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Aliases for CCDC129 Gene

Aliases for CCDC129 Gene

  • Coiled-Coil Domain Containing 129 2 3 5

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. GO annotations related to this gene include receptor binding. An important paralog of this gene is SSFA2.

No data available for Entrez Gene 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

Regulatory Elements for CCDC129 Gene

Enhancers for CCDC129 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CCDC129 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC129 Gene

Chromosome:
7
Start:
31,514,071 bp from pter
End:
31,658,720 bp from pter
Size:
144,650 bases
Orientation:
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:
    Q6ZRS4-CC129_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 129
    Protein Accession:
    Q6ZRS4
    Secondary Accessions:
    • A2RU17
    • B3KTI9
    • B4DHB0
    • B4E2R1
    • F5H3V5

    Protein attributes for CCDC129 Gene

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

    Alternative splice isoforms for CCDC129 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC129 Gene

Proteomics data for CCDC129 Gene at MOPED

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

Protein Domains for CCDC129 Gene

InterPro:
ProtoNet:

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 Gene Families and UniProtKB/Swiss-Prot for CCDC129 Gene

Function for CCDC129 Gene

Phenotypes for CCDC129 Gene

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

Animal Model Products

CRISPR Products

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

Localization for CCDC129 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC129 Gene COMPARTMENTS Subcellular localization image for CCDC129 gene
Compartment Confidence
nucleus 4
cytosol 1

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

None

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

Unigene Clusters for CCDC129 Gene

Coiled-coil domain containing 129:
Representative Sequences:

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
CCDC129
ECgene alternative splicing isoforms for
CCDC129

Expression for CCDC129 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CCDC129 Gene Hs.224269

genes like me logo Genes that share expression patterns with CCDC129: view

Protein tissue co-expression partners for CCDC129 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CCDC129 35
  • 78.34 (n)
  • 65.08 (a)
CCDC129 36
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC129 35
  • 80.14 (n)
  • 67.03 (a)
CCDC129 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc129 35
  • 72.68 (n)
  • 61.38 (a)
Ccdc129 16
Ccdc129 36
  • 55 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC129 35
  • 99.04 (n)
  • 98.08 (a)
CCDC129 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc129 35
  • 72.82 (n)
  • 59.54 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC129 36
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 23 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC129 35
  • 60.52 (n)
  • 50.62 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC129 36
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10580 35
zebrafish
(Danio rerio)
Actinopterygii ccdc129 36
  • 18 (a)
OneToOne
Species with no ortholog for CCDC129:
  • 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

ENSEMBL:
Gene Tree for CCDC129 (if available)
TreeFam:
Gene Tree for CCDC129 (if available)

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 Sequence Context AA Info Type
rs7811042 - 31,553,119(+) GTGGG(A/C)TCCGC nc-transcript-variant, reference, missense
VAR_033661 -
VAR_033662 -
VAR_033663 -
VAR_035496 A colorectal cancer sample

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

Variant ID Type Subtype PubMed ID
nsv436557 CNV Deletion 17901297
esv995660 CNV Deletion 20482838
dgv1096n67 CNV Loss 20364138
nsv819342 CNV Loss 19587683
esv24313 CNV Loss 19812545
esv2670415 CNV Deletion 23128226
dgv166e180 CNV Loss 20482838
esv2752155 CNV Gain 17911159
esv269282 CNV Insertion 20981092
dgv7244n71 CNV Gain 21882294

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)

Relevant External Links for CCDC129 Gene

Human Gene Mutation Database (HGMD)
CCDC129

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC129 Gene

Disorders for CCDC129 Gene

Relevant External Links for CCDC129

Genetic Association Database (GAD)
CCDC129
Human Genome Epidemiology (HuGE) Navigator
CCDC129
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC129

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. (Nat. Genet. 2004) 2 3 4 67
  2. 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
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CCDC129 Gene

Sources for CCDC129 Gene

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