Aliases for DNAH12 Gene
Aliases for DNAH12 Gene
- Dynein Axonemal Heavy Chain 12 2 3 5
- Dynein Heavy Chain Domain-Containing Protein 2 3 4
- Dynein, Axonemal, Heavy Polypeptide 12 2 3
- Axonemal Beta Dynein Heavy Chain 12 3 4
- Ciliary Dynein Heavy Chain 12 3 4
- DNAH12L 3 4
- DNAH7L 3 4
- DNAHC3 3 4
- DNHD2 3 4
- DLP12 3 4
- HDHC3 3 4
- DHC3 3 4
- HL19 3 4
- Axonemal Dynein Heavy Chain 12-Like Protein 4
- Axonemal Dynein Heavy Chain 7-Like Protein 4
- Dynein, Axonemal, Heavy Chain 12-Like 2
- Dynein, Axonemal, Heavy Chain 7-Like 2
- Axonemal Dynein Heavy Chain Isotype3 3
- Dynein Heavy Chain 7-Like, Axonemal 4
- Dynein Heavy Chain 12, Axonemal 3
- Dynein Heavy Chain Domain 2 2
- Dynein Heavy Domain 2 2
- Dynein, Heavy Chain-5 3
- DNAHC12 3
- HL-19 3
- DLP3 3
External Ids for DNAH12 Gene
- HGNC: 2943
- Entrez Gene: 201625
- Ensembl: ENSG00000174844
- OMIM: 603340
- UniProtKB: Q6ZR08
Previous HGNC Symbols for DNAH12 Gene
- DNHD2
- DNAH12L
- DNAH7L
Previous GeneCards Identifiers for DNAH12 Gene
- GC03M056215
- GC03M056785
- GC03M057285
- GC03M057406
- GC03U900611
- GC03M057432
Summaries for DNAH12 Gene
GeneCards Summary for DNAH12 Gene
DNAH12 (Dynein Axonemal Heavy Chain 12) is a Protein Coding gene. Diseases associated with DNAH12 include Rectum Adenocarcinoma and Adamantinous 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.
UniProtKB/Swiss-Prot for DNAH12 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 DNAH12 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH12 Gene
Genomics for DNAH12 Gene
GeneHancer (GH) Regulatory Elements for DNAH12 Gene
- Top Transcription factor binding sites by QIAGEN in the DNAH12 gene promoter:
Regulatory Element Products
Genomic Locations for DNAH12 Gene
- chr3:57,293,699-57,544,344
- (GRCh38/hg38)
- Size:
- 250,646 bases
- Orientation:
- Minus strand
- chr3:57,327,727-57,530,071
- (GRCh37/hg19)
Genomic View for DNAH12 Gene
- Cytogenetic band:
-
- 3p14.3 by Ensembl
- 3p14.3 by Entrez Gene
- 3p14.3 by HGNC


RefSeq DNA sequence for DNAH12 Gene
Proteins for DNAH12 Gene
-
Protein details for DNAH12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZR08-DYH12_HUMAN
- Recommended name:
- Dynein heavy chain 12, axonemal
- Protein Accession:
- Q6ZR08
- A6NGI2
- Q6ZTR8
- Q8N7R9
- Q8WXK2
- Q92816
Protein attributes for DNAH12 Gene
- Size:
- 3092 amino acids
- Molecular mass:
- 356942 Da
- Quaternary structure:
-
- Consists of at least two heavy chains and a number of intermediate and light chains.
- SequenceCaution:
-
- Sequence=AAB09729.1; Type=Frameshift; Positions=1211, 1213, 1215; Evidence={ECO:0000305};
Protein Expression for DNAH12 Gene
Post-translational modifications for DNAH12 Gene
Other Protein References for DNAH12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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No data available for DME Specific Peptides for DNAH12 Gene
Domains & Families for DNAH12 Gene
Gene Families for DNAH12 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for DNAH12 Gene
Suggested Antigen Peptide Sequences for DNAH12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6ZR08UniProtKB/Swiss-Prot:
DYH12_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 DNAH12 Gene
Molecular function for DNAH12 Gene
- GENATLAS Biochemistry:
- dynein,axonemal,motor protein interacting with microtubules,heavy chain 12,predominantly 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 DNAH12 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003774 | motor activity | IEA | -- |
GO:0003777 | microtubule motor activity | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0016887 | ATPase activity | IEA | -- |
Phenotypes for DNAH12 Gene
- GenomeRNAi human phenotypes for DNAH12:
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAH12 Gene
Localization for DNAH12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DNAH12 Gene
- Cytoplasm, cytoskeleton, cilium axoneme.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005874 | microtubule | IEA | -- |
GO:0005929 | cilium | IEA | -- |
GO:0030286 | dynein complex | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAH12 Gene
Pathways & Interactions for DNAH12 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
Pathways by source for DNAH12 Gene
1 KEGG pathway for DNAH12 Gene
Interacting Proteins for DNAH12 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007018 | microtubule-based movement | IEA | -- |
No data available for SIGNOR curated interactions for DNAH12 Gene
Transcripts for DNAH12 Gene
mRNA/cDNA for DNAH12 Gene
- (13) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (27) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DNAH12 Gene
CRISPR Products
-
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-
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Expression for DNAH12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
- Gut Tube (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for DNAH12 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH12 Gene
NURSA nuclear receptor signaling pathways regulating expression of DNAH12 Gene:
DNAH12SOURCE GeneReport for Unigene cluster for DNAH12 Gene:
Hs.201378Primer Products
-
OriGene qPCR primer pairs for DNAH12
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No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH12 Gene
Orthologs for DNAH12 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DNAH12 34 |
|
OneToOne | |
LOC101057013 33 |
|
||||
cow (Bos Taurus) |
Mammalia | LOC100847355 33 |
|
||
dog (Canis familiaris) |
Mammalia | DNAH12 33 |
|
||
mouse (Mus musculus) |
Mammalia | Dnah12 33 16 |
|
||
rat (Rattus norvegicus) |
Mammalia | Dnah12 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH12 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DNAH12 33 |
|
||
tropical clawed frog (Silurana tropicalis) |
Amphibia | dnah12 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | dnah12 33 |
|
||
Dr.21649 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5532 33 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011441 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Dhc62B 33 |
|
- Species where no ortholog for DNAH12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for DNAH12 Gene
(13) SIMAP similar genes for DNAH12 Gene using alignment to 6 proteins:
No data available for Paralogs for DNAH12 Gene
Variants for DNAH12 Gene
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12053975 | benign, not specified | 57,352,120(-) | C/G | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant | |
rs17793014 | benign, not specified | 57,428,370(-) | T/A | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
rs2121743 | benign, not specified | 57,446,258(-) | G/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, synonymous_variant | |
rs4060726 | benign, not specified | 57,301,848(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs4462937 | benign, not specified | 57,428,707(-) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv286n21 | CNV | loss | 19592680 |
dgv8337n54 | CNV | loss | 21841781 |
esv1245160 | OTHER | inversion | 17803354 |
esv1990047 | CNV | deletion | 18987734 |
esv2470376 | CNV | deletion | 19546169 |
esv2517054 | CNV | deletion | 19546169 |
esv2658591 | CNV | deletion | 23128226 |
esv2673906 | CNV | deletion | 23128226 |
esv2725309 | CNV | deletion | 23290073 |
esv3575575 | CNV | gain | 25503493 |
esv3596228 | CNV | loss | 21293372 |
esv3596230 | CNV | loss | 21293372 |
esv3596231 | CNV | loss | 21293372 |
esv3596233 | CNV | loss | 21293372 |
esv3893699 | CNV | loss | 25118596 |
nsv1008684 | CNV | gain | 25217958 |
nsv1123654 | CNV | deletion | 24896259 |
nsv1123655 | CNV | deletion | 24896259 |
nsv1127961 | CNV | deletion | 24896259 |
nsv1129694 | CNV | tandem duplication | 24896259 |
nsv1131701 | CNV | deletion | 24896259 |
nsv3836 | CNV | insertion | 18451855 |
nsv460558 | CNV | loss | 19166990 |
nsv474059 | CNV | novel sequence insertion | 20440878 |
nsv474169 | CNV | novel sequence insertion | 20440878 |
nsv474341 | CNV | novel sequence insertion | 20440878 |
nsv474589 | CNV | novel sequence insertion | 20440878 |
nsv475279 | CNV | novel sequence insertion | 20440878 |
nsv475523 | CNV | novel sequence insertion | 20440878 |
nsv475531 | CNV | novel sequence insertion | 20440878 |
nsv476860 | CNV | novel sequence insertion | 20440878 |
nsv477218 | CNV | novel sequence insertion | 20440878 |
nsv477794 | CNV | novel sequence insertion | 20440878 |
nsv477993 | CNV | novel sequence insertion | 20440878 |
nsv479108 | CNV | novel sequence insertion | 20440878 |
nsv479109 | CNV | novel sequence insertion | 20440878 |
nsv479477 | CNV | novel sequence insertion | 20440878 |
nsv479717 | CNV | novel sequence insertion | 20440878 |
nsv479758 | CNV | novel sequence insertion | 20440878 |
nsv479860 | CNV | novel sequence insertion | 20440878 |
nsv479868 | CNV | novel sequence insertion | 20440878 |
nsv480078 | CNV | novel sequence insertion | 20440878 |
nsv480098 | CNV | novel sequence insertion | 20440878 |
nsv480337 | CNV | novel sequence insertion | 20440878 |
nsv480456 | CNV | novel sequence insertion | 20440878 |
nsv480462 | CNV | novel sequence insertion | 20440878 |
nsv480481 | CNV | novel sequence insertion | 20440878 |
nsv480618 | CNV | novel sequence insertion | 20440878 |
nsv480759 | CNV | novel sequence insertion | 20440878 |
nsv480905 | CNV | novel sequence insertion | 20440878 |
nsv480962 | CNV | novel sequence insertion | 20440878 |
nsv481092 | CNV | novel sequence insertion | 20440878 |
nsv481279 | CNV | novel sequence insertion | 20440878 |
nsv481311 | CNV | novel sequence insertion | 20440878 |
nsv481403 | CNV | novel sequence insertion | 20440878 |
nsv481422 | CNV | novel sequence insertion | 20440878 |
nsv481544 | CNV | novel sequence insertion | 20440878 |
nsv481591 | CNV | novel sequence insertion | 20440878 |
nsv508931 | CNV | insertion | 20534489 |
nsv515675 | CNV | loss | 19592680 |
nsv590364 | CNV | loss | 21841781 |
nsv590367 | CNV | loss | 21841781 |
nsv590368 | CNV | gain | 21841781 |
nsv822100 | CNV | gain | 20364138 |
Additional Variant Information for DNAH12 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH12 Gene
Disorders for DNAH12 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
rectum adenocarcinoma |
|
|
adamantinous craniopharyngioma |
|
|
papillary craniopharyngioma |
|
|
Additional Disease Information for DNAH12
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH12 Gene
Publications for DNAH12 Gene
- Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PMID: 8666668) Vaisberg EA … McIntosh JR (The Journal of cell biology 1996) 2 3 4 58
- A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 44 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PMID: 20886065) Cleynen I … Vermeire S (PloS one 2010) 3 44 58
- The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 58
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Sources for DNAH12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
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