EPDR1 (ependymin related 1)

2003-06-01  

Identity

HGNC
EPDR1
LOCATION
7p14.1
LOCUSID
54749
ALIAS
EPDR,MERP-1,MERP1,UCC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54749
HGNC: 17572
Ensembl: ENSG00000086289

Variants:

dbSNP: 54749
ClinVar: 54749
TCGA: ENSG00000086289
COSMIC: EPDR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086289ENST00000199448Q9UM22
ENSG00000086289ENST00000423717Q9UM22
ENSG00000086289ENST00000425345Q9UM22
ENSG00000086289ENST00000476620D6RIH7

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

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
386838462024Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1.0
386838462024Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1.0
326828382021Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity.8
339025362021EPDR1 is related to stages and metastasize in bladder cancer and can be used as a prognostic biomarker.7
326828382021Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity.8
339025362021EPDR1 is related to stages and metastasize in bladder cancer and can be used as a prognostic biomarker.7
321118772020EPDR1 up-regulation in human colorectal cancer is related to staging and favours cell proliferation and invasiveness.12
329354792020EPDR1 correlates with immune cell infiltration in hepatocellular carcinoma and can be used as a prognostic biomarker.14
321118772020EPDR1 up-regulation in human colorectal cancer is related to staging and favours cell proliferation and invasiveness.12
329354792020EPDR1 correlates with immune cell infiltration in hepatocellular carcinoma and can be used as a prognostic biomarker.14
307291882019Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters.14
307291882019Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters.14
272458652016Dupuytren's disease susceptibility gene, EPDR1, is involved in myofibroblast contractility.15
278052512016In silico RNA-seq and experimental analyses reveal the differential expression and splicing of EPDR1 and ZNF518B genes in relation to KRAS mutations in colorectal cancer cells.12
272458652016Dupuytren's disease susceptibility gene, EPDR1, is involved in myofibroblast contractility.15

Citation

Dessen P

EPDR1 (ependymin related 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42760/css/css/hgnc