Aliases for CCDC125 Gene

Aliases for CCDC125 Gene

  • Coiled-Coil Domain Containing 125 2 3 5
  • KENAE 2 3 4
  • Coiled-Coil Domain-Containing Protein 125 3 4
  • Protein Kenae 4
  • CCDC125 5
  • Kenae 3

External Ids for CCDC125 Gene

Previous GeneCards Identifiers for CCDC125 Gene

  • GC05M068613
  • GC05M068576
  • GC05M065532

Summaries for CCDC125 Gene

GeneCards Summary for CCDC125 Gene

CCDC125 (Coiled-Coil Domain Containing 125) is a Protein Coding gene. Diseases associated with CCDC125 include Retinitis Pigmentosa 19.

UniProtKB/Swiss-Prot Summary for CCDC125 Gene

Additional gene information for CCDC125 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC125 Gene

Genomics for CCDC125 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC125 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC125 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC125

Top Transcription factor binding sites by QIAGEN in the CCDC125 gene promoter:
  • AP-1
  • c-Myc
  • GCNF
  • GCNF-1
  • GCNF-2
  • Max
  • N-Myc
  • Pax-5
  • POU6F1 (c2)
  • SEF-1 (1)

Genomic Locations for CCDC125 Gene

Genomic Locations for CCDC125 Gene
chr5:69,273,087-69,333,070
(GRCh38/hg38)
Size:
59,984 bases
Orientation:
Minus strand
chr5:68,576,002-68,628,636
(GRCh37/hg19)
Size:
52,635 bases
Orientation:
Minus strand

Genomic View for CCDC125 Gene

Genes around CCDC125 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC125 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC125 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC125 Gene

Proteins for CCDC125 Gene

  • Protein details for CCDC125 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Z20-CC125_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 125
    Protein Accession:
    Q86Z20
    Secondary Accessions:
    • Q86Z19

    Protein attributes for CCDC125 Gene

    Size:
    511 amino acids
    Molecular mass:
    58629 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC125 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC125 Gene

Post-translational modifications for CCDC125 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC125 Gene

Domains & Families for CCDC125 Gene

Gene Families for CCDC125 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC125 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC125 Gene

GenScript: Design optimal peptide antigens:
  • Protein kenae (CC125_HUMAN)
  • CCDC125 protein (Q2HJ12_HUMAN)
genes like me logo Genes that share domains with CCDC125: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC125 Gene

Function for CCDC125 Gene

Molecular function for CCDC125 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the regulation of cell migration.

Phenotypes From GWAS Catalog for CCDC125 Gene

Gene Ontology (GO) - Molecular Function for CCDC125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CCDC125: view
genes like me logo Genes that share phenotypes with CCDC125: view

Animal Model Products

CRISPR Products

miRNA for CCDC125 Gene

miRTarBase miRNAs that target CCDC125

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC125

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC125 Gene

Localization for CCDC125 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC125 Gene

Cytoplasm.

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 CCDC125 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (1)
  • Nuclear membrane (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 19787194
genes like me logo Genes that share ontologies with CCDC125: view

Pathways & Interactions for CCDC125 Gene

PathCards logo

SuperPathways for CCDC125 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035024 negative regulation of Rho protein signal transduction IBA,IDA 19787194
GO:0090630 activation of GTPase activity IDA 19787194
GO:2000145 regulation of cell motility IEA --
GO:2000146 negative regulation of cell motility IBA,IDA 19787194
genes like me logo Genes that share ontologies with CCDC125: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC125 Gene

Drugs & Compounds for CCDC125 Gene

No Compound Related Data Available

Transcripts for CCDC125 Gene

mRNA/cDNA for CCDC125 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC125

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC125 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: -
SP2: -
SP3:
SP4: - -

Relevant External Links for CCDC125 Gene

GeneLoc Exon Structure for
CCDC125

Expression for CCDC125 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC125 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC125 Gene

This gene is overexpressed in Plasma (28.7), Fetal heart (15.2), Stomach (11.4), and Breast (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC125 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC125

SOURCE GeneReport for Unigene cluster for CCDC125 Gene:

Hs.654850

Evidence on tissue expression from TISSUES for CCDC125 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CCDC125: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC125 Gene

Orthologs for CCDC125 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC125 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC125 30 31
  • 99.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC125 30 31
  • 85.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC125 30 31
  • 82.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc125 30 17 31
  • 79.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc125 30
  • 78.35 (n)
Oppossum
(Monodelphis domestica)
Mammalia CCDC125 31
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC125 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC125 30 31
  • 65.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC125 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc125 30
  • 62.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc125 30 31
  • 54.42 (n)
OneToOne
Species where no ortholog for CCDC125 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 CCDC125 Gene

ENSEMBL:
Gene Tree for CCDC125 (if available)
TreeFam:
Gene Tree for CCDC125 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC125: view image

Paralogs for CCDC125 Gene

No data available for Paralogs for CCDC125 Gene

Variants for CCDC125 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC125 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs10471774 - p.Val13Met

Additional dbSNP identifiers (rs#s) for CCDC125 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC125 Gene

Variant ID Type Subtype PubMed ID
dgv5694n100 CNV gain 25217958
esv3575855 CNV gain 25503493
esv3605380 CNV gain 21293372
esv3605381 CNV gain 21293372
nsv821643 CNV loss 15273396
nsv968921 CNV duplication 23825009

Variation tolerance for CCDC125 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.16; 90.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC125 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC125

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC125 Gene

Disorders for CCDC125 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC125 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 19
  • rp19
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC125: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC125 Gene

Publications for CCDC125 Gene

  1. Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase. (PMID: 19787194) Araya N … Nakajima T (International journal of molecular medicine 2009) 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4

Products for CCDC125 Gene

Sources for CCDC125 Gene