PITPNM2
geneOn this page
Also known as RDGBA2RDGB2NIR3
Summary
PITPNM2 (phosphatidylinositol transfer protein membrane associated 2, HGNC:21044) is a protein-coding gene on chromosome 12q24.31, encoding Membrane-associated phosphatidylinositol transfer protein 2 (Q9BZ72). Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro).
PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).
Source: NCBI Gene 57605 — RefSeq curated summary.
At a glance
- GWAS associations: 56
- Clinical variants (ClinVar): 193 total
- MANE Select transcript:
NM_020845
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21044 |
| Approved symbol | PITPNM2 |
| Name | phosphatidylinositol transfer protein membrane associated 2 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RDGBA2, RDGB2, NIR3 |
| Ensembl gene | ENSG00000090975 |
| Ensembl biotype | protein_coding |
| OMIM | 608920 |
| Entrez | 57605 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000280562, ENST00000320201, ENST00000436074, ENST00000451868, ENST00000535289, ENST00000541244, ENST00000542210, ENST00000546049, ENST00000876868, ENST00000876869, ENST00000876870, ENST00000876871, ENST00000931311
RefSeq mRNA: 11 — MANE Select: NM_020845
NM_001300801, NM_001384660, NM_001384661, NM_001384662, NM_001384663, NM_001384664, NM_001384665, NM_001384666, NM_001384667, NM_001384668, NM_020845
CCDS: CCDS73543, CCDS9242
Canonical transcript exons
ENST00000320201 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000757145 | 122988234 | 122988350 |
| ENSE00000757148 | 122987785 | 122987901 |
| ENSE00000881272 | 122986436 | 122986564 |
| ENSE00000881276 | 122987511 | 122987659 |
| ENSE00000881286 | 122995389 | 122995660 |
| ENSE00000881291 | 122997325 | 122997572 |
| ENSE00000996966 | 122996458 | 122996577 |
| ENSE00001112355 | 122988724 | 122988872 |
| ENSE00001112357 | 122986646 | 122986829 |
| ENSE00001112359 | 122992499 | 122992669 |
| ENSE00001112363 | 122987281 | 122987430 |
| ENSE00001112366 | 122994801 | 122994979 |
| ENSE00001112369 | 122996721 | 122996910 |
| ENSE00001112371 | 122990545 | 122990709 |
| ENSE00001177042 | 122989787 | 122989948 |
| ENSE00001240978 | 122983480 | 122986350 |
| ENSE00002319339 | 123110385 | 123110488 |
| ENSE00003475482 | 123013828 | 123014042 |
| ENSE00003486638 | 123034513 | 123034685 |
| ENSE00003506986 | 123005240 | 123005548 |
| ENSE00003568544 | 123004394 | 123004489 |
| ENSE00003572802 | 123001054 | 123001158 |
| ENSE00003612409 | 123009850 | 123010077 |
| ENSE00003613029 | 123000778 | 123000848 |
| ENSE00003639487 | 123012613 | 123012734 |
| ENSE00003920563 | 123150753 | 123151090 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 88.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2033 / max 333.6375, expressed in 1545 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133895 | 3.6415 | 1388 |
| 133894 | 1.0000 | 596 |
| 133879 | 0.5024 | 87 |
| 133885 | 0.4460 | 187 |
| 133893 | 0.1841 | 72 |
| 133897 | 0.1119 | 48 |
| 133886 | 0.0937 | 28 |
| 133896 | 0.0619 | 17 |
| 133877 | 0.0531 | 13 |
| 133878 | 0.0227 | 9 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| metanephros cortex | UBERON:0010533 | 88.67 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.37 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.19 | gold quality |
| left ovary | UBERON:0002119 | 86.63 | gold quality |
| right adrenal gland | UBERON:0001233 | 86.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.23 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.22 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.04 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.64 | gold quality |
| right ovary | UBERON:0002118 | 85.54 | gold quality |
| right lung | UBERON:0002167 | 85.13 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.06 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.60 | gold quality |
| apex of heart | UBERON:0002098 | 84.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.45 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.42 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.31 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.30 | gold quality |
| sural nerve | UBERON:0015488 | 84.14 | gold quality |
| thymus | UBERON:0002370 | 83.88 | silver quality |
| adrenal cortex | UBERON:0001235 | 83.75 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.57 | gold quality |
| adrenal gland | UBERON:0002369 | 83.52 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.78 | gold quality |
| granulocyte | CL:0000094 | 82.76 | gold quality |
| lower esophagus | UBERON:0013473 | 82.75 | gold quality |
| nucleus accumbens | UBERON:0001882 | 82.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 82.40 | gold quality |
| upper lobe of lung | UBERON:0008948 | 82.30 | gold quality |
| cerebellum | UBERON:0002037 | 82.28 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.96 |
| E-CURD-10 | no | 14.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
168 targeting PITPNM2, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
Literature-anchored findings (GeneRIF, showing 1)
- PITPNM2 was associated with bipolar disorder. (PMID:28195573)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000111528 | ||
| mus_musculus | Pitpnm2 | ENSMUSG00000029406 |
| rattus_norvegicus | Pitpnm2 | ENSRNOG00000029260 |
Paralogs (5): PITPNM3 (ENSG00000091622), PITPNM1 (ENSG00000110697), PITPNC1 (ENSG00000154217), PITPNA (ENSG00000174238), PITPNB (ENSG00000180957)
Protein
Protein identifiers
Membrane-associated phosphatidylinositol transfer protein 2 — Q9BZ72 (reviewed: Q9BZ72)
Alternative names: Phosphatidylinositol transfer protein, membrane-associated 2, Pyk2 N-terminal domain-interacting receptor 3
All UniProt accessions (4): Q9BZ72, F5H361, F5H664, S4R414
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.
Subunit / interactions. Interacts with PTK2B via its C-terminus. Interacts with CPNE4 (via VWFA domain).
Subcellular location. Endomembrane system.
Tissue specificity. Highly expressed in brain, heart, ovary, testis and thymus. Detected in small intestine, prostate, pancreas, skeletal muscle, liver, colon and placenta.
Similarity. Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZ72-1 | 1 | yes |
| Q9BZ72-2 | 2 | |
| Q9BZ72-3 | 3 |
RefSeq proteins (11): NP_001287730, NP_001371589, NP_001371590, NP_001371591, NP_001371592, NP_001371593, NP_001371594, NP_001371595, NP_001371596, NP_001371597, NP_065896* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001666 | PI_transfer | Family |
| IPR004177 | DDHD_dom | Domain |
| IPR023214 | HAD_sf | Homologous_superfamily |
| IPR023393 | START-like_dom_sf | Homologous_superfamily |
| IPR031315 | LNS2/PITP | Domain |
| IPR036412 | HAD-like_sf | Homologous_superfamily |
| IPR055261 | PI_transfer_N | Domain |
Pfam: PF02121, PF02862, PF24694, PF24695
UniProt features (25 total): modified residue 10, region of interest 4, compositionally biased region 4, splice variant 3, sequence variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZ72-F1 | 67.96 | 0.36 |
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 (10): 337, 341, 368, 589, 644, 700, 701, 702, 828, 1277
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1483226 | Synthesis of PI |
MSigDB gene sets: 182 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, NKX22_01, GOBP_LIPID_BIOSYNTHETIC_PROCESS
GO Biological Process (3): phosphatidylinositol biosynthetic process (GO:0006661), phospholipid transport (GO:0015914), intermembrane lipid transfer (GO:0120009)
GO Molecular Function (10): calcium ion binding (GO:0005509), phosphatidylcholine intramembrane carrier activity (GO:0008525), phosphatidylinositol transfer activity (GO:0008526), receptor tyrosine kinase binding (GO:0030971), phosphatidylcholine binding (GO:0031210), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515), obsolete phospholipid transporter activity (GO:0005548), lipid binding (GO:0008289), metal ion binding (GO:0046872)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), endomembrane system (GO:0012505), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| lipid transport | 2 |
| cation binding | 2 |
| binding | 2 |
| biosynthetic process | 1 |
| phosphatidylinositol metabolic process | 1 |
| organophosphate ester transport | 1 |
| membrane organization | 1 |
| metal ion binding | 1 |
| intramembrane lipid carrier activity | 1 |
| phosphatidylinositol binding | 1 |
| lipid transfer activity | 1 |
| signaling receptor binding | 1 |
| protein tyrosine kinase binding | 1 |
| phospholipid binding | 1 |
| quaternary ammonium group binding | 1 |
| anion binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
822 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PITPNM2 | PTK2B | Q14289 | 828 |
| PITPNM2 | ESYT1 | Q9BSJ8 | 524 |
| PITPNM2 | OGFOD2 | Q6N063 | 510 |
| PITPNM2 | C2CD2L | O14523 | 473 |
| PITPNM2 | VAPA | Q9P0L0 | 455 |
| PITPNM2 | VAPB | O95292 | 436 |
| PITPNM2 | OSBPL5 | Q9H0X9 | 430 |
| PITPNM2 | OSBP | P22059 | 425 |
| PITPNM2 | TAMM41 | Q96BW9 | 401 |
| PITPNM2 | OSBPL8 | Q9BZF1 | 400 |
| PITPNM2 | CDIPT | O14735 | 397 |
| PITPNM2 | ESYT3 | A0FGR9 | 397 |
| PITPNM2 | FAXC | Q5TGI0 | 394 |
| PITPNM2 | SBNO1 | A3KN83 | 392 |
| PITPNM2 | PRKACA | P17612 | 386 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | PITPNM1 | psi-mi:“MI:0914”(association) | 0.640 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PITPNM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-RNA), PITPNM2 (Two-hybrid), PITPNM2 (Affinity Capture-Western), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-RNA), PITPNM2 (Affinity Capture-MS), PITPNM2 (Affinity Capture-RNA)
ESM2 similar proteins: A0A072VIM5, A0A0K0PU92, A2CIR7, F4IG73, F4JD14, G3LSH3, G8GTN7, O23052, O35954, O42132, O80560, P03372, P0CI65, P57753, Q07DW4, Q09YJ3, Q0JJ01, Q2HW56, Q2IBF8, Q2QLG9, Q2QM47, Q2QXZ2, Q2RAQ5, Q4JHE0, Q53AD2, Q5D0W8, Q5KS50, Q5U2N3, Q5YLM1, Q651A1, Q67UU0, Q6WQJ1, Q75HA6, Q7EZ44, Q7XAP4, Q7Y0V7, Q8CFE5, Q8IZ41, Q9BWC9, Q9BZ72
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, Q9Y6Y8, Q8ET41, O94830, Q495M9, Q80T11, Q80Y98, Q8N8V4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
193 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 164 |
| Likely benign | 14 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6303 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:122984761:T:TA | donor_gain | 1.0000 |
| 12:122986347:TGAA:T | acceptor_gain | 1.0000 |
| 12:122986348:GAACT:G | acceptor_loss | 1.0000 |
| 12:122986350:ACTGC:A | acceptor_loss | 1.0000 |
| 12:122986351:C:CC | acceptor_gain | 1.0000 |
| 12:122986432:TCA:T | donor_loss | 1.0000 |
| 12:122986434:A:AC | donor_gain | 1.0000 |
| 12:122986434:AC:A | donor_gain | 1.0000 |
| 12:122986434:ACCTG:A | donor_loss | 1.0000 |
| 12:122986435:C:CG | donor_gain | 1.0000 |
| 12:122986435:CC:C | donor_gain | 1.0000 |
| 12:122986435:CCT:C | donor_gain | 1.0000 |
| 12:122986435:CCTGG:C | donor_gain | 1.0000 |
| 12:122986560:TGCAG:T | acceptor_gain | 1.0000 |
| 12:122986561:GCAG:G | acceptor_gain | 1.0000 |
| 12:122986562:CAG:C | acceptor_gain | 1.0000 |
| 12:122986562:CAGC:C | acceptor_gain | 1.0000 |
| 12:122986563:AG:A | acceptor_gain | 1.0000 |
| 12:122986564:GC:G | acceptor_loss | 1.0000 |
| 12:122986565:C:CC | acceptor_gain | 1.0000 |
| 12:122986565:CT:C | acceptor_loss | 1.0000 |
| 12:122986640:CCCCA:C | donor_loss | 1.0000 |
| 12:122986641:CCCA:C | donor_loss | 1.0000 |
| 12:122986642:CCAC:C | donor_loss | 1.0000 |
| 12:122986643:CACC:C | donor_loss | 1.0000 |
| 12:122986644:A:AT | donor_loss | 1.0000 |
| 12:122986663:T:TA | donor_gain | 1.0000 |
| 12:122987426:CTCCC:C | acceptor_gain | 1.0000 |
| 12:122987428:CCC:C | acceptor_gain | 1.0000 |
| 12:122987429:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
8863 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:122986524:T:A | D1213V | 1.000 |
| 12:122986524:T:C | D1213G | 1.000 |
| 12:122986524:T:G | D1213A | 1.000 |
| 12:122986525:C:G | D1213H | 1.000 |
| 12:122986526:C:A | K1212N | 1.000 |
| 12:122986526:C:G | K1212N | 1.000 |
| 12:122986536:C:T | G1209D | 1.000 |
| 12:122986537:C:G | G1209R | 1.000 |
| 12:122986540:A:C | Y1208D | 1.000 |
| 12:122986676:C:A | K1189N | 1.000 |
| 12:122986676:C:G | K1189N | 1.000 |
| 12:122986733:G:C | F1170L | 1.000 |
| 12:122986733:G:T | F1170L | 1.000 |
| 12:122986734:A:C | F1170C | 1.000 |
| 12:122986734:A:G | F1170S | 1.000 |
| 12:122986735:A:G | F1170L | 1.000 |
| 12:122986741:G:C | H1168D | 1.000 |
| 12:122986749:A:G | L1165P | 1.000 |
| 12:122986751:C:A | W1164C | 1.000 |
| 12:122986751:C:G | W1164C | 1.000 |
| 12:122986753:A:G | W1164R | 1.000 |
| 12:122986753:A:T | W1164R | 1.000 |
| 12:122986789:C:G | G1152R | 1.000 |
| 12:122986825:A:G | W1140R | 1.000 |
| 12:122986825:A:T | W1140R | 1.000 |
| 12:122987281:C:G | R1138P | 1.000 |
| 12:122987296:G:T | A1133D | 1.000 |
| 12:122987299:C:T | G1132E | 1.000 |
| 12:122987300:C:A | G1132W | 1.000 |
| 12:122987300:C:G | G1132R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000036548 (12:123099208 C>G,T), RS1000049838 (12:123123380 G>A), RS1000068353 (12:123042144 G>A), RS1000090975 (12:123143458 T>C), RS1000096373 (12:122998009 T>G), RS1000101475 (12:123099470 C>G,T), RS1000103074 (12:123033170 C>T), RS1000114669 (12:123006710 C>T), RS1000117827 (12:123045981 G>A), RS1000150122 (12:123133572 T>C), RS1000156369 (12:123053637 G>A), RS1000170545 (12:123046427 C>A,T), RS1000190698 (12:123093035 T>C), RS1000214741 (12:123060141 C>T), RS1000234147 (12:123096963 C>T)
Disease associations
OMIM: gene MIM:608920 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
56 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001061_9 | Platelet count | 3.000000e-06 |
| GCST002149_20 | Schizophrenia | 2.000000e-08 |
| GCST002539_19 | Schizophrenia | 2.000000e-14 |
| GCST002598_15 | Educational attainment | 7.000000e-08 |
| GCST004067_183 | Hip circumference adjusted for BMI | 6.000000e-14 |
| GCST004067_65 | Hip circumference adjusted for BMI | 8.000000e-14 |
| GCST004521_72 | Autism spectrum disorder or schizophrenia | 8.000000e-12 |
| GCST004599_198 | Mean platelet volume | 7.000000e-11 |
| GCST004946_85 | Schizophrenia | 6.000000e-18 |
| GCST005312_30 | Menopause (age at onset) | 2.000000e-09 |
| GCST005316_377 | Intelligence (MTAG) | 1.000000e-13 |
| GCST005316_378 | Intelligence (MTAG) | 5.000000e-13 |
| GCST005531_58 | Multiple sclerosis | 2.000000e-13 |
| GCST006803_10 | Schizophrenia | 6.000000e-16 |
| GCST006867_120 | Type 2 diabetes | 2.000000e-09 |
| GCST006976_64 | Macular thickness | 4.000000e-10 |
| GCST007277_17 | Tourette syndrome | 2.000000e-06 |
| GCST007294_159 | Body fat distribution (trunk fat ratio) | 5.000000e-06 |
| GCST007294_67 | Body fat distribution (trunk fat ratio) | 2.000000e-09 |
| GCST007295_126 | Body fat distribution (leg fat ratio) | 3.000000e-08 |
| GCST007295_59 | Body fat distribution (leg fat ratio) | 1.000000e-07 |
| GCST007800_66 | Asthma (childhood onset) | 4.000000e-11 |
| GCST009158_14 | Uterine fibroids | 2.000000e-08 |
| GCST009524_215 | Household income (MTAG) | 8.000000e-09 |
| GCST009597_272 | Multiple sclerosis | 3.000000e-13 |
| GCST009600_21 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 5.000000e-10 |
| GCST010043_63 | Asthma | 3.000000e-11 |
| GCST010703_43 | Brain morphology (MOSTest) | 1.000000e-08 |
| GCST012227_565 | Hip circumference adjusted for BMI | 2.000000e-08 |
| GCST012227_566 | Hip circumference adjusted for BMI | 7.000000e-09 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0004784 | self reported educational attainment |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004704 | age at menopause |
| EFO:0004337 | intelligence |
| EFO:0004341 | body fat distribution |
| EFO:0009695 | household income |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs12425009 | PITPNM2 | 0.00 | 0 |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression, increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Thimerosal | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | 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): uterine corpus leiomyoma