This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012] See more...

Aliases for CCDC120 Gene

Aliases for CCDC120 Gene

  • Coiled-Coil Domain Containing 120 2 3 5
  • Coiled-Coil Domain-Containing Protein 120 3 4
  • JM11 2 3
  • CCDC120 5

External Ids for CCDC120 Gene

Previous GeneCards Identifiers for CCDC120 Gene

  • GC0XP048803
  • GC0XP048916
  • GC0XP046573
  • GC0XP049081

Summaries for CCDC120 Gene

Entrez Gene Summary for CCDC120 Gene

  • This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for CCDC120 Gene

CCDC120 (Coiled-Coil Domain Containing 120) is a Protein Coding gene. Diseases associated with CCDC120 include Seckel Syndrome 7 and Orofaciodigital Syndrome Ix. An important paralog of this gene is INAVA.

UniProtKB/Swiss-Prot Summary for CCDC120 Gene

  • Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.

Additional gene information for CCDC120 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC120 Gene

Genomics for CCDC120 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC120 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 CCDC120 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC120

Top Transcription factor binding sites by QIAGEN in the CCDC120 gene promoter:
  • ATF-2
  • c-Jun
  • c-Myc
  • CREB
  • HOXA3
  • Max
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CCDC120 Gene

Genomic Locations for CCDC120 Gene
chrX:49,053,572-49,069,858
(GRCh38/hg38)
Size:
16,287 bases
Orientation:
Plus strand
chrX:48,911,101-48,927,510
(GRCh37/hg19)
Size:
16,410 bases
Orientation:
Plus strand

Genomic View for CCDC120 Gene

Genes around CCDC120 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC120 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC120 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC120 Gene

Proteins for CCDC120 Gene

  • Protein details for CCDC120 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HB5-CC120_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 120
    Protein Accession:
    Q96HB5
    Secondary Accessions:
    • A8K5Q5
    • B4DF24
    • B4DFC1
    • B4DTU2
    • F5GZU4

    Protein attributes for CCDC120 Gene

    Size:
    630 amino acids
    Molecular mass:
    67567 Da
    Quaternary structure:
    • Interacts with NIN and CEP170; leading to recruit them to centrosomes (PubMed:28422092). Directly interacts with CYTH2; this interaction stabilizes CCDC120, possibly by preventing ubiquitination.

    Alternative splice isoforms for CCDC120 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC120 Gene

Post-translational modifications for CCDC120 Gene

  • Ubiquitinated; interaction with CYTH2 may prevent ubiquitination.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC120 Gene

Domains & Families for CCDC120 Gene

Gene Families for CCDC120 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for CCDC120 Gene

InterPro:
Blocks:
  • Protein kinase PKN/PRK1, effector
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC120 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79486, weakly similar to FERM domain-containing protein 4B (A8K5Q5_HUMAN)
  • cDNA FLJ53195, weakly similar to FERM domain-containing protein 4B (B4DTU2_HUMAN)
  • Coiled-coil domain-containing protein 120 (CC120_HUMAN)
genes like me logo Genes that share domains with CCDC120: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC120 Gene

Function for CCDC120 Gene

Molecular function for CCDC120 Gene

UniProtKB/Swiss-Prot Function:
Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.

Gene Ontology (GO) - Molecular Function for CCDC120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CCDC120: view
genes like me logo Genes that share phenotypes with CCDC120: view

Animal Models for CCDC120 Gene

MGI Knock Outs for CCDC120:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC120

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC120 Gene

Localization for CCDC120 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC120 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm. Cell projection, neuron projection. Cell projection, growth cone. Endosome. Note=Localizes to the subdistal appendages of mother centrioles and proximal ends of both centrioles in interphase cells (PubMed:28422092). Recruited to subdistal appendages by ODF2 (PubMed:28422092). In differentiating neuroblastoma cells, colocalizes with CYTH2 in both neurite shaft and growth cone areas (PubMed:25326380). Partially colocalizes with endosomes along neurites in differentiating neuroblastoma cells (PubMed:25326380). {ECO:0000269 PubMed:25326380, ECO:0000269 PubMed:28422092}.

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 CCDC120 gene
Compartment Confidence
cytoskeleton 4
endosome 3
mitochondrion 2
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005814 centriole IDA 28422092
GO:0005856 cytoskeleton IEA --
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with CCDC120: view

Pathways & Interactions for CCDC120 Gene

PathCards logo

SuperPathways for CCDC120 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0008104 protein localization IMP 28422092
GO:0034454 microtubule anchoring at centrosome IMP 28422092
genes like me logo Genes that share ontologies with CCDC120: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC120 Gene

Drugs & Compounds for CCDC120 Gene

No Compound Related Data Available

Transcripts for CCDC120 Gene

mRNA/cDNA for CCDC120 Gene

6 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 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 CCDC120

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC120 Gene

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

Relevant External Links for CCDC120 Gene

GeneLoc Exon Structure for
CCDC120

Expression for CCDC120 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC120 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC120 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.3) and Skin - Sun Exposed (Lower leg) (x4.3).

Protein differential expression in normal tissues from HIPED for CCDC120 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.3), Heart (24.8), and Placenta (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC120 Gene



Protein tissue co-expression partners for CCDC120 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC120

SOURCE GeneReport for Unigene cluster for CCDC120 Gene:

Hs.522643

Evidence on tissue expression from TISSUES for CCDC120 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CCDC120: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC120 Gene

Orthologs for CCDC120 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC120 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC120 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC120 30 31
  • 91.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC120 30 31
  • 89.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc120 30
  • 86.47 (n)
Mouse
(Mus musculus)
Mammalia Ccdc120 30 17 31
  • 85.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC120 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC120 31
  • 58 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC120 31
  • 49 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ccdc120 30 31
  • 55.01 (n)
OneToMany
CCDC120 (1 of 2) 31
  • 32 (a)
OneToMany
Species where no ortholog for CCDC120 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)
  • Chicken (Gallus gallus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCDC120 Gene

ENSEMBL:
Gene Tree for CCDC120 (if available)
TreeFam:
Gene Tree for CCDC120 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC120: view image

Paralogs for CCDC120 Gene

Paralogs for CCDC120 Gene

(1) SIMAP similar genes for CCDC120 Gene using alignment to 3 proteins:

  • CC120_HUMAN
  • B4DFC1_HUMAN
  • S4R3T7_HUMAN
genes like me logo Genes that share paralogs with CCDC120: view

Variants for CCDC120 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC120 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs911802103 Uncertain Significance: Short stature 49,067,349(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CCDC120 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC120 Gene

Variant ID Type Subtype PubMed ID
esv24155 CNV gain 19812545
esv32909 CNV gain+loss 17666407
nsv528292 CNV gain 19592680

Variation tolerance for CCDC120 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC120 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC120

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC120 Gene

Disorders for CCDC120 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CCDC120 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
seckel syndrome 7
  • sckl7
orofaciodigital syndrome ix
  • ofd9
cone-rod dystrophy 20
  • cord20
differentiating neuroblastoma
fetal erythroblastosis
  • ef - erythroblastosis foetalis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC120: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC120 Gene

Publications for CCDC120 Gene

  1. Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth. (PMID: 25326380) Torii T … Yamauchi J (The Journal of biological chemistry 2014) 2 3 4
  2. Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68. (PMID: 28422092) Huang N … Chen J (Nature communications 2017) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CCDC120 Gene

Sources for CCDC120 Gene