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Guidelines

MIRAGE

dynein cytoplasmic 2 heavy chain 1

Summary

Gene Symbol

DYNC2H1

Organism

Homo sapiens (human)

External Links

NCBI Gene

79659

PubChem

79659

Alliance of Genome Resources

HGNC:2962

JoGo

DYNC2H1

TogoVar

DYNC2H1

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Cell membrane
Ciliopathy
Cilium
Cilium biogenesis/degradation
Coiled coil
Cytoskeleton
Developmental protein
Disease variant
Dynein
Microtubule
Motor protein
Proteomics identification
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8NCM8	Cytoplasmic dynein 2 heavy chain Dynein cytoplasmic heavy chain 2 Dynein heavy chain 11 Dynein heavy chain isotype 1B

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
kidney development	IEA
Golgi organization	IDA	8666668
determination of left/right symmetry	IEA
dorsal/ventral pattern formation	IEA
protein processing	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing

protein maturation [inference]

protein processing

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing

protein maturation [inference]

protein processing

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing

protein maturation [inference]

protein processing

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing

protein maturation [inference]

protein processing

cellular process [inference]

microtubule-based process [inference]

microtubule-based movement [inference]

cilium movement [inference]

cilium movement involved in cell motility

transport along microtubule [inference]

intraciliary transport [inference]

intraciliary retrograde transport

cellular developmental process [inference]

cell differentiation [inference]

cell differentiation in spinal cord [inference]

spinal cord motor neuron differentiation

neuron differentiation [inference]

central nervous system neuron differentiation [inference]

spinal cord motor neuron differentiation

cellular localization [inference]

intracellular transport [inference]

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

intraciliary transport [inference]

intraciliary retrograde transport

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to cilium

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

Golgi organization

cilium organization [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

multicellular organismal process [inference]

pattern specification process [inference]

regionalization [inference]

dorsal/ventral pattern formation

specification of symmetry [inference]

determination of bilateral symmetry [inference]

determination of left/right symmetry

developmental process [inference]

anatomical structure morphogenesis [inference]

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

anatomical structure development [inference]

blood vessel development [inference]

coronary vasculature development

forebrain development

animal organ development [inference]

kidney development

cellular developmental process [inference]

cell differentiation [inference]

cell differentiation in spinal cord [inference]

spinal cord motor neuron differentiation

neuron differentiation [inference]

central nervous system neuron differentiation [inference]

spinal cord motor neuron differentiation

localization [inference]

protein-containing complex localization [inference]

intraciliary transport [inference]

intraciliary retrograde transport

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to cilium

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

intraciliary transport [inference]

intraciliary retrograde transport

microtubule-based transport [inference]

transport along microtubule [inference]

intraciliary transport [inference]

intraciliary retrograde transport

establishment of localization in cell [inference]

intracellular transport [inference]

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

intraciliary transport [inference]

intraciliary retrograde transport

cellular localization [inference]

intracellular transport [inference]

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

intraciliary transport [inference]

intraciliary retrograde transport

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to cilium

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway [inference]

positive regulation of smoothened signaling pathway

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway [inference]

positive regulation of smoothened signaling pathway

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway [inference]

positive regulation of smoothened signaling pathway

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
Golgi apparatus	IDA	8666668
cytoplasmic dynein complex	IDA	21723285 25830415
cytoplasmic dynein complex	IBA
microtubule	IDA	21525035
plasma membrane	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

microtubule associated complex [inference]

dynein complex [inference]

cytoplasmic dynein complex

catalytic complex [inference]

dynein complex [inference]

cytoplasmic dynein complex

cellular anatomical entity [inference]

axoneme

membrane [inference]

plasma membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

motile cilium [inference]

9+2 motile cilium

organelle [inference]

membrane-bounded organelle [inference]

motile cilium [inference]

9+2 motile cilium

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

microtubule

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
cytoskeletal motor activity	NAS	8666668
protein binding	IPI	29742051
ATP binding	IEA
minus-end-directed microtubule motor activity	IDA	21723285
ATP hydrolysis activity	IEA

GO Hierarchy

molecular function

cytoskeletal motor activity

microtubule motor activity [inference]

minus-end-directed microtubule motor activity

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ATP-dependent activity [inference]

microtubule motor activity [inference]

minus-end-directed microtubule motor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Dynein heavy chain

Functional Category

J: Translation, ribosomal structure and biogenesis
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
ATP binding
dynein intermediate chain binding
dynein light intermediate chain binding
microtubule-based movement
minus-end-directed microtubule motor activity
nucleotide binding

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InterPro
Cytoplasmic dynein 2 heavy chain 1, AAA+ ATPase domain
Dynein heavy chain AAA lid domain superfamily
Dynein heavy chain AAA lid domain
Dynein heavy chain region D6 P-loop domain
Dynein heavy chain, AAA module D4
Dynein heavy chain, AAA1 domain, small subdomain
Dynein heavy chain, ATP-binding dynein motor region
Dynein heavy chain, C-terminal domain, barrel region
Dynein heavy chain, C-terminal domain
Dynein heavy chain, coiled coil stalk

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050592	asphyxiating thoracic dystrophy	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3	Alliance of Genome Resources

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025