PITPNA
gene geneOn this page
Also known as VIB1A
Summary
PITPNA (phosphatidylinositol transfer protein alpha, HGNC:9001) is a protein-coding gene on chromosome 17p13.3, encoding Phosphatidylinositol transfer protein alpha isoform (Q00169). Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes.
This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.
Source: NCBI Gene 5306 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 38 total
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_006224
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9001 |
| Approved symbol | PITPNA |
| Name | phosphatidylinositol transfer protein alpha |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | VIB1A |
| Ensembl gene | ENSG00000174238 |
| Ensembl biotype | protein_coding |
| OMIM | 600174 |
| Entrez | 5306 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000313486, ENST00000572004, ENST00000573056, ENST00000573231, ENST00000574991, ENST00000575288, ENST00000575895, ENST00000576010, ENST00000576722, ENST00000576761
RefSeq mRNA: 1 — MANE Select: NM_006224
NM_006224
CCDS: CCDS45563
Canonical transcript exons
ENST00000313486 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001198868 | 1562541 | 1562792 |
| ENSE00002671330 | 1517718 | 1520538 |
| ENSE00003480208 | 1548296 | 1548387 |
| ENSE00003494939 | 1558529 | 1558559 |
| ENSE00003516836 | 1535441 | 1535518 |
| ENSE00003551483 | 1538869 | 1538952 |
| ENSE00003575272 | 1521579 | 1521645 |
| ENSE00003640531 | 1534099 | 1534221 |
| ENSE00003652921 | 1541566 | 1541640 |
| ENSE00003669391 | 1553004 | 1553149 |
| ENSE00003787279 | 1535182 | 1535292 |
| ENSE00003789372 | 1543020 | 1543027 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 99.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.3918 / max 431.3695, expressed in 1821 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163735 | 50.3519 | 1821 |
| 163733 | 0.0161 | 3 |
| 163734 | 0.0122 | 3 |
| 163731 | 0.0074 | 2 |
| 163732 | 0.0041 | 1 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 99.69 | gold quality |
| retina | UBERON:0000966 | 99.66 | gold quality |
| parotid gland | UBERON:0001831 | 97.55 | gold quality |
| pons | UBERON:0000988 | 97.28 | gold quality |
| skin of leg | UBERON:0001511 | 96.51 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.26 | gold quality |
| monocyte | CL:0000576 | 96.21 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.19 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.98 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.91 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.90 | gold quality |
| mononuclear cell | CL:0000842 | 95.89 | gold quality |
| mouth mucosa | UBERON:0003729 | 95.88 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.84 | gold quality |
| leukocyte | CL:0000738 | 95.78 | gold quality |
| zone of skin | UBERON:0000014 | 95.75 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.69 | gold quality |
| gingiva | UBERON:0001828 | 95.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.39 | gold quality |
| rectum | UBERON:0001052 | 95.34 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.34 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.25 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.19 | gold quality |
| endothelial cell | CL:0000115 | 95.10 | gold quality |
| frontal cortex | UBERON:0001870 | 95.10 | gold quality |
| frontal lobe | UBERON:0016525 | 95.10 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.09 | gold quality |
| gall bladder | UBERON:0002110 | 95.06 | gold quality |
| upper arm skin | UBERON:0004263 | 94.95 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 15.40 |
| E-CURD-112 | yes | 3.83 |
| E-MTAB-8060 | no | 138.63 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TCF3
miRNA regulators (miRDB)
164 targeting PITPNA, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 6)
- the PITPalpha structure has to relax to allow access to the Ser166 site, and this may occur at the membrane surface where PI delivery is required for receptor-mediated PLC signaling (PMID:15322105)
- the apparent occurrence of an unusual TG 3’ splice site in intron 4 is discussed (PMID:17672918)
- This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
- Data show that phosphatidylinositol transfer protein alpha (PITPalpha) is involved in the function of mixed lineage kinase domain-like protein (MLKL) in necroptosis. (PMID:29104146)
- PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA. (PMID:33221436)
- Restoration of PITPNA in Type 2 diabetic human islets reverses pancreatic beta-cell dysfunction. (PMID:37460527)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pitpnaa | ENSDARG00000039490 |
| danio_rerio | pitpnab | ENSDARG00000044091 |
| mus_musculus | Pitpna | ENSMUSG00000017781 |
| rattus_norvegicus | Pitpna | ENSRNOG00000003846 |
| caenorhabditis_elegans | WBGENE00021854 |
Paralogs (5): PITPNM2 (ENSG00000090975), PITPNM3 (ENSG00000091622), PITPNM1 (ENSG00000110697), PITPNC1 (ENSG00000154217), PITPNB (ENSG00000180957)
Protein
Protein identifiers
Phosphatidylinositol transfer protein alpha isoform — Q00169 (reviewed: Q00169)
All UniProt accessions (10): Q00169, I3L2X8, I3L3W1, I3L459, I3L471, I3L4C0, I3L4H1, I3L4U7, I3NI10, V9HWC5
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes. Shows a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions. Preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3.
Subcellular location. Cytoplasm. Nucleus.
Activity regulation. Phosphatidylinositol transfer activity is inhibited by N-ethylmaleimide.
Similarity. Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
RefSeq proteins (1): NP_006215* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001666 | PI_transfer | Family |
| IPR023393 | START-like_dom_sf | Homologous_superfamily |
| IPR055261 | PI_transfer_N | Domain |
Pfam: PF02121
Catalyzed reactions (Rhea), 2 shown:
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out) (RHEA:38691)
UniProt features (46 total): helix 12, mutagenesis site 11, strand 8, binding site 6, turn 3, initiator methionine 1, chain 1, modified residue 1, region of interest 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9TA5 | X-RAY DIFFRACTION | 2.1 |
| 8PQO | X-RAY DIFFRACTION | 2.3 |
| 1UW5 | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00169-F1 | 95.51 | 0.91 |
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 (6): 58; 60; 85; 89; 96; 194
Post-translational modifications (1): 215
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 58 | reduced phosphatidylinositol and phosphatidylcholine transfer activity. |
| 58 | complete loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. |
| 58 | reduced phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. |
| 60 | complete loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. |
| 85 | reduced phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. |
| 85 | reduced phosphatidylinositol and phosphatidylcholine transfer activity. |
| 89 | significant loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. |
| 94 | no effect on phosphatidylinositol transfer activity. resistant to inhibition by n-ethylmaleimide. |
| 102 | reduced phosphatidylinositol and phosphatidylcholine transfer activity. |
| 187 | no effect on phosphatidylinositol transfer activity. |
| 202–203 | significant loss of phosphatidylinositol and phosphatidylcholine transfer activity. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-418890 | Role of second messengers in netrin-1 signaling |
| R-HSA-8950505 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
MSigDB gene sets: 224 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, MORF_MSH3, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, LFA1_Q6, PID_NETRIN_PATHWAY, GOBP_NEUROGENESIS, SP1_Q2_01, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GTGCCTT_MIR506, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, ATF3_Q6, GOBP_LIPID_METABOLIC_PROCESS
GO Biological Process (6): lipid metabolic process (GO:0006629), axonogenesis (GO:0007409), visual perception (GO:0007601), phospholipid transport (GO:0015914), lipid transport (GO:0006869), intermembrane lipid transfer (GO:0120009)
GO Molecular Function (10): lipid binding (GO:0008289), phosphatidylcholine intramembrane carrier activity (GO:0008525), phosphatidylinositol transfer activity (GO:0008526), phosphatidylcholine binding (GO:0031210), phosphatidylinositol binding (GO:0035091), phosphatidylcholine transfer activity (GO:0120019), phosphatidylglycerol binding (GO:1901611), protein binding (GO:0005515), obsolete phospholipid transporter activity (GO:0005548), quaternary ammonium group binding (GO:0050997)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Netrin-1 signaling | 1 |
| Interleukin-12 signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid transport | 2 |
| binding | 2 |
| phospholipid binding | 2 |
| anion binding | 2 |
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| sensory perception of light stimulus | 1 |
| organophosphate ester transport | 1 |
| transport | 1 |
| lipid localization | 1 |
| membrane organization | 1 |
| intramembrane lipid carrier activity | 1 |
| phosphatidylinositol binding | 1 |
| lipid transfer activity | 1 |
| cation binding | 1 |
| quaternary ammonium group binding | 1 |
| phosphatidylcholine binding | 1 |
| phospholipid transfer activity | 1 |
| small molecule binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1060 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PITPNA | YWHAE | P29360 | 893 |
| PITPNA | SCARF1 | Q14162 | 857 |
| PITPNA | BHLHA9 | Q7RTU4 | 834 |
| PITPNA | TRARG1 | Q8IXB3 | 811 |
| PITPNA | PAFAH1B1 | P43034 | 804 |
| PITPNA | CRK | P46108 | 764 |
| PITPNA | TIMM22 | Q9Y584 | 751 |
| PITPNA | HIC1 | Q14526 | 662 |
| PITPNA | NXF1 | Q9UBU9 | 591 |
| PITPNA | SERPINF1 | P36955 | 560 |
| PITPNA | MNT | Q99583 | 494 |
| PITPNA | CDIPT | O14735 | 428 |
| PITPNA | MYO18A | Q92614 | 427 |
| PITPNA | OSBP | P22059 | 426 |
| PITPNA | NTN1 | O95631 | 423 |
| PITPNA | PRPH2 | P23942 | 423 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | EVI5 | psi-mi:“MI:0914”(association) | 0.660 |
| CASP6 | PITPNA | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | PITPNA | psi-mi:“MI:0915”(physical association) | 0.560 |
| PITPNA | UQCRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GLB1 | PITPNA | psi-mi:“MI:0915”(physical association) | 0.560 |
| SIRT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CSNK2B | PITPNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| Dync1li1 | SSR3 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdc26 | psi-mi:“MI:0914”(association) | 0.350 | |
| S1PR4 | PITPNA | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| LHCGR | FURIN | psi-mi:“MI:0914”(association) | 0.350 |
| PITPNB | PITPNA | psi-mi:“MI:0914”(association) | 0.350 |
| SSUH2 | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| PITPNB | PRKCA | psi-mi:“MI:0914”(association) | 0.350 |
| HSDL1 | HBB | psi-mi:“MI:0914”(association) | 0.350 |
| DND1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): PITPNA (Co-fractionation), PITPNA (Co-fractionation), PITPNA (Co-fractionation), PITPNA (Co-fractionation), PITPNA (Co-fractionation), PITPNA (Co-fractionation), PITPNA (Co-fractionation), UBE2L3 (Co-fractionation), PITPNA (Affinity Capture-MS), PITPNA (Affinity Capture-MS), PITPNA (Affinity Capture-MS), PITPNA (Affinity Capture-MS), PMVK (Affinity Capture-MS), MORF4L2 (Affinity Capture-MS), MLKL (Affinity Capture-MS)
ESM2 similar proteins: A8K855, O95299, P0CB89, P0CB90, P11881, P16446, P19824, P29994, P29995, P34942, P48603, P48738, P48739, P53810, P53811, P53812, P60670, P70227, Q00169, Q0E908, Q0MQB6, Q0MQB7, Q14571, Q14573, Q14643, Q14849, Q2HJ54, Q4G005, Q54VC7, Q5BJI9, Q5M7Y0, Q5R6F0, Q63269, Q6IQC7, Q6NRZ4, Q6P3Q6, Q7K556, Q8H1S0, Q8TAT6, Q8WN95
Diamond homologs: G5EEM9, O00562, O35954, O46606, P16446, P43125, P48738, P48739, P53810, P53811, P53812, Q00169, Q28CA0, Q2HJ54, Q3UHE1, Q54D93, Q54VC7, Q5R6F0, Q5U2N3, Q6NZC7, Q6ZPQ6, Q80YA3, Q8K4R4, Q8NEL9, Q8W5R2, Q9BZ71, Q9BZ72, Q9NCL7, Q9NCL8, Q9TR36, Q9U9P7, Q9UKF7, Q12204
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1977 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:1534093:ACTT:A | donor_loss | 1.0000 |
| 17:1534095:TTA:T | donor_loss | 1.0000 |
| 17:1534096:TACTT:T | donor_loss | 1.0000 |
| 17:1534097:A:AC | donor_gain | 1.0000 |
| 17:1534097:A:T | donor_loss | 1.0000 |
| 17:1534097:ACTT:A | donor_gain | 1.0000 |
| 17:1534098:C:CG | donor_gain | 1.0000 |
| 17:1534098:CT:C | donor_gain | 1.0000 |
| 17:1534098:CTT:C | donor_gain | 1.0000 |
| 17:1534098:CTTC:C | donor_gain | 1.0000 |
| 17:1534098:CTTCA:C | donor_gain | 1.0000 |
| 17:1534100:T:TA | donor_gain | 1.0000 |
| 17:1534218:CTTG:C | acceptor_gain | 1.0000 |
| 17:1534219:TTG:T | acceptor_gain | 1.0000 |
| 17:1534220:TG:T | acceptor_gain | 1.0000 |
| 17:1534222:C:CC | acceptor_gain | 1.0000 |
| 17:1534224:A:C | acceptor_gain | 1.0000 |
| 17:1535177:CTTA:C | donor_loss | 1.0000 |
| 17:1535178:TTAC:T | donor_loss | 1.0000 |
| 17:1535179:TA:T | donor_loss | 1.0000 |
| 17:1535180:A:AC | donor_gain | 1.0000 |
| 17:1535180:AC:A | donor_gain | 1.0000 |
| 17:1535180:ACC:A | donor_loss | 1.0000 |
| 17:1535181:C:CA | donor_gain | 1.0000 |
| 17:1535181:CC:C | donor_gain | 1.0000 |
| 17:1535181:CCT:C | donor_gain | 1.0000 |
| 17:1535181:CCTT:C | donor_gain | 1.0000 |
| 17:1535181:CCTTA:C | donor_gain | 1.0000 |
| 17:1535289:CTTG:C | acceptor_gain | 1.0000 |
| 17:1535298:T:TC | acceptor_gain | 1.0000 |
AlphaMissense
1797 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:1534136:C:G | R244P | 1.000 |
| 17:1534164:A:G | W235R | 1.000 |
| 17:1534164:A:T | W235R | 1.000 |
| 17:1535227:G:C | F200L | 1.000 |
| 17:1535227:G:T | F200L | 1.000 |
| 17:1535229:A:G | F200L | 1.000 |
| 17:1535245:T:A | K194N | 1.000 |
| 17:1535245:T:G | K194N | 1.000 |
| 17:1541595:G:C | H115D | 1.000 |
| 17:1548303:G:C | C94W | 1.000 |
| 17:1548318:A:C | N89K | 1.000 |
| 17:1548318:A:T | N89K | 1.000 |
| 17:1548323:A:G | W88R | 1.000 |
| 17:1548323:A:T | W88R | 1.000 |
| 17:1548330:C:A | E85D | 1.000 |
| 17:1548330:C:G | E85D | 1.000 |
| 17:1548370:A:T | V72D | 1.000 |
| 17:1553021:C:A | K60N | 1.000 |
| 17:1553021:C:G | K60N | 1.000 |
| 17:1553023:T:C | K60E | 1.000 |
| 17:1553086:C:G | G39R | 1.000 |
| 17:1553116:C:G | A29P | 1.000 |
| 17:1553133:A:G | L23P | 1.000 |
| 17:1553133:A:T | L23Q | 1.000 |
| 17:1553139:C:T | G21E | 1.000 |
| 17:1534106:A:G | L254P | 0.999 |
| 17:1534126:T:A | E247D | 0.999 |
| 17:1534126:T:G | E247D | 0.999 |
| 17:1534127:T:A | E247V | 0.999 |
| 17:1534139:A:T | I243N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000015190 (17:1528241 A>G), RS1000032744 (17:1534763 T>C), RS1000101300 (17:1535769 G>A), RS1000104661 (17:1524334 G>A,T), RS1000195913 (17:1547666 T>A,C), RS1000226387 (17:1544613 G>A), RS1000267913 (17:1560113 G>A), RS1000478608 (17:1544736 G>A,C), RS1000487794 (17:1534352 G>A,T), RS1000515763 (17:1538103 A>G), RS1000604571 (17:1563484 T>A), RS1000651828 (17:1537838 T>A), RS1000677254 (17:1543825 A>T), RS1000797504 (17:1549366 G>T), RS1000815201 (17:1534046 T>C)
Disease associations
OMIM: gene MIM:600174 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003830_2 | Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) | 5.000000e-09 |
| GCST009391_104 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005921 | FEV change measurement |
| EFO:0009767 | glycine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 5 |
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Rotenone | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| dicrotophos | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propylparaben | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | 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.