DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2)

2014-11-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
DIC74,DNCI2,IC2,NEDMIBA
FUSION GENES

Other Information

Locus ID:

NCBI: 1781
MIM: 603331
HGNC: 2964
Ensembl: ENSG00000077380

Variants:

dbSNP: 1781
ClinVar: 1781
TCGA: ENSG00000077380
COSMIC: DYNC1I2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000077380ENST00000340296Q13409
ENSG00000077380ENST00000397119Q13409
ENSG00000077380ENST00000397119A0A140VKE9
ENSG00000077380ENST00000409197Q13409
ENSG00000077380ENST00000409317Q13409
ENSG00000077380ENST00000409453Q13409
ENSG00000077380ENST00000409773Q13409
ENSG00000077380ENST00000409773A0A140VKE9
ENSG00000077380ENST00000410079Q13409
ENSG00000077380ENST00000411953E7ERH4
ENSG00000077380ENST00000412370E7EUM4
ENSG00000077380ENST00000422646E7ETL8
ENSG00000077380ENST00000423910E7ET01
ENSG00000077380ENST00000425485E7EQU2
ENSG00000077380ENST00000430778E9PGG1
ENSG00000077380ENST00000435234E7EQL5
ENSG00000077380ENST00000438879E7EMU4
ENSG00000077380ENST00000443458E7ERR6
ENSG00000077380ENST00000445378E7EU01
ENSG00000077380ENST00000452242E7EV09
ENSG00000077380ENST00000456808E7ESD3
ENSG00000077380ENST00000508530Q13409

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
AURKA Activation by TPX2REACTOMER-HSA-8854518
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195401202009Par3 and dynein associate to regulate local microtubule dynamics and centrosome orientation during migration.82
250152912014Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking.13
310798992019Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.3

Citation

Dessen P

DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62688/dync1i2-(dynein-cytoplasmic-1-intermediate-chain-2)