POPDC3 (popeye domain containing 3)

2010-10-01  

Identity

HGNC
POPDC3
LOCATION
6q21
LOCUSID
64208
ALIAS
LGMDR26,POP3,bA355M14.1

Other Information

Locus ID:

NCBI: 64208
MIM: 605824
HGNC: 17649
Ensembl: ENSG00000132429

Variants:

dbSNP: 64208
ClinVar: 64208
TCGA: ENSG00000132429
COSMIC: POPDC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132429ENST00000254765Q9HBV1
ENSG00000132429ENST00000429112Q5T554

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

References

Pubmed IDYearTitleCitations
368433572023Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.0
371049412023A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.0
368433572023Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.0
371049412023A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.0
350757222022Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.2
350757222022Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.2
340697152021The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation.5
340697152021The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation.5
316100342019POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.14
316100342019POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.14
289391042017New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.32
289391042017New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.32
226544362012Reduced Popdc3 expression correlates with high risk and poor survival in patients with gastric cancer.9
226544362012Reduced Popdc3 expression correlates with high risk and poor survival in patients with gastric cancer.9
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28

Citation

Dessen P

POPDC3 (popeye domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51716