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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
  • Axonemal Dynein Heavy Chain Isotype3 3
  • Dynein, Axonemal, Heavy Chain 7-Like 2
  • Dynein Heavy Chain 7-Like, Axonemal 4
  • Dynein Heavy Chain 12, Axonemal 3
  • Dynein Heavy Chain Domain 2 2
  • Dynein, Heavy Chain-5 3
  • Dynein Heavy Domain 2 2
  • DNAHC12 3
  • HL-19 3
  • DLP3 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 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.

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

Promoters and enhancers for DNAH12 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
GH03J057543 Promoter/Enhancer 1.2 Ensembl ENCODE 650.7 0.0 -46 0.8 MXI1 TFAP4 PKNOX1 SAP130 MAX ARID4B MZF1 SIN3A FEZF1 BMI1 DNAH12 ARF4 SLMAP GC03P057548
GH03J057169 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 9.8 +374.1 374143 0.8 ELF3 PKNOX1 RB1 ARID4B MZF1 ZNF2 ZNF48 RAD21 ZEB1 ZNF335 IL17RD APPL1 HESX1 PDE12 ASB14 DNAH12 DENND6A DENND6A-DT SLMAP LOC105377101
GH03J057450 Enhancer 1 ENCODE 16.5 +93.0 93004 2.5 FOXA2 MLX ARID4B SIN3A ETS1 SLC30A9 TCF12 ATF7 DEK NFKBIZ DNAH12 DENND6A RNU6-1181P ASB14 DENND6A-DT ARF4 SLMAP GC03P057493
GH03J057594 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.5 -53.2 -53227 6 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D GLIS1 NBN ARF4 ARF4-AS1 GC03P057599 DENND6A FAM208A DENND6A-AS1 PDE12 DENND6A-DT APPL1 HESX1
GH03J057199 Promoter/Enhancer 1.1 EPDnew ENCODE 10.3 +344.2 344152 0.8 USF1 NANOG MAX SIN3A USF2 SP1 POLR2A POU5F1 EZH2 HESX1 GC03P057200 APPL1 IL17RD PDE12 ASB14 DNAH12 ARHGEF3 GC03M057226
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAH12 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DNAH12 Gene

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

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 StructureGene Density

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
    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

Post-translational modifications for DNAH12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for DNAH12 Gene

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

Molecular function for DNAH12 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 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

Phenotypes From GWAS Catalog for DNAH12 Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with DNAH12: view
genes like me logo Genes that share phenotypes with DNAH12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH12

Clone 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.

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 DNAH12 gene
Compartment Confidence
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for DNAH12 Gene

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 --
genes like me logo Genes that share ontologies with DNAH12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

Gene Ontology (GO) - Biological Process for DNAH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
genes like me logo Genes that share ontologies with DNAH12: view

No data available for SIGNOR curated interactions for DNAH12 Gene

Drugs & Compounds for DNAH12 Gene

No Compound Related Data Available

Transcripts for DNAH12 Gene

Unigene Clusters for DNAH12 Gene

Dynein, axonemal, heavy chain 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH12

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for DNAH12 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH12 Gene:

DNAH12

SOURCE GeneReport for Unigene cluster for DNAH12 Gene:

Hs.201378
genes like me logo Genes that share expression patterns with DNAH12: view

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.

Orthologs for DNAH12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAH12 34
  • 98 (a)
OneToOne
LOC101057013 33
  • 97.84 (n)
cow
(Bos Taurus)
Mammalia LOC100847355 33
  • 90.34 (n)
dog
(Canis familiaris)
Mammalia DNAH12 33
  • 90.08 (n)
mouse
(Mus musculus)
Mammalia Dnah12 16 33
  • 86.34 (n)
rat
(Rattus norvegicus)
Mammalia Dnah12 33
  • 85.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH12 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH12 33
  • 73.32 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah12 33
  • 69.13 (n)
zebrafish
(Danio rerio)
Actinopterygii dnah12 33
  • 66.58 (n)
Dr.21649 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5532 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011441 33
  • 51.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dhc62B 33
  • 50.63 (n)
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)

Evolution for DNAH12 Gene

ENSEMBL:
Gene Tree for DNAH12 (if available)
TreeFam:
Gene Tree for DNAH12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAH12: view image

Paralogs for DNAH12 Gene

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

  • DYH12_HUMAN
  • E9PG32_HUMAN
  • H7C5N3_HUMAN
  • H7C5R2_HUMAN
  • H7C5S4_HUMAN
  • J3QTM1_HUMAN
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 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

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

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

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)

Additional Variant Information for DNAH12 Gene

Human Gene Mutation Database (HGMD)
DNAH12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH12 Gene

Disorders for DNAH12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAH12 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
papillary craniopharyngioma
  • craniopharyngioma, papillary
rectum adenocarcinoma
  • adenocarcinoma of rectum
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAH12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EA … McIntosh JR (The Journal of cell biology 1996) 2 3 4 58
  2. 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
  3. 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
  4. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PMID: 20886065) Cleynen I … Vermeire S (PloS one 2010) 3 44 58
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 58

Products for DNAH12 Gene

Sources for DNAH12 Gene

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