ensembl ENCODE 2.4 -455.3 -455324 2.2 ATF1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF121 SLC30A9 GLIS2 CCDC115 CYCSP8 ARHGEF4
GH02F130389 1.6 FANTOM5 Ensembl ENCODE 1.7 -48.4 -48387 2.8 ELF3 ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 RAD21 YY1 GLIS2 PTPN18 FAR2P2 AMER3 CCDC115 LOC105373618 PIR36289
GH02F130341 0.6 ENCODE 0.8 +0.2 219 3.0 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 PTPN18 GC02P130344 CCDC115
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001546385 110 3001 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1

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

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

Molecular function for CCDC115 Gene

UniProtKB/Swiss-Prot Function:
May be involved in Golgi homeostasis.

Gene Ontology (GO) - Molecular Function for CCDC115 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding IBA --
genes like me logo Genes that share ontologies with CCDC115: view
genes like me logo Genes that share phenotypes with CCDC115: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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. Endoplasmic reticulum-Golgi intermediate compartment. Cytoplasmic vesicle, COPI-coated vesicle.

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:0005764 lysosome IEA --
GO:0005768 endosome IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA,IDA 26833332
GO:0016020 membrane IDA 19946888
GO:0030137 COPI-coated vesicle IEA,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

Transcripts for CCDC115 Gene

Unigene Clusters for CCDC115 Gene

Coiled-coil domain containing 115:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for CCDC115 Gene



NURSA nuclear receptor signaling pathways regulating expression of CCDC115 Gene:

CCDC115

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
chimpanzee
(Pan troglodytes)
Mammalia CCDC115 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia CCDC115 34 35
  • 84.44 (n)
cow
(Bos Taurus)
Mammalia LOC614882 34
  • 81.7 (n)
CCDC115 35
  • 77 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ccdc115 34
  • 80.38 (n)
mouse
(Mus musculus)
Mammalia Ccdc115 34 16 35
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 45 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CCDC115 35
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:113121 34
  • 53.01 (n)
CCDC115 35
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToOne
Species where no ortholog for CCDC115 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)
  • 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
rs751325113 Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828], Pathogenic 130,342,034(+) CGTTC(A/G)ACACC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs869025583 Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828], Pathogenic 130,342,095(-) AGCTG(G/T)ATTCG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1052900 -- 130,338,301(-) ACTGC(A/C)CAGAA nc-transcript-variant, utr-variant-3-prime
rs111423904 -- 130,340,880(+) GGGCC(A/G)CAGAG intron-variant, upstream-variant-2KB
rs111691330 -- 130,343,570(+) CTCGT(C/G)TCTAC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv2032n106 OTHER inversion 24896259
dgv4073n100 CNV gain 25217958
dgv475n27 CNV gain 19166990
dgv7079n54 CNV loss 21841781
dgv7080n54 CNV gain 21841781
dgv7083n54 CNV loss 21841781
esv2751826 CNV gain 17911159
esv2759092 CNV gain+loss 17122850
esv2760631 CNV gain+loss 21179565
esv2763387 CNV loss 21179565
esv3584065 CNV loss 25503493
esv3592450 CNV loss 21293372
esv3592451 CNV gain 21293372
esv3592452 CNV loss 21293372
esv3592453 CNV gain 21293372
esv3893326 CNV gain 25118596
nsv1001073 CNV gain 25217958
nsv1005664 CNV loss 25217958
nsv1147463 OTHER inversion 26484159
nsv428403 CNV loss 18775914
nsv459274 CNV loss 19166990
nsv459341 CNV loss 19166990
nsv470485 CNV gain 18288195
nsv520559 CNV gain+loss 19592680
nsv583046 CNV loss 21841781
nsv583113 CNV gain 21841781
nsv583132 CNV gain 21841781
nsv583133 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv818080 CNV gain 17921354
nsv998333 CNV gain+loss 25217958

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

Human Gene Mutation Database (HGMD)
CCDC115
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC115

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

Disorders for CCDC115 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ccdc115-cdg
  • cdg syndrome type iio
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CC115_HUMAN
  • Congenital disorder of glycosylation 2O (CDG2O) [MIM:616828]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. {ECO:0000269 PubMed:26833332}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 Genatlas for CCDC115 Gene

Publications for CCDC115 Gene

  1. 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) 2 3 4 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for CCDC115 Gene

Sources for CCDC115 Gene

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