RETN
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Also known as FIZZ3ADSFRETN1
Summary
RETN (resistin, HGNC:20389) is a protein-coding gene on chromosome 19p13.2, encoding Resistin (Q9HD89). Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells.
This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. The encoded protein also has an antimicrobial role in skin, displaying antibacterial activity against both Gram positive and Gram negative bacteria. Alternatively spliced transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 56729 — RefSeq curated summary.
At a glance
- Gene–disease (curated): diabetes mellitus, noninsulin-dependent (Limited, GenCC)
- GWAS associations: 7
- Clinical variants (ClinVar): 16 total
- Phenotypes (HPO): 5
- MANE Select transcript:
NM_020415
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20389 |
| Approved symbol | RETN |
| Name | resistin |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FIZZ3, ADSF, RETN1 |
| Ensembl gene | ENSG00000104918 |
| Ensembl biotype | protein_coding |
| OMIM | 605565 |
| Entrez | 56729 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000221515, ENST00000381324, ENST00000629642
RefSeq mRNA: 5 — MANE Select: NM_020415
NM_001193374, NM_001385725, NM_001385726, NM_001385727, NM_020415
CCDS: CCDS12182, CCDS92503
Canonical transcript exons
ENST00000221515 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000671462 | 7669821 | 7669898 |
| ENSE00000874612 | 7669317 | 7669444 |
| ENSE00001380949 | 7669049 | 7669121 |
| ENSE00003846573 | 7670219 | 7670455 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 97.04.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.4178 / max 2695.9752, expressed in 144 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173589 | 2.5256 | 109 |
| 173588 | 1.8922 | 123 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow | UBERON:0002371 | 97.04 | gold quality |
| bone marrow cell | CL:0002092 | 95.79 | gold quality |
| monocyte | CL:0000576 | 95.52 | gold quality |
| mononuclear cell | CL:0000842 | 94.86 | gold quality |
| leukocyte | CL:0000738 | 94.12 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.69 | gold quality |
| granulocyte | CL:0000094 | 90.08 | gold quality |
| right lung | UBERON:0002167 | 85.48 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.95 | gold quality |
| blood | UBERON:0000178 | 84.72 | gold quality |
| spleen | UBERON:0002106 | 83.91 | gold quality |
| upper lobe of lung | UBERON:0008948 | 83.32 | gold quality |
| lung | UBERON:0002048 | 74.08 | gold quality |
| endothelial cell | CL:0000115 | 68.86 | gold quality |
| amniotic fluid | UBERON:0000173 | 68.74 | silver quality |
| tendon of biceps brachii | UBERON:0008188 | 68.47 | gold quality |
| mucosa of stomach | UBERON:0001199 | 66.57 | gold quality |
| triceps brachii | UBERON:0001509 | 65.76 | gold quality |
| vermiform appendix | UBERON:0001154 | 65.49 | gold quality |
| gluteal muscle | UBERON:0002000 | 65.06 | gold quality |
| caecum | UBERON:0001153 | 64.29 | gold quality |
| left coronary artery | UBERON:0001626 | 62.17 | gold quality |
| lower lobe of lung | UBERON:0008949 | 62.07 | silver quality |
| oocyte | CL:0000023 | 61.84 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 61.75 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 61.73 | gold quality |
| left uterine tube | UBERON:0001303 | 61.63 | gold quality |
| coronary artery | UBERON:0001621 | 61.47 | gold quality |
| omental fat pad | UBERON:0010414 | 60.86 | gold quality |
| peritoneum | UBERON:0002358 | 60.84 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 6786.40 |
| E-MTAB-7407 | yes | 5690.69 |
| E-MTAB-10042 | yes | 2808.39 |
| E-GEOD-149689 | yes | 2574.00 |
| E-HCAD-10 | yes | 2546.07 |
| E-MTAB-9801 | yes | 1368.00 |
| E-HCAD-15 | yes | 1099.56 |
| E-ANND-5 | yes | 752.02 |
| E-CURD-122 | yes | 19.11 |
| E-MTAB-9067 | yes | 19.06 |
| E-ANND-3 | yes | 15.44 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, ATF2, CEBPA, CEBPB, CEBPE, CTBP1, CTBP2, DDIT3, DNMT1, ESR1, FOXO1, HAND2, IRF6, NFKB, PAX3, POU2F2, PPARA, PPARG, SP1, SP3, SREBF1, STAT6
Literature-anchored findings (GeneRIF, showing 40)
- Mechanisms regulating adipocyte expression of resistin (PMID:11901161)
- data suggest that subjects carrying allele 3 of the resistin gene are characterized by relatively high insulin sensitivity (PMID:12213907)
- data suggest a synergistic effect of sequence differences at the resistin locus and obesity on risk of type 2 diabetes (PMID:12213908)
- Variation in resistin gene promoter not associated with polycystic ovary syndrome. Chromosome 19p13.3. (PMID:12502516)
- Resistin is expressed in human macrophages and directly regulated by PPAR gamma activators. (PMID:12504108)
- results suggest that cholesterol regulates resistin expression in human white adipose tissue (PMID:12647275)
- Resistin can be detected in human plasma, and plasma resistin levels are not different in type 1 and type 2 diabetes. (PMID:12660880)
- resistin is a novel secreted factor first identified as a TZD-suppressible gene (PMID:12700889)
- SREBP1c and C/EBP alpha may play discrete roles in the regulation of the resistin gene expression (PMID:12730330)
- data implicate resistin in the pathophysiology of the human insulin resistance syndrome, an effect mediated by the -180C>G promoter SNP and potentially cellular oxidative stress (PMID:12829623)
- Resistin exerts direct effects to promote endothelial cell activation by promoting ET-1 release, in part by inducing ET-1 promoter activity via the AP-1 site and upregulates adhesion molecules and chemokines and downregulates TRAF-3 (PMID:12874180)
- the frequent SNP +299G>A in the resistin gene is unlikely to have major effects on susceptibility to insulin resistance syndrome associated with type 2 diabetes in Japanese subjects. (PMID:12965109)
- insulin resistance correlated most strongly with plasma leptin levels and a significant correlation with resistin levels (PMID:14514348)
- Resistin is expressed in pancreatic islets. (PMID:14521959)
- circulating resistin is unlikely to play a major role in insulin resistance or energy homeostasis in humans. (PMID:14557464)
- there is significantly more resistin in the serum of obese subjects (PMID:14602788)
- Modest effect of resistin in reducing glucose uptake. Suppression of resistin expression may contribute to insulin-sensitizing and glucose-lowering actions of thiazolidinediones. (PMID:14671216)
- The mean concentration of resistin in sera from type 2 diabetic patients was significantly higher than that in normal subjects (mean +/- S.E.: 20.8 +/- 0.7 vs. 14.9 +/- 0.5 ng/ml, p < 0.001). (PMID:14687894)
- Overexpression of the resistin gene in adipocytes may be a local determinant factor in the pathogenesis of polycystic ovary syndrome. (PMID:14688155)
- the first cysteine (Cyst22) of human resistin may be involved in stabilizing the dimers through covalent interaction (PMID:14697240)
- plasma resistin concentrations are elevated in patients with type 2 diabetes, but are not associated with insulin resistance or obesity (PMID:14715842)
- the balance in concentrations of resistin and adiponectin determines the inflammation status of vasculature and the progress of atherosclerosis (PMID:14733921)
- Polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans. (PMID:14740159)
- Resistin is not a major determining factor of PCOS-associated insulin resistance and is not actively involved in the pathogenesis of the syndrome. (PMID:14967374)
- Scarce production in adipose tissue indicates it does not directly transmit signal of obesity to other tissues. Resistin does not link obesity to insulin resistance. Review. (PMID:15055467)
- Strong correlation between serum resistin and resistin mRNA from abdominal sc adipose tissue in obesity. Weak relationship between resistin and insulin sensitivity in nonobese subjects. Unlikely major link between obesity and insulin resistance. (PMID:15070954)
- In Pima Indians circulating resistin levels are proportional to degree of adiposity, but not degree of insulin resistance. High serum resistin predicts increases in percent body fat. Resistin promotes obesity but not obesity-associated insulin resistance. (PMID:15111497)
- Data suggest that dehydroepiandrosterone may regulate resistin transcription through a mechanism involving peroxisome proliferator-activated receptor alpha. (PMID:15130511)
- deleted transcript of resistin was characterized by an in-frame deletion of 78 bp, corresponding to the complete loss of exon 2 (resistin delta2 ASV). (PMID:15248836)
- Ten non-coding single nucleotide polymorphisms were found. Polymorphisms in the promoter region showed marked linkage disequilibrium with each other, and were associated with serum resistin level. (PMID:15326567)
- Resistin gene is associated with variation in weight, fat distribution and insulin resistance. (PMID:15517149)
- summary of the biology and physiology of resistin [review] (PMID:15526156)
- Resistin does not appear to be a major gene predisposing to polycystic ovary syndrome (PCOS). However, an association of a resistin variant with body mass index was found in women with PCOS, suggesting that resistin may be related to adiposity in PCOS. (PMID:15533384)
- Resistin induces HASMC proliferation through both ERK 1/2 and Akt signaling pathways. (PMID:15545519)
- circulating resistin levels do not appear to be closely related to the nutritional status in anorexia nervosa (PMID:15598689)
- data suggest that recombinant human FIZZ3(resistin) can influence adipose metabolism by regulating preadipocyte cell number, adipocyte lipid content, and energy expenditure (PMID:15705777)
- Among HIV-infected subjects with insulin resistance and lipoatrophy, resistin levels decreased significantly after rosiglitazone. (PMID:15741250)
- In women with polycystic ovary syndrome adiponectin was lower and resistin was higher while leptin was similar to matched controls. (PMID:15757855)
- resistin correlates negatively with high-density lipoprotein cholesterol (HDL-C) level for both sexes (PMID:15798953)
- Resistin displays potent proinflammatory properties by strongly up-regulating IL-6 and TNF-alpha, responding to TNF-alpha challenge, enhancing its own activity by a positive feedback, and inducing arthritis when injected into healthy mouse joints. (PMID:15843582)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Retn | ENSMUSG00000012705 |
| rattus_norvegicus | Retn | ENSRNOG00000001001 |
Paralogs (1): RETNLB (ENSG00000163515)
Protein
Protein identifiers
Resistin — Q9HD89 (reviewed: Q9HD89)
Alternative names: Adipose tissue-specific secretory factor, C/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein, Cysteine-rich secreted protein A12-alpha-like 2, Cysteine-rich secreted protein FIZZ3
All UniProt accessions (1): Q9HD89
UniProt curated annotations — full annotation on UniProt →
Function. Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells. Potentially links obesity to diabetes. Promotes chemotaxis in myeloid cells.
Subunit / interactions. Homodimer; disulfide-linked. Interacts with DEFA1.
Subcellular location. Secreted.
Tissue specificity. Expressed in white adipose tissue (at protein level). Widely expressed, with particularly strong expression in lung, bone marrow, breast and peripheral blood. Expressed strongly in bone marrow and at lower levels in lung, but not detected in other tissues. Isoform 2 is detected in adipose tissue, bone marrow, brain, lung, peripheral blood, placenta and thymus.
Similarity. Belongs to the resistin/FIZZ family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HD89-1 | 1 | yes |
| Q9HD89-2 | 2, delta2ASV |
RefSeq proteins (5): NP_001180303, NP_001372654, NP_001372655, NP_001372656, NP_065148* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009714 | RELM | Family |
| IPR036262 | Resistin-like_sf | Homologous_superfamily |
Pfam: PF06954
UniProt features (9 total): disulfide bond 6, signal peptide 1, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HD89-F1 | 89.44 | 0.72 |
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 (6): 22, 51–104, 63–103, 72–89, 74–91, 78–93
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-9615017 | FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes |
MSigDB gene sets: 172 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_BEHAVIOR, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, GOBP_CELL_CELL_SIGNALING, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_BEHAVIOR, GOBP_REGULATION_OF_FEEDING_BEHAVIOR, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_RESPONSE_TO_INSULIN
GO Biological Process (7): response to mechanical stimulus (GO:0009612), response to insulin (GO:0032868), fat cell differentiation (GO:0045444), positive regulation of synaptic transmission (GO:0050806), negative regulation of feeding behavior (GO:2000252), positive regulation of progesterone secretion (GO:2000872), signal transduction (GO:0007165)
GO Molecular Function (2): hormone activity (GO:0005179), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), azurophil granule lumen (GO:0035578), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| FOXO-mediated transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| secretory granule lumen | 2 |
| response to external stimulus | 1 |
| response to abiotic stimulus | 1 |
| response to peptide hormone | 1 |
| cell differentiation | 1 |
| chemical synaptic transmission | 1 |
| positive regulation of cell communication | 1 |
| positive regulation of signaling | 1 |
| modulation of chemical synaptic transmission | 1 |
| feeding behavior | 1 |
| negative regulation of behavior | 1 |
| regulation of feeding behavior | 1 |
| progesterone secretion | 1 |
| positive regulation of female gonad development | 1 |
| positive regulation of steroid hormone secretion | 1 |
| regulation of progesterone secretion | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| vacuolar lumen | 1 |
| azurophil granule | 1 |
| specific granule | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1964 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RETN | TLR4 | O00206 | 993 |
| RETN | CAP1 | Q01518 | 963 |
| RETN | ADIPOQ | Q15848 | 949 |
| RETN | LEP | P41159 | 925 |
| RETN | NAMPT | P43490 | 915 |
| RETN | DCN | P07585 | 887 |
| RETN | INS | P01308 | 879 |
| RETN | ADIPOR2 | Q86V24 | 869 |
| RETN | PPARG | P37231 | 858 |
| RETN | CFD | P00746 | 851 |
| RETN | TNF | P01375 | 835 |
| RETN | GHRL | Q9UBU3 | 824 |
| RETN | IL6 | P05231 | 809 |
| RETN | ADIPOR1 | Q96A54 | 794 |
| RETN | SERPINE1 | P05121 | 774 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPR25 | RETN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RETN | GLI4 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR25 | RETN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (15): GLI4 (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), APEX2 (Affinity Capture-MS), ZNF664 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), GPR25 (Two-hybrid), RETN (Reconstituted Complex), RETN (Affinity Capture-Western), RETN (Affinity Capture-RNA), HSPA5 (Affinity Capture-MS), APEX2 (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), GLI4 (Affinity Capture-MS), RETN (Negative Genetic), RETN (Two-hybrid)
ESM2 similar proteins: A0A291NVT7, A0A4Y5X186, A0A4Y5X1A7, A0A7S8RFI7, A0S864, A7X3V0, B2ZG38, B3EWX6, C0HLS6, C0HLS9, C0HLT1, C0HLT2, C0HM40, C5H8E7, C9E1S2, D3GGZ8, O12961, P01060, P01066, P05486, P0C6A4, P0DN42, P0DN43, P0DQE9, P0DTJ2, P0DTJ3, P0DUA3, P10776, P19860, P22737, P36985, P58990, P81743, Q00945, Q10037, Q2XXR7, Q2XXR8, Q3BK15, Q4R128, Q56R11
Diamond homologs: G3V686, Q762I5, Q8K426, Q99P85, Q99P86, Q99P87, Q9BQ08, Q9EP95, Q9HD89
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| STAT6 | “up-regulates quantity by expression” | RETN | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
309 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:7669118:GAGG:G | donor_gain | 1.0000 |
| 19:7669120:GG:G | donor_gain | 1.0000 |
| 19:7669120:GGGTA:G | donor_loss | 1.0000 |
| 19:7669121:GG:G | donor_gain | 1.0000 |
| 19:7669121:GGT:G | donor_loss | 1.0000 |
| 19:7669122:G:GG | donor_gain | 1.0000 |
| 19:7669123:T:A | donor_loss | 1.0000 |
| 19:7669426:G:GT | donor_gain | 1.0000 |
| 19:7669441:C:CG | donor_gain | 1.0000 |
| 19:7669445:G:GG | donor_gain | 1.0000 |
| 19:7669819:A:AG | acceptor_gain | 1.0000 |
| 19:7669820:G:GG | acceptor_gain | 1.0000 |
| 19:7669117:AGAGG:A | donor_gain | 0.9900 |
| 19:7669118:GAGGG:G | donor_gain | 0.9900 |
| 19:7669119:AGG:A | donor_gain | 0.9900 |
| 19:7669120:GGG:G | donor_gain | 0.9900 |
| 19:7669361:T:TA | acceptor_gain | 0.9900 |
| 19:7669441:C:G | donor_gain | 0.9900 |
| 19:7669465:C:T | donor_gain | 0.9900 |
| 19:7669315:A:AG | acceptor_gain | 0.9800 |
| 19:7669316:G:GA | acceptor_gain | 0.9800 |
| 19:7669316:G:GT | acceptor_loss | 0.9800 |
| 19:7669316:GC:G | acceptor_gain | 0.9800 |
| 19:7669316:GCGC:G | acceptor_gain | 0.9800 |
| 19:7669362:G:A | acceptor_gain | 0.9800 |
| 19:7669430:T:TA | donor_gain | 0.9800 |
| 19:7669820:GT:G | acceptor_gain | 0.9800 |
| 19:7669820:GTA:G | acceptor_gain | 0.9800 |
| 19:7670209:C:CA | acceptor_gain | 0.9800 |
| 19:7670210:G:A | acceptor_gain | 0.9800 |
AlphaMissense
694 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:7670316:G:C | W98C | 0.997 |
| 19:7670316:G:T | W98C | 0.997 |
| 19:7670265:G:C | W81C | 0.996 |
| 19:7670265:G:T | W81C | 0.996 |
| 19:7670245:G:T | G75C | 0.991 |
| 19:7670263:T:A | W81R | 0.984 |
| 19:7670263:T:C | W81R | 0.984 |
| 19:7670236:T:A | C72S | 0.982 |
| 19:7670237:G:C | C72S | 0.982 |
| 19:7670295:C:G | C91W | 0.982 |
| 19:7670294:G:A | C91Y | 0.980 |
| 19:7670243:G:A | C74Y | 0.979 |
| 19:7670288:G:A | C89Y | 0.979 |
| 19:7670246:G:A | G75D | 0.977 |
| 19:7670293:T:A | C91S | 0.976 |
| 19:7670294:G:C | C91S | 0.976 |
| 19:7670255:G:A | C78Y | 0.975 |
| 19:7670228:T:A | V69D | 0.974 |
| 19:7670237:G:A | C72Y | 0.974 |
| 19:7670287:T:A | C89S | 0.974 |
| 19:7670288:G:C | C89S | 0.974 |
| 19:7670289:T:G | C89W | 0.974 |
| 19:7670236:T:C | C72R | 0.973 |
| 19:7670246:G:T | G75V | 0.973 |
| 19:7670238:C:G | C72W | 0.971 |
| 19:7670311:G:C | D97H | 0.971 |
| 19:7670287:T:C | C89R | 0.970 |
| 19:7669853:T:A | C51S | 0.969 |
| 19:7669854:G:C | C51S | 0.969 |
| 19:7670243:G:T | C74F | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000255803 (19:7669729 A>T), RS1000609582 (19:7667282 C>T), RS1001611666 (19:7668139 G>A), RS1001642765 (19:7667960 G>A), RS1003252498 (19:7668547 T>A), RS1003614845 (19:7670518 G>A), RS1003647508 (19:7670280 G>C), RS1004516328 (19:7669688 G>A), RS1005601010 (19:7667514 C>T), RS1006996215 (19:7667969 C>T), RS1007617145 (19:7670118 A>C,T), RS1009826438 (19:7667467 G>A,T), RS1010723604 (19:7670050 G>A,T), RS1011809934 (19:7669605 A>G), RS1012355653 (19:7670824 G>A)
Disease associations
OMIM: gene MIM:605565 | disease phenotypes: MIM:209850
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| diabetes mellitus, noninsulin-dependent | Limited | Autosomal dominant |
Mondo (2): autism (MONDO:0005260), (MONDO:0007455)
Orphanet (0):
HPO phenotypes
5 total (6 of 5 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000855 | Insulin resistance |
| HP:0003584 | Late onset |
| HP:0005978 | Type II diabetes mellitus |
| HP:0031819 | Increased waist to hip ratio |
| HP:0000717 | Autism |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001620_4 | Resistin levels | 3.000000e-06 |
| GCST002381_1 | Resistin levels | 1.000000e-07 |
| GCST002541_116 | Menarche (age at onset) | 1.000000e-08 |
| GCST003759_1 | Resistin levels | 0.000000e+00 |
| GCST003759_2 | Resistin levels | 2.000000e-209 |
| GCST006585_2460 | Blood protein levels | 1.000000e-08 |
| GCST011497_1 | Resistin levels | 1.000000e-188 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004819 | resistin measurement |
| EFO:0004703 | age at menarche |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1862513 | RETN | 0.00 | 0 |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | affects cotreatment, increases expression, increases secretion, increases reaction | 3 |
| Rosiglitazone | decreases reaction, increases secretion, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 2 |
| geranylgeranyl pyrophosphate | decreases reaction, increases expression, increases secretion | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| hesperetin | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| perfluorodecanoic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| aloe emodin | decreases reaction, increases expression | 1 |
| perfluoroundecanoic acid | decreases expression | 1 |
| Arsenic Trioxide | decreases reaction, affects cotreatment, increases expression, increases secretion | 1 |
| Glucose | decreases uptake | 1 |
| Iron | increases expression | 1 |
| Lipopolysaccharides | increases expression | 1 |
| Mevalonic Acid | increases expression, increases secretion, decreases reaction | 1 |
| Niacin | decreases expression | 1 |
| Fenofibrate | increases expression, increases secretion, decreases reaction | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, decreases reaction | 1 |
| Eicosapentaenoic Acid | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Arachidonic Acid | decreases expression | 1 |
| Amlodipine | decreases expression | 1 |
| Simvastatin | increases expression, increases secretion, decreases reaction | 1 |
| Protein Kinase Inhibitors | decreases reaction, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1YR | Abcam A-549 RETN KO | Cancer cell line | Male |
| CVCL_D2P1 | Abcam THP-1 RETN KO | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Associated diseases: type 2 diabetes mellitus