Identity
HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
CDLS,CDLS1,IDN3,IDN3-B,Scc2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25836
MIM: 608667
HGNC: 28862
Ensembl: ENSG00000164190
Variants:
dbSNP: 25836
ClinVar: 25836
TCGA: ENSG00000164190
COSMIC: NIPBL
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164190 | ENST00000282516 | Q6KC79 |
| ENSG00000164190 | ENST00000448238 | Q6KC79 |
| ENSG00000164190 | ENST00000513819 | H0Y8M3 |
| ENSG00000164190 | ENST00000652901 | A0A590UJS4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38378967 | 2024 | NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer. | 0 |
| 38378967 | 2024 | NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer. | 0 |
| 36898992 | 2023 | Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2. | 5 |
| 36898992 | 2023 | Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2. | 5 |
| 35353576 | 2022 | The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation. | 11 |
| 35446447 | 2022 | uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. | 6 |
| 35456389 | 2022 | Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment. | 7 |
| 35476527 | 2022 | Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. | 7 |
| 35627125 | 2022 | A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome. | 1 |
| 35842780 | 2022 | Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. | 1 |
| 35353576 | 2022 | The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation. | 11 |
| 35446447 | 2022 | uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. | 6 |
| 35456389 | 2022 | Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment. | 7 |
| 35476527 | 2022 | Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. | 7 |
| 35627125 | 2022 | A 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/nipbl
