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Aliases for CCDC180 Gene

Aliases for CCDC180 Gene

  • Coiled-Coil Domain Containing 180 2 3 5
  • Behcets Disease Associated Gene 1 2 3
  • KIAA1529 2 4
  • C9orf174 3 4
  • Coiled-Coil Domain-Containing Protein 180 3
  • Chromosome 9 Open Reading Frame 174 2

External Ids for CCDC180 Gene

Previous HGNC Symbols for CCDC180 Gene

  • KIAA1529
  • C9orf174

Previous GeneCards Identifiers for CCDC180 Gene

  • GC09P100028
  • GC09P100033

Summaries for CCDC180 Gene

Entrez Gene Summary for CCDC180 Gene

  • The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]

GeneCards Summary for CCDC180 Gene

CCDC180 (Coiled-Coil Domain Containing 180) is a Protein Coding gene. Diseases associated with CCDC180 include Behcet Syndrome.

Additional gene information for CCDC180 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC180 Gene

Genomics for CCDC180 Gene

GeneHancer (GH) Regulatory Elements for CCDC180 Gene

Promoters and enhancers for CCDC180 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J097236 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 676.5 -68.9 -68907 2.9 HDGF ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 E2F8 CCDC180 STRA6LP SUGT1P4-STRA6LP-CCDC180 SUGT1P4-STRA6LP SUGT1P4 ENSG00000203279 NCBP1 ANKRD18CP MFSD14C ZNF782
GH09J097306 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 676.8 +0.3 325 1.6 CTCF USF1 RFX1 MAX SIN3A USF2 RAD21 ZKSCAN1 POLR2A EGR1 CCDC180 ANKRD18CP ENSG00000203279 ENSG00000235494 MIR1302-8 STRA6LP SUGT1P4-STRA6LP-CCDC180
GH09J097380 Enhancer 1 ENCODE dbSUPER 35.9 +74.9 74929 2.5 ELF3 FOXA2 ARID4B RAD21 RARA YY1 ZNF614 IKZF2 THAP11 MIXL1 CCDC180 TDRD7 VN1R51P LOC105376167 MIR1302-8
GH09J097384 Enhancer 1.4 Ensembl ENCODE dbSUPER 24.9 +78.7 78719 3.5 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF2 ZNF48 ZNF766 ZNF143 ATF7 CCDC180 VN1R51P GAS2L1P2 LOC105376167 LOC286359 MIR1302-8
GH09J097220 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 19.4 -86.0 -86049 3 BCOR CTCF USF1 NFATC3 MZF1 ZNF335 E2F1 CTBP1 PHF20 POLR2A ANKRD18CP PIR49577 GC09M097223 VN1R51P CCDC180 MFSD14C NCBP1 NUTM2G ZNF782 ENSG00000203279
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC180 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CCDC180 Gene

Genomic Locations for CCDC180 Gene
71,221 bases
Plus strand
140,042 bases
Plus strand

Genomic View for CCDC180 Gene

Genes around CCDC180 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC180 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC180 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC180 Gene

Proteins for CCDC180 Gene

  • Protein details for CCDC180 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 180
    Protein Accession:
    Secondary Accessions:
    • Q2KHR6
    • Q5VV25
    • Q68DP5
    • Q69YV9
    • Q6AHY0

    Protein attributes for CCDC180 Gene

    1646 amino acids
    Molecular mass:
    191100 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA96053.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH18175.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC180 Gene


neXtProt entry for CCDC180 Gene

Post-translational modifications for CCDC180 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC180 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for CCDC180
  • Santa Cruz Biotechnology (SCBT) Antibodies for CCDC180

No data available for DME Specific Peptides for CCDC180 Gene

Domains & Families for CCDC180 Gene

Gene Families for CCDC180 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC180 Gene


Suggested Antigen Peptide Sequences for CCDC180 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC180: view

No data available for UniProtKB/Swiss-Prot for CCDC180 Gene

Function for CCDC180 Gene

Phenotypes From GWAS Catalog for CCDC180 Gene

Animal Model Products

miRNA for CCDC180 Gene

miRTarBase miRNAs that target CCDC180

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC180 Gene

Localization for CCDC180 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC180 Gene

Membrane; Single-pass membrane protein.

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 CCDC180 gene
Compartment Confidence
extracellular 5
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CCDC180 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CCDC180: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCDC180 Gene

Pathways & Interactions for CCDC180 Gene

SuperPathways for CCDC180 Gene

No Data Available

Interacting Proteins for CCDC180 Gene

Gene Ontology (GO) - Biological Process for CCDC180 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC180 Gene

Drugs & Compounds for CCDC180 Gene

No Compound Related Data Available

Transcripts for CCDC180 Gene

mRNA/cDNA for CCDC180 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC180 Gene

Coiled-coil domain containing 180:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC180 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^

ExUns: 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP2: -
SP3: -

Relevant External Links for CCDC180 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC180 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC180 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC180 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for CCDC180 Gene

This gene is overexpressed in Brain (53.7) and Nasal epithelium (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC180 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC180 Gene:


SOURCE GeneReport for Unigene cluster for CCDC180 Gene:


Evidence on tissue expression from TISSUES for CCDC180 Gene

  • Nervous system(4.1)
  • Kidney(3.2)
genes like me logo Genes that share expression patterns with CCDC180: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC180 Gene

Orthologs for CCDC180 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC180 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC464596 33
  • 99.08 (n)
CCDC180 34
  • 98 (a)
(Bos Taurus)
Mammalia CCDC180 34 33
  • 81.53 (n)
(Canis familiaris)
Mammalia C11H9orf174 33
  • 81.05 (n)
CCDC180 34
  • 64 (a)
(Mus musculus)
Mammalia E230008N13Rik 34 33
  • 75.65 (n)
Ccdc180 16
(Rattus norvegicus)
Mammalia Ccdc180 33
  • 73.66 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 49 (a)
-- 34
  • 45 (a)
-- 34
  • 39 (a)
(Monodelphis domestica)
Mammalia CCDC180 34
  • 43 (a)
(Gallus gallus)
Aves C17H9ORF174 33
  • 53.6 (n)
CCDC180 34
  • 35 (a)
(Anolis carolinensis)
Reptilia CCDC180 34
  • 44 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492567 33
  • 51.13 (n)
(Danio rerio)
Actinopterygii LOC100538012 33
  • 48.08 (n)
CCDC180 34
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
Species where no ortholog for CCDC180 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC180 Gene

Gene Tree for CCDC180 (if available)
Gene Tree for CCDC180 (if available)
Evolutionary constrained regions (ECRs) for CCDC180: view image

Paralogs for CCDC180 Gene

(2) SIMAP similar genes for CCDC180 Gene using alignment to 4 proteins:

  • CC180_HUMAN
  • F5H149_HUMAN
genes like me logo Genes that share paralogs with CCDC180: view

No data available for Paralogs for CCDC180 Gene

Variants for CCDC180 Gene

Sequence variations from dbSNP and Humsavar for CCDC180 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs869025225 uncertain-significance, Ductal breast carcinoma 97,330,336(+) C/G coding_sequence_variant, missense_variant
rs1000007344 -- 97,363,337(+) A/T intron_variant
rs1000015137 -- 97,342,860(+) C/T intron_variant
rs1000037827 -- 97,319,929(+) C/A intron_variant
rs1000117965 -- 97,325,484(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC180 Gene

Variant ID Type Subtype PubMed ID
esv2761547 CNV loss 21179565
esv2762823 CNV loss 21179565
esv3305119 CNV mobile element insertion 20981092
esv3327906 CNV insertion 20981092
esv3621188 CNV loss 21293372

Variation tolerance for CCDC180 Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.44; 94.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC180 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC180 Gene

Disorders for CCDC180 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC180 Gene - From: DISEASES

Disorder Aliases PubMed IDs
behcet syndrome
  • behcet disease; bd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC180

genes like me logo Genes that share disorders with CCDC180: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC180 Gene

Publications for CCDC180 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 3 4 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. 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
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales PA … Knepper MA (Journal of the American Society of Nephrology : JASN 2009) 3 58

Products for CCDC180 Gene

Sources for CCDC180 Gene

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