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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 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

Enhancers for CCDC103 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
GH17F045006 0.6 FANTOM5 11.7 +108.0 108014 0.3 CTCF ZIC2 RAD21 YY1 ZFHX2 PATZ1 MAZ HLF NFIL3 ZFP69B KIF18B CCDC103 EFTUD2 FAM187A C1QL1 GFAP ENSG00000224911 NMT1 DCAKD GC17M045006
GH17F045020 0.7 Ensembl ENCODE 11.6 +122.3 122283 2.5 ATF1 CREB3L1 ZFP64 ARID4B DMAP1 ZNF48 ZNF143 PAF1 ZNF263 SP5 DCAKD NMT1 C1QL1 GFAP ENSG00000224911 EFTUD2 FAM187A CCDC103 KIF18B HEXIM2
GH17F044781 0.9 Ensembl ENCODE 11.3 -116.9 -116947 1.7 KLF1 ZNF341 GLIS1 GABPB1 FOXP2 REST ZNF18 ADAM11 DBF4B GJC1 HIGD1B CCDC103 EFTUD2 FAM187A ENSG00000224911 GFAP MEIOC
GH17F045029 0.2 ENCODE 10.6 +132.0 132018 3.1 PKNOX1 ATF1 ARNT SIN3A ZNF48 GATA2 ZNF263 SP5 NCOA1 MBD2 DCAKD NMT1 KIF18B GFAP ENSG00000224911 C1QL1 HEXIM2 ENSG00000224505 CCDC103 EFTUD2
GH17F045036 0.2 ENCODE 10.6 +137.6 137606 0.2 TBP SOX13 SAP130 ZMYM3 CEBPG ZIC2 KMT2B NR2F6 MIXL1 SOX5 DCAKD KIF18B GFAP ENSG00000224911 C1QL1 ENSG00000224505 HEXIM2 CCDC103 EFTUD2 FAM187A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCDC103 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC103 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001347233 -42 2201 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1

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

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

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.

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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.

Gene Ontology (GO) - Cellular Components for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 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

No data available for Subcellular locations from COMPARTMENTS 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: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

Transcripts for CCDC103 Gene

Unigene Clusters for CCDC103 Gene

Coiled-coil domain containing 103:
Representative Sequences:

Inhibitory RNA Products

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC103 34 35
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia CCDC103 34 35
  • 86.95 (n)
dog
(Canis familiaris)
Mammalia LOC490934 34
  • 85.67 (n)
CCDC103 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc103 34 16 35
  • 83.57 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc103 34
  • 81.24 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC103 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC103 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC103 34 35
  • 59.46 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC103 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc103 34
  • 54.33 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc103 34 35
  • 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 Sequence Context AA Info Type
rs145457535 Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679], Pathogenic 44,902,549(+) TGATC(A/C)CGTGG reference, missense, utr-variant-3-prime
rs587776910 Pathogenic 44,902,471(+) GGGGG(-/G)TCCAA reference, utr-variant-3-prime, frameshift-variant
rs186133494 Likely benign 44,902,706(+) AGATC(C/T)GTGAA reference, synonymous-codon, utr-variant-3-prime
rs200964903 Likely benign 44,902,391(+) GAGAC(A/G/T)TCTGC reference, synonymous-codon, missense, utr-variant-3-prime
rs878855312 Likely benign 44,902,793(+) GAGCT(C/G)CTGGA reference, synonymous-codon, utr-variant-3-prime

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)

Relevant External Links 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

(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 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. 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 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for CCDC103 Gene

Sources for CCDC103 Gene

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