Gene

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

Description

Involved in cilium assembly and intraciliary transport. Localizes to non-motile cilium. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 3. Is expressed in central nervous system; pronephric duct; and retina. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Krock et al., 2009

Cross-Species Comparison

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
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

Domain Details Per Protein

Protein	Length	AAA+ ATPase domain	Cytoplasmic dynein 2 heavy chain 1, AAA+ ATPase domain	Dynein heavy chain	Dynein heavy chain, AAA1 domain, small subdomain	Dynein heavy chain AAA lid domain	Dynein heavy chain AAA lid domain superfamily	Dynein heavy chain, AAA module D4	Dynein heavy chain, ATP-binding dynein motor region	Dynein heavy chain, coiled coil stalk	Dynein heavy chain, C-terminal domain	Dynein heavy chain, C-terminal domain, barrel region	Dynein heavy chain, domain 2, N-terminal	Dynein heavy chain, hydrolytic ATP-binding dynein motor region	Dynein heavy chain, linker	Dynein heavy chain, linker, subdomain 3	Dynein heavy chain region D6 P-loop domain	Dynein heavy chain, tail	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A8M9PCL1 InterPro	4299

Transcripts

Genome Browsers: No data available

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations