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 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
Human Chr (Location)		11q21-q22.1; chr11:102980160-103350591 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human DYNC2H1

Alleles and phenotypes

All alleles(12) : Targeted(1) Gene trapped(6) Transgenic(1) Chemically induced(4)
 

Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.

 
Human Diseases Modeled Using Mouse Dync2h1 (4)    Alleles Annotated to Human Diseases(1)    Phenotype Images(26)

Gene Ontology (GO) classifications

All GO classifications: (43 annotations)

Process	asymmetric protein localization, cell projection assembly, ...
Component	apical part of cell, cell projection, ...
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 Type	Results
RNA in situ	41

cDNA source data(59)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(60) cDNA(60)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000033489 (Evidence)
Ensembl Gene Model	ENSMUSG00000047193 (Evidence)
Entrez Gene	110350 (Evidence)
UniGene	237596
DFCI	TC1578727, TC1605835, TC1638451, TC1654116, TC1693838
Consensus CDS Project	CCDS40528.1
International Mouse Knockout Project Status	Dync2h1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033489	VEGA Gene Model | MGI Sequence Detail	255944	C57BL/6J
transcript	OTTMUST00000084209	VEGA | MGI Sequence Detail	13103	Not Applicable
polypeptide	OTTMUSP00000045354	VEGA | MGI Sequence Detail	4313	Not Applicable

All sequences(58) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(622 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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
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:185270 Liem KF Jr, et al., The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J Cell Biol. 2012 Jun 11;197(6):789-800
All references(50)

Other accession IDs

MGD-MRK-36312, MGI:1924297, MGI:2143052, MGI:2444284, MGI:2445078, MGI:5311337