DNAH5 Gene (Protein Coding)

Dynein Axonemal Heavy Chain 5

GC05M013693
GIFtS:
41
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 pr... See more...

Aliases for DNAH5 Gene

Aliases for DNAH5 Gene

  • Dynein Axonemal Heavy Chain 5 2 3 5
  • HL1 2 3 4
  • Dynein, Axonemal, Heavy Polypeptide 5 2 3
  • Axonemal Beta Dynein Heavy Chain 5 3 4
  • Dynein Heavy Chain 5, Axonemal 3 4
  • Ciliary Dynein Heavy Chain 5 3 4
  • DNAHC5 3 4
  • CILD3 2 3
  • KTGNR 2 3
  • PCD 2 3
  • Dynein Heavy Chain 5 2
  • KIAA1603 4
  • Dnahc5 2
  • DNAH5 5

External Ids for DNAH5 Gene

Previous GeneCards Identifiers for DNAH5 Gene

  • GC05M013686
  • GC05M013971
  • GC05M013743
  • GC05M013744
  • GC05M013745

Summaries for DNAH5 Gene

Entrez Gene Summary 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 Primary Ciliary Dyskinesia. Among its related pathways are Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH8.

UniProtKB/Swiss-Prot Summary 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.

Gene Wiki entry for DNAH5 Gene

Additional gene information for DNAH5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAH5 Gene

Genomics for DNAH5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNAH5 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
GH05J014010 Promoter/Enhancer 1.8 EPDnew ENCODE CraniofacialAtlas dbSUPER 289.4 +0.2 232 2.4 ZSCAN16 ZBTB10 MXD4 DEK ELF1 ZNF610 ZNF513 ELK1 SIN3A SIN3B DNAH5 lnc-DNAH5-5 TRIO RBBP4P1 RF00017-4510
GH05J014032 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.8 -25.5 -25516 10.3 IKZF1 BRCA1 ZEB1 ELF1 ZIC2 CEBPB SIN3A CUX1 FOXA2 ZNF639 lnc-TRIO-5 DNAH5 TRIO piR-38352-431 lnc-TRIO-10
GH05J014004 Enhancer 1.1 Ensembl ENCODE dbSUPER 39.1 +4.4 4362 5.1 CEBPA CEBPB ZNF513 FOXA2 SAP130 RXRA ZSCAN9 ZBTB33 RARA JUND DNAH5 RBBP4P1 TRIO lnc-DNAH5-5 RF00017-4510
GH05J013993 Enhancer 0.9 Ensembl ENCODE dbSUPER 27.4 +17.4 17350 2.3 MAFF ZNF316 MAFK MAFG IKZF1 EGR2 NFE2L2 LARP7 ZFHX2 EMSY DNAH5 lnc-DNAH5-4 lnc-TRIO-1
GH05J014028 Enhancer 0.6 dbSUPER 33.3 -17.8 -17843 2.1 SCRT1 IKZF1 BMI1 SP7 ZNF26 SPI1 IKZF2 MTA2 DPF2 EP300 DNAH5 lnc-TRIO-5 lnc-TRIO-10 piR-38352-431 TRIO
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAH5

Top Transcription factor binding sites by QIAGEN in the DNAH5 gene promoter:
  • Cart-1
  • FOXI1
  • HFH-3
  • HSF1 (long)
  • HSF1short
  • Lmo2
  • MyoD
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for DNAH5 Gene

Latest Assembly
chr5:13,690,328-14,011,829
(GRCh38/hg38)
Size:
321,502 bases
Orientation:
Minus strand

Previous Assembly
chr5:13,690,437-13,944,797
(GRCh37/hg19 by Entrez Gene)
Size:
254,361 bases
Orientation:
Minus strand

chr5:13,690,440-13,944,652
(GRCh37/hg19 by Ensembl)
Size:
254,213 bases
Orientation:
Minus strand

Genomic View for DNAH5 Gene

Genes around DNAH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNAH5 Gene

Proteins for DNAH5 Gene

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  • Protein details for DNAH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE73-DYH5_HUMAN
    Recommended name:
    Dynein heavy chain 5, axonemal
    Protein Accession:
    Q8TE73
    Secondary Accessions:
    • 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; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for DNAH5 Gene

Protein Expression for DNAH5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DNAH5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH5 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
  • Dynein heavy chain
  • ATPase associated with various cellular activities, AAA_5
  • Dynein heavy chain, N-terminal region 1
ProtoNet:

Suggested Antigen Peptide Sequences for DNAH5 Gene

GenScript: Design optimal peptide antigens:
  • Ciliary dynein heavy chain 5 (DYH5_HUMAN)
  • Axonemal dynein, heavy chain (O95496_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TE73

UniProtKB/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.
genes like me logo Genes that share domains with DNAH5: view

Function for DNAH5 Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for DNAH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
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 21873635
genes like me logo Genes that share ontologies with DNAH5: view
genes like me logo Genes that share phenotypes with DNAH5: view

Human Phenotype Ontology for DNAH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAH5 Gene

MGI Knock Outs for DNAH5:
  • Dnah5 Dnah5<tm1b(KOMP)Wtsi>

Animal Models for research

miRNA for DNAH5 Gene

miRTarBase miRNAs that target DNAH5

Inhibitory RNAs for research

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

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 DNAH5 gene
Compartment Confidence
cytoskeleton 5
extracellular 3
nucleus 3
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DNAH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IDA 29916806
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with DNAH5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAH5 Gene

Pathways & Interactions for DNAH5 Gene

genes like me logo Genes that share pathways with DNAH5: view

Pathways by source for DNAH5 Gene

Gene Ontology (GO) - Biological Process for DNAH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IEA,IMP 11062149
GO:0003351 epithelial cilium movement IEA --
GO:0007018 microtubule-based movement IEA,IBA 21873635
GO:0007368 determination of left/right symmetry IEA,IMP 11788826
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with DNAH5: view

No data available for SIGNOR curated interactions for DNAH5 Gene

Drugs & Compounds for DNAH5 Gene

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No Compound Related Data Available

Transcripts for DNAH5 Gene

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mRNA/cDNA for DNAH5 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 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 DNAH5

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH5 Gene

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:

Relevant External Links for DNAH5 Gene

GeneLoc Exon Structure for
DNAH5

Expression for DNAH5 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAH5 Gene

mRNA expression in normal human tissues for DNAH5 Gene
mRNA expression by GTEx for DNAH5 GenemRNA expression by BioGPS 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).

Protein differential expression in normal tissues from HIPED for DNAH5 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAH5

SOURCE GeneReport for Unigene cluster for DNAH5 Gene:

Hs.212360

mRNA Expression by UniProt/SwissProt for DNAH5 Gene:

Q8TE73-DYH5_HUMAN
Tissue specificity: Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).

Evidence on tissue expression from TISSUES for DNAH5 Gene

  • Lung(4.5)
  • Nervous system(4.4)

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
genes like me logo Genes that share expression patterns with DNAH5: view

Primer products for research

No data available for Protein tissue co-expression partners for DNAH5 Gene

Orthologs for DNAH5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DNAH5 30 31
  • 99.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNAH5 30 31
  • 89.19 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNAH5 30 31
  • 88.96 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dnah5 30 17 31
  • 85.51 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNAH5 31
  • 85 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DNAH5 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNAH5 30 31
  • 74.46 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNAH5 31
  • 70 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnah5 30
  • 73.53 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.34002 30
Zebrafish
(Danio rerio)
 Actinopterygii dnah5 31
  • 86 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta kl-3 32
  • 59 (a)
CG9492 30 31 32
  • 57.46 (n)
 OneToOne
kl-2 32
  • 32 (a)
Dhc64C 32
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003271 30
  • 56.93 (n)
Worm
(Caenorhabditis elegans)
 Secernentea dhc-1 32
  • 27 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 73 (a)
 OneToMany
-- 31
  • 72 (a)
 OneToMany
CSA.4159 31
  • 60 (a)
 OneToMany
Species where no ortholog for DNAH5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

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

Paralogs for DNAH5 Gene

(18) SIMAP similar genes for DNAH5 Gene using alignment to 2 proteins:

  • DYH5_HUMAN
  • O95496_HUMAN
genes like me logo Genes that share paralogs with DNAH5: view

Variants for DNAH5 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAH5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
407251 Likely Pathogenic: Primary ciliary dyskinesia 13,917,159(-) AAAGGGTCACAACATT
NM_001369.2(DNAH5):c.799-269_1072del 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
834495 Likely Pathogenic: Primary ciliary dyskinesia 13,762,769(-) CTTTCGTCCAGGAACA
NM_001369.2(DNAH5):c.10219_10233del (p.Cys3407_Lys3411del) 		INFRAME_DELETION
834775 Uncertain Significance: Primary ciliary dyskinesia 13,810,216(-) G/C
NM_001369.2(DNAH5):c.7452C>G (p.Phe2484Leu) 		MISSENSE
835399 Pathogenic: Primary ciliary dyskinesia 13,770,839(-) T/TG
NM_001369.2(DNAH5):c.9514dup (p.His3172fs) 		FRAMESHIFT
835593 Uncertain Significance: Primary ciliary dyskinesia 13,717,463(-) T/C
NM_001369.2(DNAH5):c.12557A>G (p.Tyr4186Cys) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAH5 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 DNAH5 Gene

Variant ID Type Subtype PubMed ID
dgv1074e214 CNV gain 21293372
dgv3044n106 CNV deletion 24896259
dgv5577n100 CNV gain 25217958
esv1570352 CNV deletion 17803354
esv1601219 CNV insertion 17803354
esv1927773 CNV deletion 18987734
esv2193030 CNV deletion 18987734
esv2469450 CNV insertion 19546169
esv2526226 CNV deletion 19546169
esv2729796 CNV deletion 23290073
esv2729797 CNV deletion 23290073
esv2729798 CNV deletion 23290073
esv2729799 CNV deletion 23290073
esv2729800 CNV deletion 23290073
esv2760949 CNV gain+loss 21179565
esv2763438 CNV gain 21179565
esv3294496 CNV deletion 24192839
esv3305315 CNV mobile element insertion 20981092
esv3393314 CNV insertion 20981092
esv3432260 CNV insertion 20981092
esv3565557 CNV deletion 23714750
esv3565558 CNV deletion 23714750
esv3570000 CNV loss 25503493
esv3604075 CNV gain 21293372
esv3894136 CNV gain 25118596
esv5337 CNV loss 18987735
esv8502 CNV loss 19470904
esv997684 CNV deletion 20482838
nsv1072529 CNV deletion 25765185
nsv1072533 CNV deletion 25765185
nsv1117540 CNV deletion 24896259
nsv1140516 CNV deletion 24896259
nsv4723 CNV insertion 18451855
nsv478312 CNV novel sequence insertion 20440878
nsv516415 CNV gain+loss 19592680
nsv518158 CNV loss 19592680
nsv830208 CNV gain 17160897
nsv955766 CNV deletion 24416366
nsv956444 CNV deletion 24416366

Variation tolerance for DNAH5 Gene

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

Human Gene Mutation Database (HGMD)
DNAH5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH5 Gene

Disorders for DNAH5 Gene

MalaCards: The human disease database

(28) MalaCards diseases for DNAH5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 3
  • cild3
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
male infertility
  • infertility male
ciliary dyskinesia, primary, 1
  • cild1
- elite association - COSMIC cancer census association via MalaCards
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 variants affecting the gene represented in this entry.

Additional Disease Information for DNAH5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DNAH5: view

No data available for Genatlas for DNAH5 Gene

Publications for DNAH5 Gene

  1. 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 74
  2. 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 23 41
  3. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D … Foresta C (Human reproduction (Oxford, England) 2008) 3 23 41
  4. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. (PMID: 31178125) Whitfield M … Legendre M (American journal of human genetics 2019) 3 4
  5. 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 41

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