PNLDC1 (PARN like ribonuclease domain containing exonuclease 1)

2017-10-01  

Identity

HGNC
PNLDC1
LOCATION
6q25.3
LOCUSID
154197
ALIAS
HsPNLDC1,Trimmer

Other Information

Locus ID:

NCBI: 154197
HGNC: 21185
Ensembl: ENSG00000146453

Variants:

dbSNP: 154197
ClinVar: 154197
TCGA: ENSG00000146453
COSMIC: PNLDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146453ENST00000275275V9GYA0
ENSG00000146453ENST00000392167Q8NA58
ENSG00000146453ENST00000610041V9GYA0
ENSG00000146453ENST00000610048V9GYA0
ENSG00000146453ENST00000610273Q8NA58

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

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
372823842023The role of homozygous LOF variant of the PNLDC1 gene in oligo-astheno-teratozoospermia (OAT) and male infertility.0
372823842023The role of homozygous LOF variant of the PNLDC1 gene in oligo-astheno-teratozoospermia (OAT) and male infertility.0
353612672022A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.9
353612672022A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.9
272606552017A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.5
272606552017A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.5
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.0
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.0

Citation

Dessen P

PNLDC1 (PARN like ribonuclease domain containing exonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57192