GKN1
gene geneOn this page
Also known as AMP18CA11BRICD1
Summary
GKN1 (gastrokine 1, HGNC:23217) is a protein-coding gene on chromosome 2p13.3, encoding Gastrokine-1 (Q9NS71). Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium.
The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa.
Source: NCBI Gene 56287 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 65 total
- MANE Select transcript:
NM_019617
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23217 |
| Approved symbol | GKN1 |
| Name | gastrokine 1 |
| Location | 2p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AMP18, CA11, BRICD1 |
| Ensembl gene | ENSG00000169605 |
| Ensembl biotype | protein_coding |
| OMIM | 606402 |
| Entrez | 56287 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000377938, ENST00000478888, ENST00000673932
RefSeq mRNA: 1 — MANE Select: NM_019617
NM_019617
CCDS: CCDS1891
Canonical transcript exons
ENST00000377938 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130072 | 68980729 | 68980976 |
| ENSE00001165175 | 68979913 | 68980060 |
| ENSE00001165183 | 68978871 | 68978981 |
| ENSE00001165189 | 68977637 | 68977774 |
| ENSE00003668213 | 68977495 | 68977548 |
| ENSE00003898475 | 68974636 | 68974689 |
Expression profiles
Bgee: expression breadth ubiquitous, 146 present calls, max score 99.66.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.1428 / max 9708.9428, expressed in 25 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20739 | 6.1428 | 25 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 99.66 | gold quality |
| pylorus | UBERON:0001166 | 99.55 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.63 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.58 | gold quality |
| body of stomach | UBERON:0001161 | 94.02 | gold quality |
| stomach | UBERON:0000945 | 91.79 | gold quality |
| fundus of stomach | UBERON:0001160 | 90.75 | gold quality |
| decidua | UBERON:0002450 | 83.44 | gold quality |
| left adrenal gland | UBERON:0001234 | 69.40 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 69.29 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 69.09 | gold quality |
| right adrenal gland | UBERON:0001233 | 68.48 | gold quality |
| adrenal cortex | UBERON:0001235 | 67.12 | gold quality |
| placenta | UBERON:0001987 | 66.30 | gold quality |
| pancreatic ductal cell | CL:0002079 | 65.40 | silver quality |
| adrenal gland | UBERON:0002369 | 63.36 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 63.32 | silver quality |
| left uterine tube | UBERON:0001303 | 62.78 | gold quality |
| right lung | UBERON:0002167 | 62.20 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 61.66 | silver quality |
| endocervix | UBERON:0000458 | 61.03 | gold quality |
| ectocervix | UBERON:0012249 | 60.25 | gold quality |
| right coronary artery | UBERON:0001625 | 59.61 | gold quality |
| body of pancreas | UBERON:0001150 | 59.12 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 57.81 | gold quality |
| right uterine tube | UBERON:0001302 | 57.31 | gold quality |
| esophagus mucosa | UBERON:0002469 | 55.94 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 55.08 | gold quality |
| pancreas | UBERON:0001264 | 55.03 | gold quality |
| urinary bladder | UBERON:0001255 | 54.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.27 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NKX6-3
miRNA regulators (miRDB)
17 targeting GKN1, 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-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-325 | 99.58 | 66.55 | 358 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
Literature-anchored findings (GeneRIF, showing 40)
- AMP-18 could protect the intestinal mucosal barrier by acting on specific tight junction proteins and stabilizing perijunctional actin (PMID:15961882)
- study demonstrated the presence of gastrokine-1 isoforms of which the basic isoform was reduced in a subset of patients with H. pylori infection. (PMID:17092786)
- GKN1 and GKN2 expression occurs frequently in gastric adenocarcinomas, especially in the diffuse subtype (PMID:18593995)
- GKN1 expression is related to the inflammatory damage of gastric mucosa and could be the related to the gastric cellular phenotype. (PMID:18927498)
- GKN1 inhibits gastric cancer cell proliferation. (PMID:21751384)
- GKN1 modulates apoptotic signals and might play an important role for tissue repair during the early stages of neoplastic transformation. (PMID:21792914)
- The GKN1 gene may play an important role in the progression of sporadic gastric cancers via inhibition of EMT and cancer cell migration (PMID:21898090)
- Expression of GKN1 is progressively lost from normal mucosa, precancerous to cancerous gastric tissues, while restoration of GKN1 expression induces gastric cancer cells to undergo apoptosis. (PMID:22621392)
- Both Helicobacter pylori infection and long-term non-steroidal anti-inflammatory drug administration downregulate gastrokine-1 expression in the gastric mucosa, which may contribute to the gastric mucosal injuries induced by these two factors. (PMID:22798109)
- There is no direct molecular interaction between GKN1 and TFF1 in protein level in gastric cancer. (PMID:22842654)
- Low expression of gastrokine 1 is associated with gastric cancer. (PMID:23317277)
- Molecular and functional properties of human GKN1 indicate a more significant propensity for beta-sheet structures. (PMID:23319233)
- the GKN1 gene may inhibit progression of gastric epithelial cells to cancer cells by regulating NF-kappaB signaling pathway and cytokine expression. (PMID:23444260)
- Low GKN1 activity is associated with gastric cancers. (PMID:23812904)
- Our results show that GKN1 has an miR-185-dependent and -independent mechanism for chromatic and DNA epigenetic modification, thereby regulating the cell cycle (PMID:23846337)
- Data suggest GKN1 is expressed in placental trophoblasts in third trimester (not first); GKN1 expression is limited to extravillous trophoblasts. GKN1 expression is downregulated in choriocarcinoma; GKN1 attenuates migration of choriocarcinoma cells. (PMID:23993393)
- these results suggest that the NH2-terminal hydrophobic region and BRICHOS domain of GKN1 are sufficient for its tumor suppressor activities. (PMID:24099765)
- These data demonstrate that in the presence of GKN2, GKN1 loses its ability to decrease cell proliferation, induce apoptosis, and inhibit epigenetic alterations in gastric cancer cells. (PMID:24151046)
- Epstein-Barr virus EBNA1 binds to the divergent promoter of the GKN1 and GKN2 genes and contributes to the complex transcriptional and epigenetic deregulation of the GKN1 and GKN2 tumor suppressor genes. (PMID:24460791)
- Data show that recombinant gastrokine 1 (GKN1) interacts with amyloid-beta peptide (1-40) preventing its aggregation. (PMID:25139219)
- These results suggest that GKN1 might be a target to inhibit the effects from H.pylori CagA. (PMID:25239641)
- GKN1 may shorten telomeres by acting as a potential c-myc inhibitor that eventually leads to senescence and apoptosis in gastric cancer cells (PMID:25344918)
- GKN1 expression in the gastric mucosa of gastric cancer patients is decreased; this is associated with progression and prognosis of gastric cancer. (PMID:25469040)
- GKN1 inhibits metastasis in gastric cancer cells. (PMID:25725220)
- GKN1 may contribute to the maintenance of gastric epithelial homeostasis and inhibit gastric carcinogenesis by down-regulating the gastrin-cholecystokinin B receptor signaling pathway. (PMID:25752269)
- AMP-18 appears to act through PI3K/AKT pathways to increase p21 phosphorylation, thereby reducing its nuclear accumulation to overcome the antiproliferative effects of TNF-alpha. (PMID:25919700)
- Results suggest a potential association between CRP and GPC5 variants with lung cancer risk; variation in GKN1 is associated with chemotherapy response in the Chinese Han population. (PMID:25999661)
- Gastrokine 1 indirectly participates in actin stabilization since its overexpression in gastric cancer cells strongly increases the expression of tight and adherens junction proteins (PMID:26008777)
- Low GKN1 expression is associated with gastric cancer. (PMID:27250838)
- These results did not confirm GKN1 as a potential biomarker for gastric cancer. (PMID:27452910)
- Data show that ubiquitin protein ligase E3 component n-recognin 5 protein (UBR5) bound the tumor suppressor gastrokine 1 (GKN1) and increased its ubiquitination to reduce the protein stability of GKN1. (PMID:27590582)
- The GKN1 is secreted and internalized in the gastric epithelium by exosome-driven transfer, which inhibits gastric tumorigenesis and supports the clinical application of GKN1 protein in gastric cancer diagnosis and treatment. (PMID:29704153)
- Changes in the expressions of SOX9 and GKN1 may be associated with the malignant biological behavior of gastric cancer. (PMID:31282324)
- K14-high cells contribute to lung cancer metastasis potentially through inhibition of anoikis via upregulation of Gkn1. (PMID:31320708)
- GKN1 plays an important role in the maintenance of gastric homeostasis. In inflamed mucosa, both with and without H. pylori infection, GKN1 levels decrease, while the protein is absent in gastric cancer. The measurement of circulating GKN1 concentration, the protein itself or its mRNA in gastric tissue could be useful for the early diagnosis of cancer. [review] (PMID:31322194)
- The diagnostic value of serum gastrokine 1 (GKN1) protein in gastric cancer. (PMID:31376239)
- The up-regulation of miR-544a could be crucially involved in the GKN1 translational repression, thus suggesting its potential role as a biomarker and therapeutic target in gastric cancer patients. (PMID:31509760)
- AUF1 knockdown resulted in upregulation of GKN1 expression and promoted GKN1 mRNA decay by binding the 3’ untranslated region of GKN1 mRNA H. pylori-induced AUF1 expression was associated with p-ERK activation and CagA. (PMID:31657090)
- Women with chronic follicular gastritis positive for Helicobacter pylori express lower levels of GKN1. (PMID:32086651)
- Uptake and tumor-suppressive pathways of exosome-associated GKN1 protein in gastric epithelial cells. (PMID:32291710)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gkn1 | ENSMUSG00000030050 |
| rattus_norvegicus | Gkn1 | ENSRNOG00000008838 |
Paralogs (2): BRICD5 (ENSG00000182685), GKN2 (ENSG00000183607)
Protein
Protein identifiers
Gastrokine-1 — Q9NS71 (reviewed: Q9NS71)
Alternative names: 18 kDa antrum mucosa protein, Protein CA11
All UniProt accessions (3): A0A8I5KHR1, Q53YU7, Q9NS71
UniProt curated annotations — full annotation on UniProt →
Function. Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium.
Subcellular location. Secreted. Cytoplasmic granule. Golgi apparatus.
Tissue specificity. Expressed in stomach (at protein level). No expression is detected in cancer tissue or gastric cancer cell lines.
Similarity. Belongs to the gastrokine family.
RefSeq proteins (1): NP_062563* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007084 | BRICHOS_dom | Domain |
| IPR051772 | Gastrokine | Family |
Pfam: PF04089
UniProt features (5 total): signal peptide 1, chain 1, domain 1, disulfide bond 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS71-F1 | 83.16 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 81–142
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 178 (showing top):
GOBP_DIGESTION, RRAGTTGT_UNKNOWN, WANG_CLIM2_TARGETS_UP, TGCGCANK_UNKNOWN, GOMF_CARBONATE_DEHYDRATASE_ACTIVITY, GOCC_SECRETORY_GRANULE, GOMF_GROWTH_FACTOR_ACTIVITY, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, MODULE_66, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, AP1_Q4_01, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, BACH2_01
GO Biological Process (5): digestion (GO:0007586), positive regulation of cell population proliferation (GO:0008284), regulation of cell population proliferation (GO:0042127), positive regulation of cell division (GO:0051781), signal transduction (GO:0007165)
GO Molecular Function (2): growth factor activity (GO:0008083), protein binding (GO:0005515)
GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), secretory granule (GO:0030141), cytoplasm (GO:0005737), endomembrane system (GO:0012505)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell population proliferation | 2 |
| positive regulation of cellular process | 2 |
| regulation of cellular process | 2 |
| endomembrane system | 2 |
| multicellular organismal process | 1 |
| regulation of cell population proliferation | 1 |
| cell division | 1 |
| regulation of cell division | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| secretory vesicle | 1 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GKN1 | CAPN9 | O14815 | 941 |
| GKN1 | MUC6 | Q6W4X9 | 615 |
| GKN1 | TFF2 | Q03403 | 541 |
| GKN1 | LIPF | P07098 | 517 |
| GKN1 | GCNT4 | Q9P109 | 508 |
| GKN1 | A4GNT | Q9UNA3 | 500 |
| GKN1 | UQCC4 | Q4G0I0 | 485 |
| GKN1 | TFF1 | P04155 | 483 |
| GKN1 | CBLIF | P27352 | 448 |
| GKN1 | ATP4B | P51164 | 446 |
| GKN1 | VSIG1 | Q86XK7 | 416 |
| GKN1 | TFF3 | Q07654 | 412 |
| GKN1 | TSC22D2 | O75157 | 411 |
| GKN1 | MUC5AC | P98088 | 406 |
| GKN1 | PGC | P20142 | 396 |
IntAct
50 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SERP2 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | VAPA | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMCO4 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | UBE2J1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP6 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFF | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | TREX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM179B | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | GLE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | NUP58 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| GKN1 | CDC27 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GKN1 | TMOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SERP2 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UBE2J1 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLPP6 | GKN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (37): UBR5 (Affinity Capture-Western), GKN1 (Affinity Capture-Western), C6orf58 (Affinity Capture-MS), LYZL1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), PIGR (Affinity Capture-MS), CST4 (Affinity Capture-MS), ZG16B (Affinity Capture-MS), MUC7 (Affinity Capture-MS), IGHA1 (Affinity Capture-MS), GKN1 (Two-hybrid), GKN1 (Two-hybrid), GKN1 (Two-hybrid), GKN1 (Two-hybrid)
ESM2 similar proteins: A1A535, A2VDN0, A5A6H8, A8E7C5, A9ULX8, B5DFM7, E9Q9F6, F6UF99, O18638, O42204, O43736, O89051, P0DP43, P10379, P58239, P91682, Q06AV4, Q06BR2, Q10651, Q14D04, Q29TV8, Q3T0P7, Q4R540, Q52N47, Q5NVC3, Q5PQL7, Q5PQS3, Q5R876, Q5SC59, Q5SC60, Q5SY80, Q5XIE8, Q60HC1, Q61500, Q6GPK2, Q86XM0, Q86XP6, Q8HYA9, Q8IZ07, Q90372
Diamond homologs: D2XPP7, P0CG01, Q9CQS6, Q9CR36, Q9D0T7, Q9NS71, Q8HYA9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NKX6-3 | “up-regulates quantity by expression” | GKN1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
525 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:68974690:G:GG | donor_gain | 1.0000 |
| 2:68977627:T:G | acceptor_gain | 1.0000 |
| 2:68977628:A:AG | acceptor_gain | 1.0000 |
| 2:68977629:A:G | acceptor_gain | 1.0000 |
| 2:68977635:A:AG | acceptor_gain | 1.0000 |
| 2:68977636:G:GA | acceptor_gain | 1.0000 |
| 2:68977636:GA:G | acceptor_gain | 1.0000 |
| 2:68977770:GAAAT:G | donor_gain | 1.0000 |
| 2:68977773:AT:A | donor_gain | 1.0000 |
| 2:68977775:G:GG | donor_gain | 1.0000 |
| 2:68977776:T:TC | donor_loss | 1.0000 |
| 2:68978931:G:GT | donor_gain | 1.0000 |
| 2:68978979:AAGG:A | donor_loss | 1.0000 |
| 2:68978980:AGGT:A | donor_loss | 1.0000 |
| 2:68978981:GGTAA:G | donor_loss | 1.0000 |
| 2:68978982:GT:G | donor_loss | 1.0000 |
| 2:68978983:T:G | donor_loss | 1.0000 |
| 2:68979893:C:G | acceptor_gain | 1.0000 |
| 2:68979905:A:AG | acceptor_gain | 1.0000 |
| 2:68979906:C:G | acceptor_gain | 1.0000 |
| 2:68979907:A:AG | acceptor_gain | 1.0000 |
| 2:68979908:C:G | acceptor_gain | 1.0000 |
| 2:68979911:A:AG | acceptor_gain | 1.0000 |
| 2:68979912:G:GA | acceptor_gain | 1.0000 |
| 2:68979912:GC:G | acceptor_gain | 1.0000 |
| 2:68979912:GCTTC:G | acceptor_gain | 1.0000 |
| 2:68980056:GCAAG:G | donor_gain | 1.0000 |
| 2:68980057:CAAGG:C | donor_loss | 1.0000 |
| 2:68980058:AAGG:A | donor_loss | 1.0000 |
| 2:68980059:AGGT:A | donor_loss | 1.0000 |
AlphaMissense
1333 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:68980021:T:A | C156S | 0.991 |
| 2:68980022:G:C | C156S | 0.991 |
| 2:68978907:T:A | C95S | 0.990 |
| 2:68978908:G:C | C95S | 0.990 |
| 2:68978907:T:C | C95R | 0.989 |
| 2:68978909:C:G | C95W | 0.988 |
| 2:68978908:G:A | C95Y | 0.986 |
| 2:68977716:C:A | A63D | 0.982 |
| 2:68977760:T:A | W78R | 0.982 |
| 2:68977760:T:C | W78R | 0.982 |
| 2:68980023:T:G | C156W | 0.982 |
| 2:68980021:T:C | C156R | 0.981 |
| 2:68977754:T:C | S76P | 0.979 |
| 2:68978908:G:T | C95F | 0.978 |
| 2:68980022:G:A | C156Y | 0.978 |
| 2:68977715:G:C | A63P | 0.977 |
| 2:68977750:G:C | W74C | 0.974 |
| 2:68977750:G:T | W74C | 0.974 |
| 2:68978878:C:A | A85D | 0.974 |
| 2:68980800:T:A | C193S | 0.973 |
| 2:68980801:G:C | C193S | 0.973 |
| 2:68977748:T:A | W74R | 0.972 |
| 2:68977748:T:C | W74R | 0.972 |
| 2:68978914:T:A | V97E | 0.972 |
| 2:68978880:G:C | A86P | 0.971 |
| 2:68978877:G:C | A85P | 0.967 |
| 2:68979958:T:G | Y135D | 0.967 |
| 2:68980001:G:T | G149V | 0.965 |
| 2:68977722:T:A | V65D | 0.963 |
| 2:68978907:T:G | C95G | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000217564 (2:68975341 G>A), RS1000366551 (2:68976306 ACTT>A), RS1000407325 (2:68973765 T>C), RS1000697969 (2:68974976 T>C), RS1001391408 (2:68978384 G>C), RS1001431795 (2:68978718 G>T), RS1001659678 (2:68975597 C>A), RS1001691096 (2:68975442 G>A), RS1002027794 (2:68974119 T>C), RS1002481619 (2:68980384 C>T), RS1003013539 (2:68977033 T>C), RS1003517956 (2:68973305 A>G), RS1003702720 (2:68972894 C>G), RS1003757408 (2:68979028 A>C,G), RS1003957008 (2:68973030 T>C)
Disease associations
OMIM: gene MIM:606402 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000847_1 | Retinal vascular caliber | 2.000000e-25 |
| GCST001241_6 | Bipolar disorder | 3.000000e-06 |
| GCST001808_2 | Tumor biomarkers | 8.000000e-176 |
| GCST002485_11 | Elevated serum carcinoembryonic antigen levels | 5.000000e-12 |
| GCST004613_76 | Sum neutrophil eosinophil counts | 4.000000e-13 |
| GCST004614_78 | Granulocyte count | 3.000000e-13 |
| GCST004620_40 | Sum basophil neutrophil counts | 5.000000e-13 |
| GCST004629_47 | Neutrophil count | 6.000000e-13 |
| GCST004632_25 | Lymphocyte percentage of white cells | 3.000000e-16 |
| GCST004633_13 | Neutrophil percentage of white cells | 1.000000e-15 |
| GCST006585_2992 | Blood protein levels | 1.000000e-07 |
| GCST010134_4 | Non-oily fish consumption | 3.000000e-16 |
| GCST010135_4 | Oily fish consumption | 2.000000e-16 |
| GCST010140_48 | Pork consumption | 2.000000e-16 |
| GCST90002404_538 | Red cell distribution width | 3.000000e-09 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004731 | eye measurement |
| EFO:0005127 | cancer biomarker measurement |
| EFO:0005760 | serum carcinoembryonic antigen measurement |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0008111 | diet measurement |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| pentanal | increases expression | 1 |
| abrine | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Aldehydes | increases expression | 1 |
| Aspirin | affects expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Cadmium Chloride | increases abundance, 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.