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Aliases for CCDC12 Gene

Aliases for CCDC12 Gene

  • Coiled-Coil Domain Containing 12 2 3 5
  • Coiled-Coil Domain-Containing Protein 12 3

External Ids for CCDC12 Gene

Summaries for CCDC12 Gene

GeneCards Summary for CCDC12 Gene

CCDC12 (Coiled-Coil Domain Containing 12) is a Protein Coding gene. Diseases associated with CCDC12 include Gray Platelet Syndrome. Among its related pathways are mRNA Splicing - Major Pathway.

Additional gene information for CCDC12 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 CCDC12 Gene

Genomics for CCDC12 Gene

GeneHancer (GH) Regulatory Elements for CCDC12 Gene

Promoters and enhancers for CCDC12 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
GH03J047379 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 38.1 -398.7 -398671 3.3 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PTPN23 ENSG00000260236 SETD2 ZNF589 NME6 CCDC12 MRPS18AP1 BOLA2P2 SCAP DHX30
GH03J046973 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 38.6 +3.6 3593 9.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B NBEAL2 CCDC12 SETD2 PTPN23 SCAP XCR1 BOLA2P2 FYCO1 SMARCC1 PTH1R
GH03J046984 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 27.8 -6.1 -6129 7.6 HDGF PKNOX1 SMAD1 ARNT POLR2B CBX5 E2F8 ZNF207 ZNF143 REST SETD2 PTPN23 CCDC12 BOLA2P2 NBEAL2 SCAP SMARCC1 XCR1 PTH1R KLHL18
GH03J047161 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.1 -182.1 -182070 4.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 SETD2 KIF9-AS1 PTPN23 BOLA2P2 DHX30 CCDC12 SCAP NBEAL2 PTH1R
GH03J047511 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.9 -530.8 -530836 2.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ELP6 NME6 SETD2 MRPS18AP1 ZNF589 PTPN23 ATRIP CCDC12 BOLA2P2 NBEAL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC12 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • NF-1
  • CP2
  • c-Ets-1
  • ZID
  • Nkx2-5
  • Lmo2
  • CREB
  • HOXA5

Genomic Locations for CCDC12 Gene

Genomic Locations for CCDC12 Gene
chr3:46,921,726-46,982,018
(GRCh38/hg38)
Size:
60,293 bases
Orientation:
Minus strand
chr3:46,963,216-47,023,500
(GRCh37/hg19)
Size:
60,285 bases
Orientation:
Minus strand

Genomic View for CCDC12 Gene

Genes around CCDC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC12 Gene

Proteins for CCDC12 Gene

  • Protein details for CCDC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUD4-CCD12_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 12
    Protein Accession:
    Q8WUD4
    Secondary Accessions:
    • Q8N8I4

    Protein attributes for CCDC12 Gene

    Size:
    166 amino acids
    Molecular mass:
    19181 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC12 Gene

Post-translational modifications for CCDC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC12 Gene

Domains & Families for CCDC12 Gene

Protein Domains for CCDC12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC12: view

No data available for UniProtKB/Swiss-Prot for CCDC12 Gene

Function for CCDC12 Gene

Phenotypes From GWAS Catalog for CCDC12 Gene

Gene Ontology (GO) - Molecular Function for CCDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004814 arginine-tRNA ligase activity IEA --
GO:0005515 protein binding IPI 22365833
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CCDC12: view
genes like me logo Genes that share phenotypes with CCDC12: view

Animal Model Products

miRNA for CCDC12 Gene

miRTarBase miRNAs that target CCDC12

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC12 Gene

Localization for CCDC12 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 CCDC12 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CCDC12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC12 Gene

Pathways & Interactions for CCDC12 Gene

SuperPathways for CCDC12 Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with CCDC12: view

Pathways by source for CCDC12 Gene

1 KEGG pathway for CCDC12 Gene

Gene Ontology (GO) - Biological Process for CCDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006420 arginyl-tRNA aminoacylation IEA --
genes like me logo Genes that share ontologies with CCDC12: view

No data available for SIGNOR curated interactions for CCDC12 Gene

Drugs & Compounds for CCDC12 Gene

No Compound Related Data Available

Transcripts for CCDC12 Gene

Unigene Clusters for CCDC12 Gene

Coiled-coil domain containing 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC12 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8: - - - - -

Relevant External Links for CCDC12 Gene

GeneLoc Exon Structure for
CCDC12
ECgene alternative splicing isoforms for
CCDC12

Expression for CCDC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC12 Gene

Protein differential expression in normal tissues from HIPED for CCDC12 Gene

This gene is overexpressed in NK cells (7.2) and Blymphocyte (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC12 Gene



Protein tissue co-expression partners for CCDC12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC12 Gene:

CCDC12

SOURCE GeneReport for Unigene cluster for CCDC12 Gene:

Hs.692157
genes like me logo Genes that share expression patterns with CCDC12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC12 Gene

Orthologs for CCDC12 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC12 34 33
  • 99.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC12 34 33
  • 91.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc12 16 34 33
  • 87.95 (n)
cow
(Bos Taurus)
Mammalia CCDC12 34 33
  • 87.95 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc12 33
  • 85.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC12 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC12 34 33
  • 71.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC12 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc12 33
  • 70.11 (n)
Str.6452 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14414 33
zebrafish
(Danio rerio)
Actinopterygii ccdc12 34 33
  • 65.77 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10671 33
fruit fly
(Drosophila melanogaster)
Insecta CG15525 34 33
  • 53.9 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004668 33
  • 53.29 (n)
worm
(Caenorhabditis elegans)
Secernentea Y69A2AR.21 34
  • 37 (a)
OneToOne
Species where no ortholog for CCDC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)

Evolution for CCDC12 Gene

ENSEMBL:
Gene Tree for CCDC12 (if available)
TreeFam:
Gene Tree for CCDC12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC12: view image

Paralogs for CCDC12 Gene

Pseudogenes.org Pseudogenes for CCDC12 Gene

genes like me logo Genes that share paralogs with CCDC12: view

No data available for Paralogs for CCDC12 Gene

Variants for CCDC12 Gene

Sequence variations from dbSNP and Humsavar for CCDC12 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs764010884 uncertain-significance, Gray platelet syndrome 46,979,843(-) GCCGGAGCCGG/GCCGGAGCCGGAGCCGG genic_upstream_transcript_variant, intron_variant
rs886058587 uncertain-significance, Gray platelet syndrome 46,979,700(-) C/T genic_upstream_transcript_variant, intron_variant
rs886058588 uncertain-significance, Gray platelet syndrome 46,979,786(-) G/A genic_upstream_transcript_variant, intron_variant
rs886058590 uncertain-significance, Gray platelet syndrome 46,979,923(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000046086 -- 46,962,451(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC12 Gene

Variant ID Type Subtype PubMed ID
esv25200 CNV loss 19812545
esv2657344 CNV deletion 23128226
esv2759147 CNV loss 17122850
esv3596071 CNV loss 21293372
esv3596072 CNV loss 21293372
esv3596073 CNV loss 21293372
esv3596074 CNV loss 21293372
nsv1109511 CNV deletion 24896259
nsv1123644 CNV deletion 24896259
nsv3800 CNV deletion 18451855
nsv428417 CNV loss 18775914
nsv460526 CNV loss 19166990
nsv473516 CNV novel sequence insertion 20440878
nsv590208 CNV loss 21841781
nsv590209 CNV loss 21841781
nsv954479 CNV deletion 24416366

Variation tolerance for CCDC12 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC12 Gene

Disorders for CCDC12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC12 Gene - From: GeneCards

Disorder Aliases PubMed IDs
gray platelet syndrome
  • gps
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC12

genes like me logo Genes that share disorders with CCDC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC12 Gene

Publications for CCDC12 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. 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 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for CCDC12 Gene

Sources for CCDC12 Gene

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