gene

SMARCB1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about SMARCB1: 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.

104Connections

0Hypotheses

0Analyses

50Outgoing

36Incoming

0Experiments

0Debates

Summary

Page for SMARCB1 — SWI/SNF Related Matrix Associated Actin Dependent Regulator of Chromatin Subfamily B Member 1

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🧬 Gene Info

Gene Symbol	SMARCB1
Full Name	SWI/SNF Related Matrix Associated Actin Dependent Regulator of Chromatin Subfamily B Member 1
Chromosome	22q11.23
Function	encodes a core subunit of the SWI/SNF (BAF/PBAF) chromatin remodeling complex, which uses ATP hydrolysis to reposition nucleosomes and regulate gene expression.
Primary Expression	neurons, oligodendrocytes, and Schwann cells, where it maintains lin
Molecular Weight	44 kDa
Amino Acids	385 aa
UniProt ID	Q12824
NCBI Gene ID	6598
Ensembl ID	ENSG00000099956
OMIM	601607
GeneCards	SMARCB1
Human Protein Atlas	SMARCB1
Promoter-proximal nucleosome regulation	SMARCB1 positions the BAF complex at the +1 nucleosome of active gene promoters, facilitating RNA Polymerase II pause release and productive transcription elongation
Associated Diseases	Als, Alzheimer, neurofibromatosis, schwannomatosis, Tumor
Interactions	AKT, ALZHEIMER, APOE, APP, CALB1, CCT4
KG Connections	104 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: SMARCB1 — AlphaFold Q12824 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

SMARCB1 — SWI/SNF Related Matrix Associated Actin Dependent Regulator of Chromatin Subfamily B Member 1

gene · 1352 words

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Pathway Diagram

graph TD
    SMARCB1["SMARCB1"]
    schwannomatosis{"schwannomatosis"}
    SMARCB1 -->|"associated with"| schwannomatosis
    neurofibromatosis{"neurofibromatosis"}
    SMARCB1 -->|"associated with"| neurofibromatosis
    Tumor{"Tumor"}
    SMARCB1 -->|"causes"| Tumor
    Als{"Als"}
    SMARCB1 -->|"inhibits"| Als
    Ms{"Ms"}
    SMARCB1 -->|"inhibits"| Ms
    SMARCB1 -->|"inhibits"| Tumor
    NF1["NF1"]
    SMARCB1 -->|"inhibits"| NF1
    Mapk(["Mapk"])
    SMARCB1 -->|"inhibits"| Mapk
    Akt(["Akt"])
    SMARCB1 -->|"inhibits"| Akt
    Mtor(["Mtor"])
    SMARCB1 -->|"inhibits"| Mtor
    Pi3K(["Pi3K"])
    SMARCB1 -->|"inhibits"| Pi3K
    neurodegeneration["neurodegeneration"]
    SMARCB1 -->|"implicated in"| neurodegeneration
    MTOR["MTOR"]
    MTOR -->|"inhibits"| SMARCB1
    ERK["ERK"]
    ERK -->|"inhibits"| SMARCB1
    PI3K["PI3K"]
    PI3K -->|"inhibits"| SMARCB1
    AKT["AKT"]
    AKT -->|"inhibits"| SMARCB1
    NF2["NF2"]
    NF2 -->|"inhibits"| SMARCB1
    LZTR1["LZTR1"]
    LZTR1 -->|"inhibits"| SMARCB1
    style SMARCB1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (68)

Target	Relation	Type	Str
Tumor	inhibits	disease	0.75
GENES	inhibits	gene	0.70
LZTR1	inhibits	gene	0.70
schwannomatosis	associated_with	disease	0.70
NF2	inhibits	gene	0.70
Tumor	causes	disease	0.70
neurofibromatosis	associated_with	disease	0.70
Als	associated_with	disease	0.65
Alzheimer	associated_with	disease	0.65
ALS	associated_with	disease	0.65
Als	inhibits	disease	0.65
Ms	inhibits	disease	0.65
Als	therapeutic_target	disease	0.65
Tumor	implicated_in	disease	0.65
RAS	inhibits	gene	0.60
Pi3K/Akt	inhibits	pathway	0.60
COPA	associated_with	gene	0.60
ALZHEIMER	associated_with	gene	0.60
Igf	associated_with	protein	0.60
Alzheimer's disease	interacts_with	disease	0.60
SYNCRIP	associated_with	gene	0.60
SYNE2	associated_with	gene	0.60
TMEM59	associated_with	gene	0.60
SUFU	inhibits	gene	0.60
APOE	associated_with	gene	0.60
SSBP1	associated_with	gene	0.60
IDS	associated_with	gene	0.60
PRDX3	associated_with	gene	0.60
SYNE2	interacts_with	gene	0.60
Mapk	inhibits	pathway	0.60
Akt	inhibits	pathway	0.60
Mtor	inhibits	pathway	0.60
Pi3K	inhibits	pathway	0.60
GENES	associated_with	gene	0.60
DNA	expressed_in	gene	0.60
LZTR1	causes	gene	0.60
GENES	causes	gene	0.60
NF2	implicated_in	gene	0.60
APP	associated_with	gene	0.60
GAIN	therapeutic_target	gene	0.60
NF2	causes	gene	0.60
PI3K	inhibits	gene	0.60
AKT	inhibits	gene	0.60
MTOR	inhibits	gene	0.60
ULK2	associated_with	gene	0.60
SFPQ	associated_with	gene	0.60
CCT4	associated_with	gene	0.60
CALB1	associated_with	gene	0.60
SORL1	associated_with	gene	0.60
IGF2R	associated_with	gene	0.60

Incoming (36)

Source	Relation	Type	Str
APP	interacts_with	gene	0.60
CALB1	interacts_with	gene	0.60
CCT4	interacts_with	gene	0.60
IDS	interacts_with	gene	0.60
IGF2R	interacts_with	gene	0.60
PRDX3	interacts_with	gene	0.60
RNF14	interacts_with	gene	0.60
SFPQ	interacts_with	gene	0.60
ERK	inhibits	gene	0.60
LZTR1	inhibits	gene	0.60
STXBP3	associated_with	gene	0.60
SORL1	associated_with	gene	0.60
CCT4	associated_with	gene	0.60
SFPQ	associated_with	gene	0.60
COPA	associated_with	gene	0.60
COPA	interacts_with	gene	0.60
APOE	associated_with	gene	0.60
IGF2R	associated_with	gene	0.60
PRDX3	associated_with	gene	0.60
MTOR	inhibits	gene	0.60
PI3K	inhibits	gene	0.60
AKT	inhibits	gene	0.60
NF2	inhibits	gene	0.60
SYNE2	associated_with	gene	0.60
ALZHEIMER	associated_with	gene	0.60
IDS	associated_with	gene	0.60
SYNCRIP	associated_with	gene	0.60
SSBP1	associated_with	gene	0.60
APP	associated_with	gene	0.60
TMEM59	associated_with	gene	0.60
RNF14	associated_with	gene	0.60
ULK2	associated_with	gene	0.60
LZTR1	associated_with	gene	0.60
AND	associated_with	gene	0.60
APOE	interacts_with	gene	0.50
SYNE2	interacts_with	gene	0.50

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning SMARCB1 in their description or question text

No additional research found