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.
Gene data
DYNC2H1- Name
- dynein cytoplasmic 2 heavy chain 1
- Type
- protein-coding
- Position
- 103,109,410–103,479,863 (+)
- 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
Show 5 more facts
- HomoloGene ID
- 14468
- exact match
- identifiers.org/ncbigene/79659
- genomic end
- 103350591
- genomic start
- 103109410
- cytogenetic location
- 11q22.3
via Wikidata · CC0
~1 min read
Article
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.
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via Wikidata sitelinks · CC0