GDPD3
gene geneOn this page
Also known as MGC4171
Summary
GDPD3 (glycerophosphodiester phosphodiesterase domain containing 3, HGNC:28638) is a protein-coding gene on chromosome 16p11.2, encoding Lysophospholipase D GDPD3 (Q7L5L3). Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines.
Enables phosphoric diester hydrolase activity. Involved in N-acylethanolamine metabolic process. Located in endoplasmic reticulum.
Source: NCBI Gene 79153 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 61 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_024307
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28638 |
| Approved symbol | GDPD3 |
| Name | glycerophosphodiester phosphodiesterase domain containing 3 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC4171 |
| Ensembl gene | ENSG00000102886 |
| Ensembl biotype | protein_coding |
| OMIM | 616318 |
| Entrez | 79153 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000360688, ENST00000406256, ENST00000565704, ENST00000566434, ENST00000566613
RefSeq mRNA: 1 — MANE Select: NM_024307
NM_024307
CCDS: CCDS10671
Canonical transcript exons
ENST00000406256 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001349671 | 30112658 | 30112793 |
| ENSE00001520938 | 30113022 | 30113064 |
| ENSE00001692171 | 30113340 | 30113537 |
| ENSE00003481279 | 30104810 | 30105009 |
| ENSE00003499059 | 30111388 | 30111521 |
| ENSE00003532031 | 30108213 | 30108264 |
| ENSE00003586518 | 30112132 | 30112221 |
| ENSE00003587416 | 30112306 | 30112424 |
| ENSE00003587650 | 30108373 | 30108432 |
| ENSE00003679567 | 30112523 | 30112568 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 97.67.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3244 / max 102.2041, expressed in 238 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157022 | 1.3244 | 238 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 97.67 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.55 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.37 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.48 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 92.20 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.18 | gold quality |
| oral cavity | UBERON:0000167 | 89.93 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.92 | gold quality |
| transverse colon | UBERON:0001157 | 89.90 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.53 | gold quality |
| squamous epithelium | UBERON:0006914 | 89.02 | gold quality |
| vagina | UBERON:0000996 | 88.93 | gold quality |
| ectocervix | UBERON:0012249 | 87.84 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.83 | gold quality |
| esophagus | UBERON:0001043 | 87.74 | gold quality |
| granulocyte | CL:0000094 | 87.17 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 86.28 | gold quality |
| skin of leg | UBERON:0001511 | 86.12 | gold quality |
| rectum | UBERON:0001052 | 86.00 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.88 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 85.75 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 85.64 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.38 | gold quality |
| right coronary artery | UBERON:0001625 | 85.34 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.26 | gold quality |
| colon | UBERON:0001155 | 85.14 | gold quality |
| gingiva | UBERON:0001828 | 85.05 | gold quality |
| large intestine | UBERON:0000059 | 85.02 | gold quality |
| body of uterus | UBERON:0009853 | 84.85 | gold quality |
| right uterine tube | UBERON:0001302 | 84.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.53 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- Human GDPD3 overexpression promotes liver steatosis by increasing lysophosphatidic acid production and fatty acid uptake. (PMID:32430316)
- Development of a selective fluorescence-based enzyme assay for glycerophosphodiesterase family members GDE4 and GDE7. (PMID:34673020)
- GDE7 produces cyclic phosphatidic acid in the ER lumen functioning as a lysophospholipid mediator. (PMID:37193762)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gdpd3b | ENSDARG00000006944 |
| danio_rerio | gdpd3a | ENSDARG00000074466 |
| mus_musculus | Gdpd3 | ENSMUSG00000030703 |
| rattus_norvegicus | Gdpd3 | ENSRNOG00000019685 |
Paralogs (5): GDE1 (ENSG00000006007), GDPD2 (ENSG00000130055), GDPD1 (ENSG00000153982), GDPD5 (ENSG00000158555), GDPD4 (ENSG00000178795)
Protein
Protein identifiers
Lysophospholipase D GDPD3 — Q7L5L3 (reviewed: Q7L5L3)
Alternative names: Glycerophosphodiester phosphodiesterase 7, Glycerophosphodiester phosphodiesterase domain-containing protein 3
All UniProt accessions (3): Q7L5L3, H3BMN9, H3BPX3
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylcholine (lyso-PC) and N-acylethanolamine lysophospholipids. Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine.
Subcellular location. Membrane. Cytoplasm. Perinuclear region. Endoplasmic reticulum.
Tissue specificity. Widely expressed, with high level in kidney and ovary.
Activity regulation. Lysophospholipase D activity is stimulated by calcium. Loss of lysophospholipase D activity in presence of EDTA.
Similarity. Belongs to the glycerophosphoryl diester phosphodiesterase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7L5L3-2 | 1 | yes |
| Q7L5L3-1 | 2 |
RefSeq proteins (1): NP_077283* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR017946 | PLC-like_Pdiesterase_TIM-brl | Homologous_superfamily |
| IPR030395 | GP_PDE_dom | Domain |
| IPR052271 | GDPD-Related | Family |
Pfam: PF03009
Enzyme classification (BRENDA):
- EC 3.1.4.39 — alkylglycerophosphoethanolamine phosphodiesterase (BRENDA: 14 organisms, 123 substrates, 265 inhibitors, 67 Km, 27 kcat entries)
Substrate kinetics (BRENDA)
32 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| LYSOPHOSPHATIDYLCHOLINE | 0.094–1 | 8 |
| FS-3 | 0.0026–0.019 | 4 |
| LYSOPHOSPHATIDYLCHOLINE 16:0 | 0.066–0.126 | 4 |
| LYSOPHOSPHATIDYLCHOLINE 18:1 | 0.069–0.126 | 4 |
| 4-NITROPHENYL-TMP | 0.7–5.6 | 3 |
| LYSOPHOSPHATIDYLCHOLINE 18:0 | 0.089–0.27 | 3 |
| 1-LAUROYL-2-HYDROXY-SN-GLYCERO-3-PHOSPHOCHOLINE | 1.9–2.3 | 2 |
| 1-LINOLEOYL-2-HYDROXY-SN-GLYCERO-SN-3-PHOSPHOCHO | 0.84–2.4 | 2 |
| 1-MYRISTOYL-2-HYDROXY-SN-GLYCERO-3-PHOSPHOCHOLIN | 0.25–0.7 | 2 |
| 1-O-1’-(Z)-OCTADECENYL-2-HYDROXY-SN-GLYCERO-3-PH | 0.22–1.3 | 2 |
| 1-O-OCTADECYL-2-HYDROXY-SN-GLYCERO-3-PHOSPHOCHOL | 0.16–0.31 | 2 |
| 1-OLEOYL-2-HYDROXY-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.28–0.56 | 2 |
| 1-PALMITOYL-2-HYDROXY-SN-GLYCERO-3-PHOSPHOCHOLIN | 0.13–0.43 | 2 |
| 1-STEAROYL-2-HYDROXY-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.2–0.3 | 2 |
| 1-ALKYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.097 | 1 |
Catalyzed reactions (Rhea), 7 shown:
- 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphate + choline + H(+) (RHEA:38975)
- 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40435)
- 1-O-hexadecyl-sn-glycero-3-phosphocholine + H2O = 1-O-hexadecyl-sn-glycero-3-phosphate + choline + H(+) (RHEA:41143)
- N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) (RHEA:45544)
- N-hexadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-hexadecanoylethanolamine + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) (RHEA:53168)
- 1-O-(1Z-octadecenyl)-sn-glycero-3-phospho-N-hexadecanoyl-ethanolamine + H2O = 1-O-(1Z-octadecenyl)-sn-glycero-3-phosphate + N-hexadecanoylethanolamine + H(+) (RHEA:53184)
- N,1-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = N-(9Z-octadecenoyl) ethanolamine + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) (RHEA:56460)
UniProt features (11 total): topological domain 3, binding site 3, transmembrane region 2, chain 1, splice variant 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L5L3-F1 | 92.42 | 0.81 |
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 (3): 71; 73; 86
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6814848 | Glycerophospholipid catabolism |
MSigDB gene sets: 152 (showing top):
ELVIDGE_HYPOXIA_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, SASAI_TARGETS_OF_CXCR6_AND_PTCH1_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, GGGTGGRR_PAX4_03, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, chr16p11, HFH8_01, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS
GO Biological Process (5): phosphatidylcholine catabolic process (GO:0034638), glycerophospholipid catabolic process (GO:0046475), N-acylethanolamine metabolic process (GO:0070291), lipid metabolic process (GO:0006629), phospholipid metabolic process (GO:0006644)
GO Molecular Function (4): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), phosphoric diester hydrolase activity (GO:0008081), metal ion binding (GO:0046872), hydrolase activity (GO:0016787)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| PI Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| phosphatidylcholine metabolic process | 1 |
| glycerophospholipid catabolic process | 1 |
| glycerophospholipid metabolic process | 1 |
| phospholipid catabolic process | 1 |
| glycerolipid catabolic process | 1 |
| primary alcohol metabolic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| organophosphate metabolic process | 1 |
| lysophospholipase A1 activity | 1 |
| phosphoric ester hydrolase activity | 1 |
| cation binding | 1 |
| catalytic 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 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GDPD3 | ENPP2 | Q13822 | 988 |
| GDPD3 | ENPP3 | O14638 | 921 |
| GDPD3 | ENPP1 | P22413 | 822 |
| GDPD3 | LPAR1 | P78351 | 750 |
| GDPD3 | LPAR2 | Q9HBW0 | 695 |
| GDPD3 | LPAR6 | P43657 | 691 |
| GDPD3 | LPAR3 | Q9UBY5 | 664 |
| GDPD3 | LPAR4 | Q99677 | 652 |
| GDPD3 | YPEL3 | P61236 | 617 |
| GDPD3 | LPAR5 | Q9H1C0 | 602 |
| GDPD3 | HIRIP3 | Q9BW71 | 591 |
| GDPD3 | ASPHD1 | Q5U4P2 | 572 |
| GDPD3 | POU2F3 | Q9UKI9 | 571 |
| GDPD3 | NAPEPLD | Q6IQ20 | 528 |
| GDPD3 | KCTD13 | Q8WZ19 | 517 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANXA9 | PPL | psi-mi:“MI:0914”(association) | 0.660 |
| PCGF6 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| NPPA | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAAF19 | KLK10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZIC1 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| AIRE | ALOX12B | psi-mi:“MI:0914”(association) | 0.530 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK3 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| MAP3K6 | TGM1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKAG1 | TGM1 | psi-mi:“MI:0914”(association) | 0.350 |
| FASTK | TGM1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDKL3 | psi-mi:“MI:0914”(association) | 0.350 | |
| STX17 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PI4KAP1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ST6GALNAC6 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| GABPA | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPPLY3 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MBD4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ST7 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTDSS1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ERCC3 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| SH2D3A | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PINK1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCP4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| UPK1A | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| SARAF | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| NT5C1A | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZC3HC1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (43): GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), GDPD3 (Affinity Capture-MS)
ESM2 similar proteins: A0A193KX02, A0A397HK53, A1Y9I9, A4IG53, A5WWC6, B6CZ46, B6CZ56, B6CZ62, B8NR70, L0TAD5, O42898, P37059, P55205, P58781, P86243, Q0IIS3, Q0P464, Q28C60, Q28DI5, Q2KHV5, Q2VQV9, Q32LS6, Q3V1F8, Q4V339, Q5JTY5, Q5RIA9, Q5XI69, Q5XI79, Q66KL0, Q68EZ3, Q6DCK1, Q6GQ37, Q6PE54, Q6Q2C2, Q6TL19, Q7L592, Q7L5L3, Q8IUF1, Q8IX18, Q8NKC1
Diamond homologs: A0A8F4N283, O07592, O30405, P09394, P37965, P47535, P54527, P75367, P9WLF0, P9WLF1, Q06282, Q08959, Q3T0T0, Q3TT99, Q640M6, Q6W3E5, Q7L5L3, Q8RB32, Q95JR7, Q99LY2, Q9C907, Q9ESM6, Q9HCC8, Q9JL56, Q9NZC3, Q9SD81, O14169, P10908, P9WMU2, P9WMU3, Q8N9F7, Q8WTR4, Q9CRY7, Q9JL55, P47625, Q3KTM2, Q0VGK4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 44 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 983192 | GRCh37/hg19 16p11.2(chr16:29592797-30190593)x3 | Pathogenic |
| 523255 | GRCh37/hg19 16p11.2(chr16:29656684-30197341) | Likely pathogenic |
SpliceAI
1529 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:30111382:TGGTA:T | donor_loss | 1.0000 |
| 16:30111383:GGTAC:G | donor_loss | 1.0000 |
| 16:30111384:GTAC:G | donor_loss | 1.0000 |
| 16:30111385:TACCT:T | donor_loss | 1.0000 |
| 16:30111386:ACCTG:A | donor_loss | 1.0000 |
| 16:30111425:T:TA | donor_gain | 1.0000 |
| 16:30111517:GGGTT:G | acceptor_gain | 1.0000 |
| 16:30111518:GGTT:G | acceptor_gain | 1.0000 |
| 16:30111519:GTT:G | acceptor_gain | 1.0000 |
| 16:30111520:TT:T | acceptor_gain | 1.0000 |
| 16:30111520:TTCTG:T | acceptor_loss | 1.0000 |
| 16:30111521:TC:T | acceptor_loss | 1.0000 |
| 16:30111522:C:CA | acceptor_loss | 1.0000 |
| 16:30111522:C:CC | acceptor_gain | 1.0000 |
| 16:30111523:T:A | acceptor_loss | 1.0000 |
| 16:30112130:A:AC | donor_gain | 1.0000 |
| 16:30112130:ACGG:A | donor_gain | 1.0000 |
| 16:30112131:C:CA | donor_gain | 1.0000 |
| 16:30112131:CGG:C | donor_gain | 1.0000 |
| 16:30112131:CGGC:C | donor_gain | 1.0000 |
| 16:30112131:CGGCA:C | donor_gain | 1.0000 |
| 16:30112149:TCATG:T | donor_gain | 1.0000 |
| 16:30112218:CTAT:C | acceptor_gain | 1.0000 |
| 16:30112309:A:AC | donor_gain | 1.0000 |
| 16:30112310:C:CC | donor_gain | 1.0000 |
| 16:30112329:T:TA | donor_gain | 1.0000 |
| 16:30112330:C:A | donor_gain | 1.0000 |
| 16:30112517:TCTCA:T | donor_loss | 1.0000 |
| 16:30112518:CTCAC:C | donor_loss | 1.0000 |
| 16:30112519:TCACC:T | donor_loss | 1.0000 |
AlphaMissense
2067 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:30112176:A:G | W177R | 0.986 |
| 16:30112176:A:T | W177R | 0.986 |
| 16:30113345:C:G | R45P | 0.979 |
| 16:30104936:G:T | T298K | 0.978 |
| 16:30108223:C:G | R270P | 0.978 |
| 16:30112193:C:G | R171P | 0.977 |
| 16:30113046:T:A | E53V | 0.973 |
| 16:30113349:G:C | H44D | 0.970 |
| 16:30112194:G:T | R171S | 0.969 |
| 16:30112754:A:C | C74W | 0.968 |
| 16:30112756:A:G | C74R | 0.968 |
| 16:30104934:C:G | D299H | 0.967 |
| 16:30104942:A:T | V296D | 0.967 |
| 16:30112530:G:C | F119L | 0.965 |
| 16:30112530:G:T | F119L | 0.965 |
| 16:30112532:A:G | F119L | 0.965 |
| 16:30104932:A:C | D299E | 0.962 |
| 16:30104932:A:T | D299E | 0.962 |
| 16:30104936:G:C | T298R | 0.962 |
| 16:30112143:A:G | C188R | 0.962 |
| 16:30112723:A:G | S85P | 0.962 |
| 16:30104933:T:A | D299V | 0.960 |
| 16:30104966:G:T | A288D | 0.960 |
| 16:30113040:G:A | T55I | 0.960 |
| 16:30112746:G:A | T77I | 0.959 |
| 16:30112702:G:T | R92S | 0.956 |
| 16:30112333:T:A | K152N | 0.955 |
| 16:30112333:T:G | K152N | 0.955 |
| 16:30112716:T:A | D87V | 0.955 |
| 16:30104933:T:G | D299A | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1000228969 (16:30107161 C>T), RS1000632261 (16:30111910 G>A), RS1000703831 (16:30110378 C>A), RS1000737377 (16:30111692 G>A,C), RS1001796639 (16:30111077 T>C), RS1002003921 (16:30105991 A>G), RS1002248461 (16:30112198 A>G), RS1002521758 (16:30105794 C>T), RS1002689126 (16:30108832 A>T), RS1002848580 (16:30113546 A>G), RS1003316506 (16:30109581 T>C,G), RS1003532842 (16:30104475 G>A), RS1003998795 (16:30113964 T>G), RS1004294823 (16:30114227 G>A), RS1004683414 (16:30114078 G>A,T)
Disease associations
OMIM: gene MIM:616318 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (1): Non-syndromic bicoronal craniosynostosis (Orphanet:35099)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_82 | Schizophrenia | 5.000000e-11 |
| GCST004521_236 | Autism spectrum disorder or schizophrenia | 4.000000e-10 |
| GCST006803_23 | Schizophrenia | 6.000000e-13 |
| GCST007293_15 | Body fat distribution (arm fat ratio) | 6.000000e-06 |
| GCST007293_81 | Body fat distribution (arm fat ratio) | 4.000000e-08 |
| GCST010703_269 | Brain morphology (MOSTest) | 4.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression | 4 |
| Amitriptyline | increases expression | 3 |
| Tamoxifen | increases expression | 3 |
| Amiodarone | increases expression | 2 |
| trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride | increases expression | 2 |
| Chlorpromazine | increases expression | 2 |
| Clozapine | increases expression | 2 |
| Fluoxetine | increases expression | 2 |
| Imipramine | increases expression | 2 |
| Ketoconazole | increases expression | 2 |
| Perhexiline | increases expression | 2 |
| Smoke | decreases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Sertraline | increases expression | 2 |
| Particulate Matter | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| OTX015 | decreases expression | 1 |
| mivebresib | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| testosterone undecanoate | increases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| hydroquinone | increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| chlorcyclizine | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol S | 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.