METRNL
geneOn this page
Summary
METRNL (meteorin like, glial cell differentiation regulator, HGNC:27584) is a protein-coding gene on chromosome 17q25.3, encoding Meteorin-like protein (Q641Q3). Hormone induced following exercise or cold exposure that promotes energy expenditure.
Predicted to enable hormone activity. Predicted to be involved in several processes, including brown fat cell differentiation; positive regulation of brown fat cell differentiation; and response to muscle activity. Located in extracellular exosome.
Source: NCBI Gene 284207 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 74 total
- MANE Select transcript:
NM_001004431
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27584 |
| Approved symbol | METRNL |
| Name | meteorin like, glial cell differentiation regulator |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000176845 |
| Ensembl biotype | protein_coding |
| OMIM | 616241 |
| Entrez | 284207 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000320095, ENST00000570778, ENST00000571814, ENST00000571940, ENST00000574053
RefSeq mRNA: 2 — MANE Select: NM_001004431
NM_001004431, NM_001363853
CCDS: CCDS32779, CCDS86656
Canonical transcript exons
ENST00000320095 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001463756 | 83079609 | 83079985 |
| ENSE00002641734 | 83094256 | 83095122 |
| ENSE00003485936 | 83093167 | 83093226 |
| ENSE00003605539 | 83084938 | 83085323 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.8616 / max 557.7889, expressed in 1751 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163571 | 23.0540 | 1734 |
| 163570 | 1.5865 | 876 |
| 163572 | 1.1786 | 405 |
| 163574 | 0.0424 | 24 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.93 | gold quality |
| skin of leg | UBERON:0001511 | 98.62 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.48 | gold quality |
| zone of skin | UBERON:0000014 | 98.43 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.82 | gold quality |
| ectocervix | UBERON:0012249 | 96.79 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.67 | gold quality |
| tibial nerve | UBERON:0001323 | 96.63 | gold quality |
| ascending aorta | UBERON:0001496 | 96.63 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.58 | gold quality |
| vagina | UBERON:0000996 | 96.39 | gold quality |
| adipose tissue | UBERON:0001013 | 96.35 | gold quality |
| left coronary artery | UBERON:0001626 | 96.33 | gold quality |
| omental fat pad | UBERON:0010414 | 96.21 | gold quality |
| apex of heart | UBERON:0002098 | 96.17 | gold quality |
| right coronary artery | UBERON:0001625 | 96.02 | gold quality |
| blood | UBERON:0000178 | 96.01 | gold quality |
| right lung | UBERON:0002167 | 95.99 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.51 | gold quality |
| popliteal artery | UBERON:0002250 | 95.47 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.47 | gold quality |
| tibial artery | UBERON:0007610 | 95.47 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.18 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.17 | gold quality |
| granulocyte | CL:0000094 | 94.93 | gold quality |
| uterine cervix | UBERON:0000002 | 94.78 | gold quality |
| endocervix | UBERON:0000458 | 94.74 | gold quality |
| esophagus | UBERON:0001043 | 94.61 | gold quality |
| heart | UBERON:0000948 | 94.47 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8559 | yes | 222.67 |
| E-ANND-3 | yes | 20.32 |
| E-MTAB-7052 | no | 71.75 |
| E-MTAB-6075 | no | 53.21 |
| E-MTAB-6058 | no | 4.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting METRNL, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-8057 | 97.64 | 66.54 | 897 |
| HSA-MIR-424-3P | 97.20 | 65.86 | 385 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-10399-3P | 96.95 | 67.92 | 111 |
| HSA-MIR-212-5P | 96.83 | 67.43 | 950 |
Literature-anchored findings (GeneRIF, showing 23)
- Results show that Subfatin is a novel adipokine regulated by adipogenesis and obesity, with tissue distribution different from its homologue Meteorin (PMID:24393292)
- Data suggest that there is no correlation between serum Metrnl levels and BMI (body mass index) in humans. (PMID:26307585)
- Overexpression of METRNL inhibited mineralized nodule formation. (PMID:27716826)
- downregulation of METRNL during adipogenesis and functional induction of increased proliferation in stromal vascular fraction cells with concomitant inhibition of adipocyte differentiation may result in hypertrophic AT accumulation (PMID:27748745)
- Lower serum levels of Metrnl in patients with coronary artery disease and type 2 diabetes mellitus are negatively associated with insulin resistance and inflammatory cytokines. (PMID:30212581)
- Serum Metrnl is associated with the presence and severity of coronary artery disease in Chinese patients. (PMID:30394666)
- Serum levels of subfatin in patients with type 2 diabetes mellitus and its association with vascular adhesion molecules. (PMID:30463448)
- Low Serum Metrnl is associated with worsening of glucose tolerance, impaired endothelial function and atherosclerosis. (PMID:30825562)
- Myokines in skeletal muscle physiology and metabolism: Recent advances and future perspectives. (PMID:31442362)
- Data shows elevated METRNL plasma levels in individuals with T2D, further exacerbated with obesity. Additionally, a strong positive association was observed between METRNL and irisin. (PMID:31635130)
- Maternal and umbilical cord blood subfatin and spexin levels in patients with gestational diabetes mellitus. (PMID:32068104)
- Circulating levels of Meteorin-like protein in polycystic ovary syndrome (PMID:32330176)
- Characterization of the serum levels of Meteorin-like in patients with inflammatory bowel disease and its association with inflammatory cytokines. (PMID:33126870)
- Potential emerging roles of the novel adipokines adipolin/CTRP12 and meteorin-like/METRNL in obesity-osteoarthritis interplay. (PMID:33248913)
- Meteorin-like promotes heart repair through endothelial KIT receptor tyrosine kinase. (PMID:35709278)
- Decreased serum interleukin-41/Metrnl levels in patients with Graves’ disease. (PMID:36036749)
- Elevated levels of Metrnl in rheumatoid arthritis: Association with disease activity. (PMID:36084603)
- Metrnl Alleviates Lipid Accumulation by Modulating Mitochondrial Homeostasis in Diabetic Nephropathy. (PMID:36812572)
- Betatrophin, elabela, asprosin, glucagon and subfatin peptides in breast tissue, blood and milk in gestational diabetes. (PMID:36825397)
- Is meteorin-like (Metrnl) a novel biomarker to distinguish patients with obstructive sleep apnea (OSA) and patients with OSA at vascular risk. (PMID:36877355)
- Meteorin-like protein elevation post-exercise improved vascular inflammation among coronary artery disease patients by downregulating NLRP3 inflammasome activity. (PMID:38054817)
- Role of asprosin and meteorin-like peptide in progression of actinic keratosis to squamous cell carcinoma. (PMID:38192243)
- The Novel Cytokine Interleukin-41/Meteorin-like Is Reduced in Diffuse Systemic Sclerosis. (PMID:39056787)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | metrnlb | ENSDARG00000007289 |
| danio_rerio | metrnla | ENSDARG00000101914 |
| mus_musculus | Metrnl | ENSMUSG00000039208 |
| rattus_norvegicus | Metrnl | ENSRNOG00000046202 |
Paralogs (1): METRN (ENSG00000103260)
Protein
Protein identifiers
Meteorin-like protein — Q641Q3 (reviewed: Q641Q3)
Alternative names: Subfatin
All UniProt accessions (2): Q641Q3, I3L0R0
UniProt curated annotations — full annotation on UniProt →
Function. Hormone induced following exercise or cold exposure that promotes energy expenditure. Induced either in the skeletal muscle after exercise or in adipose tissue following cold exposure and is present in the circulation. Able to stimulate energy expenditure associated with the browning of the white fat depots and improves glucose tolerance. Does not promote an increase in a thermogenic gene program via direct action on adipocytes, but acts by stimulating several immune cell subtypes to enter the adipose tissue and activate their prothermogenic actions. Stimulates an eosinophil-dependent increase in IL4 expression and promotes alternative activation of adipose tissue macrophages, which are required for the increased expression of the thermogenic and anti-inflammatory gene programs in fat. Required for some cold-induced thermogenic responses, suggesting a role in metabolic adaptations to cold temperatures.
Subcellular location. Secreted.
Tissue specificity. Highly expressed in the skeletal muscle, in subcutaneous adipose tissue, epididymal white adipose tissue depots and heart. Also expressed in brown adipose tissues and kidney.
Similarity. Belongs to the meteorin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q641Q3-1 | 1 | yes |
| Q641Q3-2 | 2 |
RefSeq proteins (2): NP_001004431, NP_001350782 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR051998 | Meteorin-like | Family |
UniProt features (10 total): disulfide bond 5, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q641Q3-F1 | 84.20 | 0.63 |
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 (5): 52–75, 107–143, 188–260, 191–284, 201–306
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 182 (showing top):
GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_COLD, GOBP_INFLAMMATORY_RESPONSE, PEREZ_TP63_TARGETS, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, TATTATA_MIR374, GOBP_REGULATION_OF_BROWN_FAT_CELL_DIFFERENTIATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE, GOBP_BROWN_FAT_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_INFLAMMATORY_RESPONSE
GO Biological Process (8): response to cold (GO:0009409), response to muscle activity (GO:0014850), fat cell differentiation (GO:0045444), negative regulation of inflammatory response (GO:0050728), brown fat cell differentiation (GO:0050873), positive regulation of brown fat cell differentiation (GO:0090336), energy homeostasis (GO:0097009), signal transduction (GO:0007165)
GO Molecular Function (1): hormone activity (GO:0005179)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to stress | 1 |
| response to temperature stimulus | 1 |
| response to activity | 1 |
| cell differentiation | 1 |
| inflammatory response | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| fat cell differentiation | 1 |
| positive regulation of fat cell differentiation | 1 |
| brown fat cell differentiation | 1 |
| regulation of brown fat cell differentiation | 1 |
| multicellular organismal-level homeostasis | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
726 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| METRNL | FNDC5 | Q8NAU1 | 649 |
| METRNL | QTGAL | Q67FW5 | 455 |
| METRNL | UCP1 | P25874 | 446 |
| METRNL | FGF21 | Q9NSA1 | 446 |
| METRNL | PPARGC1A | Q9UBK2 | 397 |
| METRNL | FN3KRP | Q9HA64 | 376 |
| METRNL | MSTN | O14793 | 373 |
| METRNL | TBCD | Q9BTW9 | 320 |
| METRNL | OSTN | P61366 | 313 |
| METRNL | PPARG | P37231 | 311 |
| METRNL | C22orf31 | O95567 | 306 |
| METRNL | INS | P01308 | 305 |
| METRNL | IFFO2 | Q5TF58 | 304 |
| METRNL | PRDM16 | Q9HAZ2 | 294 |
| METRNL | LEP | P41159 | 294 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C1QTNF9 | C1QTNF9B | psi-mi:“MI:0914”(association) | 0.780 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| DEFA5 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| NOTCH2 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| CHMP4B | psi-mi:“MI:0914”(association) | 0.350 | |
| A2M | PZP | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| A2M | BMP7 | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| KLRD1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SFTPC | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BRICD5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| ASIC4 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| IL5RA | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM87A | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| NCR3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB9 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CFC1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PI15 | psi-mi:“MI:0914”(association) | 0.350 | |
| MFAP4 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CA6 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ELSPBP1 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNASE1L1 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| FMOD | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| IDS | RTCA | psi-mi:“MI:0914”(association) | 0.350 |
| SDF2L1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (56): METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-RNA), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS), METRNL (Affinity Capture-MS)
ESM2 similar proteins: A1A4M2, A4IFG4, A5D8P8, A6NKD9, A7E2M3, B4F7F3, E9Q6B2, F1MX48, F1SAM7, O97676, P18065, P36956, P47877, P49705, P56720, P56873, Q00709, Q00973, Q09200, Q0IHY5, Q15465, Q24JP5, Q2YD98, Q3TAS6, Q58CS8, Q5QQ49, Q5UCC4, Q60416, Q60698, Q641Q3, Q68FE7, Q6AYH6, Q6DVA0, Q6P7K5, Q6UKI2, Q6WVG3, Q80WF4, Q8IW70, Q8JGM4, Q8K064
Diamond homologs: A1L2K1, Q5Q0T9, Q5RJL6, Q641Q3, Q7ZV46, Q8C1Q4, Q8VE43, Q9UJH8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 9 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1224 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:83084936:AGC:A | acceptor_gain | 1.0000 |
| 17:83084937:GC:G | acceptor_gain | 1.0000 |
| 17:83084937:GCG:G | acceptor_gain | 1.0000 |
| 17:83085319:GTCTG:G | donor_gain | 1.0000 |
| 17:83093165:A:AG | acceptor_gain | 1.0000 |
| 17:83093166:G:GG | acceptor_gain | 1.0000 |
| 17:83093166:GC:G | acceptor_gain | 1.0000 |
| 17:83093166:GCGCC:G | acceptor_gain | 1.0000 |
| 17:83093224:TCGG:T | donor_loss | 1.0000 |
| 17:83093225:CGGT:C | donor_loss | 1.0000 |
| 17:83093227:G:GG | donor_gain | 1.0000 |
| 17:83094249:C:CA | acceptor_gain | 1.0000 |
| 17:83094252:A:AG | acceptor_gain | 1.0000 |
| 17:83094252:ACAG:A | acceptor_loss | 1.0000 |
| 17:83094253:C:G | acceptor_gain | 1.0000 |
| 17:83094253:CAGCC:C | acceptor_loss | 1.0000 |
| 17:83094254:A:AG | acceptor_gain | 1.0000 |
| 17:83094254:AG:A | acceptor_loss | 1.0000 |
| 17:83094254:AGCC:A | acceptor_gain | 1.0000 |
| 17:83094255:G:GA | acceptor_gain | 1.0000 |
| 17:83094255:GCC:G | acceptor_gain | 1.0000 |
| 17:83094255:GCCG:G | acceptor_gain | 1.0000 |
| 17:83094255:GCCGT:G | acceptor_gain | 1.0000 |
| 17:83079981:GGGAG:G | donor_gain | 0.9900 |
| 17:83079982:GGAG:G | donor_gain | 0.9900 |
| 17:83079982:GGAGG:G | donor_gain | 0.9900 |
| 17:83079983:GAG:G | donor_gain | 0.9900 |
| 17:83079983:GAGG:G | donor_gain | 0.9900 |
| 17:83079984:AGGT:A | donor_loss | 0.9900 |
| 17:83079986:G:GC | donor_loss | 0.9900 |
AlphaMissense
1993 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:83085013:G:C | W82C | 0.999 |
| 17:83085013:G:T | W82C | 0.999 |
| 17:83093224:T:G | F205C | 0.999 |
| 17:83079977:G:C | W54C | 0.998 |
| 17:83079977:G:T | W54C | 0.998 |
| 17:83085222:T:G | F152C | 0.998 |
| 17:83085270:T:C | F168S | 0.998 |
| 17:83094358:T:G | F240C | 0.998 |
| 17:83094451:T:C | F271S | 0.998 |
| 17:83085011:T:A | W82R | 0.997 |
| 17:83085011:T:C | W82R | 0.997 |
| 17:83085270:T:G | F168C | 0.997 |
| 17:83093224:T:C | F205S | 0.997 |
| 17:83094445:T:G | F269C | 0.997 |
| 17:83094511:T:C | F291S | 0.997 |
| 17:83094511:T:G | F291C | 0.997 |
| 17:83094510:T:C | F291L | 0.996 |
| 17:83094512:C:A | F291L | 0.996 |
| 17:83094512:C:G | F291L | 0.996 |
| 17:83085039:T:A | V91D | 0.995 |
| 17:83085275:T:G | Y170D | 0.995 |
| 17:83093211:T:A | C201S | 0.995 |
| 17:83093212:G:C | C201S | 0.995 |
| 17:83094417:T:A | C260S | 0.995 |
| 17:83094418:G:C | C260S | 0.995 |
| 17:83094451:T:G | F271C | 0.995 |
| 17:83085018:A:G | Y84C | 0.994 |
| 17:83085221:T:C | F152L | 0.994 |
| 17:83085223:C:A | F152L | 0.994 |
| 17:83085223:C:G | F152L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000078181 (17:83085985 T>C), RS1000091794 (17:83090980 A>G), RS1000358076 (17:83081128 C>T), RS1000489700 (17:83083682 T>C), RS1000588885 (17:83095540 C>G), RS1000723919 (17:83077823 C>T), RS1000850071 (17:83090043 T>G), RS1000932277 (17:83089061 C>T), RS1000953337 (17:83086558 C>A,G), RS1001015543 (17:83093337 C>A,T), RS1001019658 (17:83092734 T>G), RS1001365050 (17:83089199 G>A,C), RS1001443616 (17:83093529 C>T), RS1001472238 (17:83087843 G>C), RS1001631481 (17:83088002 C>A)
Disease associations
OMIM: gene MIM:616241 | disease phenotypes: MIM:192350
GenCC curated gene-disease
Mondo (1): VACTERL/vater association (MONDO:0008642)
Orphanet (1): VACTERL/VATER association (Orphanet:887)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004604_35 | Hematocrit | 1.000000e-09 |
| GCST006976_76 | Macular thickness | 2.000000e-09 |
| GCST008358_1 | Response to cognitive-behavioural therapy in anxiety and major depressive disorders | 2.000000e-06 |
| GCST009365_6 | LDL cholesterol levels x short total sleep time interaction (2df test) | 2.000000e-09 |
| GCST009963_18 | Cataracts (operation) | 6.000000e-13 |
| GCST012013_3 | Cataracts | 5.000000e-06 |
| GCST90002383_82 | Hematocrit | 2.000000e-12 |
| GCST90002384_428 | Hemoglobin | 3.000000e-12 |
| GCST90002394_417 | Monocyte percentage of white cells | 7.000000e-10 |
| GCST90014268_39 | Cataracts | 4.000000e-13 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004348 | hematocrit |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
79 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, increases methylation, affects cotreatment | 7 |
| Benzo(a)pyrene | increases expression, decreases methylation | 6 |
| trichostatin A | affects expression, affects cotreatment, increases expression | 4 |
| Air Pollutants | decreases expression, affects methylation, increases abundance, affects expression | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Aflatoxin B1 | affects expression, increases expression | 4 |
| Particulate Matter | affects methylation, decreases expression, increases abundance | 3 |
| bisphenol A | affects expression, increases methylation | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Dexamethasone | decreases expression, affects cotreatment | 2 |
| Estradiol | affects binding, increases expression, affects expression, increases reaction | 2 |
| Formaldehyde | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects expression, affects response to substance | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| diallyl trisulfide | increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03799705 | Not specified | COMPLETED | Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cataract, VACTERL/vater association