CRNN
geneOn this page
Also known as SEP53
Summary
CRNN (cornulin, HGNC:1230) is a protein-coding gene on chromosome 1q21.3, encoding Cornulin (Q9UBG3). Promotes cell proliferation, G1/S cell cycle progression and induces expression of the cell cycle regulator CCND1.
This gene encodes a member of the “fused gene” family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation.
Source: NCBI Gene 49860 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 85 total
- MANE Select transcript:
NM_016190
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1230 |
| Approved symbol | CRNN |
| Name | cornulin |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEP53 |
| Ensembl gene | ENSG00000143536 |
| Ensembl biotype | protein_coding |
| OMIM | 611312 |
| Entrez | 49860 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000271835
RefSeq mRNA: 1 — MANE Select: NM_016190
NM_016190
CCDS: CCDS1010
Canonical transcript exons
ENST00000271835 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000960720 | 152412096 | 152412246 |
| ENSE00001177324 | 152409243 | 152410943 |
| ENSE00001826834 | 152414214 | 152414263 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 99.96.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 9.3022 / max 5484.6232, expressed in 45 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14563 | 9.0770 | 44 |
| 14564 | 0.2063 | 15 |
| 14561 | 0.0116 | 4 |
| 14562 | 0.0074 | 3 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.96 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.82 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.73 | gold quality |
| buccal mucosa cell | CL:0002336 | 99.64 | gold quality |
| gingiva | UBERON:0001828 | 99.52 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.43 | gold quality |
| body of tongue | UBERON:0011876 | 99.32 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.29 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.22 | gold quality |
| squamous epithelium | UBERON:0006914 | 99.09 | gold quality |
| oral cavity | UBERON:0000167 | 99.00 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.84 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.38 | gold quality |
| cervix epithelium | UBERON:0004801 | 98.29 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.91 | gold quality |
| tongue | UBERON:0001723 | 96.11 | gold quality |
| superior surface of tongue | UBERON:0007371 | 90.90 | gold quality |
| vagina | UBERON:0000996 | 88.78 | gold quality |
| esophagus | UBERON:0001043 | 84.92 | gold quality |
| periodontal ligament | UBERON:0008266 | 83.81 | gold quality |
| mammalian vulva | UBERON:0000997 | 83.74 | gold quality |
| tonsil | UBERON:0002372 | 82.04 | gold quality |
| uterine cervix | UBERON:0000002 | 81.96 | gold quality |
| penis | UBERON:0000989 | 81.74 | gold quality |
| ectocervix | UBERON:0012249 | 77.41 | gold quality |
| mouth mucosa | UBERON:0003729 | 75.55 | gold quality |
| oviduct epithelium | UBERON:0004804 | 75.02 | gold quality |
| skin of leg | UBERON:0001511 | 73.47 | gold quality |
| skin of abdomen | UBERON:0001416 | 72.54 | gold quality |
| sperm | CL:0000019 | 71.98 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 9811.69 |
| E-ANND-3 | yes | 11.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting CRNN, 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-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-1286 | 99.09 | 66.23 | 1046 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-6841-3P | 98.08 | 66.54 | 604 |
| HSA-MIR-219B-5P | 97.91 | 65.80 | 531 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-3187-3P | 97.38 | 65.80 | 904 |
| HSA-MIR-1243 | 97.07 | 65.44 | 719 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
| HSA-MIR-3654 | 96.43 | 66.55 | 646 |
| HSA-MIR-3675-5P | 95.90 | 65.80 | 474 |
Literature-anchored findings (GeneRIF, showing 11)
- SEP53 may be a component of the mucosal/epithelial innate immune response engaged in an ongoing interaction with a pathogen (PMID:17925851)
- Results describe the cloning of porcine SEP53, its homology to the human protein, and its expression in the esophagus and in gastric squamous epithelium. (PMID:18465210)
- CRNN mRNA expression is decreased in eczematous skin (PMID:19133922)
- Negative regulation of SIRT1 by DBC1 may retard tumorigenesis in breast tissue, so the correlation between SIRT1 and DBC1 is a potential prognostic indicator in breast cancer. (PMID:20412117)
- cornulin is an important molecule in normal esophageal pathology and is likely lost during the conversion of normal to neoplastic epithelium (PMID:22560086)
- Findings demonstrate that CRNN is a tumor suppressor gene that plays a critical tumor suppressive role in ESCC. (PMID:23894350)
- Loss of CRNN expression correlated with advanced tumor length, greater tumor invasion depth, lymph node metastasis, and poor survival in patients with esophageal squamous cell carcinoma. (PMID:24263008)
- This study showed a significant correlation between LOH/MSI at 1q21.3 with clinical outcomes and that downregulation of CRNN gene could be considered as a prognostic marker of OSCC. (PMID:25846277)
- The single-nucleotide polymorphisms of CRNN (rs941934) and RPTN (rs3001978, rs28441202) may contribute to Atopic Dermatitis development, but further studies on a larger group of Atopic Dermatitis patients are needed to verify this assumption. (PMID:28219068)
- knockdown of CRNN by small interfering RNA suppressed G1/S transition and attenuated the M5-induced proliferation. In addition, CRNN overexpression increased the phosphorylation and activation of phosphoinositide 3-kinase and Akt. Inactivation of the phosphoinositide 3-kinase and Akt pathways using small interfering RNA or selective inhibitors (LY294002 and MK2206) reduced the proliferative effects of CRNN (PMID:30009832)
- Identification of Down-Expressed CRNN Associated with Cancer Progression and Poor Prognosis in Laryngeal Squamous Cell Carcinoma. (PMID:38538265)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | s100s | ENSDARG00000036773 |
| danio_rerio | s100a10a | ENSDARG00000037425 |
| danio_rerio | s100t | ENSDARG00000055589 |
| mus_musculus | Crnn | ENSMUSG00000078657 |
| rattus_norvegicus | Crnn | ENSRNOG00000008721 |
Paralogs (21): S100A8 (ENSG00000143546), S100A7 (ENSG00000143556), S100B (ENSG00000160307), S100A1 (ENSG00000160678), S100A11 (ENSG00000163191), S100A9 (ENSG00000163220), S100A12 (ENSG00000163221), S100P (ENSG00000163993), S100G (ENSG00000169906), S100Z (ENSG00000171643), S100A7A (ENSG00000184330), S100A3 (ENSG00000188015), S100A16 (ENSG00000188643), SNTN (ENSG00000188817), S100A13 (ENSG00000189171), S100A14 (ENSG00000189334), S100A4 (ENSG00000196154), S100A5 (ENSG00000196420), S100A2 (ENSG00000196754), S100A10 (ENSG00000197747), S100A6 (ENSG00000197956)
Protein
Protein identifiers
Cornulin — Q9UBG3 (reviewed: Q9UBG3)
Alternative names: 53 kDa putative calcium-binding protein, 53 kDa squamous epithelial-induced stress protein, 58 kDa heat shock protein, Squamous epithelial heat shock protein 53, Tumor-related protein
All UniProt accessions (1): Q9UBG3
UniProt curated annotations — full annotation on UniProt →
Function. Promotes cell proliferation, G1/S cell cycle progression and induces expression of the cell cycle regulator CCND1. Regulates proliferation induced by pro-inflammatory cytokine response via activation of NFKB1 and PI3K/AKT signaling pathways.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in the basal skin layer (at protein level). Squamous epithelia cell-specific. Expressed in the esophagus (periphery of the cells of the granular and the upper spinous layers), foreskin (granular and lower cornified cells), scalp skin (granular layer), inner root sheath of the hair follicle and in primary keratinocytes (at protein level). Expressed in the squamous epithelium of the cervix, esophagus, foreskin and larynx. Expressed in the fetal bladder and scalp skin. Expressed at very low levels in the lung, kidney, uterus, skeletal muscle, heart and fetal brain. Undetectable or barely detectable in esophageal and oral squamous cell carcinoma compared with the matched adjacent normal esophageal mucosa. Undetectable or barely detectable in larynx and esophagus from patients with pH-documented laryngopharyngeal reflux (LPR).
Disease relevance. Esophageal cancer (ESCR) [MIM:133239] A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. Disease susceptibility is associated with variants affecting the gene represented in this entry. CRNN expression is increased in psoriasis patients suggesting a potential role in disease pathogenesis.
Domain organisation. The EF-hand is necessary for the colony survival activity to protect cells from death induced by exposure to DCA.
Induction. Up-regulated after heat shock, ponasterone A and deoxycholic acid. Induced in response to pro-inflammatory cytokines.
Similarity. Belongs to the S100-fused protein family.
RefSeq proteins (1): NP_057274* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR013787 | S100_Ca-bd_sub | Domain |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR034325 | S-100_dom | Domain |
Pfam: PF01023
UniProt features (24 total): compositionally biased region 12, binding site 5, sequence variant 3, region of interest 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBG3-F1 | 49.45 | 0.14 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 62; 64; 66; 68; 73
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 69 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_RESPONSE_TO_PEPTIDE, LFA1_Q6, GOBP_KERATINOCYTE_PROLIFERATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_KERATINOCYTE_PROLIFERATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, TGANTCA_AP1_C, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS
GO Biological Process (8): response to heat (GO:0009408), regulation of gene expression (GO:0010468), positive regulation of keratinocyte proliferation (GO:0010838), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051896), cellular response to cytokine stimulus (GO:0071345), cell-cell adhesion (GO:0098609), positive regulation of cell cycle G1/S phase transition (GO:1902808)
GO Molecular Function (5): calcium ion binding (GO:0005509), transition metal ion binding (GO:0046914), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): cytoplasm (GO:0005737), membrane (GO:0016020), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metal ion binding | 2 |
| cellular anatomical structure | 2 |
| response to stress | 1 |
| response to temperature stimulus | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| regulation of keratinocyte proliferation | 1 |
| keratinocyte proliferation | 1 |
| positive regulation of epithelial cell proliferation | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| response to cytokine | 1 |
| cell adhesion | 1 |
| cell cycle G1/S phase transition | 1 |
| positive regulation of cell cycle phase transition | 1 |
| regulation of cell cycle G1/S phase transition | 1 |
| calcium ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1244 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRNN | DEPP1 | Q9NTK1 | 952 |
| CRNN | TGM3 | Q08188 | 698 |
| CRNN | CRCT1 | Q9UGL9 | 571 |
| CRNN | KRT4 | P19013 | 521 |
| CRNN | KRTDAP | P60985 | 516 |
| CRNN | TCHHL1 | Q5QJ38 | 512 |
| CRNN | LORICRIN | P23490 | 506 |
| CRNN | SCEL | O95171 | 481 |
| CRNN | KRT32 | Q14532 | 479 |
| CRNN | TMPRSS11B | Q86T26 | 474 |
| CRNN | KPRP | Q5T749 | 471 |
| CRNN | FLG | P20930 | 466 |
| CRNN | SPINK5 | Q9NQ38 | 464 |
| CRNN | SPRR3 | Q9UBC9 | 464 |
| CRNN | DSG1 | Q02413 | 453 |
IntAct
97 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOP10 | DKC1 | psi-mi:“MI:0914”(association) | 0.890 |
| STIP1 | CCDC117 | psi-mi:“MI:0914”(association) | 0.770 |
| COMMD1 | VPS26C | psi-mi:“MI:0914”(association) | 0.730 |
| SNW1 | AQR | psi-mi:“MI:0914”(association) | 0.650 |
| NSL1 | NDC80 | psi-mi:“MI:0914”(association) | 0.640 |
| DCTN5 | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| RAP1GDS1 | DIRAS1 | psi-mi:“MI:0914”(association) | 0.640 |
| LMO4 | CRNN | psi-mi:“MI:0915”(physical association) | 0.560 |
| FTH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR59 | EPB41L2 | psi-mi:“MI:0914”(association) | 0.530 |
| UCP2 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf162 | KIAA1143 | psi-mi:“MI:0914”(association) | 0.530 |
| NRM | ZG16B | psi-mi:“MI:0914”(association) | 0.530 |
| GPN3 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| KIR2DS2 | RHOBTB3 | psi-mi:“MI:0914”(association) | 0.530 |
| NPB | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| SFTA2 | TBCE | psi-mi:“MI:0914”(association) | 0.530 |
| CIMAP3 | PSMG3 | psi-mi:“MI:0914”(association) | 0.530 |
| SCAMP2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RAG2 | CRNN | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX15 | CRNN | psi-mi:“MI:0915”(physical association) | 0.400 |
| B3GNT5 | CRNN | psi-mi:“MI:0915”(physical association) | 0.400 |
| NPB | IL16 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (102): CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Synthetic Lethality), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), SSX2IP (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS), CRNN (Affinity Capture-MS)
ESM2 similar proteins: A2VE23, A6NDE4, A6NEQ0, B3A0P1, P02672, P02674, P04279, P04474, P05995, P07186, P0C7A4, P0C7A5, P0C7P1, P0DJD3, P0DJD4, P11088, P11596, P13428, P20930, P24516, P55704, Q02383, Q10124, Q15415, Q21127, Q23935, Q24669, Q2VIS4, Q4X212, Q54T37, Q5U7M7, Q5U7M8, Q5U7M9, Q5U7N0, Q5U7N1, Q5U7N3, Q5U7N4, Q6AYN3, Q6E0U4, Q6JHY2
Diamond homologs: A6QP92, P20930, P37709, P97347, Q07283, Q2VIS4, Q5D862, Q5QJ38, Q6XPR3, Q9D3P1, Q9UBG3, A7K6Y8, A7K6Y9, O77691, O77791, P02632, P02633, P02634, P02638, P02639, P04271, P04631, P05109, P05942, P05943, P05964, P06702, P06703, P07091, P14069, P22793, P23297, P24479, P24480, P25815, P27004, P27005, P28318, P28782, P28783
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
213 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:152410941:TTT:T | acceptor_gain | 1.0000 |
| 1:152410942:TT:T | acceptor_gain | 1.0000 |
| 1:152410942:TTCTG:T | acceptor_loss | 1.0000 |
| 1:152410943:TC:T | acceptor_loss | 1.0000 |
| 1:152410944:C:CA | acceptor_loss | 1.0000 |
| 1:152410944:C:CC | acceptor_gain | 1.0000 |
| 1:152410945:T:G | acceptor_loss | 1.0000 |
| 1:152412247:C:CC | acceptor_gain | 1.0000 |
| 1:152410864:T:TA | donor_gain | 0.9900 |
| 1:152410939:GGTTT:G | acceptor_gain | 0.9900 |
| 1:152410940:GTTT:G | acceptor_gain | 0.9900 |
| 1:152412092:GTA:G | donor_loss | 0.9900 |
| 1:152412093:TA:T | donor_loss | 0.9900 |
| 1:152412095:CCA:C | donor_gain | 0.9900 |
| 1:152412141:C:A | donor_gain | 0.9900 |
| 1:152412242:TCAAC:T | acceptor_gain | 0.9900 |
| 1:152412243:CAAC:C | acceptor_gain | 0.9900 |
| 1:152412243:CAACC:C | acceptor_gain | 0.9900 |
| 1:152412244:AAC:A | acceptor_gain | 0.9900 |
| 1:152412245:AC:A | acceptor_gain | 0.9900 |
| 1:152412245:ACC:A | acceptor_loss | 0.9900 |
| 1:152412246:CC:C | acceptor_gain | 0.9900 |
| 1:152412246:CCTG:C | acceptor_loss | 0.9900 |
| 1:152411080:AATTG:A | donor_gain | 0.9700 |
| 1:152412094:A:AC | donor_gain | 0.9700 |
| 1:152412095:C:CC | donor_gain | 0.9700 |
| 1:152414209:CTTA:C | donor_loss | 0.9700 |
| 1:152414210:TTACC:T | donor_loss | 0.9700 |
| 1:152414211:TA:T | donor_loss | 0.9700 |
| 1:152412055:T:A | donor_gain | 0.9600 |
AlphaMissense
3245 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:152412189:G:C | F15L | 0.995 |
| 1:152412189:G:T | F15L | 0.995 |
| 1:152412191:A:G | F15L | 0.995 |
| 1:152410869:G:C | F71L | 0.994 |
| 1:152410869:G:T | F71L | 0.994 |
| 1:152410871:A:G | F71L | 0.994 |
| 1:152410860:G:C | F74L | 0.991 |
| 1:152410860:G:T | F74L | 0.991 |
| 1:152410862:A:G | F74L | 0.991 |
| 1:152410870:A:G | F71S | 0.990 |
| 1:152412136:A:G | L33P | 0.989 |
| 1:152410861:A:G | F74S | 0.988 |
| 1:152412112:A:G | F41S | 0.987 |
| 1:152412127:A:G | L36P | 0.986 |
| 1:152410832:C:G | A84P | 0.982 |
| 1:152412124:A:G | L37S | 0.981 |
| 1:152412151:A:T | L28H | 0.981 |
| 1:152410837:G:T | A82D | 0.979 |
| 1:152412190:A:G | F15S | 0.979 |
| 1:152410838:C:G | A82P | 0.978 |
| 1:152410870:A:C | F71C | 0.978 |
| 1:152410861:A:C | F74C | 0.976 |
| 1:152410845:A:C | F79L | 0.974 |
| 1:152410845:A:T | F79L | 0.974 |
| 1:152410847:A:G | F79L | 0.974 |
| 1:152412132:T:A | K34N | 0.971 |
| 1:152412132:T:G | K34N | 0.971 |
| 1:152412223:A:G | L4S | 0.971 |
| 1:152410852:A:G | L77S | 0.968 |
| 1:152412100:A:T | I45N | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1001841905 (1:152412519 C>T), RS1002460077 (1:152413733 T>C), RS1002839986 (1:152414194 T>A), RS1002894393 (1:152414663 G>A,T), RS1002898178 (1:152414219 G>A), RS1003124119 (1:152411067 A>C), RS1003489060 (1:152412669 T>C), RS1003564747 (1:152411366 C>A,T), RS1004227898 (1:152408975 G>A,C), RS1004736408 (1:152415059 C>T), RS1005590598 (1:152412764 C>T), RS1005644332 (1:152410281 C>T), RS1005918438 (1:152414285 C>A,T), RS1006239297 (1:152411656 T>C), RS1006600955 (1:152411385 G>A)
Disease associations
OMIM: gene MIM:611312 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001960_3 | Eating disorders | 2.000000e-06 |
| GCST003180_3 | Atopic march | 9.000000e-11 |
| GCST007563_33 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-11 |
| GCST007564_24 | Asthma or allergic disease (pleiotropy) | 5.000000e-12 |
| GCST008916_75 | Asthma | 2.000000e-08 |
| GCST008916_82 | Asthma | 5.000000e-27 |
| GCST008916_88 | Asthma | 1.000000e-25 |
| GCST009798_76 | Asthma | 1.000000e-22 |
| GCST012462_1 | Asthma and eczema | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007755 | atopic march |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| sodium arsenite | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Aerosols | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Methotrexate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Cadmium Chloride | 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): allergic disease, atopic eczema, childhood onset asthma, eating disorder