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Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] See more...
Aliases for DNAH17 Gene
Aliases for DNAH17 Gene
External Ids for DNAH17 Gene
- HGNC: 2946
- Entrez Gene: 8632
- Ensembl: ENSG00000187775
- OMIM: 610063
- UniProtKB: Q9UFH2
Previous HGNC Symbols for DNAH17 Gene
- DNAHL1
Previous GeneCards Identifiers for DNAH17 Gene
- GC17P076291
- GC17M079807
- GC17M076880
- GC17M077016
- GC17M077017
- GC17M073931
- GC17U900585
- GC17M076416
- GC17M071842
Summaries for DNAH17 Gene
-
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
GeneCards Summary for DNAH17 Gene
DNAH17 (Dynein Axonemal Heavy Chain 17) is a Protein Coding gene. Diseases associated with DNAH17 include Spermatogenic Failure 39 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Parkinson disease. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH9.
UniProtKB/Swiss-Prot Summary for DNAH17 Gene
-
Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. 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 (Probable). Plays a major role in sperm motility, implicated in sperm flagellar assembly and beating (PubMed:31178125).
Additional gene information for DNAH17 Gene
- HGNC(2946)
- Entrez Gene(8632)
- Ensembl(ENSG00000187775)
- OMIM(610063)
- UniProtKB(Q9UFH2)
- Open Targets Platform(ENSG00000187775)
- Search for DNAH17 at DataMed
- Search for DNAH17 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAH17 Gene
Genomics for DNAH17 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DNAH17 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH17J078577 | Enhancer | 0.3 | Ensembl | 600.7 | -1.4 | -1365 | 3.6 | SPI1 SOX5 | DNAH17 C1QTNF1 lnc-PGS1-7 CYTH1 | |
| GH17J078576 | Enhancer | 0.2 | Ensembl | 600.7 | +0.9 | 935 | 0.2 | DNAH17 lnc-CYTH1-2 PGS1 | ||
| GH17J078575 | Enhancer | 0.2 | Ensembl | 600.7 | +1.6 | 1635 | 0.8 | DNAH17 lnc-CYTH1-2 PGS1 | ||
| GH17J078672 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE dbSUPER | 47.2 | -95.6 | -95626 | 1.6 | POLR2A FOS JUND TARDBP ZNF335 FOSL2 HIC1 NFATC1 ZBED1 | DNAH17 CYTH1 LOC112268196 ENSG00000279570 | |
| GH17J078532 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 31.4 | +42.8 | 42835 | 4.8 | CREB1 KDM1A JUND ZIC2 CEBPB KLF9 SP1 FOS FOXA2 JUN | RF00017-2575 RN7SL454P lnc-PGS1-11 lnc-CYTH1-3 DNAH17 SOCS3 USP36 RNU6-638P CYTH1 PGS1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DNAH17 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAH17
- Top Transcription factor binding sites by QIAGEN in the DNAH17 gene promoter:
-
- AhR
- AML1a
- AREB6
- Arnt
- E47
- FOXO3a
- FOXO3b
- HTF
- Ik-2
- Tal-1beta
Genomic Locations for DNAH17 Gene
Genomic Locations for DNAH17 Gene
- chr17:78,423,697-78,577,436
- (GRCh38/hg38)
- Size:
- 153,740 bases
- Orientation:
- Minus strand
- chr17:76,419,778-76,573,476
- (GRCh37/hg19)
- Size:
- 153,699 bases
- Orientation:
- Minus strand
Genomic View for DNAH17 Gene
Genes around DNAH17 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.3 by HGNC
- 17q25.3 by Entrez Gene
- 17q25.3 by Ensembl
DNAH17 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 DNAH17 Gene
Proteins for DNAH17 Gene
-
Protein details for DNAH17 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UFH2-DYH17_HUMAN
- Recommended name:
- Dynein heavy chain 17, axonemal
- Protein Accession:
- Q9UFH2
- O00431
- O15206
- Q2M2Y1
- Q6ZRQ2
- Q8N7Q7
Protein attributes for DNAH17 Gene
- Size:
- 4462 amino acids
- Molecular mass:
- 509313 Da
- Quaternary structure:
-
- Consists of at least two heavy chains and a number of intermediate and light chains.
- SequenceCaution:
-
- Sequence=CAA04165.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAB59252.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 1]: Gene prediction based on partial mRNA data.
Protein Expression for DNAH17 Gene
Post-translational modifications for DNAH17 Gene
Other Protein References for DNAH17 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-DNAH17 (aa 764-844) polyclonal antibody
- Novus Biologicals Antibodies for DNAH17
- Invitrogen Antibodies for DNAH17 (AFLGC-DNAH17)
- antibodies-online: Show 4 available DNAH17 Antibodies ranked by validation data
- Compare Top DNAH17 Antibodies
-
Quality Products:
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for DNAH17
- Origene Custom Protein Services for DNAH17
- Novus Biologicals proteins for DNAH17
-
Signalway Proteins for DNAH17
Assay Products
- antibodies-online: Show 8 available DNAH17 Elisa Kits ranked by validation data
- Compare Top DNAH17 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for DNAH17
No data available for DME Specific Peptides for DNAH17 Gene
Domains & Families for DNAH17 Gene
Gene Families for DNAH17 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for DNAH17 Gene
Suggested Antigen Peptide Sequences for DNAH17 Gene
- GenScript: Design optimal peptide antigens:
-
- Dynein light chain 2, axonemal (DYH17_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UFH2UniProtKB/Swiss-Prot:
DYH17_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 (By similarity).
- 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 (By similarity).
- Family:
-
- Belongs to the dynein heavy chain family.
Function for DNAH17 Gene
Molecular function for DNAH17 Gene
- UniProtKB/Swiss-Prot Function:
- Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. 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 (Probable). Plays a major role in sperm motility, implicated in sperm flagellar assembly and beating (PubMed:31178125).
- GENATLAS Biochemistry:
- dynein,axonemal,motor protein interacting with microtubules,heavy chain 17 (91kDa),outer arm,specifically expressed in testis,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with ATPase activity
Phenotypes From GWAS Catalog for DNAH17 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003774 | motor activity | IEA | -- |
| GO:0003777 | microtubule motor activity | NAS | 9373155 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008569 | ATP-dependent microtubule motor activity, minus-end-directed | IBA | 21873635 |
Phenotypes for DNAH17 Gene
- MGI mutant phenotypes for DNAH17:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DNAH17:
Animal Models for DNAH17 Gene
- MGI Knock Outs for DNAH17:
-
- Dnah17 Dnah17<tm1e(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DNAH17 - Select products 50% OFF >
- * DNAH17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DNAH17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAH17
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAH17
miRNA for DNAH17 Gene
- miRTarBase miRNAs that target DNAH17
-
- hsa-miR-4279 (MIRT494104)
- hsa-miR-4467 (MIRT494105)
- hsa-miR-8072 (MIRT494106)
- hsa-miR-4767 (MIRT494107)
- hsa-miR-3960 (MIRT494108)
- hsa-miR-1199-3p (MIRT494109)
- hsa-miR-1908-3p (MIRT494110)
- hsa-miR-1910-5p (MIRT494111)
- hsa-miR-503-5p (MIRT494112)
- hsa-miR-2278 (MIRT494113)
- hsa-miR-6513-5p (MIRT514331)
- hsa-miR-887-5p (MIRT514332)
- hsa-miR-3913-5p (MIRT514333)
- hsa-miR-3122 (MIRT514334)
- hsa-miR-6780a-5p (MIRT514335)
- hsa-miR-450a-1-3p (MIRT514336)
- hsa-miR-6779-5p (MIRT514337)
- hsa-miR-3689c (MIRT514338)
- hsa-miR-3689b-3p (MIRT514339)
- hsa-miR-3689a-3p (MIRT514340)
- hsa-miR-30b-3p (MIRT514341)
- hsa-miR-1273h-5p (MIRT514342)
- hsa-miR-6788-5p (MIRT514343)
- hsa-miR-30c-2-3p (MIRT514344)
- hsa-miR-6799-5p (MIRT514345)
- hsa-miR-30c-1-3p (MIRT514346)
- hsa-miR-6883-5p (MIRT514347)
- hsa-miR-6785-5p (MIRT514348)
- hsa-miR-4728-5p (MIRT514349)
- hsa-miR-149-3p (MIRT514350)
- hsa-miR-7106-5p (MIRT514351)
- hsa-miR-8073 (MIRT514352)
- hsa-miR-6089 (MIRT514353)
- hsa-miR-221-5p (MIRT514354)
- hsa-miR-500a-5p (MIRT514355)
- hsa-miR-8081 (MIRT613392)
- hsa-miR-6790-5p (MIRT613393)
- hsa-miR-4658 (MIRT613394)
- hsa-miR-4758-5p (MIRT613395)
- hsa-miR-1238-5p (MIRT613396)
- hsa-miR-4745-5p (MIRT613397)
- hsa-miR-4481 (MIRT613398)
- hsa-miR-17-3p (MIRT613399)
- hsa-miR-4673 (MIRT613400)
- hsa-miR-4645-5p (MIRT613401)
- hsa-miR-4692 (MIRT613402)
- hsa-miR-4514 (MIRT613403)
- hsa-miR-4733-3p (MIRT613404)
- hsa-miR-6511a-5p (MIRT613405)
- hsa-miR-1910-3p (MIRT613406)
- hsa-miR-1911-3p (MIRT613407)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAH17
- Browse OriGene Inhibitory RNA Products For DNAH17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH17
Clone Products
- Applied Biological Materials (abm): Clones for DNAH17 - Select products 50% OFF >
- * DNAH17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAH17
Cell Line Products
-
Horizon Cell Lines for DNAH17
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNAH17 Gene
Localization for DNAH17 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DNAH17 Gene
- Cytoplasm, cytoskeleton, flagellum axoneme.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| peroxisome | 0 |
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005858 | axonemal dynein complex | NAS | 9373155 |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005929 | cilium | IEA | -- |
Pathways & Interactions for DNAH17 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Parkinson disease | ||
Pathways by source for DNAH17 Gene
1 KEGG pathway for DNAH17 Gene
Interacting Proteins for DNAH17 Gene
GPS-Prot Interaction Network for DNAH17
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003341 | cilium movement | IBA | 21873635 |
| GO:0007018 | microtubule-based movement | IBA | 21873635 |
| GO:0036158 | outer dynein arm assembly | IDA | 31178125 |
| GO:0060285 | cilium-dependent cell motility | NAS | 9373155 |
No data available for SIGNOR curated interactions for DNAH17 Gene
Transcripts for DNAH17 Gene
mRNA/cDNA for DNAH17 Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000591369 5220 nts (view in UCSC)
- ENST00000389840 13725 nts (view in UCSC)
- ENST00000590227 3269 nts (view in UCSC)
- ENST00000586052 6551 nts (view in UCSC)
- ENST00000591647 312 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DNAH17 - Select products 50% OFF >
- * DNAH17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DNAH17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAH17
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAH17
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAH17
- Browse OriGene Inhibitory RNA Products For DNAH17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH17
Clone Products
- Applied Biological Materials (abm): Clones for DNAH17 - Select products 50% OFF >
- * DNAH17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAH17
Relevant External Links for DNAH17 Gene
- GeneLoc Exon Structure for
- DNAH17
Expression for DNAH17 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for DNAH17 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x13.6), Testis (x10.6), Whole Blood (x5.2), and Brain - Substantia nigra (x5.2).
This gene is overexpressed in CD8 Tcells (42.0) and Synovial fluid (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAH17 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAH17
SOURCE GeneReport for Unigene cluster for DNAH17 Gene:
Hs.375975mRNA Expression by UniProt/SwissProt for DNAH17 Gene:
Q9UFH2-DYH17_HUMAN
Tissue specificity:
Expressed in testis (PubMed:9545504). Expressed in spermatozoa (at protein level). Not detected in airway epithelial cells (at protein level) (PubMed:31178125).
Evidence on tissue expression from TISSUES for DNAH17 Gene
- Nervous system(3)
Primer Products
-
OriGene qPCR primer pairs for DNAH17
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH17 Gene
Orthologs for DNAH17 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | DNAH17 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DNAH17 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dnah17 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dnah17 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DNAH17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DNAH17 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DNAH17 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | dnah9l 31 |
|
ManyToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DYN1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for DNAH17 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)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chimpanzee (Pan troglodytes)
- 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 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for DNAH17 Gene
- ENSEMBL:
- Gene Tree for DNAH17 (if available)
- TreeFam:
- Gene Tree for DNAH17 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNAH17: view image
Paralogs for DNAH17 Gene
Paralogs for DNAH17 Gene
(15) SIMAP similar genes for DNAH17 Gene using alignment to 3 proteins:
- DYH17_HUMAN
- K7EK91_HUMAN
- K7ELN3_HUMAN
Variants for DNAH17 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAH17 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 692266 | Pathogenic: SPERMATOGENIC FAILURE 39 | 78,500,459(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 692267 | Pathogenic: SPERMATOGENIC FAILURE 39 | 78,567,156(-) | TTA/T | NONSENSE | |
| 692268 | Pathogenic: SPERMATOGENIC FAILURE 39 | 78,476,713(-) | TGCTGTGGAAAATAAG | FRAMESHIFT_VARIANT | |
| 710118 | Benign: not provided | 78,455,761(-) | C/T | SYNONYMOUS_VARIANT | |
| 710119 | Benign: not provided | 78,462,862(-) | C/T | SYNONYMOUS_VARIANT |
Gene Damage Index Score:
20.22;
99.05% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DNAH17 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH17 Gene
Disorders for DNAH17 Gene
(5) MalaCards diseases for DNAH17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spermatogenic failure 39 |
|
|
| non-syndromic male infertility due to sperm motility disorder |
|
|
| ciliary dyskinesia, primary, 2 |
|
|
| primary ciliary dyskinesia |
|
|
| kartagener syndrome |
|
|
Search DNAH17 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DYH17_HUMAN- Spermatogenic failure 39 (SPGF39) [MIM:618643]: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic anomalies including short, absent, irregularly shaped and coiled flagella, and abnormalities of the head and midpiece. {ECO:0000269 PubMed:31178125}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DNAH17
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for DNAH17 Gene
Publications for DNAH17 Gene
- A potential human axonemal dynein heavy-chain gene maps to 17q25. (PMID: 9545504) Milisav I … Affara NA (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 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
- Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J … Schmid M (Gene 1997) 3 4
ExternalLinks
Products for DNAH17 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for DNAH17
- Origene Custom Protein Services for DNAH17
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAH17
- Browse OriGene Inhibitory RNA Products For DNAH17
- OriGene qPCR primer pairs for DNAH17
- OriGene CRISPR knockouts for DNAH17
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DNAH17
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- 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 DNAH17
- Novus Biologicals proteins for DNAH17
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for DNAH17 (AFLGC-DNAH17)
- VectorBuilder Custom and pre-made DNA vectors for DNAH17 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for DNAH17 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for DNAH17 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for DNAH17 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for DNAH17
- antibodies-online: Show 4 available DNAH17 Antibodies ranked by validation data
- Compare Top DNAH17 Antibodies
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- antibodies-online: Show 8 available DNAH17 Elisa Kits ranked by validation data
- Compare Top DNAH17 Elisa Kits
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- antibodies-online: Search results for available DNAH17 related products ranked by validation data
- Horizon Cell Lines for DNAH17
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAH17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAH17
- Search GeneCopoeia for miRNA 3'UTR Target clone products for DNAH17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH17
Sources for DNAH17 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB