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Aliases for CCDC129 Gene

Aliases for CCDC129 Gene

  • Coiled-Coil Domain Containing 129 2 3 5
  • Coiled-Coil Domain-Containing Protein 129 3

External Ids for CCDC129 Gene

Summaries for CCDC129 Gene

GeneCards Summary for CCDC129 Gene

CCDC129 (Coiled-Coil Domain Containing 129) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is SSFA2.

Additional gene information for CCDC129 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 CCDC129 Gene

Genomics for CCDC129 Gene

GeneHancer (GH) Regulatory Elements for CCDC129 Gene

Promoters and enhancers for CCDC129 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
GH07J031514 Promoter 0.5 EPDnew 650.7 0.0 0 0.1 CCDC129 PPP1R17
GH07J031539 Enhancer 0.5 ENCODE 11.9 +26.6 26590 1.3 SMARCE1 ZNF217 CTBP1 DPF2 FOXA1 CCDC129 PPP1R17
GH07J031526 Enhancer 0.2 ENCODE 9.8 +13.1 13056 1.6 CCDC129 PPP1R17
GH07J031493 Enhancer 0.7 Ensembl ENCODE 0.3 -20.2 -20227 1.6 NANOG POU5F1 CEBPG ETS1 CCDC129 LOC105375224
GH07J031549 Enhancer 0.6 ENCODE 0.3 +35.9 35889 1.4 SMARCE1 RFX1 DPF2 ZBTB40 FOXA1 ZNF217 CTBP1 GATA3 RCOR1 CUX1 CCDC129 PPP1R17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC129 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC129 gene promoter:
  • SRY
  • FOXO4
  • POU3F2
  • FOXL1
  • GCNF
  • GCNF-1
  • GCNF-2
  • AREB6
  • MRF-2
  • Cart-1

Genomic Locations for CCDC129 Gene

Genomic Locations for CCDC129 Gene
144,650 bases
Plus strand
144,631 bases
Plus strand

Genomic View for CCDC129 Gene

Genes around CCDC129 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC129 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC129 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC129 Gene

Proteins for CCDC129 Gene

  • Protein details for CCDC129 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 129
    Protein Accession:
    Secondary Accessions:
    • A2RU17
    • B3KTI9
    • B4DHB0
    • B4E2R1
    • F5H3V5

    Protein attributes for CCDC129 Gene

    1044 amino acids
    Molecular mass:
    115403 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAG65223.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC129 Gene


neXtProt entry for CCDC129 Gene

Post-translational modifications for CCDC129 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC129 Gene

Domains & Families for CCDC129 Gene

Gene Families for CCDC129 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CCDC129 Gene


Suggested Antigen Peptide Sequences for CCDC129 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC129: view

No data available for UniProtKB/Swiss-Prot for CCDC129 Gene

Function for CCDC129 Gene

Phenotypes From GWAS Catalog for CCDC129 Gene

Gene Ontology (GO) - Molecular Function for CCDC129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
genes like me logo Genes that share ontologies with CCDC129: view

Phenotypes for CCDC129 Gene

genes like me logo Genes that share phenotypes with CCDC129: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC129 Gene

Localization for CCDC129 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 CCDC129 gene
Compartment Confidence
nucleus 4
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC129 Gene

Pathways & Interactions for CCDC129 Gene

SuperPathways for CCDC129 Gene

No Data Available

Interacting Proteins for CCDC129 Gene

Gene Ontology (GO) - Biological Process for CCDC129 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC129 Gene

Drugs & Compounds for CCDC129 Gene

No Compound Related Data Available

Transcripts for CCDC129 Gene

mRNA/cDNA for CCDC129 Gene

Unigene Clusters for CCDC129 Gene

Coiled-coil domain containing 129:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC129 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - - -
SP2: -
SP3: - -

Relevant External Links for CCDC129 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC129 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC129 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC129 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.2), Testis (x6.6), Minor Salivary Gland (x6.3), Skin - Not Sun Exposed (Suprapubic) (x5.5), and Brain - Substantia nigra (x5.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC129 Gene

Protein tissue co-expression partners for CCDC129 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC129 Gene:


SOURCE GeneReport for Unigene cluster for CCDC129 Gene:


Evidence on tissue expression from TISSUES for CCDC129 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CCDC129: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC129 Gene

Orthologs for CCDC129 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC129 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC129 34 33
  • 99.04 (n)
(Canis familiaris)
Mammalia CCDC129 34 33
  • 80.14 (n)
(Bos Taurus)
Mammalia CCDC129 34 33
  • 78.34 (n)
(Rattus norvegicus)
Mammalia Ccdc129 33
  • 72.82 (n)
(Mus musculus)
Mammalia Ccdc129 16 34 33
  • 72.68 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
-- 34
  • 23 (a)
(Monodelphis domestica)
Mammalia CCDC129 34
  • 35 (a)
(Gallus gallus)
Aves CCDC129 33
  • 60.52 (n)
(Anolis carolinensis)
Reptilia CCDC129 34
  • 33 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10580 33
(Danio rerio)
Actinopterygii ccdc129 34
  • 18 (a)
Species where no ortholog for CCDC129 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC129 Gene

Gene Tree for CCDC129 (if available)
Gene Tree for CCDC129 (if available)
Evolutionary constrained regions (ECRs) for CCDC129: view image

Paralogs for CCDC129 Gene

Paralogs for CCDC129 Gene

genes like me logo Genes that share paralogs with CCDC129: view

Variants for CCDC129 Gene

Sequence variations from dbSNP and Humsavar for CCDC129 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
VAR_035496 A colorectal cancer sample p.Leu105Val
rs386352287 uncertain-significance, not provided 31,574,563(+) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1000000470 -- 31,588,046(+) T/C/G intron_variant
rs1000031480 -- 31,588,248(+) G/A intron_variant
rs1000049347 -- 31,545,608(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC129 Gene

Variant ID Type Subtype PubMed ID
dgv1096n67 CNV loss 20364138
dgv11264n54 CNV loss 21841781
dgv11265n54 CNV loss 21841781
dgv11266n54 CNV loss 21841781
dgv11267n54 CNV loss 21841781
dgv11268n54 CNV loss 21841781
dgv166e180 CNV loss 20482838
esv1756820 CNV insertion 17803354
esv24313 CNV loss 19812545
esv2448786 CNV insertion 19546169
esv2670415 CNV deletion 23128226
esv2752155 CNV gain 17911159
esv3340915 CNV insertion 20981092
esv3418820 CNV duplication 20981092
esv3431427 CNV duplication 20981092
esv3541423 CNV deletion 23714750
esv3612721 CNV loss 21293372
esv3612723 CNV gain 21293372
esv3612724 CNV gain 21293372
esv3891094 CNV gain 25118596
esv995660 CNV deletion 20482838
nsv1068321 OTHER inversion 25765185
nsv1125425 OTHER inversion 24896259
nsv1133649 CNV deletion 24896259
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv606550 CNV loss 21841781
nsv606560 CNV loss 21841781
nsv819342 CNV loss 19587683

Variation tolerance for CCDC129 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.57; 93.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC129 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 CCDC129 Gene

Disorders for CCDC129 Gene

Additional Disease Information for CCDC129

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CCDC129 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC129 Gene

Publications for CCDC129 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. (PMID: 25854761) Zuo X … Zhang X (Nature communications 2015) 3 58
  4. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. (PMID: 24578207) Opherk C … Dichgans M (Stroke 2014) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for CCDC129 Gene

Sources for CCDC129 Gene

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