DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1)

2014-11-01  

Identity

HGNC
DYNC2LI1
LOCATION
2p21
LOCUSID
51626
ALIAS
CGI-60,D2LIC,LIC3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51626
MIM: 617083
HGNC: 24595
Ensembl: ENSG00000138036

Variants:

dbSNP: 51626
ClinVar: 51626
TCGA: ENSG00000138036
COSMIC: DYNC2LI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138036ENST00000260605Q8TCX1
ENSG00000138036ENST00000378587H7BYC8
ENSG00000138036ENST00000398823Q8TCX1
ENSG00000138036ENST00000406852Q8TCX1
ENSG00000138036ENST00000462426E5RK97
ENSG00000138036ENST00000479242E5RJK4
ENSG00000138036ENST00000496980E5RFM8
ENSG00000138036ENST00000605786Q8TCX1

Expression (GTEx)

0
5
10
15
20
25
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
349970292022Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.3
349970292022Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.3
330302522020Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.2
330302522020Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.2
288571382018Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.12
288571382018Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.12
260778812015Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.47
261304592015DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.16
260778812015Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.47
261304592015DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.16

Citation

Dessen P

DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62691/favicon/hgnc