gene

FAM134B

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about FAM134B: 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.

487Connections
0Hypotheses
0Analyses
50Outgoing
50Incoming

Summary

FAM134B is an ER-phagy receptor associated with HSAN2 and Parkinson's disease

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🧬 Gene Info
Gene SymbolFAM134B
Full NameFamily With Sequence Similarity 134 Member B
Chromosome5p15.1
Protein TypeReceptor
Functionis a critical ER-phagy receptor protein that plays an essential role in endoplasmic reticulum quality control and turnover.
Primary ExpressionNeurons, peripheral sensory neurons
Amino Acids476 aa
PathwaysAutophagy, Innate Immunity
UniProt IDQ9H6Y3
NCBI Gene ID54494
Ensembl IDENSG00000144136
OMIM613374
GeneCardsFAM134B
Human Protein AtlasFAM134B
AliasRETREG1, Retregulin
Associated DiseasesAD, ALI, ALS, Alzheimer, Neuropathy
InteractionsLC3, EPAS1, MIRO1, CTSD, RB1, EIF2AK3
KG Connections487 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: FAM134B — AlphaFold Q9H6Y3 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (17)

Knowledge base pages for this entity

Canonical Page

FAM134B — Family With Sequence Similarity 134 Member B

gene · 1033 words

Autophagy Mechanisms

mechanism · 4866 words

er-stress-neurodegeneration

mechanism · 3696 words

autophagy-lysosomal-alzheimers

mechanism · 3555 words

Autophagy Failure Comparison -- AD/PD/ALS/FTD/HD

mechanism · 3424 words

Endoplasmic Reticulum Stress Comparison Across Neurodegenerative Diseases

mechanism · 3363 words

Pathway Diagram

flowchart TD
    FAM134B["FAM134B<br/>ER-phagy Receptor"]
    
    %% ER Stress and Autophagy Pathway
    ER_Stress["ER Stress<br/>Response"]
    EIF2AK3["EIF2AK3<br/>(PERK)"]
    EIF2S1["EIF2S1<br/>(eIF2alpha)"]
    CHOP["CHOP<br/>Pro-apoptotic Factor"]
    
    %% Autophagy Components
    LC3["LC3<br/>Autophagosome Marker"]
    ER_Phagy["ER-phagy<br/>Process"]
    
    %% Mitochondrial Quality Control
    PRKN["PRKN<br/>(Parkin)"]
    MUL1["MUL1<br/>Mitochondrial Ligase"]
    MIRO1["MIRO1<br/>Mitochondrial Transport"]
    DRP1["DRP1<br/>Mitochondrial Fission"]
    
    %% Cell Death Pathways
    BCL2L11["BCL2L11<br/>(BIM)"]
    BNIP3["BNIP3<br/>Mitochondrial Death"]
    RIPK3["RIPK3<br/>Necroptosis"]
    
    %% Neurodegeneration Outcomes
    ALS["Amyotrophic Lateral<br/>Sclerosis"]
    Alzheimer["Alzheimer's<br/>Disease"]
    Parkinson["Parkinson's<br/>Disease"]
    FTD["Frontotemporal<br/>Dementia"]
    
    %% Key Interactions
    FAM134B --|"regulates"|--> ER_Phagy
    FAM134B --|"binds"|--> LC3
    ER_Stress --|"activates"|--> EIF2AK3
    EIF2AK3 --|"phosphorylates"|--> EIF2S1
    EIF2S1 --|"induces"|--> CHOP
    
    FAM134B --|"interacts"|--> PRKN
    FAM134B --|"interacts"|--> MUL1
    PRKN --|"ubiquitinates"|--> MIRO1
    MUL1 --|"regulates"|--> DRP1
    
    CHOP --|"activates"|--> BCL2L11
    BCL2L11 --|"promotes"|--> BNIP3
    RIPK3 --|"triggers"|--> Cell_Death["Cell Death<br/>Pathways"]
    
    ER_Phagy --|"dysfunction"|--> ALS
    ER_Phagy --|"dysfunction"|--> Alzheimer
    PRKN --|"mutations"|--> Parkinson
    Cell_Death --|"leads to"|--> FTD
    
    %% Styling
    style FAM134B fill:#006494
    style ER_Phagy fill:#1b5e20
    style LC3 fill:#1b5e20
    style PRKN fill:#4a1a6b
    style MUL1 fill:#4a1a6b
    style CHOP fill:#ef5350
    style BCL2L11 fill:#ef5350
    style BNIP3 fill:#ef5350
    style RIPK3 fill:#ef5350
    style ALS fill:#5d4400
    style Alzheimer fill:#5d4400
    style Parkinson fill:#5d4400
    style FTD fill:#5d4400

Outgoing (253)

TargetRelationTypeStr
ER-phagypromotesprocess0.95
ubiquitin-proteasomeparticipates_inpathway0.70
Dementiainteracts_withdisease0.65
Cardiovascularinteracts_withdisease0.65
Alsinteracts_withdisease0.65

Incoming (234)

SourceRelationTypeStr
TFEBupregulatesprotein0.95
CATinteracts_withgene0.60
OPTNinteracts_withgene0.60
DNM1Linteracts_withgene0.60
CANXinteracts_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found