Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Ma... See more...

Aliases for DNAH2 Gene

Aliases for DNAH2 Gene

  • Dynein Axonemal Heavy Chain 2 2 3 5
  • Dynein Heavy Chain Domain-Containing Protein 3 3 4
  • Dynein, Axonemal, Heavy Polypeptide 2 2 3
  • Axonemal Beta Dynein Heavy Chain 2 3 4
  • Dynein Heavy Chain 2, Axonemal 3 4
  • Ciliary Dynein Heavy Chain 2 3 4
  • KIAA1503 2 4
  • DNAHC2 3 4
  • DNHD3 3 4
  • Dynein Heavy Chain Domain 3 2
  • FLJ46675 2
  • DNAH2 5

External Ids for DNAH2 Gene

Previous HGNC Symbols for DNAH2 Gene

  • DNHD3

Previous GeneCards Identifiers for DNAH2 Gene

  • GC17M008184
  • GC17M008551
  • GC17P007624
  • GC02P084826
  • GC17P007864
  • GC17P007604
  • GC17U900597
  • GC17P007565
  • GC17P007623
  • GC17P007518

Summaries for DNAH2 Gene

Entrez Gene Summary for DNAH2 Gene

  • Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAH2 Gene

DNAH2 (Dynein Axonemal Heavy Chain 2) is a Protein Coding gene. Diseases associated with DNAH2 include Papillary Craniopharyngioma and Primary Ciliary Dyskinesia. 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 DNAH3.

UniProtKB/Swiss-Prot Summary for DNAH2 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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAH2 Gene

Genomics for DNAH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAH2 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 DNAH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAH2

Top Transcription factor binding sites by QIAGEN in the DNAH2 gene promoter:
  • ARP-1
  • C/EBPbeta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Sp1

Genomic Locations for DNAH2 Gene

Genomic Locations for DNAH2 Gene
chr17:7,717,354-7,833,744
(GRCh38/hg38)
Size:
116,391 bases
Orientation:
Plus strand
chr17:7,620,672-7,737,062
(GRCh37/hg19)
Size:
116,391 bases
Orientation:
Plus strand

Genomic View for DNAH2 Gene

Genes around DNAH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH2 Gene

Proteins for DNAH2 Gene

  • Protein details for DNAH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P225-DYH2_HUMAN
    Recommended name:
    Dynein heavy chain 2, axonemal
    Protein Accession:
    Q9P225
    Secondary Accessions:
    • A8K992
    • B5MDX5
    • O15434
    • Q6PIH3
    • Q6ZR42

    Protein attributes for DNAH2 Gene

    Size:
    4427 amino acids
    Molecular mass:
    507698 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=AK128517; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA96027.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH2 Gene

Post-translational modifications for DNAH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAH2 Gene

Domains & Families for DNAH2 Gene

Gene Families for DNAH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DNAH2 Gene

Suggested Antigen Peptide Sequences for DNAH2 Gene

GenScript: Design optimal peptide antigens:
  • Dynein heavy chain domain-containing protein 3 (DYH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P225

UniProtKB/Swiss-Prot:

DYH2_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.
genes like me logo Genes that share domains with DNAH2: view

Function for DNAH2 Gene

Molecular function for DNAH2 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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).
GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,heavy chain 2,inner arm,primarily expressed in trachea and 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 DNAH2 Gene

Gene Ontology (GO) - Molecular Function for DNAH2 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 9256245
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 DNAH2: view
genes like me logo Genes that share phenotypes with DNAH2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAH2 Gene

Localization for DNAH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH2 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, flagellum 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 DNAH2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
extracellular 1
nucleus 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex NAS 9256245
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DNAH2: view

Pathways & Interactions for DNAH2 Gene

PathCards logo

SuperPathways for DNAH2 Gene

SuperPathway Contained pathways
1 Parkinson disease
genes like me logo Genes that share pathways with DNAH2: view

Pathways by source for DNAH2 Gene

1 KEGG pathway for DNAH2 Gene

Gene Ontology (GO) - Biological Process for DNAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IBA 21873635
GO:0060285 cilium-dependent cell motility NAS 9256245
genes like me logo Genes that share ontologies with DNAH2: view

No data available for SIGNOR curated interactions for DNAH2 Gene

Drugs & Compounds for DNAH2 Gene

No Compound Related Data Available

Transcripts for DNAH2 Gene

mRNA/cDNA for DNAH2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH2

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH2 Gene

No ASD Table

Relevant External Links for DNAH2 Gene

GeneLoc Exon Structure for
DNAH2

Expression for DNAH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH2 Gene

This gene is overexpressed in Testis (x7.7), Brain - Nucleus accumbens (basal ganglia) (x4.8), and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for DNAH2 Gene

This gene is overexpressed in Breast (34.4) and Pancreas (25.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAH2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAH2

SOURCE GeneReport for Unigene cluster for DNAH2 Gene:

Hs.367649

mRNA Expression by UniProt/SwissProt for DNAH2 Gene:

Q9P225-DYH2_HUMAN
Tissue specificity: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in lung. Expressed in spermatozoa (at protein level) (PubMed:31178125).

Evidence on tissue expression from TISSUES for DNAH2 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with DNAH2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH2 Gene

Orthologs for DNAH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNAH2 30 31
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAH2 30 31
  • 89.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNAH2 30 31
  • 87.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnah2 30
  • 86.86 (n)
Mouse
(Mus musculus)
Mammalia Dnah2 30 17 31
  • 86.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNAH2 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 36 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia DNAH2 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnah2 30
  • 70.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii AL935046.1 31
  • 68 (a)
OneToOne
LOC556023 30
  • 67.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta kl-2 30 31
  • 30.26 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13463 30
Species where no ortholog for DNAH2 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)
  • 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 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 DNAH2 Gene

ENSEMBL:
Gene Tree for DNAH2 (if available)
TreeFam:
Gene Tree for DNAH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAH2: view image

Paralogs for DNAH2 Gene

(17) SIMAP similar genes for DNAH2 Gene using alignment to 4 proteins:

  • DYH2_HUMAN
  • I3L4H9_HUMAN
  • I3L520_HUMAN
  • L8E8M4_HUMAN

Pseudogenes.org Pseudogenes for DNAH2 Gene

genes like me logo Genes that share paralogs with DNAH2: view

Variants for DNAH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAH2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
715312 Likely Benign: not provided 7,775,334(+) C/T MISSENSE_VARIANT
716226 Benign: not provided 7,740,935(+) T/C SYNONYMOUS_VARIANT
720824 Likely Benign: not provided 7,740,849(+) T/C MISSENSE_VARIANT
733028 Likely Benign: not provided 7,765,385(+) C/G INTRON_VARIANT
769428 Benign: not provided 7,739,834(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DNAH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNAH2 Gene

Variant ID Type Subtype PubMed ID
dgv886e212 CNV loss 25503493
esv2520895 CNV deletion 19546169
esv2662285 CNV deletion 23128226
esv2715602 CNV deletion 23290073
esv2715603 CNV deletion 23290073
esv3451999 CNV insertion 20981092
esv3582513 CNV loss 25503493
esv3639874 CNV loss 21293372
nsv518326 CNV gain 19592680
nsv833351 CNV loss 17160897
nsv962252 CNV duplication 23825009

Variation tolerance for DNAH2 Gene

Residual Variation Intolerance Score: 1.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.36; 98.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAH2 Gene

Human Gene Mutation Database (HGMD)
DNAH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH2 Gene

Disorders for DNAH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DNAH2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
papillary craniopharyngioma
  • craniopharyngioma, papillary
primary ciliary dyskinesia
  • pcd
- elite association - COSMIC cancer census association via MalaCards
Search DNAH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DNAH2

genes like me logo Genes that share disorders with DNAH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH2 Gene

Publications for DNAH2 Gene

  1. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PMID: 9256245) Chapelin C … Amselem S (FEBS letters 1997) 2 3 4
  2. 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
  3. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PMID: 19430480) Barrett JC … Type 1 Diabetes Genetics Consortium (Nature genetics 2009) 3 41
  4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3

Products for DNAH2 Gene

Sources for DNAH2 Gene