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Aliases for CCDC103 Gene

Aliases for CCDC103 Gene

  • Coiled-Coil Domain Containing 103 2 3 5
  • 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 kartagener syndrome. 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.

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

Genomics for CCDC103 Gene

Regulatory Elements for CCDC103 Gene

Promoters for CCDC103 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCDC103 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCDC103 Gene

Chromosome:
17
Start:
44,899,142 bp from pter
End:
44,905,390 bp from pter
Size:
6,249 bases
Orientation:
Plus strand

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

Proteomics data for CCDC103 Gene at MOPED

Post-translational modifications for CCDC103 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC103 Gene

Domains & Families for CCDC103 Gene

Protein Domains for CCDC103 Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for CCDC103 Gene

Function for CCDC103 Gene

Molecular function for CCDC103 Gene

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

CRISPR Products

miRNA for CCDC103 Gene

miRTarBase miRNAs that target CCDC103

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CCDC103 Gene

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:0036159 inner dynein arm assembly IGI 22581229
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry IC 22581229
GO:0071907 determination of digestive tract left/right asymmetry IMP 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:

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 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



SOURCE GeneReport for Unigene cluster for CCDC103 Gene Hs.743398

genes like me logo Genes that share expression patterns with CCDC103: view

Protein tissue co-expression partners for CCDC103 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia CCDC103 35
  • 86.95 (n)
  • 83.83 (a)
CCDC103 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC490934 35
  • 85.67 (n)
  • 83.06 (a)
CCDC103 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc103 35
  • 83.57 (n)
  • 80.93 (a)
Ccdc103 16
Ccdc103 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC103 35
  • 99.59 (n)
  • 99.17 (a)
CCDC103 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc103 35
  • 81.24 (n)
  • 80 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC103 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC103 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC103 35
  • 59.46 (n)
  • 59.3 (a)
CCDC103 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC103 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc103 35
  • 54.33 (n)
  • 47.6 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc103 35
  • 52.17 (n)
  • 49.5 (a)
ccdc103 36
  • 44 (a)
OneToOne
Species with no ortholog for CCDC103:
  • 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 Sequence Context AA Info Type
VAR_068449 Ciliary dyskinesia, primary, 17 (CILD17)
rs8079308 -- 44,902,821(+) GATGC(A/C/G)GCAAG utr-variant-3-prime
rs8079610 -- 44,902,302(+) CCCTC(A/C)CTGTC intron-variant
rs9904512 -- 44,903,736(+) TCATC(C/T)AGAGG downstream-variant-500B
rs10451269 -- 44,902,543(+) ACTGG(C/T)TGATC reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv833457 CNV Loss 17160897
nsv527788 CNV Loss 19592680

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)

Relevant External Links for CCDC103 Gene

HapMap Linkage Disequilibrium report
CCDC103
Human Gene Mutation Database (HGMD)
CCDC103

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

Disorders for CCDC103 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CCDC103 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- 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.

Relevant External Links for CCDC103

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.R. … Drummond I.A. (Nat. Genet. 2012) 2 3 4 67
  2. A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. (PMID: 26123568) Casey J.P. … Lynch S.A. (BMC Med. Genet. 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for CCDC103 Gene

Sources for CCDC103 Gene

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