GOLGA7
gene geneOn this page
Also known as GCP16HSPC041GOLGA3AP1GOLGA7A
Summary
GOLGA7 (golgin A7, HGNC:24876) is a protein-coding gene on chromosome 8p11.21, encoding Golgin subfamily A member 7 (Q7Z5G4). May be involved in protein transport from Golgi to cell surface.
Involved in Golgi to plasma membrane protein transport; peptidyl-L-cysteine S-palmitoylation; and protein stabilization. Acts upstream of or within Golgi to plasma membrane transport. Located in Golgi membrane and Golgi stack. Part of palmitoyltransferase complex.
Source: NCBI Gene 51125 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 17 total
- MANE Select transcript:
NM_001002296
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24876 |
| Approved symbol | GOLGA7 |
| Name | golgin A7 |
| Location | 8p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GCP16, HSPC041, GOLGA3AP1, GOLGA7A |
| Ensembl gene | ENSG00000147533 |
| Ensembl biotype | protein_coding |
| OMIM | 609453 |
| Entrez | 51125 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 24 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000357743, ENST00000405786, ENST00000518270, ENST00000520817, ENST00000521417, ENST00000523128, ENST00000523420, ENST00000687203, ENST00000688142, ENST00000694863, ENST00000694865, ENST00000694872, ENST00000694873, ENST00000694874, ENST00000694875, ENST00000694876, ENST00000694877, ENST00000694878, ENST00000694879, ENST00000694883, ENST00000694884, ENST00000694885, ENST00000694886, ENST00000694887, ENST00000694888, ENST00000694889, ENST00000694890, ENST00000694908, ENST00000694909, ENST00000694910, ENST00000694911, ENST00000694913, ENST00000694915, ENST00000694916
RefSeq mRNA: 5 — MANE Select: NM_001002296
NM_001002296, NM_001174124, NM_001362979, NM_001362980, NM_016099
CCDS: CCDS34887, CCDS55226
Canonical transcript exons
ENST00000357743 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001527013 | 41490582 | 41490965 |
| ENSE00002093074 | 41509584 | 41510980 |
| ENSE00003568474 | 41507059 | 41507121 |
| ENSE00003637833 | 41497509 | 41497661 |
| ENSE00003669753 | 41505911 | 41506012 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.5155 / max 366.5055, expressed in 1824 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88639 | 46.3522 | 1822 |
| 88637 | 1.7217 | 852 |
| 88640 | 1.3183 | 831 |
| 88641 | 0.5073 | 153 |
| 88642 | 0.4174 | 72 |
| 88638 | 0.1647 | 53 |
| 205167 | 0.0338 | 23 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| inferior vagus X ganglion | UBERON:0005363 | 98.39 | gold quality |
| corpus callosum | UBERON:0002336 | 98.09 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.92 | gold quality |
| spinal cord | UBERON:0002240 | 97.75 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.70 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.70 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.69 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.66 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.63 | gold quality |
| upper leg skin | UBERON:0004262 | 97.56 | gold quality |
| secondary oocyte | CL:0000655 | 97.32 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 97.30 | gold quality |
| midbrain | UBERON:0001891 | 97.29 | gold quality |
| substantia nigra | UBERON:0002038 | 97.24 | gold quality |
| skin of hip | UBERON:0001554 | 97.16 | gold quality |
| pons | UBERON:0000988 | 97.13 | gold quality |
| amygdala | UBERON:0001876 | 96.98 | gold quality |
| ventricular zone | UBERON:0003053 | 96.95 | gold quality |
| putamen | UBERON:0001874 | 96.88 | gold quality |
| globus pallidus | UBERON:0001875 | 96.80 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.80 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.79 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.64 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.63 | gold quality |
| medial globus pallidus | UBERON:0002477 | 96.62 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.59 | gold quality |
| endothelial cell | CL:0000115 | 96.54 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.51 | gold quality |
| parietal lobe | UBERON:0001872 | 96.29 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8060 | no | 494.61 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
105 targeting GOLGA7, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
Literature-anchored findings (GeneRIF, showing 3)
- results indicate that GCP16 is the acylated membrane protein, associated with GCP170, and possibly involved in vesicular transport from the Golgi to the cell surface (PMID:14522980)
- Data show that H- and N-Ras are palmitoylated by a human protein palmitoyltransferase encoded by the ZDHHC9 and GCP16 genes. (PMID:16000296)
- The interactions of ZDHHC5/GOLGA7 with SARS-CoV-2 spike (S) protein and their effects on S protein’s subcellular localization, palmitoylation and pseudovirus entry. (PMID:34961524)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | golga7 | ENSDARG00000057676 |
| mus_musculus | Golga7 | ENSMUSG00000015341 |
| rattus_norvegicus | Golga7 | ENSRNOG00000017956 |
| drosophila_melanogaster | CG5447 | FBGN0039427 |
| caenorhabditis_elegans | WBGENE00013323 |
Paralogs (1): GOLGA7B (ENSG00000155265)
Protein
Protein identifiers
Golgin subfamily A member 7 — Q7Z5G4 (reviewed: Q7Z5G4)
Alternative names: Golgi complex-associated protein of 16 kDa
All UniProt accessions (7): Q7Z5G4, A0A8I5KQW6, A0A8I5KXE5, A0A8Q3SHJ7, A0A8Q3WKQ1, A0A8Q3WLM5, A0A8Q3WLN5
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS.
Subunit / interactions. Interacts with GOLGA3. Interacts with ZDHHC9.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in all tissues except colon and thymus.
Post-translational modifications. Palmitoylated on Cys-69 and Cys-72; which is required for Golgi localization and interaction with GOLGA3.
Similarity. Belongs to the ERF4 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z5G4-1 | 1 | yes |
| Q7Z5G4-3 | 2 |
RefSeq proteins (5): NP_001002296, NP_001167595, NP_001349908, NP_001349909, NP_057183 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019383 | Golgin_A_7/ERF4 | Domain |
| IPR051371 | Ras_palmitoyltransferase | Family |
Pfam: PF10256
UniProt features (19 total): turn 4, helix 4, mutagenesis site 4, lipid moiety-binding region 2, strand 2, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8HF3 | ELECTRON MICROSCOPY | 3.4 |
| 9OA6 | ELECTRON MICROSCOPY | 3.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z5G4-F1 | 89.24 | 0.67 |
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): 69, 72
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 24 | slightly reduces palmitoylation. |
| 69 | strongly reduces palmitoylation. abolishes palmitoylation and golgi localization; when associated with a-72. |
| 72 | strongly reduces palmitoylation. abolishes palmitoylation and golgi localization; when associated with a-69. |
| 81 | slightly reduces palmitoylation. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-9648002 | RAS processing |
| R-HSA-9694548 | Maturation of spike protein |
MSigDB gene sets: 229 (showing top):
GCM_MAP4K4, REACTOME_INNATE_IMMUNE_SYSTEM, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOCC_SECRETORY_GRANULE, AAGCCAT_MIR135A_MIR135B, GOBP_PROTEIN_TARGETING, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PEPTIDYL_CYSTEINE_MODIFICATION, CAGCTG_AP4_Q5, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_LIPOPROTEIN_BIOSYNTHETIC_PROCESS
GO Biological Process (6): protein targeting to membrane (GO:0006612), Golgi to plasma membrane transport (GO:0006893), Golgi to plasma membrane protein transport (GO:0043001), post-translational protein modification (GO:0043687), peptidyl-L-cysteine S-palmitoylation (GO:0018230), protein stabilization (GO:0050821)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): Golgi membrane (GO:0000139), palmitoyltransferase complex (GO:0002178), extracellular region (GO:0005576), Golgi stack (GO:0005795), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| RAF/MAP kinase cascade | 1 |
| Translation of Structural Proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein targeting | 1 |
| establishment of protein localization to membrane | 1 |
| post-Golgi vesicle-mediated transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| Golgi to plasma membrane transport | 1 |
| protein transport | 1 |
| establishment of protein localization to plasma membrane | 1 |
| protein localization to plasma membrane | 1 |
| protein modification process | 1 |
| peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine | 1 |
| protein palmitoylation | 1 |
| regulation of protein stability | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| transferase complex | 1 |
| Golgi apparatus subcompartment | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| tertiary granule | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
744 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GOLGA7 | ZDHHC9 | Q9Y397 | 999 |
| GOLGA7 | ZFP36L2 | P47974 | 918 |
| GOLGA7 | GOLGA3 | Q08378 | 917 |
| GOLGA7 | ZDHHC5 | Q9C0B5 | 917 |
| GOLGA7 | NRAS | P01111 | 860 |
| GOLGA7 | HRAS | P01112 | 635 |
| GOLGA7 | ZDHHC2 | Q9UIJ5 | 616 |
| GOLGA7 | ZDHHC6 | Q9H6R6 | 610 |
| GOLGA7 | ZDHHC15 | Q96MV8 | 545 |
| GOLGA7 | ZDHHC3 | Q9NYG2 | 524 |
| GOLGA7 | ZDHHC8 | Q9ULC8 | 516 |
| GOLGA7 | TOGARAM1 | Q9Y4F4 | 514 |
| GOLGA7 | TMEM260 | Q9NX78 | 505 |
| GOLGA7 | ZDHHC20 | Q5W0Z9 | 490 |
| GOLGA7 | ZDHHC16 | Q969W1 | 490 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZDHHC5 | S | psi-mi:“MI:0914”(association) | 0.860 |
| S | GOLGA7 | psi-mi:“MI:0914”(association) | 0.820 |
| GOLGA7 | S | psi-mi:“MI:0914”(association) | 0.820 |
| S | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.820 |
| GOLGA7 | S | psi-mi:“MI:0403”(colocalization) | 0.820 |
| GOLGA7 | ZDHHC5 | psi-mi:“MI:0403”(colocalization) | 0.710 |
| GOLGA7 | ZDHHC5 | psi-mi:“MI:0914”(association) | 0.710 |
| GYPA | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| GYPA | GOLGA7 | psi-mi:“MI:0914”(association) | 0.640 |
| ACTN2 | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNIP3 | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA7 | MID2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA7 | KCNIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM72D | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA7 | KCNIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCALD | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNIP4 | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MESD | GOLGA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA7 | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| HAVCR2 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (88): GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Two-hybrid), GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Affinity Capture-MS), GOLGA7 (Synthetic Lethality), GOLGA7 (Affinity Capture-RNA), GOLGA7 (Affinity Capture-MS), GOLGA3 (Affinity Capture-Western), GOLGA7 (Affinity Capture-RNA)
ESM2 similar proteins: B3M9W1, B3NDM7, B4FF80, B4FUS3, B4GRI8, B4HIJ8, B4J043, B4L0H1, B4LIH0, B4MXW6, B4QLP9, B6TYV8, B6TZ45, D9HP19, D9HP20, D9HP23, D9HP25, D9HP26, D9HP27, P0CW97, P0CW98, Q0VBW2, Q3ZCB2, Q4PIP8, Q5EA55, Q5REK4, Q5ZLC9, Q66I68, Q6AYQ1, Q6C938, Q6DK93, Q6DK99, Q6FLC9, Q6NUC1, Q6PCW6, Q7Z5G4, Q8S8T8, Q91W53, Q95T12, Q9BYD5
Diamond homologs: Q2TAP0, Q5EA55, Q5ZLC9, Q6AYQ1, Q7Z5G4, Q91W53, Q9D428
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GOLGA7 | “up-regulates activity” | HRAS | palmitoylation |
| GOLGA7 | “up-regulates activity” | ZDHHC9 | binding |
| GOLGA7 | “up-regulates activity” | NRAS | palmitoylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein localization to plasma membrane | 6 | 13.3× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 7 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
948 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:41497505:A:AG | acceptor_gain | 1.0000 |
| 8:41497506:C:G | acceptor_gain | 1.0000 |
| 8:41497507:A:AG | acceptor_gain | 1.0000 |
| 8:41497507:AGATT:A | acceptor_gain | 1.0000 |
| 8:41497508:G:GT | acceptor_gain | 1.0000 |
| 8:41497508:GA:G | acceptor_gain | 1.0000 |
| 8:41497508:GAT:G | acceptor_gain | 1.0000 |
| 8:41497508:GATT:G | acceptor_gain | 1.0000 |
| 8:41497508:GATTG:G | acceptor_gain | 1.0000 |
| 8:41497657:AGAAG:A | donor_loss | 1.0000 |
| 8:41497659:AAG:A | donor_loss | 1.0000 |
| 8:41497660:AGG:A | donor_loss | 1.0000 |
| 8:41497661:GG:G | donor_loss | 1.0000 |
| 8:41497662:G:A | donor_loss | 1.0000 |
| 8:41497663:T:G | donor_loss | 1.0000 |
| 8:41490822:C:CA | acceptor_gain | 0.9900 |
| 8:41490831:A:AG | acceptor_gain | 0.9900 |
| 8:41490831:AGCGC:A | acceptor_gain | 0.9900 |
| 8:41490832:G:GA | acceptor_gain | 0.9900 |
| 8:41490832:GC:G | acceptor_gain | 0.9900 |
| 8:41490832:GCGC:G | acceptor_gain | 0.9900 |
| 8:41490832:GCGCG:G | acceptor_gain | 0.9900 |
| 8:41490963:CGGG:C | donor_loss | 0.9900 |
| 8:41490964:GG:G | donor_gain | 0.9900 |
| 8:41490965:GG:G | donor_gain | 0.9900 |
| 8:41490965:GGTA:G | donor_loss | 0.9900 |
| 8:41490966:GT:G | donor_loss | 0.9900 |
| 8:41490967:T:A | donor_loss | 0.9900 |
| 8:41491002:G:GT | donor_gain | 0.9900 |
| 8:41497503:CTACA:C | acceptor_gain | 0.9900 |
AlphaMissense
885 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:41490891:T:C | F13L | 1.000 |
| 8:41490893:C:A | F13L | 1.000 |
| 8:41490893:C:G | F13L | 1.000 |
| 8:41490930:T:C | F26L | 1.000 |
| 8:41490931:T:C | F26S | 1.000 |
| 8:41490931:T:G | F26C | 1.000 |
| 8:41490932:C:A | F26L | 1.000 |
| 8:41490932:C:G | F26L | 1.000 |
| 8:41497611:T:C | C72R | 1.000 |
| 8:41497618:C:T | T74I | 1.000 |
| 8:41497621:C:A | A75E | 1.000 |
| 8:41505945:A:C | Q100P | 1.000 |
| 8:41505975:T:C | L110P | 1.000 |
| 8:41505989:C:T | P115S | 1.000 |
| 8:41505990:C:A | P115H | 1.000 |
| 8:41505990:C:G | P115R | 1.000 |
| 8:41505999:G:C | R118P | 1.000 |
| 8:41506001:G:A | G119R | 1.000 |
| 8:41506001:G:C | G119R | 1.000 |
| 8:41506002:G:A | G119E | 1.000 |
| 8:41506002:G:T | G119V | 1.000 |
| 8:41506005:T:C | L120P | 1.000 |
| 8:41490901:G:C | R16P | 0.999 |
| 8:41490901:G:T | R16L | 0.999 |
| 8:41490930:T:A | F26I | 0.999 |
| 8:41490930:T:G | F26V | 0.999 |
| 8:41490955:T:A | L34Q | 0.999 |
| 8:41490955:T:C | L34P | 0.999 |
| 8:41497525:T:C | F43S | 0.999 |
| 8:41497537:T:A | V47D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000054599 (8:41509623 G>A), RS1000133883 (8:41488978 A>G), RS1000144529 (8:41507448 A>G), RS1000425942 (8:41495355 G>A,T), RS1000995524 (8:41504147 CA>C,CAA), RS1001214737 (8:41499127 C>G,T), RS1001273139 (8:41490184 G>A,T), RS1001369653 (8:41506171 A>T), RS1001571372 (8:41497097 ACCGCACCTGG>A), RS1001614546 (8:41509132 A>G), RS1001741610 (8:41491933 G>A,C), RS1001748108 (8:41501578 T>C), RS1002075502 (8:41493569 C>T), RS1002083764 (8:41503323 G>A,C), RS1002107978 (8:41493225 T>C)
Disease associations
OMIM: gene MIM:609453 | 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 |
|---|---|---|
| GCST009391_1765 | Metabolite levels | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010370 | lysophosphatidylethanolamine 20:4 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects expression | 2 |
| cobaltous chloride | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | 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.