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Aliases for CCDC140 Gene

Aliases for CCDC140 Gene

  • Coiled-Coil Domain Containing 140 2 3 5
  • Coiled-Coil Domain-Containing Protein 140 3

External Ids for CCDC140 Gene

Previous GeneCards Identifiers for CCDC140 Gene

  • GC02P222872
  • GC02P223162
  • GC02P215016

Summaries for CCDC140 Gene

Entrez Gene Summary for CCDC140 Gene

  • This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011]

GeneCards Summary for CCDC140 Gene

CCDC140 (Coiled-Coil Domain Containing 140) is a Protein Coding gene. Diseases associated with CCDC140 include Craniofacial-Deafness-Hand Syndrome and Waardenburg Syndrome, Type 1.

Additional gene information for CCDC140 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 CCDC140 Gene

Genomics for CCDC140 Gene

GeneHancer (GH) Regulatory Elements for CCDC140 Gene

Promoters and enhancers for CCDC140 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
GH02J222293 Promoter/Enhancer 1.3 EPDnew ENCODE 650.7 -1.2 -1201 5.9 ZSCAN4 ZNF48 ZNF335 GLIS2 ZNF366 SCRT2 SP3 ZBTB11 ZNF398 GLIS1 CCDC140 PAX3 GC02P222238
GH02J222289 Enhancer 0.9 FANTOM5 ENCODE 4.2 -7.1 -7121 3.4 CTCF USF1 ZNF189 SUZ12 SIN3A OSR2 SP1 CBX8 POLR2A CTBP2 PAX3 CCDC140 GC02P222238
GH02J222795 Enhancer 1.4 FANTOM5 Ensembl ENCODE 1.3 +498.5 498458 3.1 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 FOS SP5 NFYC SGPP2 CCDC140 LOC105373903 ACSL3
GH02J222301 Enhancer 0.4 ENCODE 0.7 +2.9 2930 0.2 SUZ12 EZH2 FARSB CCDC140 LOC440934 PAX3
GH02J222269 Enhancer 0.8 UCNEbase ENCODE 0.3 -28.9 -28901 0.3 NANOG HLF EZH2 CCDC140 GC02P222238 PAX3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC140 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC140 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alphaA

Genomic Locations for CCDC140 Gene

Genomic Locations for CCDC140 Gene
7,071 bases
Plus strand
7,071 bases
Plus strand

Genomic View for CCDC140 Gene

Genes around CCDC140 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC140 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC140 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC140 Gene

Proteins for CCDC140 Gene

  • Protein details for CCDC140 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 140
    Protein Accession:

    Protein attributes for CCDC140 Gene

    163 amino acids
    Molecular mass:
    18252 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC140 Gene

Post-translational modifications for CCDC140 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC140 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC140 Gene

Domains & Families for CCDC140 Gene

Gene Families for CCDC140 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC140 Gene


Suggested Antigen Peptide Sequences for CCDC140 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC140: view

No data available for UniProtKB/Swiss-Prot for CCDC140 Gene

Function for CCDC140 Gene

Phenotypes From GWAS Catalog for CCDC140 Gene

genes like me logo Genes that share phenotypes with CCDC140: view

Animal Model Products

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 CCDC140 Gene

Localization for CCDC140 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 CCDC140 gene
Compartment Confidence
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCDC140 Gene

Pathways & Interactions for CCDC140 Gene

SuperPathways for CCDC140 Gene

No Data Available

Interacting Proteins for CCDC140 Gene

Gene Ontology (GO) - Biological Process for CCDC140 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC140 Gene

Drugs & Compounds for CCDC140 Gene

No Compound Related Data Available

Transcripts for CCDC140 Gene

mRNA/cDNA for CCDC140 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC140 Gene

Coiled-coil domain containing 140:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC140 Gene

No ASD Table

Relevant External Links for CCDC140 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC140 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC140 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC140 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.4), Minor Salivary Gland (x7.4), Muscle - Skeletal (x6.8), and Brain - Cerebellum (x5.6).

Protein differential expression in normal tissues from HIPED for CCDC140 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC140 Gene

Protein tissue co-expression partners for CCDC140 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC140 Gene:


SOURCE GeneReport for Unigene cluster for CCDC140 Gene:

genes like me logo Genes that share expression patterns with CCDC140: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC140 Gene

Orthologs for CCDC140 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for CCDC140 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC140 34 33
  • 99.59 (n)
Species where no ortholog for CCDC140 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CCDC140 Gene

Gene Tree for CCDC140 (if available)
Gene Tree for CCDC140 (if available)
Evolutionary constrained regions (ECRs) for CCDC140: view image

Paralogs for CCDC140 Gene

No data available for Paralogs for CCDC140 Gene

Variants for CCDC140 Gene

Sequence variations from dbSNP and Humsavar for CCDC140 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs104893650 pathogenic, Waardenburg syndrome type 1 222,297,150(+) G/A upstream_transcript_variant
rs104893651 pathogenic, Klein-Waardenberg's syndrome, Waardenburg syndrome type 1 222,297,048(+) G/A upstream_transcript_variant
rs104893652 pathogenic, Craniofacial deafness hand syndrome 222,297,158(+) G/C upstream_transcript_variant
rs104893653 pathogenic, Klein-Waardenberg's syndrome 222,297,160(+) T/G upstream_transcript_variant
rs104893654 pathogenic, Klein-Waardenberg's syndrome 222,297,031(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC140 Gene

Variant ID Type Subtype PubMed ID
nsv834550 CNV gain 17160897

Variation tolerance for CCDC140 Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC140 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC140 Gene

Disorders for CCDC140 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC140 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC140

genes like me logo Genes that share disorders with CCDC140: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC140 Gene

Publications for CCDC140 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58
  4. Coiled coil domains: stability, specificity, and biological implications. (PMID: 14760737) Mason JM … Arndt KM (Chembiochem : a European journal of chemical biology 2004) 3 58
  5. 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) 4 58

Products for CCDC140 Gene

Sources for CCDC140 Gene

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