DYNC2H1
Sign in to saveAlso known as ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11
Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.
In the Vinony graph
Vinony's link graph records 274 inbound references to DYNC2H1, and connects out to hair keratin, PubMed and human chromosome 11.
It is catalogued under the topic Genes on human chromosome 11.
Vinony links it to 6 Wikipedia language editions.
Gene data
DYNC2H1- Name
- dynein cytoplasmic 2 heavy chain 1
- Type
- protein-coding
- Position
- 103,109,351–103,479,863 (+)
- Aliases
- ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11
- Ensembl
- ENSG00000187240
- RefSeq RNA
- NM_001080463.2, NM_001377.3, NM_024606.2, XM_006718903.3, XM_017018291.2
- RefSeq protein
- NP_001073932.1, NP_001368.2, XP_006718966.1, XP_016873780.1, XP_016873781.1
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
dynein cytoplasmic 2 heavy chain 1
- Symbol
- DYNC2H1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:103,109,351-103,479,863
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 14468
- genetic association
- tuberculosis
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/79659
- genomic end
- 103350591
- genomic start
- 103109410
- chromosome
- human chromosome 11
- cytogenetic location
- 11q22.3
- expressed in
- testicle
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- See also
- References
- Further reading
Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.
It is associated with short rib–polydactyly syndrome type 3.
Excerpted from Wikipedia’s “DYNC2H1” article, available under the CC BY-SA 4.0 licence.
Available in 6 languages
via Wikidata sitelinks · CC0