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Aliases for CCDC184 Gene

Aliases for CCDC184 Gene

  • Coiled-Coil Domain Containing 184 2 3 5
  • C12orf68 3 4
  • Coiled-Coil Domain-Containing Protein 184 3
  • Chromosome 12 Open Reading Frame 68 2

External Ids for CCDC184 Gene

Previous HGNC Symbols for CCDC184 Gene

  • C12orf68

Previous GeneCards Identifiers for CCDC184 Gene

  • GC12P048578

Summaries for CCDC184 Gene

GeneCards Summary for CCDC184 Gene

CCDC184 (Coiled-Coil Domain Containing 184) is a Protein Coding gene.

Additional gene information for CCDC184 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 CCDC184 Gene

Genomics for CCDC184 Gene

GeneHancer (GH) Regulatory Elements for CCDC184 Gene

Promoters and enhancers for CCDC184 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I048182 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 -0.1 -93 1.6 HDAC1 PKNOX1 ATF1 SIN3A FEZF1 BMI1 ZBTB40 RFX5 ZNF335 GLIS2 CCDC184 RPL37P19 LOC102725258 ZNF641 ASB8
GH12I048185 Enhancer 0.5 ENCODE 550.8 +1.8 1800 0 POLR2A EBF1 ZBTB20 EZH2 CCDC184 ENSG00000279875
GH12I048187 Enhancer 0.5 ENCODE 550.8 +1.7 1720 0.1 POLR2A EBF1 ZBTB20 EZH2 CCDC184 ENSG00000279875
GH12I048184 Enhancer 0.4 ENCODE 550.8 +0.8 790 0.2 MXI1 SUZ12 EZH2 CCDC184 ENSG00000279875
GH12I048865 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.5 +682.6 682647 2.2 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 RND1 DDX23 KMT2D KANSL2 LOC390314 CCNT1 LMBR1L SENP1 BCDIN3D PRPF40B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC184 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CCDC184 Gene

Genomic Locations for CCDC184 Gene
chr12:48,183,583-48,185,926
(GRCh38/hg38)
Size:
2,344 bases
Orientation:
Plus strand
chr12:48,577,366-48,579,709
(GRCh37/hg19)

Genomic View for CCDC184 Gene

Genes around CCDC184 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC184 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC184 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC184 Gene

Proteins for CCDC184 Gene

  • Protein details for CCDC184 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q52MB2-CC184_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 184
    Protein Accession:
    Q52MB2
    Secondary Accessions:
    • Q96MK5
    • Q96N39

    Protein attributes for CCDC184 Gene

    Size:
    194 amino acids
    Molecular mass:
    20484 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC184 Gene

Post-translational modifications for CCDC184 Gene

No Post-translational modifications

Other Protein References for CCDC184 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC184 Gene

Domains & Families for CCDC184 Gene

Gene Families for CCDC184 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC184 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC184: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CCDC184 Gene

Function for CCDC184 Gene

Phenotypes From GWAS Catalog for CCDC184 Gene

Gene Ontology (GO) - Molecular Function for CCDC184 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC184: view
genes like me logo Genes that share phenotypes with CCDC184: view

miRNA for CCDC184 Gene

miRTarBase miRNAs that target CCDC184

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC184 Gene

Localization for CCDC184 Gene

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 CCDC184 gene
Compartment Confidence
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC184 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with CCDC184: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC184 Gene

Pathways & Interactions for CCDC184 Gene

SuperPathways for CCDC184 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC184 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC184 Gene

Drugs & Compounds for CCDC184 Gene

No Compound Related Data Available

Transcripts for CCDC184 Gene

mRNA/cDNA for CCDC184 Gene

(1) REFSEQ mRNAs :
(51) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC184 Gene

No ASD Table

Relevant External Links for CCDC184 Gene

GeneLoc Exon Structure for
CCDC184
ECgene alternative splicing isoforms for
CCDC184

Expression for CCDC184 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC184 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC184 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.3), Brain - Cortex (x5.2), Brain - Anterior cingulate cortex (BA24) (x4.6), and Brain - Hypothalamus (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of CCDC184 Gene:

CCDC184

Evidence on tissue expression from TISSUES for CCDC184 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with CCDC184: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC184 Gene

Orthologs for CCDC184 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CCDC184 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf68 33
  • 99.48 (n)
C12orf68 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C27H12orf68 33
  • 92.1 (n)
C12ORF68 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf68 33 34
  • 91.92 (n)
rat
(Rattus norvegicus)
Mammalia MGC114464 33
  • 89.93 (n)
mouse
(Mus musculus)
Mammalia AI836003 33 34
  • 89.18 (n)
Ccdc184 16
oppossum
(Monodelphis domestica)
Mammalia C12orf68 34
  • 73 (a)
OneToOne
Species where no ortholog for CCDC184 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CCDC184 Gene

ENSEMBL:
Gene Tree for CCDC184 (if available)
TreeFam:
Gene Tree for CCDC184 (if available)

Paralogs for CCDC184 Gene

No data available for Paralogs for CCDC184 Gene

Variants for CCDC184 Gene

Sequence variations from dbSNP and Humsavar for CCDC184 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000136997 -- 48,181,801(+) T/G upstream_transcript_variant
rs1000355105 -- 48,184,231(+) A/G coding_sequence_variant, missense_variant
rs1000447061 -- 48,183,362(+) G/A upstream_transcript_variant
rs1001380504 -- 48,184,773(+) G/A 3_prime_UTR_variant
rs1002443873 -- 48,185,867(+) G/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC184 Gene

Variant ID Type Subtype PubMed ID
esv2759898 CNV gain+loss 17122850
esv33956 CNV loss 17666407
esv34439 CNV gain 17911159
esv3629429 CNV gain 21293372
nsv8971 CNV gain+loss 18304495

Variation tolerance for CCDC184 Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC184 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC184

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC184 Gene

Disorders for CCDC184 Gene

Additional Disease Information for CCDC184

No disorders were found for CCDC184 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC184 Gene

Publications for CCDC184 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. 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 58
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 58
  5. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A … Wiemann S (Nucleic acids research 2006) 3 58

Products for CCDC184 Gene

Sources for CCDC184 Gene

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