DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2)

2014-11-01  

Identity

HGNC
DYNC1I2
LOCATION
2q31.1
LOCUSID
1781
ALIAS
DIC74,DNCI2,IC2,NEDMIBA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
344001732021Dynein intermediate chain 2c (DNCI2c) complex is essential for exiting Mad2-dependent spindle assembly checkpoint.1
344001732021Dynein intermediate chain 2c (DNCI2c) complex is essential for exiting Mad2-dependent spindle assembly checkpoint.1
310798992019Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.15
310798992019Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.15
250152912014Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking.18
250152912014Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking.18
195401202009Par3 and dynein associate to regulate local microtubule dynamics and centrosome orientation during migration.100
195401202009Par3 and dynein associate to regulate local microtubule dynamics and centrosome orientation during migration.100

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)