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DNAH12 Gene(Protein Coding)

Dynein Axonemal Heavy Chain 12

GCID:
GC03M057388
GIFtS:
47
Genes Participants
UDN Logo

Aliases for DNAH12 Gene

Aliases for DNAH12 Gene

  • Dynein Axonemal Heavy Chain 12 2 3
  • Dynein Heavy Chain Domain-Containing Protein 2 3 4
  • Dynein, Axonemal, Heavy Polypeptide 12 2 3
  • Axonemal Beta Dynein Heavy Chain 12 3 4
  • Dynein, Axonemal, Heavy Chain 12 3 5
  • 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 Domain 2 2
  • Dynein Heavy Domain 2 2
  • Dynein, Heavy Chain-5 3
  • DNAHC12 3
  • HL-19 3

External Ids for DNAH12 Gene

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 Papillary 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.

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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH12 Gene

Genomics for DNAH12 Gene

Products:

  1. Regulatory Element

Regulatory Elements for DNAH12 Gene

Enhancers for DNAH12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNAH12 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAH12 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DNAH12 gene promoter:

Genomic Location for DNAH12 Gene

Chromosome:
3
Start:
57,293,699 bp from pter
End:
57,544,344 bp from pter
Size:
250,646 bases
Orientation:
Minus strand

Genomic View for DNAH12 Gene

Genes around DNAH12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNAH12 Gene

Proteins for DNAH12 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DNAH12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZR08-DYH12_HUMAN
    Recommended name:
    Dynein heavy chain 12, axonemal
    Protein Accession:
    Q6ZR08
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for DNAH12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH12 Gene

Proteomics data for DNAH12 Gene at MOPED

Protein Expression for DNAH12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DNAH12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAH12 Gene

Domains & Families for DNAH12 Gene

Gene Families for DNAH12 Gene

HGNC:

Protein Domains for DNAH12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAH12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZR08

UniProtKB/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.
genes like me logo Genes that share domains with DNAH12: view

Function for DNAH12 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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).

Gene Ontology (GO) - Molecular Function for DNAH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH12: view

Phenotypes for DNAH12 Gene

GenomeRNAi human phenotypes for DNAH12:
genes like me logo Genes that share phenotypes with DNAH12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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.

Gene Ontology (GO) - Cellular Components for DNAH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DNAH12: view

No data available for Subcellular locations from COMPARTMENTS for DNAH12 Gene

Pathways & Interactions for DNAH12 Gene

genes like me logo Genes that share pathways with DNAH12: view

Pathways by source for DNAH12 Gene

1 KEGG pathway for DNAH12 Gene

Interacting Proteins for DNAH12 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312554%0d%0a9606.ENSP00000287380%0d%0a9606.ENSP00000380378%0d%0a9606.ENSP00000300249%0d%0a9606.ENSP00000364721%0d%0a9606.ENSP00000233121%0d%0a
Selected Interacting proteins: ENSP00000312554 for DNAH12 Gene via STRING

Gene Ontology (GO) - Biological Process for DNAH12 Gene

None

No data available for SIGNOR curated interactions for DNAH12 Gene

Drugs & Compounds for DNAH12 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DNAH12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for DNAH12 Gene

(12) 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

Dynein, axonemal, heavy chain 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH12 Gene

No ASD Table

Relevant External Links for DNAH12 Gene

GeneLoc Exon Structure for
DNAH12
ECgene alternative splicing isoforms for
DNAH12

Expression for DNAH12 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for DNAH12 Gene

mRNA expression in normal human tissues for DNAH12 Gene
mRNA expression by BioGPS for DNAH12 GenemRNA expression by GTEx for DNAH12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH12 Gene

This gene is overexpressed in Testis (x14.2), Fallopian Tube (x6.7), Lung (x4.9), and Cervix - Endocervix (x4.5).

Protein differential expression in normal tissues from HIPED for DNAH12 Gene

This gene is overexpressed in Stomach (24.4), Plasma (16.2), and Blymphocyte (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH12 Gene



SOURCE GeneReport for Unigene cluster for DNAH12 Gene Hs.201378

genes like me logo Genes that share expression patterns with DNAH12: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DNAH12 Gene

Orthologs for DNAH12 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia LOC100847355 35
  • 90.34 (n)
  • 91.03 (a)
dog
(Canis familiaris)
 Mammalia DNAH12 35
  • 90.08 (n)
  • 90.33 (a)
mouse
(Mus musculus)
 Mammalia Dnah12 35
  • 86.34 (n)
  • 87.3 (a)
Dnah12 16
chimpanzee
(Pan troglodytes)
 Mammalia LOC101057013 35
  • 97.84 (n)
  • 97.09 (a)
DNAH12 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dnah12 35
  • 85.4 (n)
  • 86.81 (a)
platypus
(Ornithorhynchus anatinus)
 Mammalia DNAH12 36
  • 40 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DNAH12 35
  • 73.32 (n)
  • 74.08 (a)
tropical clawed frog
(Silurana tropicalis)
 Amphibia dnah12 35
  • 69.13 (n)
  • 74.77 (a)
zebrafish
(Danio rerio)
 Actinopterygii dnah12 35
  • 66.58 (n)
  • 70.02 (a)
Dr.21649 35
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5532 35
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011441 35
  • 51.36 (n)
  • 47.96 (a)
fruit fly
(Drosophila melanogaster)
 Insecta Dhc62B 35
  • 50.63 (n)
  • 46.75 (a)
Species with no ortholog for DNAH12:
  • 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)

Evolution for DNAH12 Gene

ENSEMBL:
Gene Tree for DNAH12 (if available)
TreeFam:
Gene Tree for DNAH12 (if available)

Paralogs for DNAH12 Gene

(13) SIMAP similar genes for DNAH12 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for DNAH12 Gene

genes like me logo Genes that share paralogs with DNAH12: view

No data available for Paralogs for DNAH12 Gene

Variants for DNAH12 Gene

Sequence variations from dbSNP and Humsavar for DNAH12 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs9311651 - 57,542,776(+) TATCA(A/G)CGCCT reference, missense
rs6778837 - 57,510,843(+) TGAGA(C/T)TTTCA reference, missense
rs6445902 - 57,508,411(+) ACTGT(A/C)TCAGC reference, missense
rs7629743 - 57,508,392(+) TCCTG(C/T)GAAGT reference, missense
rs17057989 - 57,310,790(+) ACTTA(A/T)AATGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAH12 Gene

Variant ID Type Subtype PubMed ID
nsv3836 CNV Insertion 18451855
nsv508931 CNV Insertion 20534489
esv1245160 OTHER Inversion 17803354
dgv5141n71 CNV Loss 21882294
nsv822100 CNV Gain 20364138
nsv460558 CNV Loss 19166990
esv2470376 CNV Deletion 19546169
dgv5142n71 CNV Loss 21882294
dgv286n21 CNV Loss 19592680
dgv5143n71 CNV Loss 21882294
nsv876828 CNV Gain+Loss 21882294
nsv515675 CNV Loss 19592680
esv2517054 CNV Deletion 19546169
esv1990047 CNV Deletion 18987734
esv2673906 CNV Deletion 23128226
esv2725309 CNV Deletion 23290073
esv2658591 CNV Deletion 23128226

Variation tolerance for DNAH12 Gene

Residual Variation Intolerance Score: 91.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.49; 98.58% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DNAH12 Gene

Disorders for DNAH12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAH12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
papillary craniopharyngioma
  • craniopharyngioma, papillary
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DNAH12

Genetic Association Database (GAD)
DNAH12
Human Genome Epidemiology (HuGE) Navigator
DNAH12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH12
genes like me logo Genes that share disorders with DNAH12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH12 Gene

Publications for DNAH12 Gene

  1. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PMID: 8666668) Vaisberg E.A. … McIntosh J.R. (J. Cell Biol. 1996) 2 3 4 67
  2. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan K.T. … Vallee R.B. (Genomics 1996) 2 3
  3. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PMID: 20886065) Cleynen I. … Vermeire S. (PLoS ONE 2010) 3

Products for DNAH12 Gene

Sources for DNAH12 Gene

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