dync2h1

ID

ZDB-GENE-100217-1

Name

dynein cytoplasmic 2 heavy chain 1

Symbol

dync2h1 Nomenclature History

Previous Names

wu:fj04e09
zmp:0000000965

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and dynein intermediate chain binding activity. Acts upstream of or within cilium assembly and intraciliary transport. Located in non-motile cilium. Is expressed in central nervous system; pronephric duct; and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1).

Genome Resources

Alliance (1)
Gene:100332402 (1)

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Krock et al., 2009

Cross-Species Comparison

Alliance

High Throughput Data

Expression Atlas

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dync2h1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
asphyxiating thoracic dystrophy 3	Alliance	Short-rib thoracic dysplasia 3 with or without polydactyly	613091

Associated With dync2h1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR004273	Dynein heavy chain region D6 P-loop domain
Domain	IPR013594	Dynein heavy chain, tail
Domain	IPR013602	Dynein heavy chain, linker
Domain	IPR024317	Dynein heavy chain, AAA module D4
Domain	IPR024743	Dynein heavy chain, coiled coil stalk
Domain	IPR035699	Dynein heavy chain, hydrolytic ATP-binding dynein motor region
Domain	IPR035706	Dynein heavy chain, ATP-binding dynein motor region
Domain	IPR041228	Dynein heavy chain, C-terminal domain
Domain	IPR041658	Dynein heavy chain AAA lid domain
Domain	IPR049400	Cytoplasmic dynein 2 heavy chain 1, AAA+ ATPase domain
Domain	IPR054354	Dynein 2 heavy chain 1, cytoplasmic, ATPase lid domain
Family	IPR026983	Dynein heavy chain
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR042219	Dynein heavy chain AAA lid domain superfamily
Homologous_superfamily	IPR042222	Dynein heavy chain, domain 2, N-terminal
Homologous_superfamily	IPR042228	Dynein heavy chain, linker, subdomain 3
Homologous_superfamily	IPR043157	Dynein heavy chain, AAA1 domain, small subdomain
Homologous_superfamily	IPR043160	Dynein heavy chain, C-terminal domain, barrel region