Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about NIPBL: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
| Gene Symbol | NIPBL |
| Full Name | Nipped-B Like (Cohesin Loader) |
| Aliases | Cohesin Loader |
| Function | NIPBL (Nipped-B Like) is the primary cohesin loading factor, essential for the deposition of the cohesin complex onto chromatin |
| Pathways | NOTCH, WNT, wnt |
| Ensembl ID | ENSG00000104249 |
| GeneCards | NIPBL |
| Human Protein Atlas | NIPBL |
| Enhancer-promoter contacts | Facilitating long-range chromatin loops that enable distal regulatory elements to activate target genes |
| TAD boundary formation | Establishing topologically associating domains that insulate gene regulatory neighborhoods |
| Transcriptional activation | Directly interacting with transcriptional machinery[@kagey2010] |
| Hox genes | Regulating body patterning and brain regionalization |
| Signaling pathway components | NOTCH, WNT, SHH targets[@dorsett2012] |
| Craniofacial features | Synophrys (unibrow), long eyelashes, short nose, thin downturned lips |
| Growth retardation | Prenatal and postnatal growth deficiency |
| Associated Diseases | Als |
| KG Connections | 7 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
NIPBL(["NIPBL"])
Als["Als"]
HDAC8(["HDAC8"])
SMC3(["SMC3"])
BRD4(["BRD4"])
RAD21(["RAD21"])
SMC1A(["SMC1A"])
ANKRD11(["ANKRD11"])
neurodegeneration["neurodegeneration"]
NIPBL -->|"associated with"| Als
NIPBL -->|"associated with"| HDAC8
NIPBL -->|"associated with"| SMC3
NIPBL -->|"associated with"| BRD4
NIPBL -->|"associated with"| RAD21
SMC1A -->|"associated with"| NIPBL
ANKRD11 -->|"associated with"| NIPBL
NIPBL -->|"implicated in"| neurodegeneration
style NIPBL fill:#1a237e,stroke:#4fc3f7,stroke-width:3px,color:#fffHypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||