DYNC2I2 (dynein 2 intermediate chain 2)

2018-07-01  

Identity

HGNC
DYNC2I2
LOCATION
9q34.11
LOCUSID
89891
ALIAS
CFAP133,DIC5,FAP133,SRTD11,WDR34,bA216B9.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 89891
MIM: 613363
HGNC: 28296
Ensembl: ENSG00000119333

Variants:

dbSNP: 89891
ClinVar: 89891
TCGA: ENSG00000119333
COSMIC: DYNC2I2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119333ENST00000372715Q96EX3
ENSG00000119333ENST00000419989A2A3F8
ENSG00000119333ENST00000451652A2A3F9

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

References

Pubmed IDYearTitleCitations
241834512013Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.41
241834492013WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.33
195216622009WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.9
303205472018Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function.4
292787052018Evaluation of tryptophan-aspartic acid repeat-containing protein 34 as a novel tumor-suppressor molecule in human oral cancer.3
306499972019Interactions of the dynein-2 intermediate chain WDR34 with the light chains are required for ciliary retrograde protein trafficking.3
308776102019WDR34 Activates Wnt/Beta-Catenin Signaling in Hepatocellular Carcinoma.1

Citation

Dessen P

DYNC2I2 (dynein 2 intermediate chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57389/dync2i2-(dynein-2-intermediate-chain-2)