KRT12
gene geneOn this page
Also known as K12
Summary
KRT12 (keratin 12, HGNC:6414) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 12 (Q99456). Involved in corneal epithelium organization, integrity and corneal keratin expression.
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy.
Source: NCBI Gene 3859 — RefSeq curated summary.
At a glance
- Gene–disease (curated): corneal dystrophy, Meesmann, 1 (Definitive, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 105 total — 8 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 7
- MANE Select transcript:
NM_000223
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6414 |
| Approved symbol | KRT12 |
| Name | keratin 12 |
| Location | 17q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | K12 |
| Ensembl gene | ENSG00000187242 |
| Ensembl biotype | protein_coding |
| OMIM | 601687 |
| Entrez | 3859 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000251643, ENST00000647902, ENST00000648126, ENST00000648535, ENST00000650597
RefSeq mRNA: 1 — MANE Select: NM_000223
NM_000223
CCDS: CCDS11378
Canonical transcript exons
ENST00000251643 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000395114 | 40863485 | 40863610 |
| ENSE00000721129 | 40862565 | 40862635 |
| ENSE00000721180 | 40863123 | 40863343 |
| ENSE00000721185 | 40863703 | 40863864 |
| ENSE00000721190 | 40864806 | 40864962 |
| ENSE00000863435 | 40861303 | 40861758 |
| ENSE00000863436 | 40866620 | 40867223 |
| ENSE00002359500 | 40866155 | 40866237 |
Expression profiles
Bgee: expression breadth broad, 83 present calls, max score 88.71.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1483 / max 194.9977, expressed in 21 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165842 | 0.1184 | 4 |
| 165841 | 0.0298 | 18 |
Top tissues by expression
105 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.71 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.96 | gold quality |
| neuron projection bundle connecting eye with brain | UBERON:0004904 | 79.16 | silver quality |
| eye | UBERON:0000970 | 73.42 | gold quality |
| duodenum | UBERON:0002114 | 61.96 | gold quality |
| transverse colon | UBERON:0001157 | 60.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 59.65 | gold quality |
| rectum | UBERON:0001052 | 58.56 | gold quality |
| small intestine | UBERON:0002108 | 58.28 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 58.25 | gold quality |
| zone of skin | UBERON:0000014 | 57.43 | gold quality |
| skin of leg | UBERON:0001511 | 55.64 | gold quality |
| intestine | UBERON:0000160 | 51.56 | gold quality |
| colon | UBERON:0001155 | 49.31 | gold quality |
| vagina | UBERON:0000996 | 48.83 | gold quality |
| ectocervix | UBERON:0012249 | 48.69 | gold quality |
| esophagus mucosa | UBERON:0002469 | 48.54 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 46.79 | gold quality |
| uterine cervix | UBERON:0000002 | 46.65 | gold quality |
| gall bladder | UBERON:0002110 | 46.33 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 44.32 | gold quality |
| sural nerve | UBERON:0015488 | 43.48 | silver quality |
| left uterine tube | UBERON:0001303 | 43.02 | gold quality |
| vermiform appendix | UBERON:0001154 | 42.64 | gold quality |
| urinary bladder | UBERON:0001255 | 42.48 | gold quality |
| endocervix | UBERON:0000458 | 42.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 41.89 | gold quality |
| endometrium | UBERON:0001295 | 41.33 | gold quality |
| fallopian tube | UBERON:0003889 | 41.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.42 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KLF6, PAX6
miRNA regulators (miRDB)
32 targeting KRT12, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-6796-3P | 98.68 | 65.49 | 689 |
| HSA-MIR-548AO-5P | 98.55 | 69.57 | 1362 |
| HSA-MIR-548AX | 98.55 | 69.58 | 1362 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
| HSA-MIR-618 | 97.62 | 67.46 | 861 |
| HSA-MIR-409-5P | 97.31 | 68.07 | 364 |
| HSA-MIR-134-5P | 97.11 | 66.52 | 976 |
| HSA-MIR-3118 | 97.11 | 66.58 | 984 |
| HSA-MIR-4714-5P | 97.04 | 67.76 | 955 |
Literature-anchored findings (GeneRIF, showing 16)
- Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann’s corneal dystrophy. (PMID:12543196)
- A novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. (PMID:16227835)
- Mutation in the KRT12 gene is associated with Meesmann corneal dystrophy (PMID:16352477)
- Mutation associated with symptomatic phenotype of Meesmann’s corneal dystrophy. Results in substitution of proline for arginine in helix termination motif that may disrupt normal helix, leading to dramatic structural change of keratin 12 protein. (PMID:17653038)
- This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic. (PMID:18245975)
- The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused Meesmann corneal dystrophy (MECD). (PMID:18661274)
- Novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann’s corneal dystrophy in a German family. (PMID:20577595)
- The Leu132Pro missense mutation is within the helix-initiation motif of the keratin and is predicted to result in a significant structural change of the K12 protein. (PMID:23222558)
- The lead siRNA, with an IC(50) of thirty picomolar, showed no keratin off-target effects or activation of TLR3 in the concentration ranges tested. (PMID:23233254)
- Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy. (PMID:23569037)
- We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. The in vivo confocal microscopy examinations revealed previously unreported depth-dependent ultrastructural changes in the living cornea. (PMID:24099278)
- Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals. (PMID:24801514)
- we show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression (PMID:26899008)
- KC can co-exist with GCD. The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD. (PMID:28567551)
- RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations. (PMID:29162348)
- We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity. (PMID:30535821)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt12 | ENSMUSG00000020912 |
| rattus_norvegicus | Krt12 | ENSRNOG00000011986 |
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), 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)
Protein
Protein identifiers
Keratin, type I cytoskeletal 12 — Q99456 (reviewed: Q99456)
Alternative names: Cytokeratin-12, Keratin-12
All UniProt accessions (2): A0A3B3ITG2, Q99456
UniProt curated annotations — full annotation on UniProt →
Function. Involved in corneal epithelium organization, integrity and corneal keratin expression.
Subunit / interactions. Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.
Tissue specificity. Expressed in the corneal epithelium (at protein level).
Disease relevance. Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
Similarity. Belongs to the intermediate filament family.
RefSeq proteins (1): NP_000214* (*=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 (36 total): sequence variant 23, region of interest 9, compositionally biased region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99456-F1 | 74.57 | 0.51 |
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: 109 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GGGTGGRR_PAX4_03, MARTINEZ_RB1_TARGETS_UP, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_SENSORY_PERCEPTION, GOBP_SENSORY_ORGAN_DEVELOPMENT, MODULE_287, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_TISSUE_MORPHOGENESIS, CHESLER_BRAIN_QTL_CIS
GO Biological Process (5): morphogenesis of an epithelium (GO:0002009), visual perception (GO:0007601), epithelial cell differentiation (GO:0030855), intermediate filament organization (GO:0045109), cornea development in camera-type eye (GO:0061303)
GO Molecular Function (2): structural molecule activity (GO:0005198), structural constituent of skin epidermis (GO:0030280)
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-2 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
| Keratinization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| epithelium development | 2 |
| tissue morphogenesis | 1 |
| sensory perception of light stimulus | 1 |
| cell differentiation | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| molecular_function | 1 |
| structural molecule activity | 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
854 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT12 | PAX6 | P26367 | 785 |
| KRT12 | KERA | O60938 | 680 |
| KRT12 | CRYZ | Q08257 | 595 |
| KRT12 | CHST6 | Q9GZX3 | 595 |
| KRT12 | FSHB | P01225 | 587 |
| KRT12 | ABCG2 | Q9UNQ0 | 575 |
| KRT12 | ALDH3A1 | P30838 | 549 |
| KRT12 | UBIAD1 | Q9Y5Z9 | 516 |
| KRT12 | DCDC1 | P59894 | 497 |
| KRT12 | MPPED2 | Q15777 | 497 |
| KRT12 | DNAJC24 | Q6P3W2 | 497 |
| KRT12 | ELP4 | Q96EB1 | 494 |
| KRT12 | ABCB5 | Q2M3G0 | 491 |
| KRT12 | EMX2 | Q04743 | 490 |
| KRT12 | MMP9 | P14780 | 489 |
IntAct
0 interactions, top by confidence:
BioGRID (22): KRT12 (Affinity Capture-MS), KRT12 (Affinity Capture-MS), KRT12 (Affinity Capture-MS), KRT12 (Affinity Capture-MS), KRT12 (Cross-Linking-MS (XL-MS)), KRT84 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS)), KRT12 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A8C0N8E3, A6QQQ9, O62654, P02540, P02541, P02542, P02543, P02544, P03995, P05784, P08552, P08670, P09654, P14136, P17661, P20152, P23239, P23729, P24789, P24790, P25030, P31000, P31001, P31393, P35617, P35900, P47819, P48616, P48670, P48673, P48674, P48675, P48676, P48677, P84198, Q04948, Q28115, Q28706, Q4R4X4, Q58EE9
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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 1 |
| Uncertain significance | 58 |
| Likely benign | 10 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 254686 | NM_000223.4(KRT12):c.395T>C (p.Leu132Pro) | Pathogenic |
| 7921 | NM_000223.4(KRT12):c.404G>C (p.Arg135Thr) | Pathogenic |
| 7922 | NM_000223.4(KRT12):c.427G>C (p.Val143Leu) | Pathogenic |
| 7923 | NM_000223.4(KRT12):c.403A>G (p.Arg135Gly) | Pathogenic |
| 7924 | NM_000223.4(KRT12):c.404G>T (p.Arg135Ile) | Pathogenic |
| 7925 | NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp) | Pathogenic |
| 7926 | NM_000223.4(KRT12):c.419T>G (p.Leu140Arg) | Pathogenic |
| 7927 | NM_000223.4(KRT12):c.386T>C (p.Met129Thr) | Pathogenic |
| 66124 | NM_000223.4(KRT12):c.399T>G (p.Asn133Lys) | Likely pathogenic |
SpliceAI
630 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:40861759:C:CC | acceptor_gain | 1.0000 |
| 17:40862636:C:CC | acceptor_gain | 1.0000 |
| 17:40863118:CTCAC:C | donor_loss | 1.0000 |
| 17:40863120:CACCC:C | donor_loss | 1.0000 |
| 17:40863121:A:AC | donor_gain | 1.0000 |
| 17:40863121:AC:A | donor_gain | 1.0000 |
| 17:40863122:C:CC | donor_gain | 1.0000 |
| 17:40863122:C:CT | donor_loss | 1.0000 |
| 17:40863122:CC:C | donor_gain | 1.0000 |
| 17:40863862:CTC:C | acceptor_gain | 1.0000 |
| 17:40863863:TC:T | acceptor_gain | 1.0000 |
| 17:40863864:CC:C | acceptor_gain | 1.0000 |
| 17:40863864:CCTG:C | acceptor_loss | 1.0000 |
| 17:40863865:CT:C | acceptor_loss | 1.0000 |
| 17:40863872:CAGCA:C | acceptor_gain | 1.0000 |
| 17:40863873:A:T | acceptor_gain | 1.0000 |
| 17:40863875:CATG:C | acceptor_gain | 1.0000 |
| 17:40863876:A:AC | acceptor_gain | 1.0000 |
| 17:40863876:A:C | acceptor_gain | 1.0000 |
| 17:40863878:G:C | acceptor_gain | 1.0000 |
| 17:40864777:G:C | donor_gain | 1.0000 |
| 17:40864791:C:A | donor_gain | 1.0000 |
| 17:40864800:A:AC | donor_gain | 1.0000 |
| 17:40864801:C:CC | donor_gain | 1.0000 |
| 17:40864802:TCACA:T | donor_loss | 1.0000 |
| 17:40864803:CA:C | donor_loss | 1.0000 |
| 17:40864804:A:AC | donor_gain | 1.0000 |
| 17:40864804:ACAT:A | donor_gain | 1.0000 |
| 17:40864804:ACATC:A | donor_gain | 1.0000 |
| 17:40864805:C:CT | donor_gain | 1.0000 |
AlphaMissense
3207 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:40863734:C:G | R313P | 0.990 |
| 17:40863712:G:C | F320L | 0.987 |
| 17:40863712:G:T | F320L | 0.987 |
| 17:40863714:A:G | F320L | 0.987 |
| 17:40863726:C:G | A316P | 0.986 |
| 17:40866780:A:G | L136S | 0.985 |
| 17:40863767:C:G | R302P | 0.982 |
| 17:40863747:C:G | A309P | 0.979 |
| 17:40863779:A:G | L298P | 0.979 |
| 17:40864867:A:G | L249P | 0.978 |
| 17:40863504:A:G | L359P | 0.975 |
| 17:40864888:A:G | L242P | 0.975 |
| 17:40866630:A:G | L186P | 0.974 |
| 17:40866186:C:G | A207P | 0.971 |
| 17:40864846:A:G | L256P | 0.970 |
| 17:40866792:A:G | L132P | 0.970 |
| 17:40866742:C:G | A149P | 0.969 |
| 17:40863791:A:G | L294P | 0.968 |
| 17:40863779:A:T | L298H | 0.966 |
| 17:40866789:T:A | N133I | 0.966 |
| 17:40866174:C:G | A211P | 0.965 |
| 17:40863537:A:G | L348P | 0.963 |
| 17:40863713:A:G | F320S | 0.962 |
| 17:40863746:G:T | A309D | 0.959 |
| 17:40864834:A:G | L260P | 0.959 |
| 17:40866778:C:G | A137P | 0.959 |
| 17:40863600:A:G | L327P | 0.957 |
| 17:40866168:C:G | D213H | 0.956 |
| 17:40866717:A:G | I157T | 0.956 |
| 17:40863499:A:G | S361P | 0.955 |
dbSNP variants (sampled 300 via entrez): RS1000223938 (17:40867265 T>A,C), RS1000676401 (17:40864614 C>A), RS1001683072 (17:40862703 T>G), RS1002117412 (17:40862298 C>A,G,T), RS1002679296 (17:40867795 T>C), RS1002755663 (17:40866272 C>A), RS1004340387 (17:40864212 A>G), RS1004672070 (17:40866066 C>T), RS1004873071 (17:40865738 G>T), RS1005708920 (17:40865600 C>T), RS1005719550 (17:40862152 T>C), RS1006047545 (17:40867371 T>C), RS1006313872 (17:40868682 T>C), RS1006350175 (17:40867593 T>A,C), RS1006834139 (17:40861782 G>A,C)
Disease associations
OMIM: gene MIM:601687 | disease phenotypes: MIM:122100
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| corneal dystrophy, Meesmann, 1 | Definitive | Autosomal dominant |
| Meesmann corneal dystrophy | Supportive | Autosomal dominant |
Mondo (2): corneal dystrophy, Meesmann, 1 (MONDO:0020791), Meesmann corneal dystrophy (MONDO:0007379)
Orphanet (1): Meesmann corneal dystrophy (Orphanet:98954)
HPO phenotypes
7 total (7 of 7 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000613 | Photophobia |
| HP:0001131 | Corneal dystrophy |
| HP:0003680 | Nonprogressive |
| HP:0007663 | Reduced visual acuity |
| HP:0007856 | Punctate opacification of the cornea |
| HP:0009926 | Epiphora |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053559 | Corneal Dystrophy, Juvenile Epithelial of Meesmann | C11.204.236.218; C11.270.162.218; C16.320.290.162.204 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, decreases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Lipopolysaccharides | decreases expression, decreases reaction | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: corneal dystrophy, Meesmann, 1, Meesmann corneal dystrophy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): corneal dystrophy, Meesmann, 1, Meesmann corneal dystrophy