NIPBL Chromosome 5
NIPBL cohesin loading factor
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What This Gene Does
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000164190
Associated Conditions (33)
Cornelia de Lange syndrome 1
Inborn genetic diseases
NIPBL-related disorder
See cases
Sarcoma
Melanoma
Developmental and epileptic encephalopathy
54
Intellectual disability
Orofacial cleft 1
Global developmental delay
Pancreatic adenocarcinoma
Cervical cancer
9 conditions
Neurodevelopmental disorder
Vesicoureteral reflux
Mild intellectual disability
Horseshoe kidney
Seizure
Plagiocephaly
+13 more conditions
Key Variants
RS10554564
Conflicting classifications of pathogenicity
Health Risk
RS1064796744
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
Health Risk
RS1235334324
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Inborn genetic diseases, Cornelia de Lange syndrome 1
Health Risk
RS1256938703
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
Health Risk
RS138210440
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cornelia de Lange syndrome 1, NIPBL-related disorder
Health Risk
RS139177541
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
Health Risk
RS139819353
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
Health Risk
RS1400161680
Conflicting classifications of pathogenicity
See cases, Cornelia de Lange syndrome 1, See cases
Health Risk
RS140021654
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Inborn genetic diseases, Cornelia de Lange syndrome 1
Health Risk
RS1424732133
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
Health Risk
RS143252734
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
Health Risk
RS143420538
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 1, Inborn genetic diseases, Cornelia de Lange syndrome 1
Health Risk
All Variants (621)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886043629 | Health Risk | Pathogenic | — |
| RS886044351 | Health Risk | Pathogenic | — |
| RS1157335847 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS121918264 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1251456909 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1554019712 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Neurodevelopmental delay, Cornelia de Lange syndrome 1 |
| RS1561222738 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1579570362 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, NIPBL-related disorder, Cornelia de Lange syndrome 1 |
| RS1580394197 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1753199066 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2149704635 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS2478366575 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS587783979 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS587783985 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS587784012 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS587784020 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS587784024 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, NIPBL-related disorder, Cornelia de Lange syndrome 1 |
| RS587784030 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS587784036 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Inborn genetic diseases, NIPBL-related disorder |
| RS727503772 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS80358378 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |