Aliases for DNAH5 Gene
Aliases for DNAH5 Gene
External Ids for DNAH5 Gene
- HGNC: 2950
- Entrez Gene: 1767
- Ensembl: ENSG00000039139
- OMIM: 603335
- UniProtKB: Q8TE73
Previous GeneCards Identifiers for DNAH5 Gene
- GC05M013686
- GC05M013971
- GC05M013743
- GC05M013744
Summaries for DNAH5 Gene
-
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
GeneCards Summary for DNAH5 Gene
DNAH5 (Dynein Axonemal Heavy Chain 5) is a Protein Coding gene. Diseases associated with DNAH5 include Ciliary Dyskinesia, Primary, 3 and Kartagener Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH10.
UniProtKB/Swiss-Prot for DNAH5 Gene
-
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.
Additional gene information for DNAH5 Gene
- Monarch Initiative
- Search for DNAH5 at DataMed
- Search for DNAH5 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH5 Gene
Genomics for DNAH5 Gene
GeneHancer (GH) Regulatory Elements for DNAH5 Gene
Promoters and enhancers for DNAH5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around DNAH5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DNAH5 gene promoter:
-
- POU3F2 (N-Oct-5b)
- POU3F2 (N-Oct-5a)
- POU3F2
- HSF1short
- MyoD
- HSF1 (long)
- FOXI1
- HFH-3
- Cart-1
- Lmo2
Regulatory Element Products
Genomic Locations for DNAH5 Gene
Genomic Locations for DNAH5 Gene
- chr5:13,690,328-14,011,759
- (GRCh38/hg38)
- Size:
- 321,432 bases
- Orientation:
- Minus strand
- chr5:13,690,437-13,944,652
- (GRCh37/hg19)
- Size:
- 254,216 bases
- Orientation:
- Minus strand
Genomic View for DNAH5 Gene
Genes around DNAH5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5p15.2 by Entrez Gene
- 5p15.2 by HGNC
- 5p15.2 by Ensembl
DNAH5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DNAH5 Gene
Proteins for DNAH5 Gene
-
Protein details for DNAH5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TE73-DYH5_HUMAN
- Recommended name:
- Dynein heavy chain 5, axonemal
- Protein Accession:
- Q8TE73
- Q92860
- Q96L74
- Q9H5S7
- Q9HCG9
Protein attributes for DNAH5 Gene
- Size:
- 4624 amino acids
- Molecular mass:
- 529021 Da
- Quaternary structure:
-
- Interacts with DNAL1 (PubMed:21496787). Consists of at least two heavy chains and a number of intermediate and light chains.
- SequenceCaution:
-
- Sequence=BAB15543.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for DNAH5 Gene
Post-translational modifications for DNAH5 Gene
Other Protein References for DNAH5 Gene
Antibody Products
- Novus Biologicals Antibodies for DNAH5
-
Abcam antibodies for DNAH5
- Invitrogen Antibodies for DNAH5 (AFLGC-DNAH5)
- antibodies-online: Search results for 5 available Dnah5 Antibodies ranked by validation data
- Compare Top Dnah5 Antibodies
-
Quality Products:
- Search GeneTex for Antibodies for DNAH5
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for DNAH5
- Origene Custom Protein Services for DNAH5
- Novus Biologicals proteins for DNAH5
- Search GeneTex for Proteins for DNAH5
Assay Products
No data available for DME Specific Peptides for DNAH5 Gene
Domains & Families for DNAH5 Gene
Gene Families for DNAH5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for DNAH5 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DNAH5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TE73UniProtKB/Swiss-Prot:
DYH5_HUMAN :- Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
- Belongs to the dynein heavy chain family.
- Domain:
-
- Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
- Family:
-
- Belongs to the dynein heavy chain family.
Function for DNAH5 Gene
Molecular function for DNAH5 Gene
- UniProtKB/Swiss-Prot Function:
- Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.
Phenotypes From GWAS Catalog for DNAH5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003774 | motor activity | IEA | -- |
| GO:0003777 | microtubule motor activity | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008569 | ATP-dependent microtubule motor activity, minus-end-directed | IBA | -- |
| GO:0016887 | ATPase activity | IEA | -- |
Phenotypes for DNAH5 Gene
- MGI mutant phenotypes for DNAH5:
-
inferred from 16 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- skeleton phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for DNAH5:
Animal Models for DNAH5 Gene
- MGI Knock Outs for DNAH5:
-
- Dnah5 Dnah5<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DNAH5
-
CRISPR Products
-
OriGene CRISPR knockouts for DNAH5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAH5
- genomics-online: gRNA clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- Applied Biological Materials CRISPR for DNAH5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAH5
- GenScript: Design CRISPR guide RNA sequences for DNAH5
miRNA for DNAH5 Gene
- miRTarBase miRNAs that target DNAH5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAH5
- Browse OriGene Inhibitory RNA Products For DNAH5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH5
- genomics-online: shRNA clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAH5
- Applied Biological Materials Clones for DNAH5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DNAH5
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAH5 Gene
Localization for DNAH5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DNAH5 Gene
- Cytoplasm, cytoskeleton, cilium axoneme.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 3 |
| mitochondrion | 2 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005929 | cilium | IEA | -- |
| GO:0005930 | axoneme | IDA | 15750039 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAH5 Gene
Pathways & Interactions for DNAH5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
Pathways by source for DNAH5 Gene
1 KEGG pathway for DNAH5 Gene
Interacting Proteins for DNAH5 Gene
GPS-Prot Interaction Network for DNAH5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003341 | cilium movement | IMP | 11062149 |
| GO:0007018 | microtubule-based movement | IBA,IEA | -- |
| GO:0007368 | determination of left/right symmetry | IMP | 11788826 |
| GO:0030317 | flagellated sperm motility | IMP | 15750039 |
| GO:0036158 | outer dynein arm assembly | IMP | 11062149 |
No data available for SIGNOR curated interactions for DNAH5 Gene
Transcripts for DNAH5 Gene
mRNA/cDNA for DNAH5 Gene
- (16) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (48) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000265104 15633 bps (uc003jfd.4)
- ENST00000504001 760 bps (uc063ckg.1)
- ENST00000512443 676 bps (uc063ckh.1)
- ENST00000508040 2081 bps (uc003jfe.1)
Unigene Clusters for DNAH5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DNAH5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAH5
- genomics-online: gRNA clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- Applied Biological Materials CRISPR for DNAH5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAH5
- GenScript: Design CRISPR guide RNA sequences for DNAH5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAH5
- Browse OriGene Inhibitory RNA Products For DNAH5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH5
- genomics-online: shRNA clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAH5
- Applied Biological Materials Clones for DNAH5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: |
| ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50 | ^ | 51 | ^ | 52 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: |
| ExUns: | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57 | ^ | 58 | ^ | 59 | ^ | 60a | · | 60b | ^ | 61 | ^ | 62 | ^ | 63 | ^ | 64 | ^ | 65 | ^ | 66 | ^ | 67 | ^ | 68 | ^ | 69 | ^ | 70 | ^ | 71 | ^ | 72 | ^ | 73 | ^ | 74 | ^ | 75 | ^ | 76 | ^ | 77 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: |
| ExUns: | 78 | ^ | 79 | ^ | 80 | ^ | 81a | · |
|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||
| SP2: | ||||||||
| SP3: | ||||||||
| SP4: |
Expression for DNAH5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for DNAH5 Gene
This gene is overexpressed in Pituitary (x7.7) and Lung (x4.6).
This gene is overexpressed in Liver (24.7) and Blymphocyte (16.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAH5 Gene
NURSA nuclear receptor signaling pathways regulating expression of DNAH5 Gene:
DNAH5SOURCE GeneReport for Unigene cluster for DNAH5 Gene:
Hs.212360Evidence on tissue expression from TISSUES for DNAH5 Gene
- Lung(4.5)
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH5 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
Primer Products
-
OriGene qPCR primer pairs for DNAH5
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DNAH5 Gene
Orthologs for DNAH5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DNAH5 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DNAH5 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DNAH5 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Dnah5 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DNAH5 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH5 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DNAH5 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DNAH5 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dnah5 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.34002 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dnah5 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | kl-3 35 |
|
|
|
| CG9492 34 35 33 |
|
OneToOne | |||
| kl-2 35 |
|
|
|||
| Dhc64C 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003271 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | dhc-1 35 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| CSA.4159 34 |
|
OneToMany |
- Species where no ortholog for DNAH5 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)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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 DNAH5 Gene
- ENSEMBL:
- Gene Tree for DNAH5 (if available)
- TreeFam:
- Gene Tree for DNAH5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNAH5: view image
Paralogs for DNAH5 Gene
(18) SIMAP similar genes for DNAH5 Gene using alignment to 2 proteins:
- DYH5_HUMAN
- O95496_HUMAN
Variants for DNAH5 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10041113 | benign, not specified, Primary ciliary dyskinesia | 13,844,936(-) | G/A/T | coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs10057007 | benign, likely-benign, not specified, Primary ciliary dyskinesia | 13,882,732(-) | A/C/G | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
| rs10077457 | benign, conflicting-interpretations-of-pathogenicity, not specified, Primary ciliary dyskinesia | 13,714,459(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant | |
| rs10078391 | benign, not specified, Primary ciliary dyskinesia | 13,811,666(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1024785789 | uncertain-significance, Primary ciliary dyskinesia | 13,850,745(-) | C/A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant |
Residual Variation Intolerance Score:
96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
28.60;
99.86% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DNAH5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH5 Gene
Disorders for DNAH5 Gene
(10) MalaCards diseases for DNAH5 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ciliary dyskinesia, primary, 3 |
|
|
| kartagener syndrome |
|
|
| ciliary dyskinesia, primary, 1 |
|
|
| primary ciliary dyskinesia |
|
|
| bronchiectasis |
|
|
Search DNAH5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DYH5_HUMAN- Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]: 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:11062149, ECO:0000269 PubMed:11788826, ECO:0000269 PubMed:16627867, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DNAH5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DNAH5 Gene
Publications for DNAH5 Gene
- Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (PMID: 19357118) Failly M … Blouin JL (Journal of medical genetics 2009) 3 22 44 58
- Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D … Foresta C (Human reproduction (Oxford, England) 2008) 3 22 44 58
- Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. (PMID: 11788826) Olbrich H … Omran H (Nature genetics 2002) 2 3 4 58
- A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. (PMID: 22036096) Ramasamy A … Jarvis DL (The Journal of allergy and clinical immunology 2011) 3 44 58
- DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. (PMID: 18950741) Loges NT … Omran H (American journal of human genetics 2008) 3 22 58
Products for DNAH5 Gene
- Browse R&D Systems for Antibodies
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- Origene Custom Protein Services for DNAH5
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAH5
- Browse OriGene Inhibitory RNA Products For DNAH5
- OriGene qPCR primer pairs for DNAH5
- OriGene CRISPR knockouts for DNAH5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DNAH5
- GenScript: Next-day shipping of latest version cDNA ORF clones for DNAH5 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for DNAH5
- GenScript Custom Assay Services for DNAH5
- GenScript Custom overexpressing Cell Line Services for DNAH5
- GenScript: Design CRISPR guide RNA sequences for DNAH5
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for DNAH5
- Browse Sino Biological cDNA Clones
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- Browse Sino Biological Antibodies
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- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for DNAH5
- Novus Biologicals proteins for DNAH5
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for DNAH5
- Find your target
- Browse Primary Antibodies
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
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- Invitrogen Antibodies for DNAH5 (AFLGC-DNAH5)
- Cyagen custom Knockout/knockin (KOKI) mouse models for DNAH5
- antibodies-online: Search results for 5 available Dnah5 Antibodies ranked by validation data
- Compare Top Dnah5 Antibodies
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- antibodies-online: Search results for available Dnah5 related products ranked by validation data
- antibodies-online: Search results for available Dnah5 related products ranked by validation data
- Search GeneTex for Antibodies for DNAH5
- Search GeneTex for Proteins for DNAH5
- Horizon Cell Lines for DNAH5
- genomics-online: cdna clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- orf clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- genomics-online: gRNA clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- genomics-online: primer clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- genomics-online: shRNA clones - Search results for 33 available Dnah5 gene related products
- Overview of 33 available Dnah5 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAH5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAH5
- GeneCopoeia miRNA 3'UTR Target clone products for DNAH5
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Sources for DNAH5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt