KRT78
gene geneOn this page
Also known as K5B
Summary
KRT78 (keratin 78, HGNC:28926) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 78 (Q8N1N4).
This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified.
Source: NCBI Gene 196374 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 117 total
- MANE Select transcript:
NM_173352
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28926 |
| Approved symbol | KRT78 |
| Name | keratin 78 |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | K5B |
| Ensembl gene | ENSG00000170423 |
| Ensembl biotype | protein_coding |
| OMIM | 611159 |
| Entrez | 196374 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000304620, ENST00000359499, ENST00000547110, ENST00000547920, ENST00000551581
RefSeq mRNA: 2 — MANE Select: NM_173352
NM_001300814, NM_173352
CCDS: CCDS73473, CCDS8840
Canonical transcript exons
ENST00000304620 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001153072 | 52839453 | 52839487 |
| ENSE00001266158 | 52848547 | 52848994 |
| ENSE00001298123 | 52844093 | 52844218 |
| ENSE00001312872 | 52837807 | 52839372 |
| ENSE00001659005 | 52839764 | 52839984 |
| ENSE00001799770 | 52844559 | 52844723 |
| ENSE00003553193 | 52847907 | 52848121 |
| ENSE00003643478 | 52846764 | 52846824 |
| ENSE00003684840 | 52846197 | 52846292 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 99.88.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5914 / max 662.1607, expressed in 51 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131168 | 1.4904 | 44 |
| 131170 | 0.0437 | 13 |
| 131166 | 0.0200 | 10 |
| 131169 | 0.0190 | 7 |
| 131167 | 0.0100 | 8 |
| 131165 | 0.0083 | 3 |
Top tissues by expression
229 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.88 | gold quality |
| buccal mucosa cell | CL:0002336 | 99.48 | gold quality |
| oral cavity | UBERON:0000167 | 98.75 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.45 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.44 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.94 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.85 | gold quality |
| skin of leg | UBERON:0001511 | 96.01 | gold quality |
| body of tongue | UBERON:0011876 | 95.22 | gold quality |
| gingiva | UBERON:0001828 | 95.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.64 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.87 | gold quality |
| zone of skin | UBERON:0000014 | 93.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.30 | gold quality |
| tongue | UBERON:0001723 | 90.89 | gold quality |
| superior surface of tongue | UBERON:0007371 | 86.48 | gold quality |
| penis | UBERON:0000989 | 86.04 | gold quality |
| mammalian vulva | UBERON:0000997 | 84.12 | gold quality |
| vagina | UBERON:0000996 | 82.89 | gold quality |
| upper leg skin | UBERON:0004262 | 82.23 | gold quality |
| tonsil | UBERON:0002372 | 81.29 | gold quality |
| esophagus | UBERON:0001043 | 80.55 | gold quality |
| skin of hip | UBERON:0001554 | 78.78 | gold quality |
| nipple | UBERON:0002030 | 78.65 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 78.33 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 75.55 | gold quality |
| sperm | CL:0000019 | 73.40 | gold quality |
| ectocervix | UBERON:0012249 | 70.83 | gold quality |
| mouth mucosa | UBERON:0003729 | 69.79 | gold quality |
| eye | UBERON:0000970 | 68.07 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8221 | yes | 8579.13 |
| E-ANND-3 | no | 2.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
62 targeting KRT78, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
Literature-anchored findings (GeneRIF, showing 1)
- K78 is strongly expressed in the basal and parabasal cell layers with decreasing intensity in the lower suprabasal cells of keratinising and non-keratinising squamous epithelia and keratinocyte cultures. (PMID:26340985)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Krt78 | ENSMUSG00000050463 |
| rattus_norvegicus | Krt78 | ENSRNOG00000059790 |
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), 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 78 — Q8N1N4 (reviewed: Q8N1N4)
Alternative names: Cytokeratin-78, Keratin-5b, Keratin-78, Type-II keratin Kb40
All UniProt accessions (2): Q8N1N4, H0YI54
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Heterotetramer of two type I and two type II keratins.
Tissue specificity. In non-keratinising esophageal and vaginal epithelium, strongly expressed in the basal and parabasal/lower suprabasal cell layers with considerably decreased expression in the mid/upper suprabasal layers (at protein level). A similar gradient from basal to lower suprabasal layers is seen in the partially keratinised dorsal tongue epithelium, in the scalp and in the plantar epidermis (at protein level). Extension of expression into the suprabasal compartments is distinctly more pronounced in non-keratinising epithelia than in keratinising epithelia and epidermis (at protein level). In scalp sections, present in the interfollicular epidermis and infundibulum including the entire outer root sheath of the hair follicles and also in the sebocytes (at protein level). In sweat glands, expressed in peripheral and luminal cells of the lower duct and in peripheral cells of the middle/upper duct with no expression observed in luminal cells (at protein level). In embryos at the 14th week of pregnancy, detected in basal and parabasal layers but is absent from the uppermost epidermal layer (at protein level). Expressed in tongue epithelium.
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 (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N1N4-1 | 1 | yes |
| Q8N1N4-2 | 2 |
RefSeq proteins (2): NP_001287743, NP_775487* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003054 | Keratin_II | Family |
| IPR018039 | IF_conserved | Conserved_site |
| IPR032444 | Keratin_2_head | Domain |
| IPR039008 | IF_rod_dom | Domain |
Pfam: PF00038, PF16208
UniProt features (18 total): region of interest 7, sequence variant 4, splice variant 2, sequence conflict 2, chain 1, domain 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N1N4-F1 | 71.93 | 0.48 |
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): 362 (stutter)
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: 64 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, TGANTCA_AP1_C, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, CP2_01, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, LIN_SILENCED_BY_TUMOR_MICROENVIRONMENT
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): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), 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 |
|---|---|
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| intermediate filament cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| structural molecule activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| intermediate filament | 1 |
| extracellular vesicle | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
1011 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRT78 | PDPN | Q86YL7 | 476 |
| KRT78 | CYSRT1 | A8MQ03 | 449 |
| KRT78 | RRM1 | P23921 | 441 |
| KRT78 | POLE | Q07864 | 441 |
| KRT78 | TYMS | P04818 | 439 |
| KRT78 | KRT72 | Q14CN4 | 426 |
| KRT78 | C20orf204 | A0A1B0GTL2 | 399 |
| KRT78 | SMIM5 | Q71RC9 | 396 |
| KRT78 | CRNN | Q9UBG3 | 388 |
| KRT78 | NDUFV2 | P19404 | 381 |
| KRT78 | PRMT1 | Q99873 | 371 |
| KRT78 | SPRR2E | P22531 | 370 |
| KRT78 | SPRR3 | Q9UBC9 | 370 |
| KRT78 | SCEL | O95171 | 358 |
| KRT78 | KRTAP3-1 | Q9BYR8 | 351 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KRT33B | KRT78 | psi-mi:“MI:0915”(physical association) | 0.630 |
| KRT78 | KRT35 | psi-mi:“MI:0915”(physical association) | 0.630 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| KRT27 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT36 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT25 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT15 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT78 | TRIM54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT14 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT19 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT16 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT39 | KRT78 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT78 | C14orf119 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP2R2B | DDX3X | psi-mi:“MI:0914”(association) | 0.460 |
| ABL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| WTAP | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| METTL14 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (102): KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Biochemical Activity), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Affinity Capture-MS), KRT78 (Two-hybrid)
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: A0A8C0N8E3, A0JND2, A3KN27, A4FUZ0, A5A6M6, A5A6M8, A5A6N0, A6QNX5, A6QQJ3, A7YWK3, E1AB55, O43790, O93532, O95678, P02538, P04104, P04259, P04264, P04265, P04266, P05786, P05787, P07744, P08670, P08729, P08776, P11679, P12035, P13647, P15241, P15331, P16878, P18520, P19013, P21807, P25691, P35908, P41219, P48616, P48668
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 61 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 | 26.4× | 4e-12 |
| Keratinization | 12 | 16.7× | 4e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 12 | 79.4× | 9e-18 |
| intermediate filament organization | 12 | 55.6× | 5e-16 |
| epithelial cell differentiation | 10 | 33.8× | 5e-11 |
| autophagy | 5 | 10.6× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
117 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 13 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1273 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:52839758:CCTCA:C | donor_loss | 1.0000 |
| 12:52839759:CTCA:C | donor_loss | 1.0000 |
| 12:52839760:TCAC:T | donor_loss | 1.0000 |
| 12:52839761:CAC:C | donor_loss | 1.0000 |
| 12:52839762:A:AC | donor_gain | 1.0000 |
| 12:52839762:A:C | donor_loss | 1.0000 |
| 12:52839763:C:CC | donor_gain | 1.0000 |
| 12:52839980:GCGTT:G | acceptor_gain | 1.0000 |
| 12:52839981:CGTT:C | acceptor_gain | 1.0000 |
| 12:52839981:CGTTC:C | acceptor_gain | 1.0000 |
| 12:52839983:TT:T | acceptor_gain | 1.0000 |
| 12:52839985:C:CC | acceptor_gain | 1.0000 |
| 12:52839986:T:A | acceptor_loss | 1.0000 |
| 12:52839992:CGGGG:C | acceptor_gain | 1.0000 |
| 12:52839993:G:T | acceptor_gain | 1.0000 |
| 12:52839996:G:C | acceptor_gain | 1.0000 |
| 12:52839996:G:GC | acceptor_gain | 1.0000 |
| 12:52844219:C:CC | acceptor_gain | 1.0000 |
| 12:52844580:AG:A | donor_gain | 1.0000 |
| 12:52844581:G:C | donor_gain | 1.0000 |
| 12:52844586:AG:A | donor_gain | 1.0000 |
| 12:52844719:AGCTC:A | acceptor_gain | 1.0000 |
| 12:52844721:CTC:C | acceptor_gain | 1.0000 |
| 12:52844722:TC:T | acceptor_gain | 1.0000 |
| 12:52844723:CC:C | acceptor_gain | 1.0000 |
| 12:52844723:CCTG:C | acceptor_loss | 1.0000 |
| 12:52844724:C:CC | acceptor_gain | 1.0000 |
| 12:52844725:T:C | acceptor_loss | 1.0000 |
| 12:52846107:C:A | donor_gain | 1.0000 |
| 12:52846178:C:A | donor_gain | 1.0000 |
AlphaMissense
3396 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:52846767:C:A | K219N | 0.953 |
| 12:52846767:C:G | K219N | 0.953 |
| 12:52848565:A:C | F122L | 0.949 |
| 12:52848565:A:T | F122L | 0.949 |
| 12:52848567:A:G | F122L | 0.949 |
| 12:52844582:C:G | A300P | 0.930 |
| 12:52844124:A:G | L339P | 0.919 |
| 12:52848566:A:G | F122S | 0.879 |
| 12:52848587:A:G | I115T | 0.877 |
| 12:52844145:A:G | L332P | 0.874 |
| 12:52844208:A:G | L311P | 0.865 |
| 12:52848566:A:C | F122C | 0.864 |
| 12:52848895:G:C | F12L | 0.864 |
| 12:52848895:G:T | F12L | 0.864 |
| 12:52848897:A:G | F12L | 0.864 |
| 12:52848102:T:G | Q135P | 0.863 |
| 12:52848556:G:C | F125L | 0.862 |
| 12:52848556:G:T | F125L | 0.862 |
| 12:52848558:A:G | F125L | 0.862 |
| 12:52846275:G:C | F226L | 0.861 |
| 12:52846275:G:T | F226L | 0.861 |
| 12:52846277:A:G | F226L | 0.861 |
| 12:52846218:G:C | F245L | 0.859 |
| 12:52846218:G:T | F245L | 0.859 |
| 12:52846220:A:G | F245L | 0.859 |
| 12:52844103:A:G | L346P | 0.855 |
| 12:52839823:C:A | K403N | 0.846 |
| 12:52839823:C:G | K403N | 0.846 |
| 12:52846779:A:C | F215L | 0.846 |
| 12:52846779:A:T | F215L | 0.846 |
dbSNP variants (sampled 300 via entrez): RS1000796199 (12:52839704 G>A,C), RS1001068331 (12:52844126 C>T), RS1001113238 (12:52837746 G>A), RS1001373091 (12:52850118 C>A), RS1001397543 (12:52845490 C>T), RS1001732508 (12:52840441 G>A,T), RS1001741924 (12:52846714 T>G), RS1002025733 (12:52846535 G>A,C), RS1002070489 (12:52845305 C>T), RS1002173907 (12:52844957 C>T), RS1002299132 (12:52850962 G>A), RS1002520075 (12:52839267 C>A,T), RS1002555292 (12:52843611 A>T), RS1002624009 (12:52847776 G>A,T), RS1002912973 (12:52843918 C>T)
Disease associations
OMIM: gene MIM:611159 | 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 |
|---|---|---|
| GCST006019_37 | Gamma glutamyl transferase levels | 7.000000e-09 |
| GCST90011899_17 | Aspartate aminotransferase levels | 2.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| terbufos | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| hydroquinone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| Allergens | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cadmium | affects binding | 1 |
| Diazinon | increases methylation | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Fonofos | increases methylation | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Parathion | increases methylation | 1 |
| Sodium Chloride | increases expression, affects cotreatment, decreases expression, affects localization | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| beta-Naphthoflavone | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Genistein | increases reaction, affects binding | 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.