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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 newcastle disease and trench 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

Promoters for CCDC130 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCDC130 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC130 Gene

Chromosome:
19
Start:
13,731,760 bp from pter
End:
13,763,296 bp from pter
Size:
31,537 bases
Orientation:
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:
    P13994-CC130_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 130
    Protein Accession:
    P13994
    Secondary Accessions:
    • Q9BQ72

    Protein attributes for CCDC130 Gene

    Size:
    396 amino acids
    Molecular mass:
    44802 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Proteomics data for CCDC130 Gene at MOPED

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC130 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13994

UniProtKB/Swiss-Prot:

CC130_HUMAN :
  • Belongs to the CWC16 family.
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.
genes like me logo Genes that share phenotypes with CCDC130: view

Animal Model Products

CRISPR Products

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

Localization for CCDC130 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC130 Gene COMPARTMENTS Subcellular localization image for CCDC130 gene
Compartment Confidence
nucleus 3
chloroplast 2
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC130 Gene

Pathways & Interactions for CCDC130 Gene

SuperPathways for CCDC130 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC130 Gene

None

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

Drugs & Compounds for CCDC130 Gene

No Compound Related Data Available

Transcripts for CCDC130 Gene

Unigene Clusters for CCDC130 Gene

Coiled-coil domain containing 130:
Representative Sequences:

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

No ASD Table

Relevant External Links for CCDC130 Gene

GeneLoc Exon Structure for
CCDC130
ECgene alternative splicing isoforms for
CCDC130

Expression for CCDC130 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CCDC130 Gene



SOURCE GeneReport for Unigene cluster for CCDC130 Gene Hs.24998

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

Protein tissue co-expression partners for CCDC130 Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC130 36
  • 99 (a)
OneToOne
CCDC130 35
  • 99.66 (n)
  • 99.49 (a)
cow
(Bos Taurus)
Mammalia CCDC130 36
  • 82 (a)
OneToOne
CCDC130 35
  • 87.37 (n)
  • 86.36 (a)
dog
(Canis familiaris)
Mammalia CCDC130 35
  • 86.7 (n)
  • 87.63 (a)
CCDC130 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc130 36
  • 80 (a)
OneToOne
Ccdc130 16
Ccdc130 35
  • 76.58 (n)
  • 80.79 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC130 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC130 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc130 35
  • 78.18 (n)
  • 80.1 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC130 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3673 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc130 35
  • 65.42 (n)
  • 68.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc130 35
  • 59.35 (n)
  • 60.58 (a)
Dr.18993 35
ccdc130 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007890 35
  • 58.9 (n)
  • 52.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15084 36
  • 51 (a)
OneToOne
CG15084 35
  • 57.79 (n)
  • 52.22 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1307.9 36
  • 39 (a)
OneToOne
CELE_ZK1307.9 35
  • 51.82 (n)
  • 50.78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YJU2 36
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G25682 35
  • 52.42 (n)
  • 48.55 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2132 35
rice
(Oryza sativa)
Liliopsida Os.10889 35
Os02g0324300 35
  • 52.25 (n)
  • 49.03 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5602 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9438 35
Species with no ortholog for CCDC130:
  • 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

ENSEMBL:
Gene Tree for CCDC130 (if available)
TreeFam:
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
rs12974461 - 13,756,204(+) TGGCT(C/G)TCTCA reference, missense
VAR_053855 -
rs442573 -- 13,755,591(+) AGACA(A/G)GGGAA intron-variant
rs373298 -- 13,749,291(+) GAGCC(A/G)CCGAG intron-variant
rs375486 -- 13,760,740(-) ggctc(A/G)tgcct intron-variant

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

Variant ID Type Subtype PubMed ID
esv34036 CNV Loss 18971310
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

HapMap Linkage Disequilibrium report
CCDC130

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

Disorders for CCDC130 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CCDC130 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
newcastle disease
  • newcastle disease [ambiguous]
trench fever
  • his-werner disease
phlebotomus fever
  • pappataci fever
dysentery
  • infectious diarrhea
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC130

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC130
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Dynamic protein-protein interaction wiring of the human spliceosome. (PMID: 22365833) Hegele A. … Stelzl U. (Mol. Cell 2012) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for CCDC130 Gene

Sources for CCDC130 Gene

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