IVL
gene geneOn this page
Summary
IVL (involucrin, HGNC:6187) is a protein-coding gene on chromosome 1q21.3, encoding Involucrin (P07476). Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.
Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin.
Source: NCBI Gene 3713 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 150 total
- MANE Select transcript:
NM_005547
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6187 |
| Approved symbol | IVL |
| Name | involucrin |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000163207 |
| Ensembl biotype | protein_coding |
| OMIM | 147360 |
| Entrez | 3713 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000368764
RefSeq mRNA: 1 — MANE Select: NM_005547
NM_005547
CCDS: CCDS1030
Canonical transcript exons
ENST00000368764 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001447919 | 152908546 | 152908589 |
| ENSE00001793574 | 152909779 | 152911886 |
Expression profiles
Bgee: expression breadth ubiquitous, 147 present calls, max score 99.45.
FANTOM5 (CAGE): breadth broad, TPM avg 6.0813 / max 2232.8615, expressed in 231 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5329 | 6.0507 | 228 |
| 5328 | 0.0268 | 7 |
| 5327 | 0.0038 | 2 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cervix squamous epithelium | UBERON:0006922 | 99.45 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.43 | gold quality |
| gingiva | UBERON:0001828 | 99.34 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.24 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.69 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.34 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.84 | gold quality |
| cervix epithelium | UBERON:0004801 | 97.74 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.50 | gold quality |
| oral cavity | UBERON:0000167 | 97.29 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.22 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.06 | gold quality |
| mammalian vulva | UBERON:0000997 | 96.22 | gold quality |
| skin of leg | UBERON:0001511 | 96.22 | gold quality |
| zone of skin | UBERON:0000014 | 95.88 | gold quality |
| upper leg skin | UBERON:0004262 | 95.29 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.97 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.79 | gold quality |
| amniotic fluid | UBERON:0000173 | 93.72 | gold quality |
| penis | UBERON:0000989 | 93.41 | gold quality |
| skin of hip | UBERON:0001554 | 90.64 | gold quality |
| body of tongue | UBERON:0011876 | 90.20 | silver quality |
| vagina | UBERON:0000996 | 87.74 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.71 | gold quality |
| hair follicle | UBERON:0002073 | 87.30 | silver quality |
| mucosa of urinary bladder | UBERON:0001259 | 86.95 | gold quality |
| tongue | UBERON:0001723 | 86.25 | silver quality |
| upper arm skin | UBERON:0004263 | 85.02 | gold quality |
| diaphragm | UBERON:0001103 | 84.63 | gold quality |
| superior surface of tongue | UBERON:0007371 | 79.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.31 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, CEBPA, CEBPG, FOS, FOSL1, FOSL2, FOXN1, HOXA7, JUN, JUNB, JUND, KLF4, MED1, NFKB, PAX6, POU2F2, POU3F1, PPARG, RARG, SP1, SP3, SRF, STAT1, STAT5A, TEAD1, TFAP2A, TFAP2C, VDR, YY1
miRNA regulators (miRDB)
35 targeting IVL, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-145-3P | 99.33 | 67.66 | 764 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-6780B-3P | 99.13 | 67.18 | 622 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-5572 | 98.55 | 65.84 | 970 |
| HSA-MIR-6873-5P | 98.45 | 66.14 | 1417 |
| HSA-MIR-1304-3P | 98.29 | 66.44 | 1207 |
| HSA-MIR-92A-1-5P | 98.28 | 64.51 | 631 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-337-3P | 97.90 | 69.37 | 1052 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-6812-5P | 97.56 | 65.39 | 1059 |
| HSA-MIR-6855-5P | 97.51 | 66.03 | 830 |
| HSA-MIR-6802-3P | 97.29 | 65.42 | 613 |
Literature-anchored findings (GeneRIF, showing 34)
- involucrin gene contains distinct regulatory elements that regulate expression during epidermal differentiation (PMID:11850802)
- transactivation of involucrin by lens epithelium-derived growth factor (LEDGF) (PMID:12126624)
- the AP-1 site and the vitamin D response element in the involucrin promoter play important roles in mediating the action of 1,25-dihydroxyvitamin D3 on involucrin expression (PMID:12445200)
- role for AP1 transcription factors in the regulation of human corneal epithelial cell involucrin gene expression. (PMID:15037572)
- human involucrin promoter activity is regulated by green tea polyphenol and curcumin via opposing effects on CCAAT/enhancer-binding protein function (PMID:15044435)
- cascade regulates activator protein one, Sp1, and CCATT/enhancer-binding protein transcription factor DNA binding to two discrete involucrin promoter regions, the distal- and proximal-regulatory regions, to regulate involucrin gene expression. (PMID:15191537)
- cholesterol depletion alters involucrin gene expression through activation of p38alpha/beta. (PMID:15304097)
- YY-1 and c-Jun transcription factors participate in the repression of the human involucrin promoter. (PMID:15586248)
- Beta ig-h3 induces keratinocyte differentiation via modulation of involucrin and transglutaminase expression through the integrin alpha3beta1 and the phosphatidylinositol 3-kinase/Akt signaling pathway (PMID:15805105)
- Involucrin expression of keratinocytes is suppressed by roxithromycin through direct inhibition of AP-1 and indirect inhibition of NF-kappaB. (PMID:16140218)
- AP1, Sp1, and C/EBP transcription factors are required for appropriate differentiation-dependent involucrin expression. (PMID:16374477)
- involucrin gene expression inhibition by apigenin is associated with a specific reduction in phosphorylation of protein kinase Cdelta Tyr311 (PMID:16982614)
- Pyk2 regulation is associated with increased expression of Fra-1 and JunD, activator protein-1 transcription factors known to be required for involucrin expression. (PMID:17205062)
- There is a major role for STAT5a in the differentiation of keratinocytes, where it contributes to involucrin expression by activating the PPARgamma signal. (PMID:17330131)
- BAG-1L also potentiated transactivation of known vitamin-D-responsive gene promoters, osteocalcin and 24-hydroxylase, and enhanced VDR-dependent transcription and protein expression of the keratinocyte differentiation marker, involucrin. (PMID:17662274)
- a large multiprotein complex, which includes Fra-1, p300, P/CAF, junD, junB, and Sp1 acts at the AP1-5 site to produce a synergistic increase in hINV gene expression (PMID:17882273)
- These findings indicate that PKCdelta activity for activation of involucrin promoter requires Y(311) and a second tyrosine residue; however, any one of the several tyrosine residues can serve in the secondary role. (PMID:17943181)
- The expression of beta1-integrin was found to be significantly reduced in photoaged skin and ratios of the expressions of involucrin to beta1-integrin were increased 2.6-fold only in elderly subjects. (PMID:17968567)
- PPAR gamma regulates involucrin expression by controlling the AP-1 signal and p38 activation in 1 alpha,25(OH)2D3-induced keratinocyte differentiation. (PMID:18077140)
- The expression of loricrin and involucrin in invovled and uninvolved skin of patients with atopic dermatitis is reported. (PMID:18166499)
- siRNA for PRKD1 resulted in reduction of mRNA levels of PKD1, altered cell phenotype and promotion of keratinocyte differentiation, demonstrated by increased expression of involucrin and keratin 10 mRNAs (PMID:18259765)
- RT-PCR and western blot analysis revealed a delay in the expression of the differentiation markers K1, K10 and involucrin in HaCaT cells compared with normal human keratinocytes (PMID:18637039)
- Infection by HPV may alter the differentiation status of the epidermis, leading to earlier involucrin expression (PMID:19515043)
- higher expression in the fetal skin than in adult skin (PMID:19701759)
- expression of the epidermal differentiation complex genes filaggrin and involucrin was strongly decreased directly by IL-13. (PMID:20208004)
- Therefore, together with trichohyalin, the cross-linking due to involucrin is also responsible for the mechanical resistance of the corneous trabeculae present among the empty spaces of the medulla of the human hair. (PMID:22197495)
- The authors found that HPV 16 E6 but not E7 repressed IVL promoter activity in proliferating human foreskin keratinocyte cells. (PMID:22333115)
- Compared with the control, the level of expression of the IVL gene in NCTC 2544 cells was increased after 8 h of treatment with hyaluronic acid or Plantaricin A preparations. (PMID:22742591)
- involucrin is up-regulated in psoriatic keratinocytes (PMID:23283814)
- KLF4 is part of a multiprotein complex that interacts that the hINV promoter distal regulatory region to drive differentiation-dependent hINV gene expression in epidermis. (PMID:23599428)
- over-expression of Nnat was evident along with involucrin and cytokeratin1 expression (PMID:24252747)
- Together, these results suggest that GR modulates involucrin expression of keratinocytes by regulating the intracellular signaling network in a ligand-independent manner. (PMID:24515279)
- Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis. (PMID:32751111)
- Transcriptional activation of the involucrin gene by calcium in keratinocytes. (PMID:9159190)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Involucrin — P07476 (reviewed: P07476)
All UniProt accessions (1): P07476
UniProt curated annotations — full annotation on UniProt →
Function. Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.
Subunit / interactions. Directly or indirectly cross-linked to cornifelin (CNFN).
Subcellular location. Cytoplasm.
Tissue specificity. Keratinocytes of epidermis and other stratified squamous epithelia.
Post-translational modifications. Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other involucrin molecules, to other proteins such as keratin, desmoplakin, periplakin and envoplakin, and to lipids like omega-hydroxyceramide.
Similarity. Belongs to the involucrin family.
RefSeq proteins (1): NP_005538* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000354 | Involucrin_rpt | Repeat |
| IPR019571 | Involucrin_N | Domain |
| IPR019743 | Involucrin_CS | Conserved_site |
Pfam: PF00904, PF10583
UniProt features (70 total): repeat 39, compositionally biased region 15, sequence variant 8, region of interest 3, lipid moiety-binding region 3, chain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07476-F1 | 49.94 | 0.07 |
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 (4): 79, 118, 133, 496
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6809371 | Formation of the cornified envelope |
| R-HSA-9725554 | Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-6805567 | Keratinization |
| R-HSA-9734767 | Developmental Cell Lineages |
MSigDB gene sets: 108 (showing top):
AP1_01, GOBP_EPITHELIUM_DEVELOPMENT, JAEGER_METASTASIS_DN, MORF_BRCA1, GOBP_PEPTIDE_CROSS_LINKING, MORF_ESR1, MORF_RAD51L3, ONDER_CDH1_TARGETS_3_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_PEPTIDYL_LYSINE_MODIFICATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, MODULE_379, HUPER_BREAST_BASAL_VS_LUMINAL_UP, GOBP_RESPONSE_TO_UV, GOBP_RESPONSE_TO_RADIATION
GO Biological Process (5): response to UV-B (GO:0010224), peptide cross-linking (GO:0018149), isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153), keratinocyte differentiation (GO:0030216), keratinization (GO:0031424)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): cornified envelope (GO:0001533), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), nuclear body (GO:0016604), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 2 |
| Keratinization | 1 |
| Developmental Cell Lineages of the Integumentary System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| response to UV | 1 |
| protein modification process | 1 |
| peptidyl-glutamine modification | 1 |
| peptidyl-lysine modification | 1 |
| isopeptide cross-linking | 1 |
| epidermal cell differentiation | 1 |
| skin development | 1 |
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| binding | 1 |
| plasma membrane | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1390 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IVL | LORICRIN | P23490 | 999 |
| IVL | FLG2 | Q5D862 | 995 |
| IVL | FLG | P20930 | 994 |
| IVL | TCHH | Q07283 | 977 |
| IVL | KRT10 | P13645 | 933 |
| IVL | SPRR1B | P22528 | 903 |
| IVL | SPRR1A | P35321 | 899 |
| IVL | TGM1 | P22735 | 896 |
| IVL | SPRR3 | Q9UBC9 | 866 |
| IVL | KRT1 | P04264 | 850 |
| IVL | CNFN | Q9BYD5 | 823 |
| IVL | S100A10 | P08206 | 805 |
| IVL | PPL | O60437 | 777 |
| IVL | EVPL | Q92817 | 766 |
| IVL | TGM3 | Q08188 | 741 |
IntAct
130 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JADE1 | KAT7 | psi-mi:“MI:0914”(association) | 0.720 |
| GID8 | PGRMC2 | psi-mi:“MI:0914”(association) | 0.640 |
| SINHCAF | TNRC18 | psi-mi:“MI:0914”(association) | 0.640 |
| ZSCAN12 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| NPPA | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FTH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| GMCL1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| UGT1A10 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM24 | PPL | psi-mi:“MI:0914”(association) | 0.530 |
| KIR3DS1 | PPL | psi-mi:“MI:0914”(association) | 0.530 |
| ACAD9 | PPL | psi-mi:“MI:0914”(association) | 0.530 |
| ZIC1 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| RNF25 | IVL | psi-mi:“MI:0914”(association) | 0.530 |
| SSBP2 | CLEC18A | psi-mi:“MI:0914”(association) | 0.530 |
| IVL | ACD | psi-mi:“MI:0915”(physical association) | 0.510 |
| CRK | IVL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| IVL | DHRS2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| POT1 | IVL | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (168): IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Proximity Label-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS), IVL (Affinity Capture-MS)
ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0J9YY54, A0A1B0GV03, A2A6M5, A6NEF3, A6NI86, A8MXY4, A8MZA4, B4DH59, H0YKK7, H0YM25, P06916, P07476, P0DPF3, P0DX00, P0DX01, P0DX02, P13813, P14590, P14591, P14708, P18175, P21850, P22793, P24708, P24711, P37709, P97347, Q07283, Q3BBV0, Q3BBV2, Q5TAG4, Q5TI25, Q6AXX0, Q6P3W6, Q86T75, Q8HXZ7, Q8HXZ8, Q8HY03
Diamond homologs: P07476, P14590, P14591, P14708, P17941, P18174, P18175, P24708, P24709, P24710, P24711, P24712, P48997, P48998, Q95337
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HOXA7 | “down-regulates quantity by repression” | IVL | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
150 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 120 |
| Likely benign | 20 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
202 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:152908585:GTCTG:G | donor_gain | 0.9900 |
| 1:152908587:CTGG:C | donor_loss | 0.9900 |
| 1:152908588:TGGT:T | donor_loss | 0.9900 |
| 1:152908590:G:GA | donor_loss | 0.9900 |
| 1:152908591:TAAG:T | donor_loss | 0.9900 |
| 1:152909774:TTCAG:T | acceptor_loss | 0.9900 |
| 1:152909778:G:GA | acceptor_loss | 0.9900 |
| 1:152908590:G:GG | donor_gain | 0.9800 |
| 1:152908776:GAGA:G | donor_gain | 0.9800 |
| 1:152909770:GTCTT:G | acceptor_loss | 0.9700 |
| 1:152909771:TCTTT:T | acceptor_loss | 0.9700 |
| 1:152909772:CTTTC:C | acceptor_loss | 0.9700 |
| 1:152909777:A:AG | acceptor_gain | 0.9700 |
| 1:152909778:G:GG | acceptor_gain | 0.9700 |
| 1:152908777:A:T | donor_gain | 0.9600 |
| 1:152908780:G:GG | donor_gain | 0.9600 |
| 1:152908592:AAGT:A | donor_loss | 0.9500 |
| 1:152908581:G:GG | donor_gain | 0.9400 |
| 1:152908778:GA:G | donor_gain | 0.9400 |
| 1:152908586:TCTG:T | donor_gain | 0.9300 |
| 1:152909778:GGTT:G | acceptor_gain | 0.9300 |
| 1:152909769:T:A | acceptor_loss | 0.9200 |
| 1:152908779:A:AG | donor_gain | 0.9000 |
| 1:152908588:TG:T | donor_gain | 0.8900 |
| 1:152908589:GG:G | donor_gain | 0.8900 |
| 1:152908783:A:AG | donor_gain | 0.8900 |
| 1:152908587:CTG:C | donor_gain | 0.8700 |
| 1:152909776:CAGG:C | acceptor_gain | 0.8300 |
| 1:152908784:T:G | donor_gain | 0.8000 |
| 1:152909778:GGT:G | acceptor_gain | 0.8000 |
AlphaMissense
3848 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:152911430:T:C | F545L | 0.768 |
| 1:152911432:T:A | F545L | 0.768 |
| 1:152911432:T:G | F545L | 0.768 |
| 1:152910210:T:C | L138P | 0.577 |
dbSNP variants (sampled 300 via entrez): RS1000408101 (1:152909271 A>C), RS1000547039 (1:152910584 C>T), RS1000572967 (1:152906681 G>A,C), RS1000691868 (1:152910748 G>A,T), RS1000781975 (1:152910915 T>C,G), RS1001143738 (1:152911460 A>C,G), RS1001215340 (1:152907925 C>A), RS1001758745 (1:152911026 A>T), RS1001969668 (1:152907216 G>A,C), RS1002095712 (1:152911963 G>A,T), RS1002256583 (1:152907584 G>A), RS1002487442 (1:152906956 A>C), RS1004045633 (1:152908632 C>T), RS1005024927 (1:152909166 C>T), RS1007552982 (1:152910555 T>C)
Disease associations
OMIM: gene MIM:147360 | 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 |
|---|---|---|
| GCST003191_2 | Vitamin D levels | 1.000000e-06 |
| GCST008916_87 | Asthma | 2.000000e-13 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
76 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects binding, affects reaction, decreases reaction, decreases expression (+1 more) | 9 |
| Tretinoin | decreases expression, decreases reaction, increases expression | 7 |
| sodium arsenate | decreases expression, increases abundance | 5 |
| Tobacco Smoke Pollution | decreases expression, increases expression, affects expression | 5 |
| Tamoxifen | affects reaction, decreases expression, affects expression, affects cotreatment | 3 |
| Vanadates | decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | affects expression, increases methylation, affects reaction | 2 |
| arsenite | decreases reaction, increases abundance, decreases expression | 2 |
| hydroquinone | increases expression | 2 |
| Alitretinoin | decreases expression, increases expression | 2 |
| Antimony Potassium Tartrate | decreases expression, increases abundance | 2 |
| Calcitriol | decreases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression, decreases reaction | 2 |
| Formaldehyde | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Raloxifene Hydrochloride | affects cotreatment, decreases expression, affects expression | 2 |
| 4-oxoretinoic acid | increases expression | 1 |
| apocarotenal | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| methylparaben | increases expression | 1 |
| oltipraz | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| perillyl alcohol | decreases expression | 1 |
| 4-bromo-A-23187 | increases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | decreases expression | 1 |
| 4-oxoretinol | increases expression | 1 |
| molybdate | decreases expression | 1 |
| tungstate | decreases expression | 1 |
| 1,2-dithiol-3-thione | 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.