ARK2N
gene geneOn this page
Also known as MGC12909ARKL1RNF111L1
Summary
ARK2N (arkadia (RNF111) N-terminal like PKA signaling regulator 2N, HGNC:28172) is a protein-coding gene on chromosome 18q21.1, encoding Protein ARK2N (Q96B23). AMPK substrate important for exercise capacity and skeletal muscle function.
Enables transcription corepressor activity. Involved in negative regulation of viral life cycle. Is active in chromatin.
Source: NCBI Gene 147339 — RefSeq curated summary.
At a glance
- GWAS associations: 46
- Clinical variants (ClinVar): 12 total — 1 pathogenic
- MANE Select transcript:
NM_145055
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28172 |
| Approved symbol | ARK2N |
| Name | arkadia (RNF111) N-terminal like PKA signaling regulator 2N |
| Location | 18q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC12909, ARKL1, RNF111L1, Ark2N |
| Ensembl gene | ENSG00000152242 |
| Ensembl biotype | protein_coding |
| OMIM | 621303 |
| Entrez | 147339 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron
ENST00000587591, ENST00000588730, ENST00000615052, ENST00000615553, ENST00000619230, ENST00000619301, ENST00000905557, ENST00000905558, ENST00000915807, ENST00000915808, ENST00000951697
RefSeq mRNA: 2 — MANE Select: NM_145055
NM_001008239, NM_145055
CCDS: CCDS42430, CCDS42431
Canonical transcript exons
ENST00000615052 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003717731 | 46253697 | 46253823 |
| ENSE00003718340 | 46215811 | 46216595 |
| ENSE00003734719 | 46240005 | 46240187 |
| ENSE00003736085 | 46174034 | 46174330 |
| ENSE00003747474 | 46262929 | 46266992 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 97.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6692 / max 684.2413, expressed in 1799 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170152 | 7.7287 | 1724 |
| 170151 | 4.7072 | 1643 |
| 170149 | 1.8747 | 807 |
| 170153 | 1.4916 | 467 |
| 170148 | 0.8671 | 480 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.48 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.04 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.77 | gold quality |
| biceps brachii | UBERON:0001507 | 93.33 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.80 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.64 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.94 | gold quality |
| caput epididymis | UBERON:0004358 | 91.52 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.23 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.08 | gold quality |
| oral cavity | UBERON:0000167 | 90.68 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.34 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.19 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 90.18 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.86 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.35 | gold quality |
| amniotic fluid | UBERON:0000173 | 89.32 | gold quality |
| body of tongue | UBERON:0011876 | 88.73 | gold quality |
| squamous epithelium | UBERON:0006914 | 88.43 | gold quality |
| upper leg skin | UBERON:0004262 | 88.34 | gold quality |
| superior surface of tongue | UBERON:0007371 | 88.06 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.97 | gold quality |
| tongue | UBERON:0001723 | 87.52 | gold quality |
| skin of hip | UBERON:0001554 | 87.26 | gold quality |
| tonsil | UBERON:0002372 | 87.22 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.06 | gold quality |
| muscle of leg | UBERON:0001383 | 86.82 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 86.68 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.41 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 86.28 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6386 | no | 671.93 |
| E-ANND-3 | no | 4.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
256 targeting ARK2N, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
Literature-anchored findings (GeneRIF, showing 2)
- ARKL1 binds CK2beta through the KSSR motif and this involves a polyserine sequence resembling the CK2beta binding sequence in EBNA1. (PMID:24216761)
- Phosphoproteomics of three exercise modalities identifies canonical signaling and C18ORF25 as an AMPK substrate regulating skeletal muscle function. (PMID:35882232)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ark2n | ENSDARG00000046071 |
| mus_musculus | Ark2n | ENSMUSG00000047466 |
| rattus_norvegicus | Ark2n | ENSRNOG00000017215 |
| drosophila_melanogaster | CG6923 | FBGN0037944 |
| caenorhabditis_elegans | toe-4 | WBGENE00012194 |
Paralogs (2): ARK2C (ENSG00000141622), RNF111 (ENSG00000157450)
Protein
Protein identifiers
Protein ARK2N — Q96B23 (reviewed: Q96B23)
Alternative names: ARKadia-like protein 1, Arkadia (RNF111) N-terminal like PKA signaling regulator protein 2N
All UniProt accessions (4): Q96B23, A0A087WVF1, K7EQH1, K7ER64
UniProt curated annotations — full annotation on UniProt →
Function. AMPK substrate important for exercise capacity and skeletal muscle function. Required for normal contraction-induced signaling. (Microbial infection) Upon Epstein-Barr virus (EBV) infection, suppresses viral BZLF1 expression and subsequent EBV reactivation by interacting with JUN and inhibiting its transcriptional activator activity on BZLF1 Z promoter.
Subunit / interactions. Interacts with CSNK2B (via KSSR). Interacts with JUN; the interaction is mediated by CSNK2B.
Subcellular location. Nucleus.
Tissue specificity. Expressed in skeletal muscle.
Post-translational modifications. Phosphorylated at Ser-67 by AMPK. In skeletal muscle, phosphorylation is induced by exercise and seems to increase muscle contractile function.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96B23-1 | 1 | yes |
| Q96B23-2 | 2 |
RefSeq proteins (2): NP_001008240, NP_659492* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029306 | RNF111_N | Domain |
| IPR051073 | ZNRF3_Arkadia_E3_ligases | Family |
Pfam: PF15303
UniProt features (26 total): modified residue 9, compositionally biased region 5, region of interest 3, mutagenesis site 2, sequence conflict 2, chain 1, cross-link 1, splice variant 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96B23-F1 | 54.67 | 0.04 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (10): 66, 67, 143, 145, 147, 327, 328, 330, 347, 358
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 66–67 | loss of phosphorylation by ampk. decreases muscle specific force. |
| 66–67 | increased phosphorylation. increases muscle specific force. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 201 (showing top):
AAGCAAT_MIR137, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, ATGCAGT_MIR217, FOXO1_01, BROWNE_HCMV_INFECTION_12HR_UP, ATGTTAA_MIR302C, TCF4_Q5, GGGCATT_MIR365, WTGAAAT_UNKNOWN, GOBP_VIRAL_LIFE_CYCLE, MORF_EPHA7, TTGGAGA_MIR5155P_MIR519E
GO Biological Process (4): ubiquitin-dependent protein catabolic process (GO:0006511), negative regulation of viral life cycle (GO:1903901), release from viral latency (GO:0019046), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (3): transcription corepressor activity (GO:0003714), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| viral life cycle | 1 |
| negative regulation of viral process | 1 |
| regulation of viral life cycle | 1 |
| viral process | 1 |
| latent virus replication | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARK2N | ARK2C | Q6ZSG1 | 645 |
| ARK2N | FAM240B | A0A1B0GVZ2 | 507 |
| ARK2N | TMEM200C | A6NKL6 | 479 |
| ARK2N | A6NLF2 | A6NLF2 | 448 |
| ARK2N | Q3MI93 | Q3MI93 | 417 |
| ARK2N | TMEM200A | Q86VY9 | 391 |
| ARK2N | RHNO1 | Q9BSD3 | 368 |
| ARK2N | FUNDC2 | Q9BWH2 | 361 |
| ARK2N | LOXHD1 | Q8IVV2 | 341 |
| ARK2N | IER3IP1 | Q9Y5U9 | 324 |
| ARK2N | ZNF764 | Q96H86 | 323 |
| ARK2N | FRG2C | A6NGY1 | 322 |
| ARK2N | HOATZ | Q6PI97 | 310 |
| ARK2N | HDHD2 | Q9H0R4 | 305 |
| ARK2N | Q8NG57 | Q8NG57 | 300 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATF2 | JUN | psi-mi:“MI:0914”(association) | 0.950 |
| MED17 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| CSNK2A1 | EIF3J | psi-mi:“MI:0914”(association) | 0.810 |
| SUMO1 | ARK2N | psi-mi:“MI:0915”(physical association) | 0.790 |
| ARK2N | SUMO1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| SUMO1 | ARK2N | psi-mi:“MI:0407”(direct interaction) | 0.790 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| NRP1 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.790 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| RPS6KA3 | ROCK2 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2B | RPS6KA4 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| HOXC9 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| TULP3 | GGPS1 | psi-mi:“MI:0914”(association) | 0.640 |
| ARK2N | SUMO1P1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TAX1BP1 | ARK2N | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARK2N | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARK2N | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARK2N | JAKMIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF4 | ARK2N | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2I | ARK2N | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (173): C18orf25 (Two-hybrid), SUMO1P1 (Two-hybrid), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Two-hybrid), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS), C18orf25 (Affinity Capture-MS)
ESM2 similar proteins: A2VE56, A6QPH9, I3LHS8, O08781, O14545, O54836, P0C6S7, Q14CM0, Q3SZY7, Q3U2E2, Q497H0, Q4R3D6, Q4R970, Q58D05, Q5F3F2, Q5FWF5, Q5R7S6, Q5RDJ2, Q5U2M7, Q5VT97, Q66J85, Q68FE8, Q69Z69, Q6DGF4, Q6FIF0, Q6N043, Q6P2K3, Q70EL2, Q7Z6G8, Q8BIZ1, Q8IWR0, Q8K214, Q8K387, Q8N7W2, Q8N9Z9, Q8NA31, Q8ND82, Q8QFX1, Q91YD3, Q96B23
Diamond homologs: Q5R4B7, Q8BH50, Q96B23, Q5R476, Q66J97, Q6NRV8, Q6ZNA4, Q90ZT7, Q99ML9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 149 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 |
|---|---|---|---|
| SPOP-mediated proteasomal degradation of PD-L1(CD274) | 5 | 11.3× | 6e-03 |
| Regulation of PTEN stability and activity | 5 | 9.1× | 9e-03 |
| Toll-like Receptor Cascades | 7 | 8.6× | 4e-03 |
| UCH proteinases | 6 | 7.4× | 9e-03 |
| Regulation of TP53 Activity through Phosphorylation | 6 | 7.0× | 9e-03 |
| Viral Infection Pathways | 13 | 4.0× | 4e-03 |
| Infectious disease | 16 | 3.9× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of cell cycle | 11 | 6.0× | 1e-03 |
| protein phosphorylation | 10 | 5.0× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1180529 | GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 | Pathogenic |
SpliceAI
1869 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:46174331:GTGAG:G | donor_loss | 1.0000 |
| 18:46216602:G:GT | donor_gain | 1.0000 |
| 18:46224233:T:TA | donor_gain | 1.0000 |
| 18:46224234:A:AA | donor_gain | 1.0000 |
| 18:46253692:CTCA:C | acceptor_loss | 1.0000 |
| 18:46253694:CAG:C | acceptor_loss | 1.0000 |
| 18:46253695:A:AG | acceptor_gain | 1.0000 |
| 18:46253695:AGGT:A | acceptor_loss | 1.0000 |
| 18:46253696:G:GG | acceptor_gain | 1.0000 |
| 18:46253696:GGT:G | acceptor_gain | 1.0000 |
| 18:46253696:GGTC:G | acceptor_gain | 1.0000 |
| 18:46253789:G:GT | donor_gain | 1.0000 |
| 18:46253820:CAAGG:C | donor_loss | 1.0000 |
| 18:46253821:AAG:A | donor_loss | 1.0000 |
| 18:46253822:AGGT:A | donor_loss | 1.0000 |
| 18:46253824:G:GA | donor_loss | 1.0000 |
| 18:46253825:T:A | donor_loss | 1.0000 |
| 18:46254659:T:G | acceptor_gain | 1.0000 |
| 18:46254661:T:G | acceptor_gain | 1.0000 |
| 18:46254662:A:AG | acceptor_gain | 1.0000 |
| 18:46263099:GGC:G | donor_gain | 1.0000 |
| 18:46263100:GCG:G | donor_gain | 1.0000 |
| 18:46174332:T:A | donor_loss | 0.9900 |
| 18:46212817:GCGTT:G | donor_gain | 0.9900 |
| 18:46215806:TACA:T | acceptor_loss | 0.9900 |
| 18:46215809:AGGT:A | acceptor_loss | 0.9900 |
| 18:46216591:ACCAG:A | donor_loss | 0.9900 |
| 18:46216592:CCAG:C | donor_loss | 0.9900 |
| 18:46216593:CAG:C | donor_loss | 0.9900 |
| 18:46216594:AGGT:A | donor_loss | 0.9900 |
AlphaMissense
2633 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:46216441:G:C | R187S | 1.000 |
| 18:46216441:G:T | R187S | 1.000 |
| 18:46216420:G:C | K180N | 0.999 |
| 18:46216420:G:T | K180N | 0.999 |
| 18:46216426:G:C | R182S | 0.999 |
| 18:46216426:G:T | R182S | 0.999 |
| 18:46216440:G:C | R187T | 0.999 |
| 18:46216440:G:T | R187M | 0.999 |
| 18:46216449:G:C | R190P | 0.999 |
| 18:46216490:A:C | S204R | 0.999 |
| 18:46216492:T:A | S204R | 0.999 |
| 18:46216492:T:G | S204R | 0.999 |
| 18:46216493:A:C | S205R | 0.999 |
| 18:46216495:T:A | S205R | 0.999 |
| 18:46216495:T:G | S205R | 0.999 |
| 18:46216499:A:C | S207R | 0.999 |
| 18:46216501:T:A | S207R | 0.999 |
| 18:46216501:T:G | S207R | 0.999 |
| 18:46263078:T:C | L392P | 0.999 |
| 18:46216178:A:C | S100R | 0.998 |
| 18:46216180:T:A | S100R | 0.998 |
| 18:46216180:T:G | S100R | 0.998 |
| 18:46216425:G:C | R182T | 0.998 |
| 18:46216434:T:C | L185P | 0.998 |
| 18:46216437:T:C | L186P | 0.998 |
| 18:46216193:G:C | D105H | 0.997 |
| 18:46216345:G:C | K155N | 0.997 |
| 18:46216345:G:T | K155N | 0.997 |
| 18:46216425:G:T | R182M | 0.997 |
| 18:46216447:A:C | K189N | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000039705 (18:46172436 G>A), RS1000088452 (18:46249990 C>G,T), RS1000095526 (18:46258083 T>C), RS1000113210 (18:46200688 T>C), RS1000130261 (18:46207056 A>G), RS1000186152 (18:46234801 A>G), RS1000186901 (18:46194542 G>A,T), RS1000244482 (18:46244697 G>A), RS1000346177 (18:46200559 GC>G), RS1000373965 (18:46195186 A>C,G), RS1000420777 (18:46245025 G>A), RS1000451243 (18:46264582 A>G), RS1000466994 (18:46189288 C>T), RS1000514444 (18:46183183 G>A), RS1000535341 (18:46230738 C>T)
Disease associations
OMIM: gene MIM:621303 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
46 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003540_7 | Clinical laboratory measurements | 2.000000e-10 |
| GCST003540_8 | Clinical laboratory measurements | 2.000000e-13 |
| GCST004599_132 | Mean platelet volume | 2.000000e-13 |
| GCST004601_179 | Red blood cell count | 5.000000e-25 |
| GCST004602_253 | Mean corpuscular volume | 5.000000e-74 |
| GCST004610_86 | White blood cell count | 5.000000e-10 |
| GCST004611_139 | High light scatter reticulocyte count | 7.000000e-10 |
| GCST004613_69 | Sum neutrophil eosinophil counts | 8.000000e-10 |
| GCST004614_69 | Granulocyte count | 2.000000e-09 |
| GCST004620_33 | Sum basophil neutrophil counts | 3.000000e-09 |
| GCST004621_201 | Red cell distribution width | 1.000000e-109 |
| GCST004621_202 | Red cell distribution width | 9.000000e-121 |
| GCST004622_65 | Reticulocyte count | 3.000000e-13 |
| GCST004626_152 | Myeloid white cell count | 1.000000e-10 |
| GCST004629_38 | Neutrophil count | 2.000000e-09 |
| GCST004630_224 | Mean corpuscular hemoglobin | 3.000000e-79 |
| GCST005993_18 | Mean corpuscular hemoglobin | 7.000000e-22 |
| GCST006011_56 | Mean corpuscular volume | 3.000000e-22 |
| GCST006804_16 | Red cell distribution width | 5.000000e-85 |
| GCST006996_3 | Cerebrospinal AB1-42 levels in mild cognitive impairment | 3.000000e-06 |
| GCST007012_5 | Cerebrospinal fluid AB1-42 levels | 1.000000e-07 |
| GCST90002381_549 | Eosinophil count | 3.000000e-09 |
| GCST90002384_434 | Hemoglobin | 2.000000e-12 |
| GCST90002385_337 | High light scatter reticulocyte count | 6.000000e-10 |
| GCST90002386_86 | High light scatter reticulocyte percentage of red cells | 3.000000e-28 |
| GCST90002387_212 | Immature fraction of reticulocytes | 4.000000e-13 |
| GCST90002389_248 | Lymphocyte percentage of white cells | 6.000000e-09 |
| GCST90002390_552 | Mean corpuscular hemoglobin | 9.000000e-46 |
| GCST90002390_553 | Mean corpuscular hemoglobin | 7.000000e-40 |
| GCST90002391_100 | Mean corpuscular hemoglobin concentration | 5.000000e-20 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004297 | clinical laboratory measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004305 | erythrocyte count |
| EFO:0007986 | reticulocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0009188 | Red cell distribution width |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0005091 | monocyte count |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| arsenite | decreases methylation | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Demecolcine | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Thiram | increases 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.