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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.

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

Regulatory Elements for CCDC180 Gene

Enhancers for CCDC180 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
GH09G097380 1.2 ENCODE dbSUPER 35.9 +74.9 74929 2.5 ARID4B YY1 TCF12 NCOA1 PPARG KAT8 ZNF592 MEF2D MBD2 SMARCA4 CCDC180 TDRD7 VN1R51P LOC105376167 MIR1302-8
GH09G097384 1.5 Ensembl ENCODE dbSUPER 24.9 +78.7 78720 3.5 ATF1 FOXA2 ARNT ZNF133 ARID4B SIN3A ZNF2 ZNF48 ZNF766 ZNF143 CCDC180 VN1R51P GAS2L1P2 LOC105376167 MIR1302-8
GH09G098117 1.7 FANTOM5 ENCODE dbSUPER 18.6 +812.9 812922 5.6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 NCBP1 ZNF322P1 CORO2A CCDC180 ENSG00000254633 LOC105376171 XPA TBC1D2 TRIM14 TRMO
GH09G097306 1.1 Ensembl ENCODE 26.8 +0.3 325 1.6 ATF1 FOXA2 CBX3 PKNOX1 TBL1XR1 ARNT RAD21 TCF12 GATA2 EGR1 CCDC180 ANKRD18CP ENSG00000203279 ENSG00000235494 MIR1302-8
GH09G097236 1.1 ENCODE 26.5 -68.9 -68907 2.9 HDGF CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF143 ANKRD18CP CCDC180 LOC441454 MFSD14C NCBP1 ENSG00000235494 VN1R52P LOC100499484-C9ORF174 LOC100499484
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC180 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC180 Gene

Chromosome:
9
Start:
97,307,304 bp from pter
End:
97,378,524 bp from pter
Size:
71,221 bases
Orientation:
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:
    Q9P1Z9-CC180_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 180
    Protein Accession:
    Q9P1Z9
    Secondary Accessions:
    • Q2KHR6
    • Q5VV25
    • Q68DP5
    • Q69YV9
    • Q6AHY0

    Protein attributes for CCDC180 Gene

    Size:
    1646 amino acids
    Molecular mass:
    191100 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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:

No data available for DME Specific Peptides for CCDC180 Gene

Domains & Families for CCDC180 Gene

Protein Domains for CCDC180 Gene

InterPro:
ProtoNet:

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 Gene Families and UniProtKB/Swiss-Prot for CCDC180 Gene

Function for CCDC180 Gene

Phenotypes for CCDC180 Gene

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

Animal Model Products

miRNA for CCDC180 Gene

miRTarBase miRNAs that target CCDC180

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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 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 IDA 19056867
genes like me logo Genes that share ontologies with CCDC180: view

Pathways & Interactions for CCDC180 Gene

SuperPathways for CCDC180 Gene

No Data Available

Interacting Proteins for CCDC180 Gene

Selected Interacting proteins: Q9P1Z9-CC180_HUMAN for CCDC180 Gene via IID

Gene Ontology (GO) - Biological Process for CCDC180 Gene

None

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 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CCDC180 Gene

GeneLoc Exon Structure for
CCDC180
ECgene alternative splicing isoforms for
CCDC180

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:

CCDC180

SOURCE GeneReport for Unigene cluster for CCDC180 Gene:

Hs.435629

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia LOC464596 34
  • 99.08 (n)
CCDC180 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC180 34 35
  • 81.53 (n)
dog
(Canis familiaris)
Mammalia C11H9orf174 34
  • 81.05 (n)
CCDC180 35
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia E230008N13Rik 34 35
  • 75.65 (n)
Ccdc180 16
rat
(Rattus norvegicus)
Mammalia Ccdc180 34
  • 73.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 49 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CCDC180 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17H9ORF174 34
  • 53.6 (n)
CCDC180 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC180 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492567 34
  • 51.13 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100538012 34
  • 48.08 (n)
CCDC180 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CCDC180 (if available)
TreeFam:
Gene Tree for CCDC180 (if available)

Paralogs for CCDC180 Gene

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

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 Sequence Context AA Info Type
rs869025225 Uncertain significance 97,330,336(+) AAAAA(C/G)CCTCC nc-transcript-variant, reference, missense
rs1000007344 -- 97,363,337(+) AGATG(A/T)CAATC intron-variant, downstream-variant-500B
rs1000015137 -- 97,342,860(+) GTCCT(C/T)AAAAC intron-variant
rs1000037827 -- 97,319,929(+) AAATT(A/C)GTTAC intron-variant
rs1000117965 -- 97,325,484(+) GGTTC(A/G)CAATG 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)

Relevant External Links for CCDC180 Gene

Human Gene Mutation Database (HGMD)
CCDC180
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC180

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 and GeneCards

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

Relevant External Links for CCDC180

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. 2000) 2 3 4 64
  2. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 3 4 64
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  4. 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
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales P.A. … Knepper M.A. (J. Am. Soc. Nephrol. 2009) 3 64

Products for CCDC180 Gene

Sources for CCDC180 Gene

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