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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
  • Ciliary Dynein Heavy Chain 2 3 4
  • DNAHC2 3 4
  • DNHD3 3 4
  • Dynein Heavy Chain 2, Axonemal 3
  • Dynein Heavy Chain Domain 3 2
  • KIAA1503 4

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 Adamantinous Craniopharyngioma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 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).

Additional gene information for DNAH2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH2 Gene

Genomics for DNAH2 Gene

Regulatory Elements for DNAH2 Gene

Enhancers for DNAH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H007684 1.4 ENCODE dbSUPER 12.4 -30.6 -30569 5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DVL2 PFAS CTC1 SNORD10 SNORA48 MIR324 CYB5D1 CNTROB DNAH2 EIF4A1
GH17H008055 1.3 Ensembl ENCODE 10.1 +339.6 339558 2 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ATF7 LOC107985075 NAA38 GUCY2D ALOX12B KCNAB3 TRAPPC1 CNTROB SCARNA21 CHD3 CYB5D1
GH17H007625 1.1 ENCODE 10.6 -89.1 -89131 5 FOXA2 PKNOX1 ARID4B DMAP1 YY1 TCF12 GLIS2 ZNF416 ATF7 RUNX3 SAT2 CHRNB1 DVL2 WRAP53 TP53 EFNB3 SENP3 DNAH2 KCNAB3 TRAPPC1
GH17H007613 1 ENCODE 10.6 -102.8 -102793 2 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 GTF3C2 GLIS2 ZNF143 ZNF207 DVL2 SNORD10 PFAS WRAP53 SNORA48 CTC1 TP53 CNTROB ENSG00000265749 TNFSF12
GH17H007773 0.9 ENCODE 11.3 +57.2 57165 1 ELF3 TBP ARID4B RARA RFX5 POLR3A SMARCC2 RCOR1 FOS DEK NEURL4 DNAH2 SENP3 EFNB3 WRAP53 ATP1B2 ALOX15B GC17M007773 GC17M007753
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAH2 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090894 46 1201 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF302 SP3 REST KAT8 ZNF610

Genomic Location for DNAH2 Gene

Chromosome:
17
Start:
7,717,354 bp from pter
End:
7,833,744 bp from pter
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; Positions=3963; Evidence={ECO:0000305}; Sequence=BAA96027.2; Type=Erroneous initiation; 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

Suggested Antigen Peptide Sequences for DNAH2 Gene

GenScript: Design optimal peptide antigens:

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

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
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).

Phenotypes From GWAS Catalog for DNAH2 Gene

Gene Ontology (GO) - Molecular Function for DNAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH2: view

Phenotypes for DNAH2 Gene

GenomeRNAi human phenotypes for DNAH2:
genes like me logo Genes that share phenotypes with DNAH2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

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
peroxisome 1
cytosol 1

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

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

Pathways by source for DNAH2 Gene

1 KEGG pathway for DNAH2 Gene

Interacting Proteins 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 --
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

(11) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAH2 Gene

Dynein, axonemal, heavy chain 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DNAH2 Gene

GeneLoc Exon Structure for
DNAH2
ECgene alternative splicing isoforms for
DNAH2

Expression for DNAH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DNAH2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH2 Gene:

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.

Evidence on tissue expression from TISSUES for DNAH2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with DNAH2: view

Primer Products

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 33 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia DNAH2 33 34
  • 89.05 (n)
dog
(Canis familiaris)
Mammalia DNAH2 33 34
  • 87.71 (n)
rat
(Rattus norvegicus)
Mammalia Dnah2 33
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Dnah2 33 16 34
  • 86.43 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH2 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 36 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia DNAH2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah2 33
  • 70.71 (n)
zebrafish
(Danio rerio)
Actinopterygii AL935046.1 34
  • 68 (a)
OneToOne
LOC556023 33
  • 67.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta kl-2 33 34
  • 30.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13463 33
Species where no ortholog for DNAH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for DNAH2 Gene

Pseudogenes.org Pseudogenes for DNAH2 Gene

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

Variants for DNAH2 Gene

Sequence variations from dbSNP and Humsavar for DNAH2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000001844 -- 7,725,677(+) GATTC(A/G)CCCCC intron-variant
rs1000017991 -- 7,716,622(+) GCTGG(A/G)ATAGG upstream-variant-2KB
rs1000179103 -- 7,762,335(+) CTTTT(-/C)TTTTT intron-variant
rs1000188336 -- 7,722,801(+) CTGAG(C/G/T)TGTTG intron-variant
rs1000216210 -- 7,769,606(+) TCTTT(A/C)CTCTA intron-variant

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)

Relevant External Links for DNAH2 Gene

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

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

Disorders for DNAH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAH2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
papillary craniopharyngioma
  • craniopharyngioma, papillary
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
central nervous system organ benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search DNAH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH2

Genetic Association Database (GAD)
DNAH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. 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 45 60
  3. 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 60
  4. Identification of proteins associated with ligand-activated estrogen receptor α in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PMID: 21182205) Tarallo R … Weisz A (Proteomics 2011) 3 60
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 60

Products for DNAH2 Gene

Sources for DNAH2 Gene

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