STBD1
gene geneOn this page
Also known as FLJ41801GENX-3414
Summary
STBD1 (starch binding domain 1, HGNC:24854) is a protein-coding gene on chromosome 4q21.1, encoding Starch-binding domain-containing protein 1 (O95210). Acts as a cargo receptor for glycogen.
Enables enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm.
Source: NCBI Gene 8987 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 1 total
- MANE Select transcript:
NM_003943
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24854 |
| Approved symbol | STBD1 |
| Name | starch binding domain 1 |
| Location | 4q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ41801, GENX-3414 |
| Ensembl gene | ENSG00000118804 |
| Ensembl biotype | protein_coding |
| OMIM | 607406 |
| Entrez | 8987 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000237642
RefSeq mRNA: 1 — MANE Select: NM_003943
NM_003943
CCDS: CCDS3578
Canonical transcript exons
ENST00000237642 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001025285 | 76306733 | 76306989 |
| ENSE00002024062 | 76309144 | 76311130 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 91.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.2218 / max 594.9924, expressed in 1455 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 48331 | 6.3380 | 1349 |
| 48330 | 2.4178 | 726 |
| 48328 | 0.7298 | 230 |
| 48329 | 0.6659 | 201 |
| 48327 | 0.0703 | 32 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 91.93 | gold quality |
| muscle of leg | UBERON:0001383 | 91.63 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 91.53 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.18 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 88.79 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.56 | gold quality |
| liver | UBERON:0002107 | 86.10 | gold quality |
| muscle tissue | UBERON:0002385 | 84.42 | gold quality |
| heart left ventricle | UBERON:0002084 | 82.99 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.51 | gold quality |
| heart | UBERON:0000948 | 81.99 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.81 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 80.77 | gold quality |
| adipose tissue | UBERON:0001013 | 80.26 | gold quality |
| popliteal artery | UBERON:0002250 | 79.92 | gold quality |
| tibial artery | UBERON:0007610 | 79.91 | gold quality |
| apex of heart | UBERON:0002098 | 79.82 | gold quality |
| left coronary artery | UBERON:0001626 | 79.44 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.26 | gold quality |
| omental fat pad | UBERON:0010414 | 79.25 | gold quality |
| right coronary artery | UBERON:0001625 | 78.33 | gold quality |
| transverse colon | UBERON:0001157 | 77.95 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 77.55 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 77.23 | gold quality |
| lower esophagus | UBERON:0013473 | 77.16 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 76.89 | gold quality |
| thoracic aorta | UBERON:0001515 | 76.56 | gold quality |
| colon | UBERON:0001155 | 76.44 | gold quality |
| ascending aorta | UBERON:0001496 | 76.43 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 76.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.49 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
73 targeting STBD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
Literature-anchored findings (GeneRIF, showing 4)
- Atg8 interacting motif (AIM) in Stbd1 is necessary for GABARAPL1 binding. (PMID:21893048)
- results demonstrate that Stbd1 plays a dominant role in glycogen transport to lysosomes in liver and that the N-terminal transmembrane region and the C-terminal CBM20 domain are critical for this function. (PMID:27358407)
- Model-based analysis uncovers mutations altering autophagy selectivity in human cancer. (PMID:34059679)
- Decoding the molecular mechanism of selective autophagy of glycogen mediated by autophagy receptor STBD1. (PMID:39236246)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stbd1 | ENSDARG00000098408 |
| mus_musculus | Stbd1 | ENSMUSG00000047963 |
| rattus_norvegicus | Stbd1 | ENSRNOG00000002218 |
Protein
Protein identifiers
Starch-binding domain-containing protein 1 — O95210 (reviewed: O95210)
Alternative names: Genethonin-1, Glycophagy cargo receptor STBD1
All UniProt accessions (1): O95210
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes.
Subunit / interactions. Interacts with the ATG8 family proteins GABARAP and GABARAPL1. Interacts with several glycogen-associated proteins, such as GYS2 (liver glycogen synthase), GDE (glycogen debranching enzyme), GBE1 (glycogen branching enzyme 1) and EPM2A (Laforin).
Subcellular location. Preautophagosomal structure membrane. Endoplasmic reticulum membrane. Cell membrane. Sarcolemma. T-tubule.
Tissue specificity. Expressed at high level in skeletal and cardiac muscles. Moderately expressed in liver and placenta. No expression is found in pancreas, kidney or lung. Present in skeletal muscle, heart and placenta (at protein level).
Post-translational modifications. Ubiquitinated, which leads to proteasomal degradation.
Domain organisation. The LIR motif (LC3-interacting region) is required for the interaction with the ATG8 family protein GABARAPL1. The C-terminal CBM20 domain is required for the interaction with glycogen and glycogen-associated proteins.
RefSeq proteins (1): NP_003934* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002044 | CBM20 | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR013784 | Carb-bd-like_fold | Homologous_superfamily |
| IPR034838 | CBM20_genethonin_1 | Domain |
Pfam: PF00686
UniProt features (24 total): modified residue 9, compositionally biased region 4, mutagenesis site 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, domain 1, short sequence motif 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8X8A | X-RAY DIFFRACTION | 1.53 |
| 8X8K | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95210-F1 | 58.44 | 0.28 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (9): 65, 117, 148, 175, 188, 194, 210, 211, 220
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 203 | abolishes interaction with gabarapl1. |
| 206 | abolishes interaction with gabarapl1. |
| 293 | abolishes gys2- and glycogen-binding, and leads to rapid degradation. |
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8980692 | RHOA GTPase cycle |
| R-HSA-9013404 | RAC2 GTPase cycle |
| R-HSA-9013405 | RHOD GTPase cycle |
| R-HSA-9013408 | RHOG GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 142 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_LYSOSOMAL_TRANSPORT, GOBP_VACUOLE_ORGANIZATION, GOCC_SECRETORY_GRANULE, PEREZ_TP63_TARGETS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MACROAUTOPHAGY, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_POLYSACCHARIDE_CATABOLIC_PROCESS, UEDA_PERIFERAL_CLOCK, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, TGCTGAY_UNKNOWN
GO Biological Process (7): glycogen catabolic process (GO:0005980), lysosomal transport (GO:0007041), glycophagy (GO:0061723), substrate localization to autophagosome (GO:0061753), glycogen metabolic process (GO:0005977), autophagy (GO:0006914), vesicle-mediated transport (GO:0016192)
GO Molecular Function (7): enzyme binding (GO:0019899), polysaccharide binding (GO:0030247), cargo receptor activity (GO:0038024), glycogen binding (GO:2001069), starch binding (GO:2001070), protein binding (GO:0005515), carbohydrate binding (GO:0030246)
GO Cellular Component (9): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), T-tubule (GO:0030315), phagophore assembly site membrane (GO:0034045), perinuclear region of cytoplasm (GO:0048471), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 5 |
| Innate Immune System | 1 |
| Immune System | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| polysaccharide binding | 2 |
| binding | 2 |
| cytoplasm | 2 |
| membrane | 2 |
| secretory granule membrane | 2 |
| tertiary granule | 2 |
| glycogen metabolic process | 1 |
| glucan catabolic process | 1 |
| vacuolar transport | 1 |
| glycogen catabolic process | 1 |
| macroautophagy | 1 |
| autophagosome assembly | 1 |
| establishment of localization in cell | 1 |
| energy reserve metabolic process | 1 |
| glucan metabolic process | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| transport | 1 |
| cellular process | 1 |
| protein binding | 1 |
| carbohydrate binding | 1 |
| molecular_function | 1 |
| vesicle-mediated transport | 1 |
| molecular adaptor activity | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cell periphery | 1 |
| sarcolemma | 1 |
| phagophore assembly site | 1 |
| ficolin-1-rich granule | 1 |
Protein interactions and networks
STRING
680 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STBD1 | F5GZY7 | F5GZY7 | 970 |
| STBD1 | GABARAPL2 | P60520 | 691 |
| STBD1 | CCDC62 | Q6P9F0 | 616 |
| STBD1 | AGL | P35573 | 613 |
| STBD1 | GABARAP | O95166 | 607 |
| STBD1 | EPM2A | O95278 | 605 |
| STBD1 | CALCOCO2 | Q13137 | 577 |
| STBD1 | SQSTM1 | Q13501 | 548 |
| STBD1 | OPTN | Q96CV9 | 546 |
| STBD1 | ACMSD | Q8TDX5 | 539 |
| STBD1 | NBR1 | Q14596 | 529 |
| STBD1 | GYG1 | P46976 | 490 |
| STBD1 | GYG2 | O15488 | 487 |
| STBD1 | MCCC1 | Q96RQ3 | 479 |
| STBD1 | SYT12 | Q8IV01 | 448 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GABARAPL1 | STBD1 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| STBD1 | GABARAPL1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| GABARAP | STBD1 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| GABARAP | STBD1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| STBD1 | GABARAP | psi-mi:“MI:0914”(association) | 0.760 |
| GABARAPL2 | IPO5 | psi-mi:“MI:0914”(association) | 0.690 |
| STBD1 | GABARAPL2 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| GABARAPL2 | STBD1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| GABARAPL1 | IPO5 | psi-mi:“MI:0914”(association) | 0.590 |
| GABARAP | IPO5 | psi-mi:“MI:0914”(association) | 0.590 |
| KASH5 | STBD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STBD1 | KASH5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAP1LC3B | STBD1 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| MAP1LC3B | STBD1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| KLRG2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| STBD1 | MID1 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKAB2 | STBD1 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R3C | STBD1 | psi-mi:“MI:0914”(association) | 0.530 |
| PYGB | STBD1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAP1LC3A | STBD1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATF7IP | STBD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GABARAPL1 | GABARAP | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL2 | psi-mi:“MI:0914”(association) | 0.350 | |
| GABARAPL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| GABARAP | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (193): CCDC155 (Two-hybrid), STBD1 (Affinity Capture-RNA), STBD1 (Affinity Capture-MS), GYG1 (Affinity Capture-MS), GYS2 (Affinity Capture-MS), GYS1 (Affinity Capture-MS), GABARAP (Affinity Capture-MS), GABARAPL1 (Affinity Capture-MS), PYGB (Affinity Capture-MS), MID1 (Affinity Capture-MS), WDFY1 (Affinity Capture-MS), GYG2 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), EPM2A (Affinity Capture-MS), COL4A2 (Affinity Capture-MS)
ESM2 similar proteins: A2ALU4, A6NMK8, B1ASB6, B2RQL2, F6WEQ6, O00220, O14763, O35305, O95210, P16382, P20333, P24394, P25119, P28908, P36941, P50284, P97525, Q0VET5, Q13651, Q3TYD6, Q3U0P1, Q5PQK4, Q5SX79, Q5ZK13, Q60846, Q63257, Q66JV7, Q68CR7, Q6GQV1, Q6P1D7, Q6PHB0, Q6PJW8, Q6WG24, Q6ZRS4, Q76N32, Q80WY6, Q80XI1, Q863Z5, Q8BLK9, Q8BX35
Diamond homologs: D8Q9M3, O95210, P36914, Q2QTC2, Q5FVN1, Q6ZY51, Q8C7E7, A0A059WGE7, A0A0X1KHF9, A0A151V4J3, P22998, Q0CGA6, Q5B1W7, Q81BR3, Q9YEC5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Macroautophagy | 6 | 27.7× | 7e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| autophagosome maturation | 5 | 56.6× | 2e-06 |
| mitophagy | 5 | 51.3× | 2e-06 |
| autophagosome assembly | 5 | 36.2× | 9e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
385 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:76309139:CTTA:C | acceptor_loss | 1.0000 |
| 4:76309141:TA:T | acceptor_loss | 1.0000 |
| 4:76309142:A:AG | acceptor_gain | 1.0000 |
| 4:76309142:A:AT | acceptor_loss | 1.0000 |
| 4:76309142:AG:A | acceptor_loss | 1.0000 |
| 4:76309143:G:GA | acceptor_gain | 1.0000 |
| 4:76309143:G:GG | acceptor_gain | 1.0000 |
| 4:76309143:GA:G | acceptor_gain | 1.0000 |
| 4:76309143:GAGC:G | acceptor_gain | 1.0000 |
| 4:76309133:T:A | acceptor_gain | 0.9900 |
| 4:76309143:GAGCA:G | acceptor_gain | 0.9900 |
| 4:76306987:CAGGT:C | donor_loss | 0.9800 |
| 4:76306990:G:T | donor_loss | 0.9800 |
| 4:76307792:C:T | donor_gain | 0.9800 |
| 4:76307975:TTGAA:T | donor_gain | 0.9800 |
| 4:76309141:TAGA:T | acceptor_gain | 0.9500 |
| 4:76308822:G:GG | donor_gain | 0.9400 |
| 4:76309136:T:G | acceptor_gain | 0.9400 |
| 4:76309142:AGAG:A | acceptor_gain | 0.9400 |
| 4:76309139:CTTAG:C | acceptor_gain | 0.9300 |
| 4:76309140:TTAG:T | acceptor_gain | 0.9300 |
| 4:76309141:TAG:T | acceptor_gain | 0.9300 |
| 4:76309142:AGA:A | acceptor_gain | 0.9300 |
| 4:76309143:G:T | acceptor_gain | 0.9300 |
| 4:76309135:A:AG | acceptor_gain | 0.8900 |
| 4:76309140:TTAGA:T | acceptor_gain | 0.8800 |
| 4:76307862:G:GA | donor_gain | 0.8700 |
| 4:76308737:AC:A | donor_gain | 0.8700 |
| 4:76308821:A:AG | donor_gain | 0.8700 |
| 4:76306986:CCAGG:C | donor_loss | 0.8500 |
AlphaMissense
2356 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:76309884:T:A | W321R | 0.996 |
| 4:76309884:T:C | W321R | 0.996 |
| 4:76309726:T:C | F268S | 0.991 |
| 4:76309925:G:C | W334C | 0.991 |
| 4:76309925:G:T | W334C | 0.991 |
| 4:76309923:T:A | W334R | 0.989 |
| 4:76309923:T:C | W334R | 0.989 |
| 4:76309725:T:C | F268L | 0.988 |
| 4:76309727:C:A | F268L | 0.988 |
| 4:76309727:C:G | F268L | 0.988 |
| 4:76309800:T:A | W293R | 0.986 |
| 4:76309800:T:C | W293R | 0.986 |
| 4:76309802:G:C | W293C | 0.985 |
| 4:76309802:G:T | W293C | 0.985 |
| 4:76309886:G:C | W321C | 0.983 |
| 4:76309886:G:T | W321C | 0.983 |
| 4:76309988:G:C | W355C | 0.980 |
| 4:76309988:G:T | W355C | 0.980 |
| 4:76309885:G:C | W321S | 0.979 |
| 4:76309890:T:C | F323L | 0.979 |
| 4:76309891:T:C | F323S | 0.979 |
| 4:76309892:T:A | F323L | 0.979 |
| 4:76309892:T:G | F323L | 0.979 |
| 4:76309768:C:A | A282E | 0.978 |
| 4:76309921:G:C | R333P | 0.976 |
| 4:76309986:T:A | W355R | 0.976 |
| 4:76309986:T:C | W355R | 0.976 |
| 4:76309889:G:C | K322N | 0.974 |
| 4:76309889:G:T | K322N | 0.974 |
| 4:76306782:T:A | W5R | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000182804 (4:76305194 A>T), RS1000466703 (4:76308295 T>A), RS1000786600 (4:76306677 G>A,T), RS1000859234 (4:76307716 C>T), RS1001119857 (4:76308912 A>G), RS1001302329 (4:76306470 T>C), RS1001685665 (4:76310204 GCA>G,GCACA), RS1002280214 (4:76308205 G>GTT), RS1002588633 (4:76307152 A>C,T), RS1002716351 (4:76308012 C>G,T), RS1003076957 (4:76309811 C>T), RS1003294698 (4:76308175 A>G), RS1003314024 (4:76306633 C>A,G,T), RS1004152337 (4:76307616 C>T), RS1004413064 (4:76307185 C>T)
Disease associations
OMIM: gene MIM:607406 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000528_2 | Parkinson’s disease | 4.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 4 |
| bisphenol A | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| chlortoluron | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| zinc chloride | decreases reaction, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression, decreases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| resorcinol | increases expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| NCS 382 | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.