This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] See more...

Aliases for ODAD3 Gene

Aliases for ODAD3 Gene

  • Outer Dynein Arm Docking Complex Subunit 3 2 3
  • Coiled-Coil Domain Containing 151 2 3 5
  • CCDC151 3 4 5
  • Coiled-Coil Domain-Containing Protein 151 3 4
  • ODA10 2 3
  • Outer Dynein Arm-Docking Complex Subunit 3 4
  • MGC20983 2
  • CILD30 3

External Ids for ODAD3 Gene

Previous HGNC Symbols for ODAD3 Gene

  • CCDC151

Summaries for ODAD3 Gene

Entrez Gene Summary for ODAD3 Gene

  • This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

GeneCards Summary for ODAD3 Gene

ODAD3 (Outer Dynein Arm Docking Complex Subunit 3) is a Protein Coding gene. Diseases associated with ODAD3 include Ciliary Dyskinesia, Primary, 30 and Primary Ciliary Dyskinesia. An important paralog of this gene is ODAD1.

UniProtKB/Swiss-Prot Summary for ODAD3 Gene

  • Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:25192045). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (PubMed:25192045).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ODAD3 Gene

Genomics for ODAD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ODAD3 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
GH19J011434 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.1 92 2.6 TBP ZBTB10 BCL11A SP1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 PRKCSH ODAD3 lnc-RGL3-1 ZNF20 ZNF44 CNN1 ZNF763 KRI1 ZNF136 ZNF799
GH19J011530 Enhancer 1.1 FANTOM5 ENCODE 5 -94.8 -94829 0.2 MXD4 CEBPA MNT BHLHE40 CTCF HOMEZ THAP11 CEBPB SIN3A ZNF511 ECSIT ZNF439 ODAD3 ELAVL3 ZNF491 ZNF653 ZNF441 lnc-CNN1-1 CNN1
GH19J011478 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 3.3 -45.4 -45419 4 TBP SP1 MXD4 ZBTB10 NR2C1 MNT HES1 MBD2 ZNF217 POLR2A ELAVL3 lnc-ELAVL3-1 ILF3 KRI1 ZNF136 ZNF627 TIMM29 ZNF44 ZNF441 ZNF625
GH19J011373 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.1 +59.5 59462 6.2 TBP SP1 MXD4 FEZF1 CEBPA ZNF217 NR2C1 MNT BRCA1 SMAD5 TMEM205 SWSAP1 ENSG00000267277 HSALNG0124021 piR-38729 ILF3 ZNF136 ZNF627 KRI1 ZNF442
GH19J011420 Promoter/Enhancer 1.2 Ensembl ENCODE 0.4 +14.1 14091 2.7 SP1 CEBPA ETS1 CEBPB SAP130 EBF1 CTBP1 KLF9 SP2 ZNF316 NONHSAG024840.2 RGL3 RF00017-2818 ODAD3 PRKCSH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ODAD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ODAD3

Genomic Locations for ODAD3 Gene

Latest Assembly
chr19:11,420,604-11,435,782
(GRCh38/hg38)
Size:
15,179 bases
Orientation:
Minus strand

Previous Assembly
chr19:11,531,273-11,546,603
(GRCh37/hg19 by Entrez Gene)
Size:
15,331 bases
Orientation:
Minus strand

chr19:11,531,272-11,546,603
(GRCh37/hg19 by Ensembl)
Size:
15,332 bases
Orientation:
Minus strand

Genomic View for ODAD3 Gene

Genes around ODAD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ODAD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ODAD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ODAD3 Gene

Proteins for ODAD3 Gene

  • Protein details for ODAD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A5D8V7-ODAD3_HUMAN
    Recommended name:
    Outer dynein arm-docking complex subunit 3
    Protein Accession:
    A5D8V7
    Secondary Accessions:
    • B4DXT0
    • Q96CG5

    Protein attributes for ODAD3 Gene

    Size:
    595 amino acids
    Molecular mass:
    69140 Da
    Quaternary structure:
    • Component of the outer dynein arm-docking complex along with ODAD1, ODAD2 and ODAD4 (PubMed:25192045). Interacts with ODAD1 (PubMed:25192045).

    Alternative splice isoforms for ODAD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ODAD3 Gene

Post-translational modifications for ODAD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ODAD3 Gene

No data available for DME Specific Peptides for ODAD3 Gene

Domains & Families for ODAD3 Gene

Gene Families for ODAD3 Gene

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

Protein Domains for ODAD3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ODAD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56009 (B4DXT0_HUMAN)
  • CCDC151 protein (B7ZMB9_HUMAN)
  • Coiled-coil domain-containing protein 151 (CC151_HUMAN)
genes like me logo Genes that share domains with ODAD3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ODAD3 Gene

Function for ODAD3 Gene

Molecular function for ODAD3 Gene

UniProtKB/Swiss-Prot Function:
Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:25192045). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (PubMed:25192045).

Phenotypes From GWAS Catalog for ODAD3 Gene

Gene Ontology (GO) - Molecular Function for ODAD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23455924
genes like me logo Genes that share ontologies with ODAD3: view
genes like me logo Genes that share phenotypes with ODAD3: view

Human Phenotype Ontology for ODAD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ODAD3 Gene

MGI Knock Outs for ODAD3:
  • Odad3 Odad3<tm1b(EUCOMM)Hmgu>

miRNA for ODAD3 Gene

miRTarBase miRNAs that target ODAD3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ODAD3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ODAD3 Gene

Localization for ODAD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ODAD3 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium axoneme.

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 ODAD3 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ODAD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole ISS --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA,ISS --
GO:0005930 axoneme IDA 25192045
genes like me logo Genes that share ontologies with ODAD3: view

Pathways & Interactions for ODAD3 Gene

PathCards logo

SuperPathways for ODAD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ODAD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IEA,IMP 25192045
GO:0007368 determination of left/right symmetry IMP 25192045
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IDA 25192045
GO:0070286 axonemal dynein complex assembly IEA --
genes like me logo Genes that share ontologies with ODAD3: view

No data available for Pathways by source and SIGNOR curated interactions for ODAD3 Gene

Drugs & Compounds for ODAD3 Gene

No Compound Related Data Available

Transcripts for ODAD3 Gene

mRNA/cDNA for ODAD3 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ODAD3

Alternative Splicing Database (ASD) splice patterns (SP) for ODAD3 Gene

No ASD Table

Relevant External Links for ODAD3 Gene

GeneLoc Exon Structure for
ODAD3

Expression for ODAD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ODAD3

SOURCE GeneReport for Unigene cluster for ODAD3 Gene:

Hs.124010

Evidence on tissue expression from TISSUES for ODAD3 Gene

  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ODAD3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
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
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ODAD3 Gene

Orthologs for ODAD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ODAD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC151 30 31
  • 99.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC151 30 31
  • 81.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC151 30 31
  • 81.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc151 30
  • 76.06 (n)
Mouse
(Mus musculus)
Mammalia Ccdc151 30 31
  • 75.5 (n)
OneToOne
Odad3 17
Oppossum
(Monodelphis domestica)
Mammalia CCDC151 31
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 39 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia CCDC151 31
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc151 30
  • 56.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc151 30 31
  • 52.63 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14127 31
  • 21 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for ODAD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 ODAD3 Gene

ENSEMBL:
Gene Tree for ODAD3 (if available)
TreeFam:
Gene Tree for ODAD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ODAD3: view image

Paralogs for ODAD3 Gene

Paralogs for ODAD3 Gene

genes like me logo Genes that share paralogs with ODAD3: view

Variants for ODAD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ODAD3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
836190 Uncertain Significance: Ciliary dyskinesia, primary, 30 11,426,733(-) C/T
NM_145045.5(ODAD3):c.664G>A (p.Glu222Lys)
MISSENSE_VARIANT,INTRON
846040 Uncertain Significance: Ciliary dyskinesia, primary, 30 11,423,874(-) C/T
NM_145045.5(ODAD3):c.1116+3G>A
INTRON
846529 Uncertain Significance: Ciliary dyskinesia, primary, 30 11,421,760(-) C/A
NM_145045.5(ODAD3):c.1507G>T (p.Val503Leu)
MISSENSE
850637 Uncertain Significance: Ciliary dyskinesia, primary, 30 11,426,974(-) C/T
NM_145045.5(ODAD3):c.511G>A (p.Val171Met)
MISSENSE
852533 Uncertain Significance: Ciliary dyskinesia, primary, 30 11,434,818(-) C/G
NM_145045.5(ODAD3):c.199G>C (p.Val67Leu)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ODAD3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ODAD3 Gene

Variant ID Type Subtype PubMed ID
esv2718178 CNV deletion 23290073
esv2718179 CNV deletion 23290073
nsv519802 CNV loss 19592680
nsv833752 CNV loss 17160897
nsv953975 CNV deletion 24416366

Variation tolerance for ODAD3 Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ODAD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ODAD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ODAD3 Gene

Disorders for ODAD3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ODAD3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 30
  • cild30
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • cild1
situs inversus
  • complete transposition
- elite association - COSMIC cancer census association via MalaCards
Search ODAD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ODAD3_HUMAN
  • Ciliary dyskinesia, primary, 30 (CILD30) [MIM:616037]: 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. Patients may 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:25192045, ECO:0000269 PubMed:25224326}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ODAD3

genes like me logo Genes that share disorders with ODAD3: view

No data available for Genatlas for ODAD3 Gene

Publications for ODAD3 Gene

  1. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. (PMID: 25192045) Hjeij R … Mitchison HM (American journal of human genetics 2014) 3 4 74
  2. Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. (PMID: 25224326) Alsaadi MM … Day IN (Human mutation 2014) 3 4 74
  3. The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. (PMID: 24067530) Jerber J … Durand B (Human molecular genetics 2014) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for ODAD3 Gene

Sources for ODAD3 Gene