PITPNB
gene geneOn this page
Also known as VIB1B
Summary
PITPNB (phosphatidylinositol transfer protein beta, HGNC:9002) is a protein-coding gene on chromosome 22q12.1, encoding Phosphatidylinositol transfer protein beta isoform (P48739). Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes.
This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 23760 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 28 total
- Druggable target: yes
- MANE Select transcript:
NM_012399
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9002 |
| Approved symbol | PITPNB |
| Name | phosphatidylinositol transfer protein beta |
| Location | 22q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | VIB1B |
| Ensembl gene | ENSG00000180957 |
| Ensembl biotype | protein_coding |
| OMIM | 606876 |
| Entrez | 23760 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 5 retained_intron
ENST00000320996, ENST00000335272, ENST00000415296, ENST00000436663, ENST00000460566, ENST00000465179, ENST00000471825, ENST00000477861, ENST00000493007, ENST00000634017
RefSeq mRNA: 3 — MANE Select: NM_012399
NM_001284277, NM_001284278, NM_012399
CCDS: CCDS13842, CCDS63432, CCDS63433
Canonical transcript exons
ENST00000335272 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001344136 | 27919172 | 27919256 |
| ENSE00001650357 | 27854854 | 27854939 |
| ENSE00001883424 | 27851669 | 27853663 |
| ENSE00003532048 | 27914317 | 27914347 |
| ENSE00003573097 | 27897801 | 27897892 |
| ENSE00003604936 | 27860131 | 27860241 |
| ENSE00003612427 | 27897130 | 27897137 |
| ENSE00003613456 | 27910964 | 27911109 |
| ENSE00003623733 | 27873738 | 27873815 |
| ENSE00003634112 | 27896552 | 27896626 |
| ENSE00003685652 | 27858387 | 27858509 |
| ENSE00003693284 | 27894555 | 27894638 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.6455 / max 953.6721, expressed in 1818 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193477 | 48.3401 | 1818 |
| 193478 | 0.3054 | 151 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 98.72 | gold quality |
| secondary oocyte | CL:0000655 | 98.19 | gold quality |
| gingiva | UBERON:0001828 | 98.18 | gold quality |
| endothelial cell | CL:0000115 | 98.02 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.93 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.67 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.61 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.42 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.36 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.34 | gold quality |
| hair follicle | UBERON:0002073 | 97.16 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.15 | gold quality |
| parietal pleura | UBERON:0002400 | 96.93 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.92 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.89 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.88 | gold quality |
| pleura | UBERON:0000977 | 96.85 | gold quality |
| popliteal artery | UBERON:0002250 | 96.82 | gold quality |
| saphenous vein | UBERON:0007318 | 96.81 | gold quality |
| tibial artery | UBERON:0007610 | 96.81 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.75 | gold quality |
| visceral pleura | UBERON:0002401 | 96.74 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.63 | gold quality |
| blood vessel layer | UBERON:0004797 | 96.63 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.53 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.45 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 96.41 | gold quality |
| aorta | UBERON:0000947 | 96.30 | gold quality |
| oral cavity | UBERON:0000167 | 96.26 | gold quality |
| tibia | UBERON:0000979 | 96.25 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | no | 3.47 |
| E-HCAD-5 | no | 2.20 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1
miRNA regulators (miRDB)
115 targeting PITPNB, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
Literature-anchored findings (GeneRIF, showing 3)
- Role of PITPNB- not required for sphingomyelin trafficking (PMID:12023904)
- The presence of PITPbeta splice variants adds an extra level of proteome complexity (PMID:16780419)
- Phosphatidylinositol and phosphatidylcholine exchange activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum. (PMID:20332109)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pitpnb | ENSDARG00000036005 |
| mus_musculus | Pitpnb | ENSMUSG00000050017 |
| rattus_norvegicus | Pitpnb | ENSRNOG00000000665 |
Paralogs (5): PITPNM2 (ENSG00000090975), PITPNM3 (ENSG00000091622), PITPNM1 (ENSG00000110697), PITPNC1 (ENSG00000154217), PITPNA (ENSG00000174238)
Protein
Protein identifiers
Phosphatidylinositol transfer protein beta isoform — P48739 (reviewed: P48739)
All UniProt accessions (3): B3KYB6, B3KYB7, P48739
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. Also catalyzes the transfer of sphingomyelin. Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function.
Subcellular location. Golgi apparatus. Golgi apparatus membrane. Endoplasmic reticulum membrane.
Tissue specificity. Widely expressed in various tissues including brain.
Post-translational modifications. Constitutive phosphorylation of Ser-262 has no effect on phospholipid transfer activity but is required for Golgi targeting.
Activity regulation. Phosphatidylinositol transfer activity is inhibited by N-ethylmaleimide.
Similarity. Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P48739-1 | 1 | yes |
| P48739-2 | 2 | |
| P48739-3 | 3 |
RefSeq proteins (3): NP_001271206, NP_001271207, NP_036531* (*=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), 3 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)
- an N-(acyl)-sphingosylphosphocholine(in) = an N-(acyl)-sphingosylphosphocholine(out) (RHEA:43776)
UniProt features (10 total): mutagenesis site 5, modified residue 2, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P48739-F1 | 95.59 | 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.
Post-translational modifications (2): 215, 262
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 60 | loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. fails to rescue t |
| 89 | loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. fails to rescue t |
| 94 | loss of phosphatidylcholine transfer activity but no effect on phosphatidylinositol transfer activity. not inhibited by |
| 187 | no effect on phosphatidylinositol transfer activity. |
| 202–203 | loss of phosphatidylinositol transfer activity. fails to rescue the retrograde transport defect from the golgi to endopl |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1483196 | PI and PC transport between ER and Golgi membranes |
MSigDB gene sets: 214 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, MORF_PSMC2, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, MODULE_66, MARTINEZ_RB1_TARGETS_UP, GOBP_NUCLEUS_ORGANIZATION, GENTILE_UV_HIGH_DOSE_DN, GENTILE_UV_RESPONSE_CLUSTER_D5, BYSTROEM_CORRELATED_WITH_IL5_DN, GOBP_LIPID_METABOLIC_PROCESS, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP
GO Biological Process (6): lipid metabolic process (GO:0006629), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), nucleus organization (GO:0006997), phospholipid transport (GO:0015914), lipid transport (GO:0006869), intermembrane lipid transfer (GO:0120009)
GO Molecular Function (10): phosphatidylcholine intramembrane carrier activity (GO:0008525), phosphatidylinositol transfer activity (GO:0008526), phosphatidylcholine binding (GO:0031210), phosphatidylinositol binding (GO:0035091), phosphatidylcholine transfer activity (GO:0120019), sphingomyelin transfer activity (GO:0140338), protein binding (GO:0005515), obsolete phospholipid transporter activity (GO:0005548), lipid binding (GO:0008289), quaternary ammonium group binding (GO:0050997)
GO Cellular Component (6): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
| PI Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid transport | 2 |
| phospholipid transfer activity | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| primary metabolic process | 1 |
| Golgi vesicle transport | 1 |
| organelle organization | 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 |
| phospholipid binding | 1 |
| cation binding | 1 |
| quaternary ammonium group binding | 1 |
| anion binding | 1 |
| phosphatidylcholine binding | 1 |
| sphingolipid transfer activity | 1 |
| small molecule binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| intracellular anatomical structure | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
1116 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PITPNB | OSBP | P22059 | 521 |
| PITPNB | UAP1L1 | Q3KQV9 | 458 |
| PITPNB | CERT1 | Q9Y5P4 | 454 |
| PITPNB | SLC35F6 | Q8N357 | 452 |
| PITPNB | PI4KB | P78405 | 429 |
| PITPNB | ESD | P10768 | 425 |
| PITPNB | FAF2 | Q96CS3 | 424 |
| PITPNB | VAPA | Q9P0L0 | 422 |
| PITPNB | FBXO6 | Q9NRD1 | 418 |
| PITPNB | TTC28 | Q96AY4 | 418 |
| PITPNB | PDXK | O00764 | 410 |
| PITPNB | UBQLN4 | Q9NRR5 | 401 |
| PITPNB | PCTP | Q9UKL6 | 398 |
| PITPNB | TAMM41 | Q96BW9 | 391 |
| PITPNB | PLEKHA3 | Q9HB20 | 390 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HRAS | RGL2 | psi-mi:“MI:0914”(association) | 0.660 |
| CASP6 | PITPNB | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | PITPNB | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GLB1 | PITPNB | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | PITPNB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| PITPNB | LMO4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DNAJC11 | psi-mi:“MI:0914”(association) | 0.350 | |
| DLD | NFKBIE | psi-mi:“MI:0914”(association) | 0.350 |
| HSD17B10 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| SOD1 | NPEPPSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SDCBP | psi-mi:“MI:0914”(association) | 0.350 | |
| AGPS | psi-mi:“MI:0914”(association) | 0.350 | |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PITPNB | PITPNA | psi-mi:“MI:0914”(association) | 0.350 |
| PITPNB | PRKCA | psi-mi:“MI:0914”(association) | 0.350 |
| MTCH2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC44A5 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (61): PITPNB (Affinity Capture-RNA), PITPNB (Affinity Capture-RNA), PITPNB (Affinity Capture-RNA), PITPNB (Affinity Capture-MS), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation), PITPNB (Co-fractionation)
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
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2388 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:27858381:TCTTA:T | donor_loss | 1.0000 |
| 22:27858382:CTTA:C | donor_loss | 1.0000 |
| 22:27858383:TTACT:T | donor_loss | 1.0000 |
| 22:27858384:TACTG:T | donor_loss | 1.0000 |
| 22:27858385:A:AC | donor_gain | 1.0000 |
| 22:27858385:AC:A | donor_loss | 1.0000 |
| 22:27858386:C:CT | donor_gain | 1.0000 |
| 22:27858386:CT:C | donor_gain | 1.0000 |
| 22:27858386:CTG:C | donor_gain | 1.0000 |
| 22:27858386:CTGT:C | donor_gain | 1.0000 |
| 22:27858386:CTGTT:C | donor_gain | 1.0000 |
| 22:27858506:CTTG:C | acceptor_gain | 1.0000 |
| 22:27858507:TTG:T | acceptor_gain | 1.0000 |
| 22:27858510:C:CC | acceptor_gain | 1.0000 |
| 22:27858511:T:C | acceptor_gain | 1.0000 |
| 22:27858511:T:TC | acceptor_gain | 1.0000 |
| 22:27858512:T:C | acceptor_gain | 1.0000 |
| 22:27858512:T:TC | acceptor_gain | 1.0000 |
| 22:27858513:T:C | acceptor_gain | 1.0000 |
| 22:27858513:T:TC | acceptor_gain | 1.0000 |
| 22:27858520:A:T | acceptor_gain | 1.0000 |
| 22:27860125:TTTTA:T | donor_loss | 1.0000 |
| 22:27860126:TTTAC:T | donor_loss | 1.0000 |
| 22:27860127:TTAC:T | donor_loss | 1.0000 |
| 22:27860128:TACCT:T | donor_loss | 1.0000 |
| 22:27860129:A:C | donor_loss | 1.0000 |
| 22:27860237:TCCTT:T | acceptor_gain | 1.0000 |
| 22:27860238:CCTTC:C | acceptor_gain | 1.0000 |
| 22:27860239:CTT:C | acceptor_gain | 1.0000 |
| 22:27860242:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
1809 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:27858478:C:G | R226P | 1.000 |
| 22:27860192:A:G | L195P | 1.000 |
| 22:27860194:C:A | K194N | 1.000 |
| 22:27860194:C:G | K194N | 1.000 |
| 22:27896581:G:C | H115D | 1.000 |
| 22:27897808:A:C | C94W | 1.000 |
| 22:27897823:A:C | N89K | 1.000 |
| 22:27897823:A:T | N89K | 1.000 |
| 22:27910981:T:A | K60N | 1.000 |
| 22:27910981:T:G | K60N | 1.000 |
| 22:27911093:A:G | L23P | 1.000 |
| 22:27911099:C:T | G21E | 1.000 |
| 22:27911109:A:G | Y18H | 1.000 |
| 22:27858394:A:G | L254P | 0.999 |
| 22:27858414:T:A | E247D | 0.999 |
| 22:27858414:T:G | E247D | 0.999 |
| 22:27858423:C:A | R244S | 0.999 |
| 22:27858423:C:G | R244S | 0.999 |
| 22:27858424:C:A | R244M | 0.999 |
| 22:27858424:C:G | R244T | 0.999 |
| 22:27858452:A:G | W235R | 0.999 |
| 22:27858452:A:T | W235R | 0.999 |
| 22:27858465:A:C | C230W | 0.999 |
| 22:27858472:A:G | L228P | 0.999 |
| 22:27858479:G:T | R226S | 0.999 |
| 22:27858482:G:C | H225D | 0.999 |
| 22:27858483:G:C | F224L | 0.999 |
| 22:27858483:G:T | F224L | 0.999 |
| 22:27858485:A:G | F224L | 0.999 |
| 22:27858499:C:G | R219P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000053808 (22:27903640 G>C), RS1000060535 (22:27882087 A>G), RS1000112 (22:27877351 G>C), RS1000137534 (22:27888422 T>A), RS1000143091 (22:27865168 A>T), RS1000170825 (22:27888724 G>A), RS1000221739 (22:27915340 A>G), RS1000318958 (22:27920383 C>G), RS1000340061 (22:27868830 A>C), RS1000347080 (22:27920029 A>C,G), RS1000398618 (22:27877949 C>A,G), RS1000482145 (22:27886558 G>A,T), RS1000487389 (22:27870509 G>C), RS1000512838 (22:27886960 G>A), RS1000534571 (22:27919665 A>C,G,T)
Disease associations
OMIM: gene MIM:606876 | 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 |
|---|---|---|
| GCST001057_3 | Obesity | 7.000000e-07 |
| GCST003094_4 | Mitral valve prolapse | 1.000000e-08 |
| GCST012490_157 | Femur bone mineral density x serum urate levels interaction | 2.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066263 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.95 | Kd | 1131 | nM | CHEMBL5653589 |
| 5.95 | ED50 | 1131 | nM | CHEMBL5653589 |
| 5.77 | Kd | 1715 | nM | CHEMBL3752910 |
| 5.77 | ED50 | 1715 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149015: Binding affinity to human PITPNB incubated for 45 mins by Kinobead based pull down assay | kd | 1.1314 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149015: Binding affinity to human PITPNB incubated for 45 mins by Kinobead based pull down assay | kd | 1.7147 | uM |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression | 2 |
| Hydrogen Peroxide | affects expression, affects cotreatment, increases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Aflatoxin B1 | increases methylation, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| beta-N-methylamino-L-alanine | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| kojic acid | increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| tamibarotene | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Aminoglutethimide | increases expression | 1 |
| Arbutin | increases expression | 1 |
| Atrazine | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652057 | Binding | Binding affinity to human PITPNB incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2AW | Abcam HeLa PITPNB KO | Cancer cell line | Female |
| CVCL_TD96 | HAP1 PITPNB (-) | Cancer cell line | Male |
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.