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CCDC130 Gene(Protein Coding)

Coiled-Coil Domain Containing 130

GCID:
GC19P013703
GIFtS:
38
Genes Participants
UDN Logo

Aliases for CCDC130 Gene

Aliases for CCDC130 Gene

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

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. Among its related pathways are Ectoderm Differentiation. An important paralog of this gene is YJU2.

Additional gene information for CCDC130 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 CCDC130 Gene

Genomics for CCDC130 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CCDC130 Gene

Promoters and enhancers for CCDC130 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
GH19J013747 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 685.3 +16.5 16459 2.2 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 CCDC130 TRMT1 DDX39A MRI1 DCAF15 SYCE2 RFX1 MIR181C ENSG00000267735 LOC284454
GH19J013729 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.7 -735 3.1 PKNOX1 CLOCK ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B ZNF213 ZNF207 CCDC130 MRI1 CACNA1A LOC105372284
GH19J013148 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 117.9 -578.1 -578065 10.2 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 STX10 IER2 ENSG00000267598 CCDC130 ZNF136 TRMT1 ZNF44 ZNF564 WDR83OS ZNF791
GH19J012781 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 119 -942.5 -942462 16 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 IER2 ZNF136 CCDC130 ZNF44 ZNF791 ZNF564 TRMT1 WDR83OS ZNF442 ZNF700
GH19J014000 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 102.9 +272.3 272340 7 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 NFYC RFX1 CCDC130 TRMT1 DDX39A DCAF15 ZNF333 MRI1 LOC284454 ZSWIM4 TECR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC130 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC130 gene promoter:
  • RP58
  • AML1a
  • TGIF
  • c-Myb
  • E47
  • Tal-1
  • c-Ets-1
  • POU2F1

Genomic Locations for CCDC130 Gene

Genomic Locations for CCDC130 Gene
chr19:13,731,760-13,763,296
(GRCh38/hg38)
Size:
31,537 bases
Orientation:
Plus strand
chr19:13,842,574-13,874,110
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for CCDC130 Gene

Proteins for CCDC130 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CCDC130 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CCDC130 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC130 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC130 Gene

Domains & Families for CCDC130 Gene

Gene Families for CCDC130 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for CCDC130 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CCDC130 Gene

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

Phenotypes From GWAS Catalog for CCDC130 Gene

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

Clone 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

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 CCDC130 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

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

PathCards logo More details on SuperPathways for CCDC130
SuperPathway Contained pathways
1 Ectoderm Differentiation
Ectoderm Differentiation
-
genes like me logo Genes that share pathways with CCDC130: view

Pathways by source for CCDC130 Gene

1 BioSystems pathway for CCDC130 Gene

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 SIGNOR curated interactions for CCDC130 Gene

Drugs & Compounds for CCDC130 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CCDC130 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CCDC130 Gene

(10) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(304) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC130 Gene

Coiled-coil domain containing 130:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CCDC130 Gene
mRNA expression by BioGPS for CCDC130 GenemRNA expression by GTEx 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, MaxQB, and MOPED for CCDC130 Gene



Protein tissue co-expression partners for CCDC130 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC130 Gene:

CCDC130

SOURCE GeneReport for Unigene cluster for CCDC130 Gene:

Hs.24998

Evidence on tissue expression from TISSUES for CCDC130 Gene

  • Lung(4.3)
  • Pancreas(4.3)
  • Nervous system(2.6)
  • Eye(2)
genes like me logo Genes that share expression patterns with CCDC130: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.66 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CCDC130 34 33
  • 87.37 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CCDC130 34 33
  • 86.7 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ccdc130 33
  • 78.18 (n)
mouse
(Mus musculus)
 Mammalia Ccdc130 16 34 33
  • 76.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia CCDC130 34
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CCDC130 34
  • 69 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CCDC130 34
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ccdc130 33
  • 65.42 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.3673 33
zebrafish
(Danio rerio)
 Actinopterygii ccdc130 34 33
  • 59.35 (n)
 OneToOne
Dr.18993 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007890 33
  • 58.9 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG15084 34 33
  • 57.79 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea CELE_ZK1307.9 33
  • 51.82 (n)
ZK1307.9 34
  • 39 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YJU2 34
  • 23 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G25682 33
  • 52.42 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0324300 33
  • 52.25 (n)
Os.10889 33
wheat
(Triticum aestivum)
 Liliopsida Ta.5602 33
barley
(Hordeum vulgare)
 Liliopsida Hv.2132 33
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.9438 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.9438 33
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

ENSEMBL:
Gene Tree for CCDC130 (if available)
TreeFam:
Gene Tree for CCDC130 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC130: view image

Paralogs for CCDC130 Gene

Paralogs for CCDC130 Gene

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

  • CC130_HUMAN
  • K7EJZ6_HUMAN
  • K7ELI4_HUMAN
  • K7EP29_HUMAN
  • K7EPA5_HUMAN
  • K7ES43_HUMAN
genes like me logo Genes that share paralogs with CCDC130: view

Variants for CCDC130 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CCDC130 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000024796 -- 13,751,981(+) G/T intron_variant
rs1000134359 -- 13,757,351(+) G/A intron_variant
rs1000190133 -- 13,757,155(+) G/A intron_variant
rs1000442169 -- 13,739,808(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000514000 -- 13,746,003(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information for CCDC130 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC130

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

Additional Disease Information 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 (European journal of biochemistry 1988) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for CCDC130 Gene

  • Biorbyt antibodies for CCDC130

Sources for CCDC130 Gene

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