GALNT15
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Also known as GALNT7pp-GalNAc-T15
Summary
GALNT15 (polypeptide N-acetylgalactosaminyltransferase 15, HGNC:21531) is a protein-coding gene on chromosome 3p25.1, encoding Polypeptide N-acetylgalactosaminyltransferase 15 (Q8N3T1). Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
Predicted to enable polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Located in transport vesicle.
Source: NCBI Gene 117248 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 125 total
- MANE Select transcript:
NM_054110
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21531 |
| Approved symbol | GALNT15 |
| Name | polypeptide N-acetylgalactosaminyltransferase 15 |
| Location | 3p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GALNT7, pp-GalNAc-T15 |
| Ensembl gene | ENSG00000131386 |
| Ensembl biotype | protein_coding |
| OMIM | 615131 |
| Entrez | 117248 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000339732, ENST00000430410, ENST00000437509, ENST00000470031, ENST00000489467, ENST00000650034, ENST00000893520, ENST00000893521, ENST00000893522, ENST00000893523, ENST00000961725, ENST00000961726, ENST00000961727, ENST00000961728, ENST00000961729
RefSeq mRNA: 2 — MANE Select: NM_054110
NM_001319051, NM_054110
CCDS: CCDS33711, CCDS82742
Canonical transcript exons
ENST00000339732 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000966075 | 16208503 | 16208670 |
| ENSE00000966076 | 16211124 | 16211241 |
| ENSE00000966077 | 16212569 | 16212763 |
| ENSE00001076089 | 16222615 | 16222758 |
| ENSE00001148843 | 16219910 | 16220014 |
| ENSE00001216745 | 16174680 | 16175690 |
| ENSE00001340796 | 16195760 | 16195926 |
| ENSE00001424394 | 16227354 | 16230165 |
| ENSE00003645906 | 16200619 | 16200823 |
| ENSE00003668384 | 16219403 | 16219534 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 98.87.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3373 / max 154.5542, expressed in 307 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35545 | 6.0288 | 619 |
| 35546 | 0.4638 | 182 |
| 35544 | 0.1244 | 77 |
| 35542 | 0.1206 | 36 |
| 35549 | 0.1117 | 54 |
| 35548 | 0.1022 | 47 |
| 35547 | 0.0971 | 42 |
| 35550 | 0.0924 | 40 |
| 35543 | 0.0769 | 24 |
| 35541 | 0.0738 | 20 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 98.87 | gold quality |
| decidua | UBERON:0002450 | 98.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.52 | gold quality |
| spinal cord | UBERON:0002240 | 97.50 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.39 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.11 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.02 | gold quality |
| pericardium | UBERON:0002407 | 96.40 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.39 | gold quality |
| omental fat pad | UBERON:0010414 | 95.34 | gold quality |
| peritoneum | UBERON:0002358 | 95.28 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.10 | gold quality |
| corpus callosum | UBERON:0002336 | 95.05 | gold quality |
| synovial joint | UBERON:0002217 | 94.79 | gold quality |
| pons | UBERON:0000988 | 94.45 | gold quality |
| adipose tissue | UBERON:0001013 | 94.45 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.14 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.09 | silver quality |
| medulla oblongata | UBERON:0001896 | 94.09 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 94.08 | gold quality |
| substantia nigra | UBERON:0002038 | 93.46 | gold quality |
| midbrain | UBERON:0001891 | 93.28 | gold quality |
| tendon | UBERON:0000043 | 92.85 | gold quality |
| tibial nerve | UBERON:0001323 | 92.52 | gold quality |
| left coronary artery | UBERON:0001626 | 92.01 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.99 | gold quality |
| popliteal artery | UBERON:0002250 | 91.64 | gold quality |
| tibial artery | UBERON:0007610 | 91.59 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.45 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.22 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 38.52 |
| E-ANND-3 | yes | 37.43 |
| E-HCAD-25 | yes | 4.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting GALNT15, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Galnt15 | ENSMUSG00000021903 |
| rattus_norvegicus | Galnt15 | ENSRNOG00000019718 |
| drosophila_melanogaster | Pgant7 | FBGN0030930 |
| drosophila_melanogaster | Pgant5 | FBGN0031681 |
| drosophila_melanogaster | Pgant6 | FBGN0035375 |
| drosophila_melanogaster | CG7304 | FBGN0036527 |
| drosophila_melanogaster | CG7579 | FBGN0036528 |
| drosophila_melanogaster | Pgant8 | FBGN0036529 |
| drosophila_melanogaster | Pgant9 | FBGN0050463 |
| drosophila_melanogaster | CG31776 | FBGN0051776 |
| drosophila_melanogaster | Pgant4 | FBGN0051956 |
| caenorhabditis_elegans | WBGENE00001628 | |
| caenorhabditis_elegans | WBGENE00001630 | |
| caenorhabditis_elegans | WBGENE00001632 | |
| caenorhabditis_elegans | WBGENE00001635 |
Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)
Protein
Protein identifiers
Polypeptide N-acetylgalactosaminyltransferase 15 — Q8N3T1 (reviewed: Q8N3T1)
Alternative names: Polypeptide GalNAc transferase-like protein 2, Polypeptide N-acetylgalactosaminyltransferase-like protein 2, Protein-UDP acetylgalactosaminyltransferase-like protein 2, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2
All UniProt accessions (3): A0A3B3IRY6, C9JGI4, Q8N3T1
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Widely expressed. Highly expressed in small intestine, placenta, spleen, cerebral cortex and ovary. Expressed at intermediate level in uterus, mammary gland, stomach, cerebellum and whole brain. Weakly expressed in fetal brain, bone marrow, thyroid gland, thymus, heart, skeletal muscle, lung, liver, colon, pancreas, kidney and testis. Not expressed in leukocyte. Expressed in both normal and osteoarthritic cartilage. Expressed at low level in chondrocytes in all zones of both normal and osteoarthritic cartilage.
Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
RefSeq proteins (2): NP_001305980, NP_473451* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000772 | Ricin_B_lectin | Domain |
| IPR001173 | Glyco_trans_2-like | Domain |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
| IPR035992 | Ricin_B-like_lectins | Homologous_superfamily |
| IPR045885 | GalNAc-T | Domain |
Pfam: PF00535, PF00652
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
- L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)
UniProt features (29 total): binding site 5, disulfide bond 5, sequence variant 5, region of interest 3, topological domain 2, glycosylation site 2, sequence conflict 2, compositionally biased region 2, chain 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N3T1-F1 | 77.98 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 231; 260; 283; 285; 417
Disulfide bonds (5): 181–412, 403–482, 517–536, 562–575, 603–620
Glycosylation sites (2): 107, 574
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-913709 | O-linked glycosylation of mucins |
MSigDB gene sets: 323 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, ROVERSI_GLIOMA_COPY_NUMBER_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, DITTMER_PTHLH_TARGETS_UP, chr4q34, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, CTATGCA_MIR153, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5
GO Biological Process (3): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486)
GO Molecular Function (6): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (4): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), transport vesicle (GO:0030133), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| O-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| endomembrane system | 2 |
| glycoprotein biosynthetic process | 1 |
| protein O-linked glycosylation | 1 |
| acetylgalactosaminyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| cation binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
664 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GALNT15 | PTCHD1 | Q96NR3 | 477 |
| GALNT15 | TMEM147 | Q9BVK8 | 452 |
| GALNT15 | DPP6 | P42658 | 439 |
| GALNT15 | DPH3 | Q96FX2 | 438 |
| GALNT15 | GBP7 | Q8N8V2 | 425 |
| GALNT15 | GCNT3 | O95395 | 419 |
| GALNT15 | OXNAD1 | Q96HP4 | 415 |
| GALNT15 | KTN1 | Q86UP2 | 396 |
| GALNT15 | BNC2 | Q6ZN30 | 383 |
| GALNT15 | GBP4 | Q96PP9 | 380 |
| GALNT15 | RFTN1 | Q14699 | 378 |
| GALNT15 | PTPN6 | P29350 | 364 |
| GALNT15 | MFAP5 | Q13361 | 360 |
| GALNT15 | PLCL2 | Q9UPR0 | 346 |
| GALNT15 | KIAA1755 | Q5JYT7 | 343 |
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GALNT15 | IL27RA | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | FCRL6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | SLC30A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | MR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | PDCD1LG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC7A1 | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | FNDC9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | CD200R1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDZK1IP1 | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FFAR2 | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD79A | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EVI2B | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | SYNPR | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL27RA | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FCRL6 | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | GOLM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | CISD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM179B | GALNT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GALNT15 | SPSB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GALNT15 | SLC30A2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | PDCD1LG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | SLC7A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | FNDC9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | CD200R1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | PDZK1IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | CD79A | psi-mi:“MI:0915”(physical association) | 0.000 |
| GALNT15 | EVI2B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): GALNT15 (Two-hybrid), GALNT15 (Two-hybrid), GALNT15 (Two-hybrid), GOLM1 (Two-hybrid), SLC7A1 (Two-hybrid), CISD2 (Two-hybrid), MR1 (Two-hybrid), SLC30A2 (Two-hybrid), PDZK1IP1 (Two-hybrid), CD200R1 (Two-hybrid), SYNPR (Two-hybrid), FNDC9 (Two-hybrid), FCRL6 (Two-hybrid), TMEM179B (Two-hybrid), EVI2B (Two-hybrid)
ESM2 similar proteins: O08644, O15197, O88178, O96024, O97507, P00748, P0C0K6, P0C0K7, P98140, Q02853, Q04962, Q08345, Q08BL3, Q0V8J4, Q13444, Q3USF0, Q3V1N9, Q499S5, Q5EA85, Q5JCS9, Q5RAL7, Q5TJE8, Q66H69, Q6MG64, Q6ZMB0, Q7T3S5, Q7TNJ2, Q7YR43, Q7Z7M1, Q7Z7M8, Q864U6, Q8BYG9, Q8IU80, Q8IZF5, Q8IZY2, Q8K0J2, Q8N3T1, Q8NFL0, Q8R3I9, Q91V24
Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
125 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 108 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5618 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:16175691:G:GG | donor_gain | 1.0000 |
| 3:16208491:A:AG | acceptor_gain | 1.0000 |
| 3:16208501:A:AG | acceptor_gain | 1.0000 |
| 3:16208502:G:GG | acceptor_gain | 1.0000 |
| 3:16208638:G:GT | donor_gain | 1.0000 |
| 3:16208668:CAGGT:C | donor_loss | 1.0000 |
| 3:16208669:AGGTG:A | donor_loss | 1.0000 |
| 3:16208671:G:GA | donor_loss | 1.0000 |
| 3:16208672:T:G | donor_loss | 1.0000 |
| 3:16211237:TCAAG:T | donor_loss | 1.0000 |
| 3:16211238:CAAG:C | donor_loss | 1.0000 |
| 3:16211239:AAG:A | donor_loss | 1.0000 |
| 3:16211242:GTAT:G | donor_loss | 1.0000 |
| 3:16219531:A:T | donor_gain | 1.0000 |
| 3:16222612:CAGT:C | acceptor_loss | 1.0000 |
| 3:16222613:A:AG | acceptor_gain | 1.0000 |
| 3:16222614:G:GT | acceptor_gain | 1.0000 |
| 3:16222614:GTA:G | acceptor_gain | 1.0000 |
| 3:16222614:GTAC:G | acceptor_gain | 1.0000 |
| 3:16222757:AGGT:A | donor_loss | 1.0000 |
| 3:16222759:G:A | donor_loss | 1.0000 |
| 3:16222760:T:A | donor_loss | 1.0000 |
| 3:16227352:A:AG | acceptor_gain | 1.0000 |
| 3:16227353:G:GG | acceptor_gain | 1.0000 |
| 3:16227353:GA:G | acceptor_gain | 1.0000 |
| 4:173168960:GG:G | donor_gain | 1.0000 |
| 4:173168961:GG:G | donor_gain | 1.0000 |
| 4:173212063:ACAT:A | acceptor_gain | 1.0000 |
| 4:173212064:C:G | acceptor_gain | 1.0000 |
| 4:173248436:GAAGA:G | donor_gain | 1.0000 |
AlphaMissense
4219 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:16227464:G:C | W628C | 0.993 |
| 3:16227464:G:T | W628C | 0.993 |
| 3:16195800:A:C | S194R | 0.989 |
| 3:16195802:C:A | S194R | 0.989 |
| 3:16195802:C:G | S194R | 0.989 |
| 3:16227462:T:A | W628R | 0.988 |
| 3:16227462:T:C | W628R | 0.988 |
| 3:16211125:A:C | S361R | 0.985 |
| 3:16211127:C:A | S361R | 0.985 |
| 3:16211127:C:G | S361R | 0.985 |
| 3:16222746:G:C | W587C | 0.981 |
| 3:16222746:G:T | W587C | 0.981 |
| 3:16227387:T:A | C603S | 0.978 |
| 3:16227388:G:C | C603S | 0.978 |
| 3:16200786:T:A | W292R | 0.968 |
| 3:16200786:T:C | W292R | 0.968 |
| 3:16222744:T:A | W587R | 0.966 |
| 3:16222744:T:C | W587R | 0.966 |
| 3:16227463:G:C | W628S | 0.962 |
| 3:16200732:G:C | A274P | 0.961 |
| 3:16212578:T:A | C403S | 0.961 |
| 3:16212579:G:C | C403S | 0.961 |
| 3:16195804:T:A | V195D | 0.960 |
| 3:16227387:T:C | C603R | 0.959 |
| 3:16212693:C:A | A441D | 0.958 |
| 3:16219454:T:A | C482S | 0.955 |
| 3:16219455:G:C | C482S | 0.955 |
| 3:16219918:C:A | N511K | 0.954 |
| 3:16219918:C:G | N511K | 0.954 |
| 3:16200733:C:A | A274D | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1000014322 (3:16177070 A>C), RS1000032740 (3:16183896 T>C), RS1000044103 (3:16202491 G>A), RS1000112428 (3:16190037 AT>A), RS1000180641 (3:16246558 G>A), RS1000227925 (3:16200649 T>C,G), RS1000249596 (3:16240937 C>T), RS1000270513 (3:16221835 G>C), RS1000344108 (3:16212361 T>C), RS1000401082 (3:16246330 T>G), RS1000433908 (3:16186471 T>C), RS1000458393 (3:16183458 G>A), RS1000486269 (3:16186017 GA>G), RS1000565214 (3:16201461 G>A,C), RS1000622938 (3:16228311 A>G)
Disease associations
OMIM: gene MIM:615131 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006291_53 | Spherical equivalent or myopia (age of diagnosis) | 3.000000e-11 |
| GCST009322_1 | Numerical cognitive ability | 9.000000e-06 |
| GCST010002_416 | Refractive error | 1.000000e-17 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004847 | age at onset |
| EFO:0008354 | cognitive function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases methylation | 3 |
| Rotenone | increases expression | 2 |
| daidzein | affects cotreatment, increases expression | 1 |
| lead acetate | decreases expression | 1 |
| daidzin | increases expression, affects cotreatment | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| genistin | affects cotreatment, increases expression | 1 |
| glycitein | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| glycitin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | affects response to substance | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Carmustine | affects response to substance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Oxygen | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | increases expression | 1 |
| Thiram | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): refractive error