DCBLD1 (discoidin, CUB and LCCL domain containing 1)

2017-10-01  

Identity

HGNC
DCBLD1
LOCATION
6q22.1
LOCUSID
285761
ALIAS
dJ94G16.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285761
HGNC: 21479
Ensembl: ENSG00000164465

Variants:

dbSNP: 285761
ClinVar: 285761
TCGA: ENSG00000164465
COSMIC: DCBLD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164465ENST00000296955Q8N8Z6
ENSG00000164465ENST00000338728Q8N8Z6
ENSG00000164465ENST00000424717H0Y4G4

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446661Carcinoma, Small CellDiseaseClinicalAnnotationassociatedPD23478653
PA449014cisplatinChemicalClinicalAnnotationassociatedPD23478653
PA450085irinotecanChemicalClinicalAnnotationassociatedPD23478653

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
280253292017Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations.13
290259732017Dynamic multi-site phosphorylation by Fyn and Abl drives the interaction between CRKL and the novel scaffolding receptors DCBLD1 and DCBLD2.4
309028982019The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease.4
302122422018Positional integration of lung adenocarcinoma susceptibility loci with primary human alveolar epithelial cell epigenomes.0

Citation

Dessen P

DCBLD1 (discoidin, CUB and LCCL domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57202/dcbld1-(discoidin-cub-and-lccl-domain-containing-1)