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Aliases for CCDC103 Gene

Aliases for CCDC103 Gene

  • Coiled-Coil Domain Containing 103 2 3 5
  • Coiled-Coil Domain-Containing Protein 103 3
  • CILD17 3
  • PR46b 3
  • SMH 3

External Ids for CCDC103 Gene

Previous GeneCards Identifiers for CCDC103 Gene

  • GC17P040333
  • GC17P042978
  • GC17P038742

Summaries for CCDC103 Gene

Entrez Gene Summary for CCDC103 Gene

  • This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]

GeneCards Summary for CCDC103 Gene

CCDC103 (Coiled-Coil Domain Containing 103) is a Protein Coding gene. Diseases associated with CCDC103 include Ciliary Dyskinesia, Primary, 17 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is FAM187A.

UniProtKB/Swiss-Prot for CCDC103 Gene

  • Dynein-attachment factor required for cilia motility.

Additional gene information for CCDC103 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC103 Gene

Genomics for CCDC103 Gene

GeneHancer (GH) Regulatory Elements for CCDC103 Gene

Promoters and enhancers for CCDC103 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
GH17I044898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.1 1131 4.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EFTUD2 FAM187A CCDC103 GJC1 TMUB2 HEXIM1 ASB16-AS1 ENSG00000267344 PIR50226
GH17I045020 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.6 +122.3 122282 2.5 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF207 ZNF143 ATF7 PAF1 DCAKD NMT1 C1QL1 GFAP CCDC103 EFTUD2 FAM187A KIF18B HEXIM2 ENSG00000224505
GH17I045029 Enhancer 1.1 ENCODE dbSUPER 10.6 +132.0 132018 3.1 PKNOX1 ATF1 FOXA2 ARNT ZNF48 TCF12 GATA2 ATF7 ZNF263 RXRA DCAKD NMT1 KIF18B GFAP C1QL1 HEXIM2 ENSG00000224505 FAM187A EFTUD2 CCDC103
GH17I045006 Enhancer 0.9 FANTOM5 dbSUPER 11.7 +108.0 108013 0.3 CTCF MAZ ZIC2 RAD21 ZFP69B ZFHX2 ZNF692 GLIS1 ZNF341 PATZ1 KIF18B C1QL1 FAM187A EFTUD2 CCDC103 GFAP NMT1 DCAKD GC17M045006 GC17M044982
GH17I044781 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.3 -116.9 -116947 1.7 KLF1 IKZF1 GLIS1 ZNF341 REST GABPA ZNF18 ADAM11 DBF4B GJC1 HIGD1B CCDC103 FAM187A EFTUD2 GFAP MEIOC C1QL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC103 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC103 gene promoter:

Genomic Locations for CCDC103 Gene

Genomic Locations for CCDC103 Gene
chr17:44,899,142-44,905,390
(GRCh38/hg38)
Size:
6,249 bases
Orientation:
Plus strand
chr17:42,976,510-42,982,758
(GRCh37/hg19)

Genomic View for CCDC103 Gene

Genes around CCDC103 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC103 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC103 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC103 Gene

Proteins for CCDC103 Gene

  • Protein details for CCDC103 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW40-CC103_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 103
    Protein Accession:
    Q8IW40
    Secondary Accessions:
    • A8K145
    • B8ZZU0

    Protein attributes for CCDC103 Gene

    Size:
    242 amino acids
    Molecular mass:
    27163 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for CCDC103 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC103 Gene

Post-translational modifications for CCDC103 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CCDC103 Gene

Domains & Families for CCDC103 Gene

Gene Families for CCDC103 Gene

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

Protein Domains for CCDC103 Gene

Suggested Antigen Peptide Sequences for CCDC103 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IW40

UniProtKB/Swiss-Prot:

CC103_HUMAN :
  • Belongs to the CCDC103/PR46b family.
Family:
  • Belongs to the CCDC103/PR46b family.
genes like me logo Genes that share domains with CCDC103: view

Function for CCDC103 Gene

Molecular function for CCDC103 Gene

UniProtKB/Swiss-Prot Function:
Dynein-attachment factor required for cilia motility.

Gene Ontology (GO) - Molecular Function for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity IDA 22581229
genes like me logo Genes that share ontologies with CCDC103: view
genes like me logo Genes that share phenotypes with CCDC103: view

Human Phenotype Ontology for CCDC103 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CCDC103 Gene

miRTarBase miRNAs that target CCDC103

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC103 Gene

Localization for CCDC103 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC103 Gene

Cytoplasm. Cell projection, cilium, flagellum.

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 CCDC103 gene
Compartment Confidence
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IEA 22581229
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS 22581229
GO:0031514 motile cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CCDC103: view

Pathways & Interactions for CCDC103 Gene

SuperPathways for CCDC103 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IMP 22581229
GO:0003341 cilium movement IGI 22581229
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IGI 22581229
GO:0036159 inner dynein arm assembly IGI 22581229
genes like me logo Genes that share ontologies with CCDC103: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC103 Gene

Drugs & Compounds for CCDC103 Gene

No Compound Related Data Available

Transcripts for CCDC103 Gene

Unigene Clusters for CCDC103 Gene

Coiled-coil domain containing 103:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC103 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b
SP1: - -
SP2:
SP3: -
SP4:

Relevant External Links for CCDC103 Gene

GeneLoc Exon Structure for
CCDC103
ECgene alternative splicing isoforms for
CCDC103

Expression for CCDC103 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC103 Gene

Protein differential expression in normal tissues from HIPED for CCDC103 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC103 Gene



Protein tissue co-expression partners for CCDC103 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC103 Gene:

CCDC103

SOURCE GeneReport for Unigene cluster for CCDC103 Gene:

Hs.743398

Evidence on tissue expression from TISSUES for CCDC103 Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC103 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with CCDC103: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCDC103 Gene

Orthologs for CCDC103 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC103 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC103 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia CCDC103 33 34
  • 86.95 (n)
dog
(Canis familiaris)
Mammalia LOC490934 33
  • 85.67 (n)
CCDC103 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc103 33 16 34
  • 83.57 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc103 33
  • 81.24 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC103 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC103 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC103 33 34
  • 59.46 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC103 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc103 33
  • 54.33 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc103 33 34
  • 52.17 (n)
Species where no ortholog for CCDC103 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC103 Gene

ENSEMBL:
Gene Tree for CCDC103 (if available)
TreeFam:
Gene Tree for CCDC103 (if available)

Paralogs for CCDC103 Gene

Paralogs for CCDC103 Gene

genes like me logo Genes that share paralogs with CCDC103: view

Variants for CCDC103 Gene

Sequence variations from dbSNP and Humsavar for CCDC103 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1046079147 uncertain-significance, Primary ciliary dyskinesia 44,903,604(+) C/G/T 3_prime_UTR_variant
rs1060503433 pathogenic, Primary ciliary dyskinesia 44,901,113(+) C/T coding_sequence_variant, stop_gained
rs142342712 uncertain-significance, Primary ciliary dyskinesia 44,901,651(+) C/T coding_sequence_variant, missense_variant
rs144226204 uncertain-significance, Primary ciliary dyskinesia 44,901,080(+) C/G/T coding_sequence_variant, missense_variant
rs144369192 uncertain-significance, Primary ciliary dyskinesia 44,903,606(+) C/A/G/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC103 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv527788 CNV loss 19592680
nsv833457 CNV loss 17160897

Variation tolerance for CCDC103 Gene

Residual Variation Intolerance Score: 51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC103 Gene

Human Gene Mutation Database (HGMD)
CCDC103
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC103

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC103 Gene

Disorders for CCDC103 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CCDC103 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 17
  • cild17
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CC103_HUMAN
  • Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:22581229, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CCDC103

genes like me logo Genes that share disorders with CCDC103: view

No data available for Genatlas for CCDC103 Gene

Publications for CCDC103 Gene

  1. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. (PMID: 22581229) Panizzi JR … Drummond IA (Nature genetics 2012) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for CCDC103 Gene

Sources for CCDC103 Gene

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