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Aliases for CCDC130 Gene

Aliases for CCDC130 Gene

  • Coiled-Coil Domain Containing 130 2 3 5
  • 9 KDa Protein 4

External Ids for CCDC130 Gene

Previous GeneCards Identifiers for CCDC130 Gene

  • GC19P013860
  • GC19P013430

Summaries for CCDC130 Gene

GeneCards Summary for CCDC130 Gene

CCDC130 (Coiled-Coil Domain Containing 130) is a Protein Coding gene. Diseases associated with CCDC130 include Trench Fever and Phlebotomus Fever. An important paralog of this gene is CCDC94.

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 CCDC130 Gene

Genomics for CCDC130 Gene

Regulatory Elements for CCDC130 Gene

Enhancers for CCDC130 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
GH19F012781 1.7 FANTOM5 ENCODE 111.9 -942.5 -942463 16.0 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ZNF136 CCDC130 ZNF564 ZNF442 ZNF844 ZNF44 WDR83OS ZNF799 TRMT1 ZNF625
GH19F012983 1.8 FANTOM5 Ensembl ENCODE 78.6 -747.0 -747018 3.5 HDGF PKNOX1 CREB3L1 ARNT MLX SIN3A ARID4B DMAP1 ZNF2 ZNF143 ZNF136 CCDC130 ZNF564 ZNF625 WDR83OS ZNF844 ZNF442 MRI1 ZNF799 ZNF44
GH19F014227 1.1 Ensembl ENCODE 79.9 +496.6 496642 1.2 ZFP64 ZNF493 ZNF138 ZNF354C EGR2 ZNF202 ZNF680 ZNF654 SMAD5 OVOL3 CCDC130 MRI1 ZNF333 RFX1 DCAF15 MIR639 RN7SL231P ENSG00000267406
GH19F013115 1.8 FANTOM5 Ensembl ENCODE 45.4 -612.8 -612825 7.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 CCDC130 WDR83OS ZNF44 ZNF136 ZNF564 ZNF791 ZNF799 RFX1 MRI1 DCAF15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC130 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC130 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000043167 -60 1401 PKNOX1 ARID4B SIN3A ZNF2 ZNF207 ZNF143 FOS SP3 SP5 JUNB

Genomic Location for CCDC130 Gene

13,731,760 bp from pter
13,763,296 bp from pter
31,537 bases
Plus strand

Genomic View for CCDC130 Gene

Genes around CCDC130 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC130 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC130 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC130 Gene

Proteins for CCDC130 Gene

  • Protein details for CCDC130 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 130
    Protein Accession:
    Secondary Accessions:
    • Q9BQ72

    Protein attributes for CCDC130 Gene

    396 amino acids
    Molecular mass:
    44802 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAA32138.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA32138.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for CCDC130 Gene

Post-translational modifications for CCDC130 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC130 Gene

Domains & Families for CCDC130 Gene

Protein Domains for CCDC130 Gene


Suggested Antigen Peptide Sequences for CCDC130 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CWC16 family.
  • Belongs to the CWC16 family.
genes like me logo Genes that share domains with CCDC130: view

No data available for Gene Families for CCDC130 Gene

Function for CCDC130 Gene

Molecular function for CCDC130 Gene

UniProtKB/Swiss-Prot Induction:
By poly(RI), poly(RC) and Newcastle disease virus.

Gene Ontology (GO) - Molecular Function for CCDC130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CCDC130: view
genes like me logo Genes that share phenotypes with CCDC130: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC130 Gene

Localization for CCDC130 Gene

Subcellular locations from

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 CCDC130 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCDC130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CCDC130: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC130 Gene

Pathways & Interactions for CCDC130 Gene

SuperPathways for CCDC130 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009615 response to virus IEP 3203696
genes like me logo Genes that share ontologies with CCDC130: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC130 Gene

Transcripts for CCDC130 Gene

Unigene Clusters for CCDC130 Gene

Coiled-coil domain containing 130:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC130 Gene

No ASD Table

Relevant External Links for CCDC130 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC130 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC130 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC130 Gene

This gene is overexpressed in Placenta (43.1), Blymphocyte (18.6), and CD4 Tcells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC130 Gene

Protein tissue co-expression partners for CCDC130 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC130 Gene:


SOURCE GeneReport for Unigene cluster for CCDC130 Gene:

genes like me logo Genes that share expression patterns with CCDC130: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCDC130 Gene

Orthologs for CCDC130 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCDC130 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC130 35 34
  • 99.66 (n)
(Bos Taurus)
Mammalia CCDC130 34 35
  • 87.37 (n)
(Canis familiaris)
Mammalia CCDC130 34 35
  • 86.7 (n)
(Rattus norvegicus)
Mammalia Ccdc130 34
  • 78.18 (n)
(Mus musculus)
Mammalia Ccdc130 16 35 34
  • 76.58 (n)
(Monodelphis domestica)
Mammalia CCDC130 35
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia CCDC130 35
  • 69 (a)
(Anolis carolinensis)
Reptilia CCDC130 35
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc130 34
  • 65.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3673 34
(Danio rerio)
Actinopterygii ccdc130 34 35
  • 59.35 (n)
Dr.18993 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007890 34
  • 58.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15084 34 35
  • 57.79 (n)
(Caenorhabditis elegans)
Secernentea CELE_ZK1307.9 34
  • 51.82 (n)
ZK1307.9 35
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YJU2 35
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G25682 34
  • 52.42 (n)
(Oryza sativa)
Liliopsida Os02g0324300 34
  • 52.25 (n)
Os.10889 34
(Hordeum vulgare)
Liliopsida Hv.2132 34
(Triticum aestivum)
Liliopsida Ta.5602 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9438 34
Species where no ortholog for CCDC130 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CCDC130 Gene

Gene Tree for CCDC130 (if available)
Gene Tree for CCDC130 (if available)

Paralogs for CCDC130 Gene

Paralogs for CCDC130 Gene

(1) SIMAP similar genes for CCDC130 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CCDC130: view

Variants for CCDC130 Gene

Sequence variations from dbSNP and Humsavar for CCDC130 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10404326 -- 13,751,089(+) tggga(A/G)gggtt intron-variant
rs10404910 -- 13,759,788(+) accac(G/T)cctgg intron-variant
rs10406987 -- 13,747,494(+) agacg(C/G)agtct intron-variant, upstream-variant-2KB
rs10408240 -- 13,760,215(+) caccg(A/G)gacca intron-variant
rs10409632 -- 13,747,607(+) ctggg(A/G)ctaca intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CCDC130 Gene

Variant ID Type Subtype PubMed ID
esv34036 CNV loss 18971310
esv3893166 CNV gain 25118596
nsv833756 CNV loss 17160897
nsv833757 CNV loss 17160897

Variation tolerance for CCDC130 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC130 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC130 Gene

Disorders for CCDC130 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC130 Gene - From: DISEASES

Disorder Aliases PubMed IDs
trench fever
  • his-werner disease
phlebotomus fever
  • pappataci fever
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC130

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CCDC130: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC130 Gene

Publications for CCDC130 Gene

  1. Alternative mechanisms for gene activation induced by poly(rI).poly(rC) and Newcastle disease virus. (PMID: 3203696) Lammers R. … Collins J. (Eur. J. Biochem. 1988) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64

Products for CCDC130 Gene

Sources for CCDC130 Gene

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