GOSR1
gene geneOn this page
Also known as GOS28P28GS28GOS-28GOLIM2
Summary
GOSR1 (golgi SNAP receptor complex member 1, HGNC:4430) is a protein-coding gene on chromosome 17q11.2, encoding Golgi SNAP receptor complex member 1 (O95249). Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport.
This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 9527 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_001007025
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4430 |
| Approved symbol | GOSR1 |
| Name | golgi SNAP receptor complex member 1 |
| Location | 17q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GOS28, P28, GS28, GOS-28, GOLIM2 |
| Ensembl gene | ENSG00000108587 |
| Ensembl biotype | protein_coding |
| OMIM | 604026 |
| Entrez | 9527 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000225724, ENST00000414833, ENST00000427274, ENST00000451249, ENST00000467337, ENST00000467635, ENST00000477885, ENST00000491489, ENST00000494918, ENST00000537788, ENST00000579905, ENST00000581721, ENST00000870797, ENST00000915315, ENST00000955362
RefSeq mRNA: 3 — MANE Select: NM_001007025
NM_001007024, NM_001007025, NM_004871
CCDS: CCDS11258, CCDS45643, CCDS45644
Canonical transcript exons
ENST00000451249 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002357787 | 30492679 | 30492753 |
| ENSE00002701917 | 30522254 | 30527592 |
| ENSE00002708653 | 30477408 | 30477464 |
| ENSE00002817429 | 30490126 | 30490217 |
| ENSE00003465732 | 30519939 | 30520021 |
| ENSE00003495989 | 30510880 | 30510909 |
| ENSE00003578422 | 30484214 | 30484301 |
| ENSE00003619334 | 30481143 | 30481257 |
| ENSE00003619882 | 30484663 | 30484770 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 96.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.8498 / max 566.0642, expressed in 1816 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160138 | 37.8498 | 1816 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.99 | gold quality |
| nipple | UBERON:0002030 | 95.90 | gold quality |
| tibia | UBERON:0000979 | 95.88 | gold quality |
| visceral pleura | UBERON:0002401 | 95.84 | gold quality |
| caput epididymis | UBERON:0004358 | 95.81 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.75 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.74 | gold quality |
| parietal pleura | UBERON:0002400 | 95.19 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.18 | gold quality |
| pleura | UBERON:0000977 | 94.93 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.88 | gold quality |
| paraflocculus | UBERON:0005351 | 94.84 | gold quality |
| pylorus | UBERON:0001166 | 94.72 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.58 | gold quality |
| cranial nerve II | UBERON:0000941 | 94.53 | gold quality |
| renal medulla | UBERON:0000362 | 94.36 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.34 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.10 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.76 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.71 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.55 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.44 | gold quality |
| frontal pole | UBERON:0002795 | 93.43 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 93.39 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.35 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 93.32 | gold quality |
| mammalian vulva | UBERON:0000997 | 93.27 | gold quality |
| bronchus | UBERON:0002185 | 93.27 | gold quality |
| lower lobe of lung | UBERON:0008949 | 93.00 | gold quality |
| adult organism | UBERON:0007023 | 92.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.97 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1
miRNA regulators (miRDB)
214 targeting GOSR1, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
Literature-anchored findings (GeneRIF, showing 9)
- Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport. (PMID:12388752)
- RINT-1 coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18. (PMID:16571679)
- Apolipoprotein E, growth factor receptor-bound protein 2, Golgi SNAP receptor complex member 1, and glucosidase, beta, acid may play a neurodegenerative role in stress urinary incontinence development. (PMID:20700730)
- ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function. (PMID:21669198)
- GS28 may potentiate cells to DNA-damage-induced apoptosis by inhibiting the ubiquitination and degradation of p53. (PMID:22397410)
- Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections (PMID:23387339)
- High nuclear expression of GS28 is associated with poor prognosis in early-stage cervical cancer patients. GS28 might be a novel prognostic marker and a potential therapeutic target in cervical cancer treatment. (PMID:27611086)
- these results indicate that GS28 nuclear predominant expression could serve as a prognostic marker for colorectal cancer (CRC) and may help in identifying aggressive forms of CRC (PMID:28638266)
- Diverse Role of SNARE Protein GS28 in Vesicle Trafficking and Diseases. (PMID:36924089)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gosr1 | ENSDARG00000026654 |
| mus_musculus | Gosr1 | ENSMUSG00000010392 |
| rattus_norvegicus | Gosr1 | ENSRNOG00000070572 |
| drosophila_melanogaster | Gos28 | FBGN0044871 |
| caenorhabditis_elegans | WBGENE00017273 |
Protein
Protein identifiers
Golgi SNAP receptor complex member 1 — O95249 (reviewed: O95249)
Alternative names: 28 kDa Golgi SNARE protein, 28 kDa cis-Golgi SNARE p28
All UniProt accessions (6): O95249, B4DQA8, E9PCW1, F6RU00, G5E9T8, K7EJC8
UniProt curated annotations — full annotation on UniProt →
Function. Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi.
Subunit / interactions. Component of several multiprotein Golgi SNARE complexes. Identified in a SNARE complex with BET1, STX5 and YKT6, in a SNARE complex with BET1L, STX5 and YKT6, in a SNARE complex with STX5, GOSR2, SEC22B and BET1, and in complex with STX5 and COG3. Interacts with GABARAPL2.
Subcellular location. Golgi apparatus membrane.
Induction. Expression induced by hydrogen peroxide in neuronal cells. By monocrotaline in pulmonary epithelial cells (at protein level). Negatively regulated by OSBPL7 via GABARAPL2 leading to degradation on proteasomes (at protein level).
Similarity. Belongs to the GOSR1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95249-1 | 1 | yes |
| O95249-2 | 2 |
RefSeq proteins (3): NP_001007025, NP_001007026, NP_004862 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR023601 | Golgi_SNAP_su1 | Family |
Pfam: PF12352
UniProt features (16 total): sequence conflict 5, coiled-coil region 2, modified residue 2, initiator methionine 1, chain 1, splice variant 1, topological domain 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95249-F1 | 84.74 | 0.50 |
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 (2): 2, 141
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811438 | Intra-Golgi traffic |
MSigDB gene sets: 188 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, JI_RESPONSE_TO_FSH_UP, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, chr17q11, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, FOSTER_TOLERANT_MACROPHAGE_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANELLE_MEMBRANE_FUSION, SCHLOSSER_SERUM_RESPONSE_DN
GO Biological Process (7): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), intra-Golgi vesicle-mediated transport (GO:0006891), vesicle fusion (GO:0006906), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147), inter-Golgi cisterna vesicle-mediated transport (GO:0048219), vesicle-mediated transport (GO:0016192)
GO Molecular Function (1): SNAP receptor activity (GO:0005484)
GO Cellular Component (8): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi medial cisterna (GO:0005797), cis-Golgi network (GO:0005801), cytosol (GO:0005829), membrane (GO:0016020), transport vesicle (GO:0030133), SNARE complex (GO:0031201)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intercellular transport | 2 |
| Golgi vesicle transport | 2 |
| transport | 2 |
| Golgi apparatus | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| intracellular transport | 1 |
| vesicle organization | 1 |
| vesicle-mediated transport | 1 |
| organelle membrane fusion | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| intra-Golgi vesicle-mediated transport | 1 |
| cellular process | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| bounding membrane of organelle | 1 |
| Golgi cisterna | 1 |
| cytoplasmic vesicle | 1 |
| membrane protein complex | 1 |
Protein interactions and networks
STRING
1968 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GOSR1 | STX5 | Q13190 | 999 |
| GOSR1 | YKT6 | O15498 | 994 |
| GOSR1 | GOSR2 | O14653 | 972 |
| GOSR1 | BET1 | O15155 | 969 |
| GOSR1 | SEC22B | O75396 | 961 |
| GOSR1 | SCFD1 | Q8WVM8 | 936 |
| GOSR1 | VTI1B | Q9UEU0 | 922 |
| GOSR1 | VAMP5 | O95183 | 838 |
| GOSR1 | VTI1A | Q96AJ9 | 768 |
| GOSR1 | BET1L | Q9NYM9 | 755 |
| GOSR1 | GABARAPL2 | P60520 | 753 |
| GOSR1 | COG7 | P83436 | 752 |
| GOSR1 | STX16 | O14662 | 736 |
| GOSR1 | STX6 | O43752 | 731 |
| GOSR1 | SEC22A | Q96IW7 | 696 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOSR2 | BET1 | psi-mi:“MI:0914”(association) | 0.810 |
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| FAM9C | NDC80 | psi-mi:“MI:0914”(association) | 0.670 |
| STX6 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| USE1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| GOSR1 | SEC22B | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| MRAP2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| STX11 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| STX3 | YKT6 | psi-mi:“MI:0914”(association) | 0.530 |
| NAPA | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| STX3 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| BET1 | SNAP23 | psi-mi:“MI:0914”(association) | 0.420 |
| ORF55 | GOSR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATAD1 | GOSR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GOSR1 | GPR182 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OCRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (223): GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-Western), GOSR1 (Co-fractionation), GOSR1 (Proximity Label-MS), GOSR1 (Proximity Label-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS)
ESM2 similar proteins: G3V7P1, O08522, O14662, O15400, O22151, O43752, O49377, O60499, O64791, O70257, O70439, O70480, O75379, O88384, O88630, O88983, O95249, P58200, Q08851, Q08DB5, Q13190, Q2KIU0, Q2TBU3, Q32L97, Q3T075, Q3ZBT5, Q5R602, Q5R6Q2, Q5RBL6, Q5RBW6, Q5RF94, Q5SRX1, Q5ZL19, Q62931, Q63635, Q86Y82, Q8BVI5, Q8K1E0, Q944A9, Q946Y7
Diamond homologs: A8XLW0, O08522, O22151, O88630, O95249, Q2TBU3, Q5RBL6, Q62931, Q95ZW1, Q9VE50, Q9LMP7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 126 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 |
|---|---|---|---|
| Intra-Golgi traffic | 7 | 23.3× | 7e-06 |
| Regulation of RAS by GAPs | 5 | 12.4× | 8e-04 |
| COPII-mediated vesicle transport | 5 | 10.5× | 1e-03 |
| ER-Phagosome pathway | 6 | 10.0× | 6e-04 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 7 | 9.4× | 3e-04 |
| RAC3 GTPase cycle | 5 | 7.6× | 4e-03 |
| COPI-mediated anterograde transport | 5 | 7.0× | 4e-03 |
| Membrane Trafficking | 12 | 5.7× | 9e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking | 6 | 41.8× | 2e-06 |
| zinc ion transmembrane transport | 6 | 38.3× | 2e-06 |
| vesicle fusion | 6 | 32.8× | 3e-06 |
| intracellular zinc ion homeostasis | 7 | 30.6× | 2e-06 |
| intracellular protein transport | 9 | 5.3× | 3e-03 |
| protein transport | 12 | 4.8× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1813 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:30477462:A:T | donor_gain | 1.0000 |
| 17:30481135:T:TA | acceptor_gain | 1.0000 |
| 17:30481140:A:G | acceptor_gain | 1.0000 |
| 17:30481141:A:G | acceptor_gain | 1.0000 |
| 17:30481141:AG:A | acceptor_loss | 1.0000 |
| 17:30481142:G:GG | acceptor_gain | 1.0000 |
| 17:30481142:GAT:G | acceptor_gain | 1.0000 |
| 17:30484212:A:AG | acceptor_gain | 1.0000 |
| 17:30484213:G:GT | acceptor_gain | 1.0000 |
| 17:30484213:GT:G | acceptor_gain | 1.0000 |
| 17:30484213:GTT:G | acceptor_gain | 1.0000 |
| 17:30484213:GTTC:G | acceptor_gain | 1.0000 |
| 17:30484213:GTTCT:G | acceptor_gain | 1.0000 |
| 17:30484299:AGG:A | donor_gain | 1.0000 |
| 17:30484300:GG:G | donor_gain | 1.0000 |
| 17:30484300:GGG:G | donor_gain | 1.0000 |
| 17:30484301:GG:G | donor_gain | 1.0000 |
| 17:30484302:G:GG | donor_gain | 1.0000 |
| 17:30484302:GTAA:G | donor_loss | 1.0000 |
| 17:30484303:T:A | donor_loss | 1.0000 |
| 17:30484661:A:AG | acceptor_gain | 1.0000 |
| 17:30484662:G:GA | acceptor_gain | 1.0000 |
| 17:30492673:TCCCA:T | acceptor_loss | 1.0000 |
| 17:30492674:CCCA:C | acceptor_loss | 1.0000 |
| 17:30492675:CCAG:C | acceptor_loss | 1.0000 |
| 17:30492677:A:T | acceptor_loss | 1.0000 |
| 17:30492678:G:GA | acceptor_loss | 1.0000 |
| 17:30492750:GAAA:G | donor_gain | 1.0000 |
| 17:30492754:G:GG | donor_gain | 1.0000 |
| 17:30510908:AG:A | donor_loss | 1.0000 |
AlphaMissense
1643 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:30481191:T:C | L27P | 1.000 |
| 17:30484664:T:C | L81P | 1.000 |
| 17:30484751:G:C | R110P | 1.000 |
| 17:30519943:G:C | A184P | 1.000 |
| 17:30481149:G:T | R13M | 0.999 |
| 17:30481157:G:C | A16P | 0.999 |
| 17:30481158:C:A | A16D | 0.999 |
| 17:30481161:G:C | R17P | 0.999 |
| 17:30481171:A:C | E20D | 0.999 |
| 17:30481171:A:T | E20D | 0.999 |
| 17:30481179:T:C | L23P | 0.999 |
| 17:30484685:T:G | M88R | 0.999 |
| 17:30484753:C:G | H111D | 0.999 |
| 17:30484754:A:C | H111P | 0.999 |
| 17:30490190:T:C | L138P | 0.999 |
| 17:30519944:C:A | A184D | 0.999 |
| 17:30519949:G:C | A186P | 0.999 |
| 17:30522326:G:A | G234E | 0.999 |
| 17:30522337:G:A | G238R | 0.999 |
| 17:30522337:G:C | G238R | 0.999 |
| 17:30522343:T:C | C240R | 0.999 |
| 17:30481170:A:T | E20V | 0.998 |
| 17:30481182:A:T | D24V | 0.998 |
| 17:30481191:T:A | L27Q | 0.998 |
| 17:30484685:T:A | M88K | 0.998 |
| 17:30484685:T:C | M88T | 0.998 |
| 17:30484738:C:G | H106D | 0.998 |
| 17:30484763:T:A | I114K | 0.998 |
| 17:30492747:T:C | L170P | 0.998 |
| 17:30510881:T:C | S173P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000061385 (17:30497825 G>A), RS1000064144 (17:30492006 T>C), RS1000069182 (17:30498792 G>C), RS1000115678 (17:30494344 T>G), RS1000153508 (17:30476658 A>G), RS1000164838 (17:30520148 G>A), RS1000350184 (17:30524044 T>G), RS1000359804 (17:30485588 C>T), RS1000362691 (17:30479716 G>T), RS1000469031 (17:30481947 T>G), RS1000480798 (17:30523073 G>A,C,T), RS1000621239 (17:30510771 A>C,G), RS1000623762 (17:30475530 A>G), RS1000676137 (17:30475893 A>G), RS1000705617 (17:30511100 A>C)
Disease associations
OMIM: gene MIM:604026 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | increases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Deferoxamine | affects reaction, decreases phosphorylation, decreases reaction | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nitroprusside | decreases phosphorylation, decreases reaction, decreases expression, affects reaction | 1 |
| Selenium | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vitamin E | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Thapsigargin | decreases expression | 1 |
| Palmitic Acid | decreases phosphorylation | 1 |
| Copper Sulfate | increases expression | 1 |
| Particulate Matter | increases abundance, increases 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.