NIPBL (NIPBL cohesin loading factor)

2003-12-01  

Identity

HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
CDLS,CDLS1,IDN3,IDN3-B,Scc2
FUSION GENES

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

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

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/lib/bootstrap.min.js