KRT80
gene geneOn this page
Also known as KB20
Summary
KRT80 (keratin 80, HGNC:27056) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 80 (Q6KB66).
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene’s expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.
Source: NCBI Gene 144501 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 94 total
- MANE Select transcript:
NM_182507
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27056 |
| Approved symbol | KRT80 |
| Name | keratin 80 |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KB20 |
| Ensembl gene | ENSG00000167767 |
| Ensembl biotype | protein_coding |
| OMIM | 611161 |
| Entrez | 144501 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000313234, ENST00000394815, ENST00000466011
RefSeq mRNA: 2 — MANE Select: NM_182507
NM_001081492, NM_182507
CCDS: CCDS41784, CCDS8821
Canonical transcript exons
ENST00000394815 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001116720 | 52168996 | 52171522 |
| ENSE00001483454 | 52180513 | 52180608 |
| ENSE00001483459 | 52180903 | 52180963 |
| ENSE00001483465 | 52185379 | 52185587 |
| ENSE00003461804 | 52173038 | 52173163 |
| ENSE00003499509 | 52173600 | 52173764 |
| ENSE00003654267 | 52171658 | 52171713 |
| ENSE00003673883 | 52172198 | 52172418 |
| ENSE00003846194 | 52191603 | 52192014 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 98.09.
FANTOM5 (CAGE): breadth broad, TPM avg 29.9373 / max 1318.7522, expressed in 545 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131003 | 24.7217 | 490 |
| 131002 | 3.8893 | 405 |
| 131000 | 0.3738 | 149 |
| 131001 | 0.3618 | 213 |
| 206708 | 0.1501 | 76 |
| 131004 | 0.1368 | 81 |
| 130996 | 0.1001 | 57 |
| 130998 | 0.0859 | 45 |
| 130999 | 0.0808 | 35 |
| 130997 | 0.0370 | 22 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 98.09 | gold quality |
| upper arm skin | UBERON:0004263 | 97.65 | gold quality |
| skin of leg | UBERON:0001511 | 97.49 | gold quality |
| zone of skin | UBERON:0000014 | 97.11 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.91 | gold quality |
| upper leg skin | UBERON:0004262 | 95.52 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.04 | gold quality |
| skin of hip | UBERON:0001554 | 91.08 | gold quality |
| gingiva | UBERON:0001828 | 90.75 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.63 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.30 | gold quality |
| mammalian vulva | UBERON:0000997 | 89.33 | gold quality |
| penis | UBERON:0000989 | 89.28 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.19 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.46 | gold quality |
| oral cavity | UBERON:0000167 | 87.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.79 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 86.13 | gold quality |
| parotid gland | UBERON:0001831 | 85.91 | gold quality |
| mouth mucosa | UBERON:0003729 | 85.67 | gold quality |
| minor salivary gland | UBERON:0001830 | 85.39 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 85.16 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.26 | silver quality |
| tonsil | UBERON:0002372 | 82.84 | gold quality |
| nipple | UBERON:0002030 | 82.72 | gold quality |
| vagina | UBERON:0000996 | 82.16 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 81.85 | gold quality |
| pancreas | UBERON:0001264 | 79.17 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.43 | gold quality |
| sperm | CL:0000019 | 78.16 | silver quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 11.12 |
| E-ANND-3 | yes | 5.38 |
| E-CURD-10 | no | 532.88 |
| E-GEOD-86618 | no | 180.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
91 targeting KRT80, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
Literature-anchored findings (GeneRIF, showing 8)
- Alternative splice variants, K80 and K80.1 distribute differently in epithelia of hair and skin. (PMID:20843789)
- KRT80 was an independent prognostic biomarker for CRC and promoted CRC migration and invasion by interacting with PRKDC via activation of the AKT pathway. (PMID:30262880)
- Study demonstrated that the type II keratin topological associating domain undergoes epigenetic reprogramming in aromatase inhibitors-resistant ER-alpha positive breast cancer cells, leading to KRT80 upregulation. KRT80 expression is driven by de novo enhancer activation by SREBP1. KRT80 levels correlate with stiffer tumors and associates with poor survival in ER-alpha positive breast cancer patients. (PMID:31073170)
- MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80. (PMID:35748914)
- KRT80 expression works as a biomarker and a target for differentiation in gastric cancer. (PMID:37129345)
- Characters of KRT80 and its roles in neoplasms diseases. (PMID:37211956)
- LINC01485 contributes to colorectal cancer progression by targeting miR-383-5p/KRT80 axis. (PMID:37782686)
- The facilitating effects of KRT80 on chemoresistance, lipogenesis, and invasion of esophageal cancer. (PMID:38241178)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt80 | ENSMUSG00000037185 |
| rattus_norvegicus | Krt80 | ENSRNOG00000025994 |
Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)
Protein
Protein identifiers
Keratin, type II cytoskeletal 80 — Q6KB66 (reviewed: Q6KB66)
Alternative names: Cytokeratin-80, Keratin-80, Type-II keratin Kb20
All UniProt accessions (1): Q6KB66
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Heterotetramer of two type I and two type II keratins.
Tissue specificity. Weakly expressed in tongue, but not skin or in any other tissues or organs examined.
Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
Similarity. Belongs to the intermediate filament family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6KB66-1 | 1 | yes |
| Q6KB66-2 | 2 | |
| Q6KB66-3 | 3 |
RefSeq proteins (2): NP_001074961, NP_872313* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003054 | Keratin_II | Family |
| IPR039008 | IF_rod_dom | Domain |
Pfam: PF00038
UniProt features (18 total): region of interest 8, splice variant 3, modified residue 2, chain 1, domain 1, site 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6KB66-F1 | 76.93 | 0.56 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 334 (stutter)
Post-translational modifications (2): 45, 396
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6805567 | Keratinization |
| R-HSA-6809371 | Formation of the cornified envelope |
| R-HSA-1266738 | Developmental Biology |
MSigDB gene sets: 129 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GATA3_01, GOBP_EPIDERMIS_DEVELOPMENT, TGAGATT_MIR216, BASAKI_YBX1_TARGETS_UP, GOBP_KERATINIZATION, CERVERA_SDHB_TARGETS_1_UP, GOCC_CELL_CELL_JUNCTION
GO Biological Process (2): keratinization (GO:0031424), intermediate filament organization (GO:0045109)
GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), intermediate filament (GO:0005882), keratin filament (GO:0045095), intermediate filament cytoskeleton (GO:0045111)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
| Keratinization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| structural molecule activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intermediate filament | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
965 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT80 | TINCR | A0A2R8Y7D0 | 639 |
| KRT80 | CDSN | Q15517 | 532 |
| KRT80 | KRTAP3-1 | Q9BYR8 | 530 |
| KRT80 | TGM3 | Q08188 | 519 |
| KRT80 | KRTDAP | P60985 | 513 |
| KRT80 | CNFN | Q9BYD5 | 503 |
| KRT80 | SOWAHA | Q2M3V2 | 458 |
| KRT80 | PIERCE1 | Q5BN46 | 447 |
| KRT80 | STAU1 | O95793 | 408 |
| KRT80 | ALOX12B | O75342 | 400 |
| KRT80 | CFTR | P13569 | 386 |
| KRT80 | C11orf86 | A6NJI1 | 386 |
| KRT80 | CRNN | Q9UBG3 | 384 |
| KRT80 | MLANA | Q16655 | 384 |
| KRT80 | KRTAP15-1 | Q3LI76 | 367 |
| KRT80 | LCE2D | Q5TA82 | 367 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MEOX2 | KRT80 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT15 | KRT80 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT80 | KRT20 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT80 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT20 | KRT80 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT80 | KRT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| rep | KRT80 | psi-mi:“MI:0915”(physical association) | 0.490 |
| METTL14 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| RNLS | STATH | psi-mi:“MI:0914”(association) | 0.350 |
| STYX | BANF1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL2 | psi-mi:“MI:0914”(association) | 0.350 | |
| KRT80 | CYP17A1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULF2 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULF2 | IGHA1 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3BP | IGHV3-64D | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (70): KRT80 (Two-hybrid), KRT80 (Two-hybrid), KRT80 (Two-hybrid), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS), KRT80 (Affinity Capture-MS)
ESM2 similar proteins: A0JND2, A3KN27, A6BLY7, A6H712, A6QNX5, A6QQJ3, A7YWK3, D3ZER2, E1AB55, O76014, O76015, P08552, P15331, P21807, P35617, P41219, P46660, P48670, Q0VBK2, Q13515, Q148H5, Q148H6, Q148H8, Q14CN4, Q28177, Q3SY84, Q3TRJ4, Q6A162, Q6IFW3, Q6IFW8, Q6IFX0, Q6IFX4, Q6IFZ9, Q6IG04, Q6IME9, Q6IMF1, Q6KB66, Q6NVD9, Q6NXH9, Q7RTS7
Diamond homologs: A0A125S9M6, A0JND2, A4FUZ0, A5A6M8, A6NCN2, A7YWK3, O43790, P02542, P02545, P02547, P02548, P04104, P04260, P04261, P04262, P04263, P07196, P07744, P08551, P08928, P09010, P10999, P12035, P12036, P13647, P13648, P15241, P16884, P19013, P19246, P19527, P21619, P21910, P25691, P35908, P48671, P48672, P48678, P48679, P78385
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1251 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52172193:CTCA:C | donor_loss | 1.0000 |
| 12:52172194:TCAC:T | donor_loss | 1.0000 |
| 12:52172196:AC:A | donor_loss | 1.0000 |
| 12:52172197:CCT:C | donor_loss | 1.0000 |
| 12:52172223:T:TA | donor_gain | 1.0000 |
| 12:52172414:AGGCA:A | acceptor_gain | 1.0000 |
| 12:52172415:GGCA:G | acceptor_gain | 1.0000 |
| 12:52172416:GCA:G | acceptor_gain | 1.0000 |
| 12:52172417:CA:C | acceptor_gain | 1.0000 |
| 12:52172417:CAC:C | acceptor_gain | 1.0000 |
| 12:52172419:C:CC | acceptor_gain | 1.0000 |
| 12:52172419:C:CG | acceptor_loss | 1.0000 |
| 12:52172420:T:A | acceptor_loss | 1.0000 |
| 12:52172422:C:CT | acceptor_gain | 1.0000 |
| 12:52172423:A:T | acceptor_gain | 1.0000 |
| 12:52172426:C:CT | acceptor_gain | 1.0000 |
| 12:52172426:C:T | acceptor_gain | 1.0000 |
| 12:52172427:A:T | acceptor_gain | 1.0000 |
| 12:52173032:A:AC | donor_gain | 1.0000 |
| 12:52173033:C:CC | donor_gain | 1.0000 |
| 12:52173034:TCA:T | donor_loss | 1.0000 |
| 12:52173036:A:AC | donor_gain | 1.0000 |
| 12:52173037:C:CT | donor_gain | 1.0000 |
| 12:52173037:CA:C | donor_gain | 1.0000 |
| 12:52173037:CAT:C | donor_gain | 1.0000 |
| 12:52173037:CATG:C | donor_gain | 1.0000 |
| 12:52173037:CATGG:C | donor_gain | 1.0000 |
| 12:52173159:TCCAG:T | acceptor_gain | 1.0000 |
| 12:52173160:CCAG:C | acceptor_gain | 1.0000 |
| 12:52173160:CCAGC:C | acceptor_gain | 1.0000 |
AlphaMissense
2947 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52180906:C:A | K189N | 0.991 |
| 12:52180906:C:G | K189N | 0.991 |
| 12:52180940:C:G | R178P | 0.982 |
| 12:52173090:A:G | L302P | 0.978 |
| 12:52191621:A:C | F94L | 0.977 |
| 12:52191621:A:T | F94L | 0.977 |
| 12:52191623:A:G | F94L | 0.977 |
| 12:52180910:A:G | L188P | 0.974 |
| 12:52180924:G:C | F183L | 0.974 |
| 12:52180924:G:T | F183L | 0.974 |
| 12:52180926:A:G | F183L | 0.974 |
| 12:52173066:C:G | R310P | 0.973 |
| 12:52173069:A:G | L309P | 0.973 |
| 12:52173623:C:G | A270P | 0.971 |
| 12:52180604:A:G | L192P | 0.969 |
| 12:52180583:C:G | R199P | 0.968 |
| 12:52172355:C:G | A341P | 0.965 |
| 12:52185418:A:G | L157P | 0.962 |
| 12:52180574:A:G | L202P | 0.960 |
| 12:52180907:T:G | K189T | 0.960 |
| 12:52172270:A:G | L369P | 0.959 |
| 12:52172388:C:G | A330P | 0.959 |
| 12:52185385:C:G | R168P | 0.956 |
| 12:52173751:A:G | L227P | 0.954 |
| 12:52180918:A:C | F185L | 0.951 |
| 12:52180918:A:T | F185L | 0.951 |
| 12:52180920:A:G | F185L | 0.951 |
| 12:52185568:C:G | R107P | 0.947 |
| 12:52191622:A:C | F94C | 0.946 |
| 12:52173760:A:G | L224P | 0.945 |
dbSNP variants (sampled 300 via entrez): RS1000021514 (12:52181571 G>A), RS1000122956 (12:52186607 C>T), RS1000154114 (12:52186902 C>A), RS1000182835 (12:52190095 G>A,T), RS1000328087 (12:52192022 A>G), RS1000341502 (12:52170460 T>A,G), RS1000380979 (12:52170559 A>C), RS1000390758 (12:52184965 C>T), RS1000783541 (12:52191331 G>T), RS1000845820 (12:52192227 G>A,C), RS1000922609 (12:52173317 C>G), RS1001069909 (12:52191033 C>T), RS1001079608 (12:52178726 G>A), RS1001180759 (12:52190971 G>A), RS1001237460 (12:52188291 A>T)
Disease associations
OMIM: gene MIM:611161 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002341_2 | Telomere length | 7.000000e-06 |
| GCST002875_139 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST011739_7 | Cutaneous leishmaniasis | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| lead acetate | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, decreases expression, increases expression, affects cotreatment | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects cotreatment | 1 |
| pentanal | increases expression | 1 |
| polyhexamethyleneguanidine | affects expression | 1 |
| abrine | increases expression | 1 |
| archazolid B | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases 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): cutaneous leishmaniasis