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Dync2h1
Gene Detail
 Symbol
Name
ID
Dync2h1
dynein cytoplasmic 2 heavy chain 1
MGI:107736
Synonyms 4432416O06Rik, b2b414Clo, D030010H02Rik, D330044F14Rik, DHC1b, DHC2, Dnchc2
Feature Type protein coding gene
Genetic Map
Chromosome 9
2.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr9:6928503-7184446 bp, - strand
From VEGA annotation of GRCm38

  255944 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14468  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: dynein heavy chain, cytosolic
Gene Tree: Dync2h1

Human
homologs
Human Homolog DYNC2H1, dynein, cytoplasmic 2, heavy chain 1
NCBI Gene ID 79659
neXtProt AC  NX_Q8NCM8
Human Synonyms  ATD3, DHC1b, DHC2, DNCH2, DYH1B, hdhc11, SRPS2B, SRTD3
Human Chr (Location)  11q21-q22.1; chr11:103109431-103479863 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human DYNC2H1
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(4) Gene trapped(6) Targeted(1) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, micrognathia, and cardiac, renal, airway and eye defects may be observed.
 
Human Diseases Modeled Using Mouse Dync2h1 (3)    Alleles Annotated to Human Diseases(1)    Phenotype Images(26)
Interactions
Dync2h1 interacts with 317 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (44 annotations)
Process asymmetric protein localization, cell projection organization, ...
Component apical part of cell, axoneme, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (41)    Tissues (6)    Images (21)
Theiler Stages: 23
Assay TypeResults
RNA in situ 41
cDNA source data(58)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(59) cDNA(59)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000033489 (Evidence)
Ensembl Gene ModelENSMUSG00000047193 (Evidence)
Entrez Gene110350 (Evidence)
UniGene237596
DFCITC1578727, TC1605835, TC1638451, TC1654116, TC1693838
Consensus CDS ProjectCCDS40528.1
International Mouse Knockout Project StatusDync2h1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033489 VEGA Gene Model | MGI Sequence Detail 255944 C57BL/6J ±  kb
transcript OTTMUST00000084209 VEGA | MGI Sequence Detail 13103 Not Applicable 
polypeptide OTTMUSP00000045354 VEGA | MGI Sequence Detail 4313 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(6) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(717 from dbSNP Build 137)    SNPs within 2kb including multiple locations(721)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR011704 ATPase, dynein-related, AAA domain
InterPro IPR026815 Cytoplasmic dynein 2 heavy chain 1
InterPro IPR026983 Dynein heavy chain
InterPro IPR024743 Dynein heavy chain, coiled coil stalk
InterPro IPR004273 Dynein heavy chain domain
InterPro IPR013594 Dynein heavy chain, domain-1
InterPro IPR013602 Dynein heavy chain, domain-2
InterPro IPR024317 Dynein heavy chain, P-loop containing D4 domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000006775 cytoplasmic dynein 2 heavy chain 1
References (Earliest) J:34934 Vaughan KT, et al., Multiple mouse chromosomal loci for dynein-based motility. Genomics. 1996 Aug 15;36(1):29-38
(Latest) J:196508 Bay SN, et al., What are those cilia doing in the neural tube?. Cilia. 2012;1(1):19
All references(51)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-36312, MGI:1924297, MGI:2143052, MGI:2444284, MGI:2445078, MGI:5311337

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory