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
151461862004Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.227
182995612008Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.167
194682982009Transcriptional dysregulation in NIPBL and cohesin mutant human cells.109
245507422014A cohesin-independent role for NIPBL at promoters provides insights in CdLS.52
235053222013High rate of mosaicism in individuals with Cornelia de Lange syndrome.39
162368122006Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.37
284726522017De Novo Coding Variants Are Strongly Associated with Tourette Disorder.30
176618132007Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.27
203586022010Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.26
203586022010Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.26

Citation

Dessen P

NIPBL (NIPBL cohesin loading factor)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40917/nipbl