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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
  • Dynein Heavy Chain 2, Axonemal 3 4
  • Ciliary Dynein Heavy Chain 2 3 4
  • DNAHC2 3 4
  • DNHD3 3 4
  • 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 Adamantinous Craniopharyngioma and Papillary Craniopharyngioma. 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 DNAH6.

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

GeneHancer (GH) Regulatory Elements for DNAH2 Gene

Promoters and enhancers for DNAH2 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
GH17J007716 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 +0.0 25 2.4 ELF3 SP1 CTCF ZNF148 ZSCAN21 ZBTB7A YY1 ELF1 SP7 KLF14 DNAH2 DVL2 SNORD10 CNTROB CTC1 SNORA48 WRAP53 ENSG00000265749 PFAS PLSCR3
GH17J007715 Enhancer 0.2 ENCODE 600.7 -1.3 -1336 0.2 DNAH2 GC17M007714
GH17J007684 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.4 -30.5 -30547 5.6 HDGF MTA3 ZNF652 SP1 CC2D1A ELF3 CTCF MNT SIX5 ZNF148 WRAP53 GC17M007687 GC17P007868 TP53 GC17P007860 DVL2 CTC1 PFAS CNTROB SNORD10
GH17J007625 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.6 -89.1 -89131 5.8 SP1 ZNF652 CC2D1A ZFX ELF3 CBFA2T2 POLR2A RERE ZNF687 TFE3 SAT2 GC17P007832 GC17P007863 GC17P007831 SHBG CHRNB1 DVL2 TP53 WRAP53 CYB5D1
GH17J007613 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.6 -103.0 -103049 3.4 SP1 ZFX CTCF NKRF ZNF384 ZNF687 FOS YY1 SP7 ZNF548 SHBG FXR2 TNFSF12 SNORD10 SOX15 MPDU1 ENSG00000233223 DVL2 ATP1B2 SNORA48
- 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 UCSC Golden Path with GeneCards custom track

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; 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:
  • 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: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
GO:0045503 dynein light chain binding IBA 21873635
genes like me logo Genes that share ontologies with DNAH2: view

Phenotypes for DNAH2 Gene

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

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for DNAH2 - Now 50% OFF >
  • * DNAH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DNAH2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
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

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) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for DNAH2 Gene

Dynein, axonemal, heavy chain 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for DNAH2 - Now 50% OFF >
  • * DNAH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DNAH2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 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

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 35 34
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNAH2 35 34
  • 89.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH2 35 34
  • 87.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah2 34
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Dnah2 17 35 34
  • 86.43 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 36 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia DNAH2 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah2 34
  • 70.71 (n)
zebrafish
(Danio rerio)
Actinopterygii AL935046.1 35
  • 68 (a)
OneToOne
LOC556023 34
  • 67.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta kl-2 35 34
  • 30.26 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToOne
Cin.13463 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13463 34
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)
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 from dbSNP and Humsavar for DNAH2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs7213894 benign, not specified, - 7,819,047(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs116930996 likely-benign, not specified 7,832,924(+) C/A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs117035657 likely-benign, not specified 7,733,179(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs118057786 likely-benign, not specified 7,759,801(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060499854 uncertain-significance, not specified 7,771,420(+) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_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)

Additional Variant Information for DNAH2 Gene

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

Disorder Aliases PubMed IDs
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
papillary craniopharyngioma
  • craniopharyngioma, papillary
- 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 58
  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 58
  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 58
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 58
  5. 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 58

Products for DNAH2 Gene

Sources for DNAH2 Gene

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