KRT24
gene geneOn this page
Also known as FLJ20261MGC138169MGC138173
Summary
KRT24 (keratin 24, HGNC:18527) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 24 (Q2M2I5).
This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21.
Source: NCBI Gene 192666 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 89 total
- Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
- MANE Select transcript:
NM_019016
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18527 |
| Approved symbol | KRT24 |
| Name | keratin 24 |
| Location | 17q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20261, MGC138169, MGC138173 |
| Ensembl gene | ENSG00000167916 |
| Ensembl biotype | protein_coding |
| OMIM | 607742 |
| Entrez | 192666 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000264651
RefSeq mRNA: 1 — MANE Select: NM_019016
NM_019016
CCDS: CCDS11372
Canonical transcript exons
ENST00000264651 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721009 | 40698538 | 40698650 |
| ENSE00000721011 | 40699998 | 40700123 |
| ENSE00000721014 | 40700222 | 40700383 |
| ENSE00000863421 | 40699444 | 40699661 |
| ENSE00001271969 | 40701140 | 40701296 |
| ENSE00001271992 | 40697991 | 40698340 |
| ENSE00001272004 | 40703079 | 40703752 |
| ENSE00001801381 | 40701851 | 40701933 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 99.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.8655 / max 7785.7232, expressed in 63 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165799 | 6.8655 | 63 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amniotic fluid | UBERON:0000173 | 99.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.32 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.09 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.96 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.63 | silver quality |
| corpus epididymis | UBERON:0004359 | 90.86 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.98 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 86.75 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 86.67 | gold quality |
| periodontal ligament | UBERON:0008266 | 85.42 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 84.54 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.07 | gold quality |
| oral cavity | UBERON:0000167 | 83.04 | gold quality |
| squamous epithelium | UBERON:0006914 | 82.88 | gold quality |
| gingiva | UBERON:0001828 | 80.25 | gold quality |
| gingival epithelium | UBERON:0001949 | 79.79 | gold quality |
| mucosa of stomach | UBERON:0001199 | 79.72 | gold quality |
| sperm | CL:0000019 | 78.70 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 78.50 | gold quality |
| male germ cell | CL:0000015 | 76.89 | gold quality |
| rectum | UBERON:0001052 | 75.24 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 73.84 | gold quality |
| esophagus | UBERON:0001043 | 73.19 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.58 | gold quality |
| eye | UBERON:0000970 | 71.88 | gold quality |
| cervix epithelium | UBERON:0004801 | 71.75 | silver quality |
| seminal vesicle | UBERON:0000998 | 71.37 | gold quality |
| tonsil | UBERON:0002372 | 70.78 | gold quality |
| fundus of stomach | UBERON:0001160 | 70.27 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 70.20 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting KRT24, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
Functional genomics
ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 5)
- KRT24 encodes a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile; sequence aberrations were not found in Naegeli-Franceschetti-Jadassohn syndrome (PMID:12230514)
- K24 may be suggested as a potential differentiation marker and anti-proliferative factor in the epidermis. (PMID:28362807)
- the keratinocyte differentiation marker Keratin 24 is expressed in our dermo-epidermal skin substitutes in a normal pattern. This highlights that our bio-engineered skin analogs mature and reach homeostasis in an in vivo assay. (PMID:29039047)
- Relative gene expression analysis of human pterygium tissues and UV radiation-evoked gene expression patterns in corneal and conjunctival cells. (PMID:32822701)
- Identification of cytokeratin24 as a tumor suppressor for the management of head and neck cancer. (PMID:34450690)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt24 | ENSMUSG00000020913 |
| rattus_norvegicus | Krt24 | ENSRNOG00000010970 |
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), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), 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 I cytoskeletal 24 — Q2M2I5 (reviewed: Q2M2I5)
Alternative names: Cytokeratin-24, Keratin-24, Type I keratin-24
All UniProt accessions (1): Q2M2I5
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Heterotetramer of two type I and two type II keratins.
Tissue specificity. Highly expressed in keratinocytes, placenta, colon and spleen. Expressed at lower level in thymus and testis.
Induction. Up-regulated in the mucosa of patients suffering of colorectal cancer.
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.
RefSeq proteins (1): NP_061889* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002957 | Keratin_I | Family |
| IPR018039 | IF_conserved | Conserved_site |
| IPR039008 | IF_rod_dom | Domain |
Pfam: PF00038
UniProt features (20 total): region of interest 9, sequence variant 7, chain 1, domain 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2M2I5-F1 | 72.95 | 0.47 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6805567 | Keratinization |
| 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-9734767 | Developmental Cell Lineages |
MSigDB gene sets: 56 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, MODULE_151, CEBP_Q2, GOBP_TISSUE_MORPHOGENESIS, MODULE_114, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, RICKMAN_HEAD_AND_NECK_CANCER_E, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION, GOCC_SUPRAMOLECULAR_COMPLEX
GO Biological Process (3): morphogenesis of an epithelium (GO:0002009), epithelial cell differentiation (GO:0030855), intermediate filament organization (GO:0045109)
GO Molecular Function (3): structural constituent of skin epidermis (GO:0030280), structural molecule activity (GO:0005198), protein binding (GO:0005515)
GO Cellular Component (5): cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), extracellular exosome (GO:0070062), intermediate filament (GO:0005882)
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 |
|---|---|
| epithelium development | 2 |
| tissue morphogenesis | 1 |
| cell differentiation | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| structural molecule activity | 1 |
| molecular_function | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intermediate filament | 1 |
| extracellular vesicle | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
874 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT24 | MEOX1 | P50221 | 827 |
| KRT24 | ZNF219 | Q9P2Y4 | 430 |
| KRT24 | KRTAP13-2 | Q52LG2 | 408 |
| KRT24 | KRTAP19-6 | Q3LI70 | 380 |
| KRT24 | PIK3R5 | Q8WYR1 | 377 |
| KRT24 | C11orf86 | A6NJI1 | 375 |
| KRT24 | SPRR2F | Q96RM1 | 367 |
| KRT24 | SPRR2E | P22531 | 349 |
| KRT24 | GJA1 | P17302 | 330 |
| KRT24 | PLEKHH3 | Q7Z736 | 330 |
| KRT24 | HSPB9 | Q9BQS6 | 326 |
| KRT24 | SPRR2D | P22532 | 321 |
| KRT24 | SMCO2 | A6NFE2 | 320 |
| KRT24 | SPRR2A | P35326 | 315 |
| KRT24 | ACTC1 | P04270 | 313 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNAPIN | KRT24 | psi-mi:“MI:0915”(physical association) | 0.600 |
| KRT24 | KRT80 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT4 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | TRIML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | C1orf216 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | KRT71 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT8 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT5 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | CCDC146 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | KRT79 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT6C | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HGS | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT1 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | AARD | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | RCOR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT75 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BFSP2 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | TSGA10IP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODAD3 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | TCHP | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT3 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPH | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AMOT | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT72 | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT24 | ABI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TXLNA | KRT24 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (62): KRT24 (Two-hybrid), KRT24 (Affinity Capture-MS), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid), KRT24 (Two-hybrid)
ESM2 similar proteins: A1L317, A1L595, A5A6N2, A6BLY7, B1AQ75, E1AB55, O76013, P02533, P08730, P08779, P13646, P19012, Q0P5J4, Q0P5J6, Q0P5J7, Q148H5, Q148H6, Q148H8, Q2M2I5, Q3UV17, Q497I4, Q61414, Q61781, Q64291, Q6IFU7, Q6IFU8, Q6IFV1, Q6IFV3, Q6IFV4, Q6IFW6, Q6IFW8, Q6IFX0, Q6IFX1, Q6IFX2, Q6NXH9, Q6R649, Q6R650, Q7Z3Y7, Q7Z3Y8, Q7Z3Y9
Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6QQQ9, A7YWM2, B0LKP1, B1AQ75, O57607, O57611, O76009, O76013, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P19012, P25030, P25690, P35527
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the cornified envelope | 12 | 27.0× | 2e-12 |
| Keratinization | 12 | 17.1× | 2e-10 |
| Macroautophagy | 5 | 14.8× | 7e-04 |
| Neddylation | 11 | 13.4× | 2e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intermediate filament organization | 13 | 58.0× | 1e-17 |
| keratinization | 10 | 43.3× | 4e-12 |
| intrinsic apoptotic signaling pathway | 6 | 39.8× | 7e-07 |
| autophagosome maturation | 6 | 39.0× | 7e-07 |
| mitophagy | 6 | 35.3× | 1e-06 |
| G1/S transition of mitotic cell cycle | 6 | 22.3× | 1e-05 |
| autophagosome assembly | 5 | 20.8× | 2e-04 |
| protein ubiquitination | 7 | 5.4× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 7 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
969 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:40699442:AC:A | donor_gain | 1.0000 |
| 17:40699443:CC:C | donor_gain | 1.0000 |
| 17:40699446:T:A | donor_gain | 1.0000 |
| 17:40699452:T:A | donor_gain | 1.0000 |
| 17:40699489:T:TA | donor_gain | 1.0000 |
| 17:40699657:CTTTT:C | acceptor_gain | 1.0000 |
| 17:40699658:TTTT:T | acceptor_gain | 1.0000 |
| 17:40699659:TTT:T | acceptor_gain | 1.0000 |
| 17:40699660:TT:T | acceptor_gain | 1.0000 |
| 17:40699662:C:CC | acceptor_gain | 1.0000 |
| 17:40700122:CT:C | acceptor_gain | 1.0000 |
| 17:40700217:TCTA:T | donor_loss | 1.0000 |
| 17:40700218:CTA:C | donor_loss | 1.0000 |
| 17:40700219:TA:T | donor_loss | 1.0000 |
| 17:40700220:ACCT:A | donor_loss | 1.0000 |
| 17:40700221:C:T | donor_loss | 1.0000 |
| 17:40700221:CCTG:C | donor_gain | 1.0000 |
| 17:40700224:G:A | donor_gain | 1.0000 |
| 17:40700380:TTTC:T | acceptor_gain | 1.0000 |
| 17:40700381:TTC:T | acceptor_gain | 1.0000 |
| 17:40700382:TC:T | acceptor_gain | 1.0000 |
| 17:40700383:CC:C | acceptor_gain | 1.0000 |
| 17:40700384:C:CC | acceptor_gain | 1.0000 |
| 17:40700384:C:CG | acceptor_loss | 1.0000 |
| 17:40700388:CA:C | acceptor_gain | 1.0000 |
| 17:40700389:A:AC | acceptor_gain | 1.0000 |
| 17:40700389:A:C | acceptor_gain | 1.0000 |
| 17:40700389:A:T | acceptor_gain | 1.0000 |
| 17:40701136:CTACC:C | donor_loss | 1.0000 |
| 17:40701137:TACC:T | donor_loss | 1.0000 |
AlphaMissense
3411 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:40700253:C:G | R329P | 0.987 |
| 17:40700231:G:C | F336L | 0.982 |
| 17:40700231:G:T | F336L | 0.982 |
| 17:40700233:A:G | F336L | 0.982 |
| 17:40700285:C:A | R318S | 0.982 |
| 17:40700285:C:G | R318S | 0.982 |
| 17:40700017:A:G | L375P | 0.979 |
| 17:40700245:C:G | A332P | 0.976 |
| 17:40700298:A:G | L314P | 0.975 |
| 17:40700266:C:G | A325P | 0.970 |
| 17:40703242:A:G | L151S | 0.968 |
| 17:40701882:C:G | A223P | 0.967 |
| 17:40701296:C:A | K233N | 0.966 |
| 17:40701296:C:G | K233N | 0.966 |
| 17:40700286:C:G | R318T | 0.965 |
| 17:40701222:A:G | L258P | 0.964 |
| 17:40700044:C:G | R366P | 0.960 |
| 17:40703245:C:G | R150P | 0.960 |
| 17:40700012:A:G | S377P | 0.955 |
| 17:40700286:C:A | R318M | 0.952 |
| 17:40703240:C:G | A152P | 0.952 |
| 17:40700029:A:G | L371P | 0.951 |
| 17:40700050:A:G | L364P | 0.951 |
| 17:40700232:A:G | F336S | 0.950 |
| 17:40700310:A:G | L310P | 0.950 |
| 17:40701870:C:G | A227P | 0.949 |
| 17:40703204:C:G | A164P | 0.947 |
| 17:40703254:A:G | L147P | 0.947 |
| 17:40700268:A:G | L324P | 0.941 |
| 17:40701240:C:G | R252P | 0.938 |
dbSNP variants (sampled 300 via entrez): RS1000112551 (17:40698875 A>T), RS1000575503 (17:40694228 C>G), RS1001591765 (17:40702750 C>A), RS1001738220 (17:40701811 T>A), RS1001871686 (17:40704358 T>C), RS1001925647 (17:40704070 G>A), RS1001966932 (17:40696569 C>G,T), RS1002000288 (17:40702966 G>A), RS1002216630 (17:40697307 T>A,C), RS1003522876 (17:40699179 C>T), RS1003543035 (17:40705655 A>G), RS1003596800 (17:40705364 T>A), RS1003911783 (17:40697563 G>A,T), RS1004088996 (17:40702621 T>A), RS1004272576 (17:40701753 A>G,T)
Disease associations
OMIM: gene MIM:607742 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003075_26 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-07 |
| GCST003075_59 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-07 |
| GCST007563_12 | Allergic disease (asthma, hay fever or eczema) | 2.000000e-16 |
| GCST007564_26 | Asthma or allergic disease (pleiotropy) | 1.000000e-15 |
| GCST007798_120 | Asthma | 5.000000e-17 |
| GCST008916_33 | Asthma | 3.000000e-10 |
| GCST009798_41 | Asthma | 3.000000e-08 |
| GCST009798_47 | Asthma | 3.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| pyrogallol 1,3-dimethyl ether | increases expression, affects localization, decreases expression, affects cotreatment | 1 |
| butyraldehyde | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Furaldehyde | affects cotreatment, increases expression, affects localization, decreases expression | 1 |
| Sodium Chloride | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Lactic Acid | 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.