NIPBL (NIPBL cohesin loading factor)

2003-12-01  

Identity

HGNC
NIPBL
LOCATION
5p13.2
LOCUSID
25836
ALIAS
CDLS,CDLS1,IDN3,IDN3-B,Scc2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25836
MIM: 608667
HGNC: 28862
Ensembl: ENSG00000164190

Variants:

dbSNP: 25836
ClinVar: 25836
TCGA: ENSG00000164190
COSMIC: NIPBL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164190ENST00000282516Q6KC79
ENSG00000164190ENST00000448238Q6KC79
ENSG00000164190ENST00000513819H0Y8M3
ENSG00000164190ENST00000652901A0A590UJS4

Expression (GTEx)

0
5
10
15
20
25
30
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
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic Telophase/CytokinesisREACTOMER-HSA-68884
Cohesin Loading onto ChromatinREACTOMER-HSA-2470946

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
383789672024NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer.0
383789672024NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer.0
368989922023Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2.5
368989922023Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2.5
353535762022The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation.11
354464472022uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.6
354563892022Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment.7
354765272022Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.7
356271252022A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.1
358427802022Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.1
353535762022The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation.11
354464472022uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.6
354563892022Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment.7
354765272022Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.7
356271252022A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.1

Citation

Dessen P

NIPBL (NIPBL cohesin loading factor)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40917/case-report-explorer/gene-explorer/js/template.js