CAVIN2
gene geneOn this page
Also known as SDRPS-p68cavin-2
Summary
CAVIN2 (caveolae associated protein 2, HGNC:10690) is a protein-coding gene on chromosome 2q32.3, encoding Caveolae-associated protein 2 (O95810). Plays an important role in caveolar biogenesis and morphology.
This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.
Source: NCBI Gene 8436 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_004657
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10690 |
| Approved symbol | CAVIN2 |
| Name | caveolae associated protein 2 |
| Location | 2q32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SDR, PS-p68, cavin-2 |
| Ensembl gene | ENSG00000168497 |
| Ensembl biotype | protein_coding |
| OMIM | 606728 |
| Entrez | 8436 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000304141, ENST00000862062, ENST00000862063, ENST00000944489
RefSeq mRNA: 1 — MANE Select: NM_004657
NM_004657
CCDS: CCDS2313
Canonical transcript exons
ENST00000304141 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001152409 | 191834310 | 191836717 |
| ENSE00001254048 | 191846443 | 191847088 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 98.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.8501 / max 12305.2232, expressed in 988 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 32966 | 29.9592 | 950 |
| 32968 | 0.8104 | 268 |
| 32967 | 0.6940 | 281 |
| 32969 | 0.6098 | 161 |
| 32965 | 0.4210 | 183 |
| 32963 | 0.2093 | 95 |
| 32964 | 0.1465 | 69 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 98.96 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.72 | gold quality |
| mononuclear cell | CL:0000842 | 98.45 | gold quality |
| right lung | UBERON:0002167 | 98.03 | gold quality |
| leukocyte | CL:0000738 | 97.89 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.15 | gold quality |
| superficial temporal artery | UBERON:0001614 | 96.02 | gold quality |
| parietal pleura | UBERON:0002400 | 96.01 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.01 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.89 | gold quality |
| omental fat pad | UBERON:0010414 | 95.88 | gold quality |
| gall bladder | UBERON:0002110 | 95.86 | gold quality |
| peritoneum | UBERON:0002358 | 95.85 | gold quality |
| adipose tissue | UBERON:0001013 | 95.77 | gold quality |
| pericardium | UBERON:0002407 | 95.20 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.11 | gold quality |
| connective tissue | UBERON:0002384 | 95.02 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.78 | gold quality |
| lung | UBERON:0002048 | 94.63 | gold quality |
| urethra | UBERON:0000057 | 94.57 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.29 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.18 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.13 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.12 | gold quality |
| myocardium | UBERON:0002349 | 94.09 | gold quality |
| vena cava | UBERON:0004087 | 94.06 | gold quality |
| pleura | UBERON:0000977 | 94.03 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.03 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.02 | gold quality |
| lower esophagus | UBERON:0013473 | 93.97 | gold quality |
Single-cell (SCXA)
Detected in 30 experiment(s), a significant marker in 29.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10432 | yes | 10092.52 |
| E-GEOD-149689 | yes | 7368.44 |
| E-GEOD-150728 | yes | 7198.14 |
| E-MTAB-9221 | yes | 6520.30 |
| E-GEOD-139324 | yes | 6318.13 |
| E-CURD-122 | yes | 5310.07 |
| E-GEOD-130148 | yes | 3599.39 |
| E-CURD-55 | yes | 3035.43 |
| E-CURD-46 | yes | 2347.90 |
| E-MTAB-6308 | yes | 2314.56 |
| E-CURD-112 | yes | 2260.36 |
| E-MTAB-10553 | yes | 2072.57 |
| E-MTAB-6653 | yes | 1788.74 |
| E-HCAD-10 | yes | 1751.16 |
| E-CURD-126 | yes | 1672.92 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO1
miRNA regulators (miRDB)
105 targeting CAVIN2, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| 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-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-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
Literature-anchored findings (GeneRIF, showing 17)
- Study conclude that SDPR is a membrane-curvature-inducing component of caveolae, and that STB-induced membrane tubulation is facilitated by caveolae. (PMID:19525939)
- The cavin family protein Polymerase 1 and transcript release factor, SRBC and serum deprivation response protein were down regulated in breast cancer cell lines and breast tumor tissue. (PMID:21913217)
- Rather than forming a single coat complex containing the three cavin family members, single-molecule analysis reveals an exquisite specificity of interactions between cavin1, cavin2 and cavin3. (PMID:24473072)
- Three genes (LY96, IL8 DPR) were significantly downregulated over time. This finding was confirmed in a validation cohort of stroke patients (n=8). (PMID:25124890)
- Data found that CVN2 expression was signi fi cantly down-regulated in oral squamous cell carcinoma (OSCC) in vitro and in vivo and that CVN2 overexpression led to decreased proliferative activities through the CVN2/caveolin-1/ERK path- way. Furthermore, high tumoral progression occurred in CVN2-negative patients with OSCC. (PMID:26086332)
- Cavin-1 and cavin-2 are strongly expressed within caveolae-like structures within liver sinusoidal endothelial cells of the hepatitis C-related cirrhotic liver and cavin-1 would play a critical role in regulating aspects of caveolin-1. (PMID:26086560)
- identification of a novel metastasis suppressor gene, serum deprivation response (SDPR), localized to 2q32-33, a region reported to be associated with significant loss of heterozygosity in breast cancer, is reported. (PMID:26739564)
- Hepatocellular carcinoma patients with lower cavin-2 expression have a relatively poor prognosis. (PMID:27513662)
- SDPR variants were not associated with major depressive disorder. (PMID:27721187)
- Overall, these data suggest that Cavin-2 represents a useful marker for discriminating the degree of differentiation in LPS tumors. (PMID:28865960)
- Results show that SDPR expression is increased in invasive endometrioid carcinoma (EC) and provide evidence that SDPR protein alter the expression of ALDH1 in EC cells through ILK signaling. Moreover, SDPR is associated with several histological characteristics of invasiveness. (PMID:30907484)
- Low SDPR expression is associated with cancer. (PMID:31322248)
- Serum deprivation response functions as a tumor suppressor gene in papillary thyroid cancer. (PMID:31334828)
- CAVIN2 is frequently silenced by CpG methylation and sensitizes lung cancer cells to paclitaxel and 5-FU. (PMID:33016107)
- LINC00261/microRNA-550a-3p/SDPR axis affects the biological characteristics of breast cancer stem cells. (PMID:33274565)
- Serum deprivation-response protein induces apoptosis in hepatocellular carcinoma through ASK1-JNK/p38 MAPK pathways. (PMID:33931585)
- SDPR expression in human trabecular meshwork and its potential role in racial disparities of glaucoma. (PMID:38704467)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cavin2a | ENSDARG00000027611 |
| danio_rerio | cavin2b | ENSDARG00000071196 |
| mus_musculus | Cavin2 | ENSMUSG00000045954 |
| rattus_norvegicus | Cavin2 | ENSRNOG00000025895 |
Paralogs (3): CAVIN4 (ENSG00000170681), CAVIN3 (ENSG00000170955), CAVIN1 (ENSG00000177469)
Protein
Protein identifiers
Caveolae-associated protein 2 — O95810 (reviewed: O95810)
Alternative names: Cavin-2, PS-p68, Phosphatidylserine-binding protein, Serum deprivation-response protein
All UniProt accessions (1): O95810
UniProt curated annotations — full annotation on UniProt →
Function. Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae. Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in the lung and fat endothelia but not in the heart endothelia. Negatively regulates the size or stability of CAVIN complexes in the lung endothelial cells. May play a role in targeting PRKCA to caveolae.
Subunit / interactions. Component of the CAVIN complex composed of CAVIN1, CAVIN2, CAVIN3 and CAVIN4. Binds to PRKCA in the presence of phosphatidylserine. Interacts with CAVIN4; this augments the transactivation of NPPA by CAVIN4. Interacts with CAVIN1. Interacts with CAV3.
Subcellular location. Cytoplasm. Cytosol. Membrane. Caveola.
Tissue specificity. Highly expressed in heart and lung, and expressed at lower levels in brain, kidney, liver, pancreas, placenta, and skeletal muscle.
Post-translational modifications. Phosphorylated on Ser residues.
Domain organisation. The leucine-zipper domain is essential for its localization in the caveolae.
Induction. Up-regulated in asyncronously growing fibroblasts following serum deprivation but not following contact inhibition. Down-regulated during synchronous cell cycle re-entry.
Miscellaneous. Binds phosphatidylserine (PS) in a calcium-independent manner. PS-binding is inhibited by phosphotidic acid and phosphatidylinositol. Does not bind phosphatidylcholine.
Similarity. Belongs to the CAVIN family.
RefSeq proteins (1): NP_004648* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026752 | Cavin_fam | Family |
Pfam: PF15237
UniProt features (42 total): modified residue 22, compositionally biased region 6, region of interest 5, mutagenesis site 3, coiled-coil region 3, initiator methionine 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95810-F1 | 63.48 | 0.22 |
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 (22): 2, 27, 35, 37, 51, 196, 199, 203, 204, 218, 283, 284, 287, 288, 293, 332, 341, 366, 370, 375 …
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 86 | loss of localization in caveolae; when associated with e-93 or e-100. |
| 93 | loss of localization in caveolae; when associated with e-86 or e-100. |
| 100 | loss of localization in caveolae; when associated with e-86 or e-93. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 263 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, AREB6_03, GOBP_PLASMA_MEMBRANE_ORGANIZATION, CAGCTG_AP4_Q5, SRF_Q5_01, NKX61_01, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, TCF4_Q5, NKX62_Q2, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GROSS_HIF1A_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX1_DN
GO Biological Process (1): plasma membrane tubulation (GO:0097320)
GO Molecular Function (5): phosphatidylserine binding (GO:0001786), protein kinase C binding (GO:0005080), phospholipid binding (GO:0005543), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (7): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), caveola (GO:0005901), membrane raft (GO:0045121), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| binding | 2 |
| plasma membrane organization | 1 |
| phospholipid binding | 1 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| protein kinase binding | 1 |
| lipid binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane raft | 1 |
| membrane microdomain | 1 |
Protein interactions and networks
STRING
716 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CAVIN2 | CAV1 | Q03135 | 901 |
| CAVIN2 | CAVIN4 | Q5BKX8 | 822 |
| CAVIN2 | CAVIN3 | Q969G5 | 679 |
| CAVIN2 | EHD2 | Q9NZN4 | 648 |
| CAVIN2 | ANXA5 | P08758 | 644 |
| CAVIN2 | CAV2 | P51636 | 584 |
| CAVIN2 | PRKCA | P17252 | 584 |
| CAVIN2 | CAVIN1 | Q6NZI2 | 542 |
| CAVIN2 | CAV3 | P56539 | 514 |
| CAVIN2 | PLEK2 | Q9NYT0 | 500 |
| CAVIN2 | EHD3 | Q9NZN3 | 500 |
| CAVIN2 | PACSIN2 | Q9UNF0 | 498 |
| CAVIN2 | PLEK | P08567 | 493 |
| CAVIN2 | LGALS2 | P05162 | 491 |
| CAVIN2 | FLNA | P21333 | 469 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| CAV1 | CAVIN2 | psi-mi:“MI:0914”(association) | 0.600 |
| CAVIN2 | CAV1 | psi-mi:“MI:0914”(association) | 0.600 |
| CAV1 | CAVIN2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| CAVIN2 | CAV1 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| A1CF | CAVIN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN2 | A1CF | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN2 | PLEKHF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAPPC6A | CAVIN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN2 | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN2 | PLEK | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEK | CAVIN2 | psi-mi:“MI:0914”(association) | 0.560 |
| N | CAVIN2 | psi-mi:“MI:0914”(association) | 0.530 |
| HDGFL2 | CDC7 | psi-mi:“MI:0914”(association) | 0.530 |
| CAVIN1 | CAVIN2 | psi-mi:“MI:0914”(association) | 0.500 |
| CAVIN1 | CAVIN2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CAVIN3 | CAVIN2 | psi-mi:“MI:0914”(association) | 0.490 |
| CAVIN3 | CAVIN2 | psi-mi:“MI:0403”(colocalization) | 0.490 |
| CAVIN2 | ANXA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CAVIN2 | SDC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CAVIN2 | CAVIN2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CAVIN2 | NUDT18 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CAVIN2 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (75): SDPR (Two-hybrid), A1CF (Two-hybrid), NUDT18 (Two-hybrid), PLEKHF2 (Two-hybrid), SDPR (Affinity Capture-MS), SDPR (Affinity Capture-MS), SDPR (Affinity Capture-MS), SDPR (Proximity Label-MS), SDPR (Affinity Capture-MS), SDPR (Two-hybrid), SDPR (Two-hybrid), MCRS1 (Two-hybrid), SDPR (Affinity Capture-MS), SDPR (Affinity Capture-MS), SDPR (Affinity Capture-MS)
ESM2 similar proteins: A0MZ67, A1L260, A2AMM0, A2VDA9, A4IGC3, A5PJI6, A9C3W3, B1PRL5, B9EKI3, O35711, O35867, O54724, O76878, O94876, O95810, P34609, P55326, P70302, P83093, P84903, P85125, Q0IIE0, Q13586, Q29EP6, Q32PN7, Q58CP9, Q5BKX8, Q5FWS6, Q63918, Q66H98, Q674X7, Q69ZS8, Q69ZZ6, Q6NZI2, Q6P0R8, Q6P402, Q7T019, Q8CJ96, Q8K2Q9, Q8MJK1
Diamond homologs: A1L260, A2AMM0, A2VDA9, A4FV37, A5PJI6, B1PRL5, O54724, O95810, P85125, Q5BKX8, Q63918, Q66H98, Q6NZI2, Q969G5, Q9Z1H9, Q91VJ2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
130 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:191836713:TCCTC:T | acceptor_gain | 1.0000 |
| 2:191836714:CCTCC:C | acceptor_gain | 1.0000 |
| 2:191836715:CTC:C | acceptor_gain | 1.0000 |
| 2:191836716:TC:T | acceptor_gain | 1.0000 |
| 2:191836717:CC:C | acceptor_gain | 1.0000 |
| 2:191836717:CCTG:C | acceptor_loss | 1.0000 |
| 2:191836718:C:CC | acceptor_gain | 1.0000 |
| 2:191836718:CT:C | acceptor_loss | 1.0000 |
| 2:191846438:CTGA:C | donor_loss | 1.0000 |
| 2:191846439:TGAC:T | donor_loss | 1.0000 |
| 2:191846440:GAC:G | donor_loss | 1.0000 |
| 2:191846441:AC:A | donor_loss | 1.0000 |
| 2:191846442:C:G | donor_loss | 1.0000 |
| 2:191836714:CCTC:C | acceptor_gain | 0.9900 |
| 2:191836715:CTCC:C | acceptor_gain | 0.9900 |
| 2:191836716:TCCT:T | acceptor_gain | 0.9900 |
| 2:191836727:C:CT | acceptor_gain | 0.9900 |
| 2:191836728:G:T | acceptor_gain | 0.9900 |
| 2:191841137:A:T | acceptor_gain | 0.9300 |
| 2:191836717:C:G | acceptor_gain | 0.9200 |
| 2:191836718:C:T | acceptor_gain | 0.9100 |
| 2:191846441:A:AC | donor_gain | 0.9000 |
| 2:191846442:C:CC | donor_gain | 0.9000 |
| 2:191840833:T:A | donor_gain | 0.8800 |
| 2:191846508:TC:T | donor_gain | 0.8800 |
| 2:191836731:CAA:C | acceptor_gain | 0.7900 |
| 2:191836718:C:G | acceptor_gain | 0.7800 |
| 2:191837518:T:TA | donor_gain | 0.7400 |
| 2:191836733:A:C | acceptor_gain | 0.7000 |
| 2:191846563:G:T | donor_gain | 0.7000 |
AlphaMissense
2825 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:191846446:G:C | F160L | 0.996 |
| 2:191846446:G:T | F160L | 0.996 |
| 2:191846448:A:G | F160L | 0.996 |
| 2:191846461:G:C | F155L | 0.996 |
| 2:191846461:G:T | F155L | 0.996 |
| 2:191846463:A:G | F155L | 0.996 |
| 2:191846480:A:G | L149P | 0.996 |
| 2:191846585:A:G | L114P | 0.996 |
| 2:191846732:A:G | L65P | 0.996 |
| 2:191836463:A:C | F246L | 0.995 |
| 2:191836463:A:T | F246L | 0.995 |
| 2:191836464:A:G | F246S | 0.995 |
| 2:191836465:A:G | F246L | 0.995 |
| 2:191836472:C:A | K243N | 0.995 |
| 2:191836472:C:G | K243N | 0.995 |
| 2:191846462:A:G | F155S | 0.995 |
| 2:191846574:A:G | S118P | 0.995 |
| 2:191846636:A:G | L97P | 0.995 |
| 2:191846501:A:G | L142P | 0.994 |
| 2:191846741:A:G | L62P | 0.994 |
| 2:191846744:A:G | L61P | 0.994 |
| 2:191846627:A:G | L100P | 0.993 |
| 2:191836476:A:T | L242H | 0.992 |
| 2:191846450:A:G | I159T | 0.992 |
| 2:191836397:T:A | R268S | 0.991 |
| 2:191836397:T:G | R268S | 0.991 |
| 2:191836496:G:C | S235R | 0.990 |
| 2:191836496:G:T | S235R | 0.990 |
| 2:191836498:T:G | S235R | 0.990 |
| 2:191836505:T:A | K232N | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000069773 (2:191837840 G>A), RS1000907747 (2:191844918 C>T), RS1000966527 (2:191837240 A>T), RS1001256533 (2:191844460 C>G), RS1001692417 (2:191839158 T>A), RS1001738992 (2:191842701 ATTTAT>A), RS1001744057 (2:191842357 A>C), RS1001805622 (2:191838785 A>G), RS1001917436 (2:191833965 T>C,G), RS1002142887 (2:191840287 T>G), RS1002566048 (2:191848134 T>C), RS1002634955 (2:191847863 T>C), RS1002870881 (2:191848046 C>G), RS1002946845 (2:191834188 G>A), RS1003087864 (2:191841150 A>T)
Disease associations
OMIM: gene MIM:606728 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_284 | Mean platelet volume | 3.000000e-32 |
| GCST004603_215 | Platelet count | 1.000000e-09 |
| GCST007637_35 | Diffusing capacity of carbon monoxide | 5.000000e-06 |
| GCST009391_764 | Metabolite levels | 9.000000e-06 |
| GCST010320_11 | PR interval | 3.000000e-10 |
| GCST010321_197 | PR interval | 8.000000e-13 |
| GCST90002395_350 | Mean platelet volume | 8.000000e-50 |
| GCST90002395_351 | Mean platelet volume | 2.000000e-20 |
| GCST90002395_352 | Mean platelet volume | 4.000000e-20 |
| GCST90002402_284 | Platelet count | 2.000000e-15 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0010391 | sphingomyelin 16:0 measurement |
| EFO:0004462 | PR interval |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
83 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 8 |
| bisphenol A | affects expression, decreases expression, decreases methylation, affects cotreatment | 6 |
| sodium arsenite | decreases expression, increases expression | 4 |
| Aflatoxin B1 | increases methylation, affects expression, increases expression | 4 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| bisphenol S | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Nickel | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| lead acetate | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| titanium dioxide | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| periodate-oxidized adenosine | affects 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.