Entity Detail — Knowledge Graph Node
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.
FAM134B is an ER-phagy receptor associated with HSAN2 and Parkinson's disease
| Gene Symbol | FAM134B |
| Full Name | Family With Sequence Similarity 134 Member B |
| Chromosome | 5p15.1 |
| Protein Type | Receptor |
| Function | is a critical ER-phagy receptor protein that plays an essential role in endoplasmic reticulum quality control and turnover. |
| Primary Expression | Neurons, peripheral sensory neurons |
| Amino Acids | 476 aa |
| Pathways | Autophagy, Innate Immunity |
| UniProt ID | Q9H6Y3 |
| NCBI Gene ID | 54494 |
| Ensembl ID | ENSG00000144136 |
| OMIM | 613374 |
| GeneCards | FAM134B |
| Human Protein Atlas | FAM134B |
| Alias | RETREG1, Retregulin |
| Associated Diseases | AD, ALI, ALS, Alzheimer, Neuropathy |
| Interactions | LC3, EPAS1, MIRO1, CTSD, RB1, EIF2AK3 |
| KG Connections | 487 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
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| Target | Relation | Type | Str |
|---|---|---|---|
| ER-phagy | promotes | process | 0.95 |
| ubiquitin-proteasome | participates_in | pathway | 0.70 |
| Dementia | interacts_with | disease | 0.65 |
| Cardiovascular | interacts_with | disease | 0.65 |
| Als | interacts_with | disease | 0.65 |
| Alzheimer | interacts_with | disease | 0.65 |
| Parkinson | interacts_with | disease | 0.65 |
| Ms | interacts_with | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | interacts_with | disease | 0.65 |
| Cardiovascular | therapeutic_target | disease | 0.65 |
| Frontotemporal Dementia | interacts_with | disease | 0.65 |
| Ftd | interacts_with | disease | 0.65 |
| Ms | activates | disease | 0.65 |
| Cancer | regulates | disease | 0.65 |
| Carcinoma | regulates | disease | 0.65 |
| ALS | interacts_with | disease | 0.65 |
| Hepatocellular Carcinoma | regulates | disease | 0.65 |
| Neuropathy | causes | disease | 0.65 |
| Neuropathy | associated_with | disease | 0.65 |
| Glioblastoma | activates | disease | 0.65 |
| Als | activates | disease | 0.65 |
| LC3 | interacts_with | gene | 0.60 |
| EPAS1 | interacts_with | gene | 0.60 |
| MIRO1 | interacts_with | gene | 0.60 |
| CTSD | interacts_with | gene | 0.60 |
| RB1 | interacts_with | gene | 0.60 |
| EIF2AK3 | interacts_with | gene | 0.60 |
| PRKN | interacts_with | gene | 0.60 |
| BCL2L11 | interacts_with | gene | 0.60 |
| MUL1 | interacts_with | gene | 0.60 |
| BNIP3 | interacts_with | gene | 0.60 |
| DISC1 | interacts_with | gene | 0.60 |
| EIF2S1 | interacts_with | gene | 0.60 |
| RIPK3 | interacts_with | gene | 0.60 |
| DRP1 | interacts_with | gene | 0.60 |
| CHOP | interacts_with | gene | 0.60 |
| BECN1 | interacts_with | gene | 0.60 |
| PTEN | interacts_with | gene | 0.60 |
| DDIT3 | interacts_with | gene | 0.60 |
| NBR1 | interacts_with | gene | 0.60 |
| EMD | interacts_with | gene | 0.60 |
| MAPK8 | interacts_with | gene | 0.60 |
| RHOT1 | interacts_with | gene | 0.60 |
| BNIP3L | interacts_with | gene | 0.60 |
| NDP52 | interacts_with | gene | 0.60 |
| HIF1A | interacts_with | gene | 0.60 |
| MAP1LC3B | interacts_with | gene | 0.60 |
| GBA | interacts_with | gene | 0.60 |
| FUNDC1 | interacts_with | gene | 0.60 |
| AMBRA1 | interacts_with | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| TFEB | upregulates | protein | 0.95 |
| CAT | interacts_with | gene | 0.60 |
| OPTN | interacts_with | gene | 0.60 |
| DNM1L | interacts_with | gene | 0.60 |
| CANX | interacts_with | gene | 0.60 |
| LGALS3 | interacts_with | gene | 0.60 |
| CALCOCO2 | interacts_with | gene | 0.60 |
| G3BP1 | interacts_with | gene | 0.60 |
| PEX3 | interacts_with | gene | 0.60 |
| SQSTM1 | interacts_with | gene | 0.60 |
| BCL2 | interacts_with | gene | 0.60 |
| LMNA | interacts_with | gene | 0.60 |
| STING1 | interacts_with | gene | 0.60 |
| TAX1BP1 | interacts_with | gene | 0.60 |
| ATM | interacts_with | gene | 0.60 |
| SNCAIP | interacts_with | gene | 0.60 |
| RB1CC1 | interacts_with | gene | 0.60 |
| MFN1 | interacts_with | gene | 0.60 |
| ERN1 | interacts_with | gene | 0.60 |
| PARKIN | interacts_with | gene | 0.60 |
| FMR1 | interacts_with | gene | 0.60 |
| SNCA | interacts_with | gene | 0.60 |
| DDIT3 | interacts_with | gene | 0.60 |
| ABCD3 | interacts_with | gene | 0.60 |
| MAP1LC3B | interacts_with | gene | 0.60 |
| AMBRA1 | interacts_with | gene | 0.60 |
| CTSD | interacts_with | gene | 0.60 |
| MUL1 | interacts_with | gene | 0.60 |
| PRKN | interacts_with | gene | 0.60 |
| BNIP3L | interacts_with | gene | 0.60 |
| HIF1A | interacts_with | gene | 0.60 |
| GBA | interacts_with | gene | 0.60 |
| NDP52 | interacts_with | gene | 0.60 |
| RHOT1 | interacts_with | gene | 0.60 |
| BNIP3 | interacts_with | gene | 0.60 |
| DRP1 | interacts_with | gene | 0.60 |
| SESN2 | interacts_with | gene | 0.60 |
| RB1 | interacts_with | gene | 0.60 |
| BCL2L13 | interacts_with | gene | 0.60 |
| P62 | interacts_with | gene | 0.60 |
| PINK1 | interacts_with | gene | 0.60 |
| BECN1 | interacts_with | gene | 0.60 |
| RIPK3 | interacts_with | gene | 0.60 |
| EPAS1 | interacts_with | gene | 0.60 |
| FIP200 | interacts_with | gene | 0.60 |
| PTEN | interacts_with | gene | 0.60 |
| MAPK8 | interacts_with | gene | 0.60 |
| BCL2L11 | interacts_with | gene | 0.60 |
| EIF2AK3 | interacts_with | gene | 0.60 |
| NLRP3 | interacts_with | gene | 0.60 |
Hypotheses 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 | ||||