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Aliases for CCDC120 Gene

Aliases for CCDC120 Gene

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

External Ids for CCDC120 Gene

Previous GeneCards Identifiers for CCDC120 Gene

  • GC0XP048803
  • GC0XP048916
  • GC0XP046573

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. An important paralog of this gene is FRMD4B.

UniProtKB/Swiss-Prot for CCDC120 Gene

  • Required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC120 Gene

Genomics for CCDC120 Gene

Regulatory Elements for CCDC120 Gene

Enhancers for CCDC120 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF049071 1 ENCODE 10.9 +19.9 19920 3.7 PKNOX1 SIN3A ETS1 YY1 GLIS2 ZNF143 KLF7 SP3 YY2 ZNF518A CCDC120 GPKOW TFE3 PRAF2 GC0XP049093
GH0XF048736 1.1 ENCODE 9.9 -316.1 -316079 2.4 HDGF ATF1 PKNOX1 CREB3L1 ARID4B DMAP1 BRCA1 ZNF2 GTF3C2 GLIS2 ENSG00000204620 PRICKLE3 ENSG00000270012 ZNF81 PLP2 PRAF2 CCDC120 PQBP1 ENSG00000232828 PIR45163
GH0XF048834 0.9 ENCODE 10.7 -218.3 -218252 2.3 TBP ZNF133 INSM2 ARID4B GLI4 THRB ZNF2 RAD21 ZEB1 ZNF155 ZNF81 ENSG00000204620 ENSG00000270012 ZNF182 CCDC120 PCSK1N GRIPAP1 ERAS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC120 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC120 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000160642 369 1600 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS CEBPZ

Genomic Location for CCDC120 Gene

Chromosome:
X
Start:
49,053,432 bp from pter
End:
49,069,858 bp from pter
Size:
16,427 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:
    • 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

Protein Domains for CCDC120 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC120: view

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

Function for CCDC120 Gene

Molecular function for CCDC120 Gene

UniProtKB/Swiss-Prot Function:
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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. Cell projection. Cell projection, growth cone. Endosome. Note=In differentiating neuroblastoma cells, colocalizes with CYTH2 in both neurite shaft and growth cone areas. Partially colocalizes with endosomes along neurites in differentiating neuroblastoma cells. {ECO:0000269 PubMed:25326380}.

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
nucleus 3
endosome 3
mitochondrion 2
cytosol 1

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:0030426 growth cone IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CCDC120: view

Pathways & Interactions for CCDC120 Gene

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 --
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

Transcripts for CCDC120 Gene

Unigene Clusters for CCDC120 Gene

Coiled-coil domain containing 120:
Representative Sequences:

Flow Cytometry 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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of CCDC120 Gene:

CCDC120

SOURCE GeneReport for Unigene cluster for CCDC120 Gene:

Hs.522643
genes like me logo Genes that share expression patterns with CCDC120: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia CCDC120 34 35
  • 91.03 (n)
cow
(Bos Taurus)
Mammalia CCDC120 34 35
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc120 34
  • 86.47 (n)
mouse
(Mus musculus)
Mammalia Ccdc120 34 16 35
  • 85.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC120 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC120 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC120 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccdc120 34 35
  • 55.01 (n)
CCDC120 (1 of 2) 35
  • 32 (a)
OneToMany
Species where no ortholog for CCDC120 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)
  • 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)
  • 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)

Paralogs for CCDC120 Gene

Paralogs for CCDC120 Gene

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

genes like me logo Genes that share paralogs with CCDC120: view

Variants for CCDC120 Gene

Sequence variations from dbSNP and Humsavar for CCDC120 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs111259340 -- 49,069,887(+) ACCTT(-/G)AGGAC downstream-variant-500B
rs111295793 -- 49,051,870(+) CAAGC(A/T)ATTCT upstream-variant-2KB
rs111830292 -- 49,062,944(+) AATCC(C/T)AGCAC intron-variant
rs111889916 -- 49,063,742(+) TCGTG(C/T)GTGGT intron-variant
rs112368047 -- 49,068,496(+) TTCTT(C/G)TTGTC intron-variant, utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for CCDC120

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC120

No disorders were found for CCDC120 Gene.

No data available for MalaCards , 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. (J. Biol. Chem. 2014) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3 64
  5. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. (PMID: 25184681) Hill S.J. … Livingston D.M. (Genes Dev. 2014) 3 64

Products for CCDC120 Gene

Sources for CCDC120 Gene

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