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GIFtS

DNAH12 Gene

protein-coding   GIFtS: 46
GCID: GC03M057406

Dynein, Axonemal, Heavy Chain 12

(Previous names: dynein, axonemal, heavy polypeptide 12, dynein heavy chain...)
(Previous symbols: DNHD2, DNAH12L, DNAH7L)
  3 related diseases
at
MalaCards
 

Aliases
for DNAH12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Dynein, Axonemal, Heavy Chain 121 2     Dynein Heavy Chain Domain 21
DNAH12L1 2 3     Dynein Heavy Domain 21
DNAH7L1 2 3     Dynein, Axonemal, Heavy Chain 12-Like1
DNHD21 2 3     Dynein, Axonemal, Heavy Chain 7-Like1
DNAHC32 3 5     DNAHC122
HL192 3 5     HL-192
Dynein, Axonemal, Heavy Polypeptide 121 2     Axonemal Dynein Heavy Chain Isotype32
Axonemal Beta Dynein Heavy Chain 122 3     Dynein Heavy Chain 12, Axonemal2
Ciliary Dynein Heavy Chain 122 3     Dynein, Heavy Chain-52
Dynein Heavy Chain Domain-Containing Protein 22 3     Axonemal Dynein Heavy Chain 12-Like Protein3
DHC32 3     Axonemal Dynein Heavy Chain 7-Like Protein3
DLP122 3     Dynein Heavy Chain 7-Like, Axonemal3
HDHC32 3     

External Ids:    HGNC: 29431   Entrez Gene: 2016252   Ensembl: ENSG000001748447   OMIM: 6033405   UniProtKB: Q6ZR083   

Export aliases for DNAH12 gene to outside databases

Previous GC identifers: GC03M056215 GC03M056785 GC03M057285 GC03M057388 GC03U900611 GC03M057432


Summaries
for DNAH12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for DNAH12 Gene: 
DNAH12 (dynein, axonemal, heavy chain 12) is a protein-coding gene. Diseases associated with DNAH12 include primary ciliary dyskinesia, and situs inversus. GO annotations related to this gene include microtubule motor activity and ATPase activity.

UniProtKB/Swiss-Prot: DYH12_HUMAN, Q6ZR08
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)




Genomic Views
for DNAH12 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAH12 gene promoter:
         USF-1   Nkx2-2   Zic1   POU6F1 (c2)   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DNAH12 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAH12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAH12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p21.1

DNAH12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH12 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M057406:  view genomic region     (about GC identifiers)

Start:
 57,327,727 bp from pter      End:
 57,530,071 bp from pter
Size:
 202,345 bases      Orientation:
 minus strand

1 alternative location:
Chr3-,NW_003315911 16,574-78,468     

Proteins
for DNAH12 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: DYH12_HUMAN, Q6ZR08 (See protein sequence)
Recommended Name: Dynein heavy chain 12, axonemal  
Size: 3092 amino acids; 356942 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (Potential)
Caution: Was originally derived from a readthrough transcript including ASB14 and DNAH12. DNHD2 was thought to be
a distinct gene
Sequence caution: Sequence=AAB09729.1; Type=Frameshift; Positions=1211, 1213, 1215;
Secondary accessions: A6NGI2 Q6ZTR8 Q8N7R9 Q8WXK2 Q92816
Alternative splicing: 4 isoforms:  Q6ZR08-1   Q6ZR08-4   Q6ZR08-2   Q6ZR08-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAH12: NX_Q6ZR08

Explore proteomics data for DNAH12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZR08

    • DNAH12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNAH12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_848599.3  NP_940966.2  

    ENSEMBL proteins: 
     ENSP00000420554   ENSP00000420717   ENSP00000420359   ENSP00000418137   ENSP00000374187  
     ENSP00000312554   ENSP00000295937   ENSP00000340464  

    Human Recombinant Protein Products for DNAH12: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DNAH12 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005874microtubule IEA--
    GO:0030286dynein complex IEA--
    GO:0035085cilium axoneme IEA--

    DNAH12 for ontologies           About GeneDecksing



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    Novus Biologicals DNAH12 Antibody
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    LSBio Antibodies in human, mouse, rat for DNAH12 

    Assay Products for DNAH12: 
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    Cloud-Clone Corp. ELISAs for DNAH12 
    Cloud-Clone Corp. CLIAs for DNAH12

    Protein Domains /
    Families
    for DNAH12 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 HGNC Gene Families: 
    DN: Axonemal dyneins

    5/7 InterPro protein domains (see all 7):
     IPR004273 Dynein_heavy_dom
     IPR024317 Dynein_heavy_chain_D4_dom
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q6ZR08

    ProtoNet protein and cluster: Q6ZR08

    UniProtKB/Swiss-Prot: DYH12_HUMAN, Q6ZR08
    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)
    Similarity: Belongs to the dynein heavy chain family


    DNAH12 for domains           About GeneDecksing


    Function
    for DNAH12 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYH12_HUMAN, Q6ZR08
    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 entry for DNAH12:
    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

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    DNAH12 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNAH12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DNAH12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNAH12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNAH12 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: DNAH12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for DNAH12 (see all 6)
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    GenScript: all cDNA clones in your preferred vector (see all 2): DNAH12 (NM_178504)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAH12
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH12


    Pathways & Interactions
    for DNAH12 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAH12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/35 Interacting proteins for DNAH12 (ENSP000002959374) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCTN2ENSP000004089104STRING: ENSP00000408910
    DNAH1ENSP000004015144STRING: ENSP00000401514
    DNAH10ENSP000003867704STRING: ENSP00000386770
    DNAH14ENSP000004144024STRING: ENSP00000414402
    DNAH17ENSP000003744904STRING: ENSP00000374490
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement IEA--

    DNAH12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DNAH12 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAH12 (DYH12)

    Search CenterWatch for drugs/clinical trials and news about DNAH12 / DYH12

    Transcripts
    for DNAH12 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DNAH12 gene (2 alternative transcripts): 
    NM_178504.4  NM_198564.3  

    Unigene Cluster for DNAH12:

    Dynein, axonemal, heavy chain 12
    Hs.201378  [show with all ESTs]
    Unigene Representative Sequence: NM_178504
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462199(uc010hnc.2) ENST00000462713 ENST00000494758 ENST00000479363
    ENST00000466540 ENST00000495027 ENST00000389536 ENST00000311202(uc003diu.2)
    ENST00000351747(uc003dit.2) ENST00000344804
    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DNAH12
    SwitchGear 3'UTR luciferase reporter plasmid: DNAH12 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): DNAH12 (NM_178504)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH12
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAH12
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH12

    Additional mRNA sequence: 

    AK097746.1 AK126276.1 AK128592.1 U53532.1 U61739.1 Z83802.1 

    15 DOTS entries:

    DT.95182652  DT.101975873  DT.95330640  DT.40281381  DT.97817310  DT.91742161  DT.99962580  DT.100735028 
    DT.120897565  DT.100020371  DT.120849697  DT.120907258  DT.120910527  DT.120919906  DT.40127276 

    24/27 AceView cDNA sequences (see all 27):

    CD557821 BU686274 BU677370 BE044379 CN478898 BM975826 BU607925 BU679845 
    CB851845 BX104748 BQ045249 AI005163 AW070294 AK097746 BG199370 AI982970 
    CB854608 AW182837 BG209757 BG194753 BG216642 AI682599 NM_178504 AK128592 

    GeneLoc Exon Structure


    Expression
    for DNAH12 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNAH12 expression in normal human tissues (normalized intensities)      DNAH12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACTGTGT
    DNAH12 Expression
    About this image


    DNAH12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   

    See DNAH12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAH12

    SOURCE GeneReport for Unigene cluster: Hs.201378
        SABiosciences Custom PCR Arrays for DNAH12
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    In Situ
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    Orthologs
    for DNAH12 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DNAH12 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dnahc121 , 5 dynein, axonemal, heavy chain 121, 5 86.33(n)1
    87.2(a)1    		   14 (16.09 cM)5
    1100831  XM_003085593.31  XP_003085641.31 
     266932745 
    chicken
    (Gallus gallus)    		 Aves DNAH121 dynein, axonemal, heavy chain 12 73.43(n)
    74.28(a)    		   416004  XM_414346.3  XP_414346.3 
    lizard
    (Anolis carolinensis)    		 Reptilia DNAH126
    		 dynein, axonemal, heavy chain 12
    		 13(a)
    		 1 ↔ 1
    		 GL343402.1(891371-904950)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.216492 Transcribed sequence with weak similarity to protein refNP_061720.1 (H.sapiens) axonemal dynein heavy chain 7 [Homo sapiens] less 77.04(n)    57048927 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Dhc62B1 Dynein heavy chain at 62B 50.52(n)
    46.35(a)    		   38226  NM_206236.2  NP_995958.2 


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

    Paralogs
    for DNAH12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNAH12 gene
    13 SIMAP similar genes for DNAH12 using alignment to 6 protein entries:     DYH12_HUMAN (see all proteins):
    Dnahc3    Dnahc11    Dnahc9    DNAH5    Dnchc1    DNAH10
    DNAH7    DNAH14    DNAH1    DNAH2    DNAH3    DNAH9
    DNAH11

    DNAH12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DNAH12
    PGOHUM00000262865


    Genomic Variants
    for DNAH12 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4324 SNPs in DNAH12 are shown (see all 4324)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1504981921,2
    		C,Funtested157528437(+) ACTGAA/G/TTAATT 4 N I mis11NA 4544
    rs46819681,2
    		C,F,H--57328867(+) GTCACG/TTTTCT 1 -- int120Minor allele frequency- T:0.14NA NS EA WA 1828
    rs177919631,2
    		C,F--57328906(+) TGAGAA/CTATTT 1 -- int13Minor allele frequency- C:0.01NA 142
    rs1379548471,2
    		--57329085(+) TGGGG-/CAAAAT 1 -- int10--------
    rs607018681,2
    		C,F--57329275(+) GTTCAA/GTCTGT 1 -- int14Minor allele frequency- G:0.21NA WA 242
    rs1926236621,2
    		C--57329299(+) GAAGTG/TGGGGG 1 -- int10--------
    rs1825867891,2
    		--57329541(+) GTTGAA/GAGAAT 1 -- int10--------
    rs1877257901,2
    		--57329684(+) AGATTC/GCTACT 1 -- int10--------
    rs1924987971,2
    		--57329857(+) AATGAC/TTGTCC 1 -- int10--------
    rs1851142511,2
    		--57329884(+) AAGGGA/TAACTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DNAH12 (57327727 - 57530071 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for DNAH12 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673906CNV Deletion23128226
    esv2470376CNV Deletion19546169
    esv2658591CNV Deletion23128226
    esv2517054CNV Deletion19546169
    esv2725309CNV Deletion23290073
    esv1990047CNV Deletion18987734
    nsv508931CNV Insertion20534489
    nsv3836CNV Insertion18451855
    dgv5142n71CNV Loss21882294
    nsv460558CNV Loss19166990

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    Disorders / Diseases
    for DNAH12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 603340    OMIM disorders: --

    3 diseases for DNAH12:    About MalaCards
    primary ciliary dyskinesia    situs inversus    crohn's disease

    1 disease from the University of Copenhagen DISEASES database for DNAH12:
    Primary ciliary dyskinesia

    DNAH12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DNAH12
    Human Genome Epidemiology (HuGE) Navigator: DNAH12 (2 documents)

    Export disorders for DNAH12 gene to outside databases

    Publications
    for DNAH12 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DNAH12 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with DNAH12)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PubMed id 8666668)1, 2, 3 Vaisberg E.A.... McIntosh J.R. (1996)
    2. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Molecular reclassification of Crohn's disease by clus ter analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (2010)
    5. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Multiple mouse chromosomal loci for dynein-based motility. (PubMed id 8812413)1, 3 Vaughan K.T....Vallee R.B. (1996)
    8. Genetic Risk Profiling And Prediction Of Disease Course In Crohn'S Disease Patients. (PubMed id 19422935)1 Henckaerts L....Vermeire S. (2009)
    9. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. (PubMed id 19174780)1 Weersma R.K....Vermeire S. (2009)
    10. Dynein is required for receptor sorting and the morphogenesis of early endosomes. (PubMed id 17173037)1 Driskell O.J....Woodman P.G. (2007)

    External Searches for DNAH12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DNAH12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 201625 HGNC: 2943 AceView: FLJ40427 Ensembl:ENSG00000174844 euGenes: HUgn201625
    ECgene: DNAH12 H-InvDB: DNAH12

    Other Databases showing DNAH12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DNAH12 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNAH12 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DNAH12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DNAH12 gene:
    Search GeneIP for patents involving DNAH12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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