FAM3B
geneOn this page
Also known as D21M16SJHU19ePRED442-21ORF9C21orf76PANDER
Summary
FAM3B (FAM3 metabolism regulating signaling molecule B, HGNC:1253) is a protein-coding gene on chromosome 21q22.3, encoding Protein FAM3B (P58499). Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.
Predicted to enable cytokine activity. Involved in insulin secretion. Located in extracellular exosome.
Source: NCBI Gene 54097 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 36 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_058186
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1253 |
| Approved symbol | FAM3B |
| Name | FAM3 metabolism regulating signaling molecule B |
| Location | 21q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER |
| Ensembl gene | ENSG00000183844 |
| Ensembl biotype | protein_coding |
| OMIM | 608617 |
| Entrez | 54097 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000357985, ENST00000398646, ENST00000398647, ENST00000398652, ENST00000479810, ENST00000518236, ENST00000953958
RefSeq mRNA: 2 — MANE Select: NM_058186
NM_058186, NM_206964
CCDS: CCDS13671, CCDS42930
Canonical transcript exons
ENST00000357985 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001416667 | 41316801 | 41316898 |
| ENSE00003481681 | 41347013 | 41347100 |
| ENSE00003569115 | 41338378 | 41338501 |
| ENSE00003578761 | 41345686 | 41345736 |
| ENSE00003640536 | 41344476 | 41344534 |
| ENSE00003669104 | 41348592 | 41348724 |
| ENSE00003691429 | 41322923 | 41323066 |
| ENSE00003893055 | 41357108 | 41357727 |
Expression profiles
Bgee: expression breadth ubiquitous, 188 present calls, max score 99.31.
FANTOM5 (CAGE): breadth broad, TPM avg 2.2036 / max 380.9588, expressed in 208 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 189239 | 1.9016 | 192 |
| 189237 | 0.1555 | 41 |
| 189238 | 0.0644 | 23 |
| 189240 | 0.0347 | 8 |
| 189241 | 0.0240 | 9 |
| 189242 | 0.0128 | 9 |
| 189235 | 0.0105 | 4 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.31 | gold quality |
| parotid gland | UBERON:0001831 | 99.23 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.96 | gold quality |
| duodenum | UBERON:0002114 | 98.95 | gold quality |
| body of pancreas | UBERON:0001150 | 98.90 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 97.90 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.49 | gold quality |
| pancreas | UBERON:0001264 | 96.25 | gold quality |
| oral cavity | UBERON:0000167 | 96.23 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.04 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 94.43 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.28 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.25 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.63 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.44 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.34 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.14 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.60 | gold quality |
| mouth mucosa | UBERON:0003729 | 92.49 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.15 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.41 | gold quality |
| pylorus | UBERON:0001166 | 91.39 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 91.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.98 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.92 | gold quality |
| superior surface of tongue | UBERON:0007371 | 90.52 | gold quality |
| small intestine | UBERON:0002108 | 90.42 | gold quality |
| caput epididymis | UBERON:0004358 | 90.26 | gold quality |
| gingiva | UBERON:0001828 | 89.41 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.16 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 436.82 |
| E-CURD-114 | yes | 189.50 |
| E-GEOD-125970 | yes | 69.66 |
| E-GEOD-81547 | yes | 19.28 |
| E-HCAD-10 | yes | 17.64 |
| E-HCAD-1 | yes | 10.43 |
| E-GEOD-99795 | no | 28.53 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1
miRNA regulators (miRDB)
33 targeting FAM3B, 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-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-12135 | 98.99 | 70.26 | 1814 |
| HSA-MIR-219A-1-3P | 98.91 | 67.87 | 639 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
| HSA-MIR-6837-3P | 98.42 | 66.71 | 1149 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-6893-3P | 97.79 | 64.91 | 1238 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-510-5P | 97.66 | 65.82 | 916 |
| HSA-MIR-3620-5P | 97.42 | 63.95 | 792 |
| HSA-MIR-526B-5P | 97.41 | 67.99 | 1074 |
| HSA-MIR-335-5P | 97.10 | 68.12 | 1022 |
Literature-anchored findings (GeneRIF, showing 17)
- Localized to the islets of Langerhans. (PMID:12160727)
- Helices B and C and the second disulfide bond of PANDER are essential for PANDER-induced beta-cell death. (PMID:16114871)
- PANDER is secreted from 2 types of pancreatic cells, glucose stimulates its secretion in beta cell and primary islets but not in alpha-cells, it is likely cosecreted with insulin, and structure and conformation is vital for PANDER secretion. (PMID:16249448)
- These results suggest that FAM3B-258 promotes colon cancer cell invasion and metastasis through upregulation of Slug. (PMID:23059759)
- our studies demonstrated that silencing FAM3B promoted p53 phosphorylation and induced p53 accumulation by decreasing Mdm2 expression, which resulted in apoptotic cell death. (PMID:23246487)
- It is an important regulator of glucose and lipid metabolism and plays a role in the pathogenesis of nonalcoholic fatty liver disease.(review) (PMID:23855304)
- beta-cell-secreted PANDER regulated the hepatic insulin and lipogenenic signaling and impact overall glycemia. (PMID:24468680)
- in-vitro and in-vivo glucose is a potent stimulator of the PANDER promoter within the liver and this response may be facilitated by ChREBP. (PMID:26123584)
- Circulating level of pancreatic-derived factor (PANDER) in relation to the accumulation in metabolic syndrome suggested that persons with elevated levels of PANDER were associated with an increased risk of metabolic syndrome. (PMID:27181109)
- Data suggest that serum PANDER levels are significantly elevated in patients with long-standing type 2 diabetes as compared to patients with recently diagnosed type 2 diabetes and control subjects; serum PANDER levels vary according to degree of insulin resistance. (PMID:28161382)
- FAM3B overexpression contributes to increased resistance to cell death and tumor growth in nude mice. (PMID:29357840)
- Taken together, by activating pro-survival mechanisms FAM3B overexpression contributes to increased resistance to cell death and tumor growth in nude mice, highlighting a putative role for this cytokine in prostate cancer progression. (PMID:29357840)
- High FAM3B promotes progression of esophageal carcinoma via regulating the AKT-MDM2-p53 signalling axis and the epithelial-mesenchymal transition. (PMID:30565387)
- Increased pancreatic-derived factor (PANDER) levels in gestational diabetes mellitus. (PMID:30982368)
- Upregulation of FAM3B Promotes Cisplatin Resistance in Gastric Cancer by Inducing Epithelial-Mesenchymal Transition. (PMID:32442162)
- Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts. (PMID:37105387)
- Loss of feedback regulation between FAM3B and androgen receptor driving prostate cancer progression. (PMID:37847647)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fam3b | ENSMUSG00000022938 |
| rattus_norvegicus | Fam3b | ENSRNOG00000001962 |
| caenorhabditis_elegans | WBGENE00019786 |
Paralogs (3): FAM3A (ENSG00000071889), FAM3C (ENSG00000196937), FAM3D (ENSG00000198643)
Protein
Protein identifiers
Protein FAM3B — P58499 (reviewed: P58499)
Alternative names: Cytokine-like protein 2-21, Pancreatic-derived factor
All UniProt accessions (2): A8MTF8, P58499
UniProt curated annotations — full annotation on UniProt →
Function. Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.
Subcellular location. Secreted.
Tissue specificity. Highly expressed in the pancreas. Also found in the colon, kidney, prostate, small intestine and testis.
Post-translational modifications. 2 N-termini have been observed in the mature protein: the first at Glu-30, resulting from signal peptide cleavage, the second at Ser-46. O-glycosylated.
Similarity. Belongs to the FAM3 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P58499-1 | B | yes |
| P58499-2 | A | |
| P58499-3 | C |
RefSeq proteins (2): NP_478066, NP_996847 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039220 | FAM3 | Family |
| IPR039477 | ILEI/PANDER_dom | Domain |
Pfam: PF15711
UniProt features (10 total): glycosylation site 2, disulfide bond 2, splice variant 2, signal peptide 1, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P58499-F1 | 93.27 | 0.80 |
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 (2): 63–91, 69–229
Glycosylation sites (2): 120, 208
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 91 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_INSULIN_SECRETION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, CHANDRAN_METASTASIS_DN, GOBP_CELL_CELL_SIGNALING, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_SECRETION, GOBP_SIGNAL_RELEASE, SANSOM_APC_TARGETS_DN, GOMF_CYTOKINE_ACTIVITY, VECCHI_GASTRIC_CANCER_EARLY_DN, GOMF_SIGNALING_RECEPTOR_BINDING, chr21q22
GO Biological Process (3): apoptotic process (GO:0006915), insulin secretion (GO:0030073), signal transduction (GO:0007165)
GO Molecular Function (3): cytokine activity (GO:0005125), carbohydrate binding (GO:0030246), protein binding (GO:0005515)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| protein secretion | 1 |
| peptide hormone secretion | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
444 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM3B | CWC15 | Q9P013 | 862 |
| FAM3B | MPLKIP | Q8TAP9 | 784 |
| FAM3B | CTTNBP2 | Q8WZ74 | 771 |
| FAM3B | ASZ1 | Q8WWH4 | 697 |
| FAM3B | RPGR | Q92834 | 693 |
| FAM3B | DNAJC28 | Q9NX36 | 662 |
| FAM3B | SUGCT | Q9HAC7 | 609 |
| FAM3B | MYOM2 | P54296 | 554 |
| FAM3B | FAM120C | Q9NX05 | 521 |
| FAM3B | MAVS | Q7Z434 | 508 |
| FAM3B | FUT3 | P21217 | 476 |
| FAM3B | SH2D3C | Q8N5H7 | 475 |
| FAM3B | GYPC | P04921 | 452 |
| FAM3B | SH2D3A | Q9BRG2 | 447 |
| FAM3B | CBR1 | P16152 | 432 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FUT3 | FAM3B | psi-mi:“MI:0915”(physical association) | 0.670 |
| FAM3B | FUT3 | psi-mi:“MI:0914”(association) | 0.670 |
| FAM3B | GLE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM3B | LMNA | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM3B | LRP5 | psi-mi:“MI:0914”(association) | 0.530 |
| MEP1B | FAM3B | psi-mi:“MI:0915”(physical association) | 0.370 |
| FAM3B | FUT3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): TM9SF4 (Affinity Capture-MS), ITPA (Affinity Capture-MS), C9orf89 (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), LRP5 (Affinity Capture-MS), ANKRD46 (Affinity Capture-MS), CBWD1 (Affinity Capture-MS), FAM3B (Synthetic Lethality), FAM3B (Two-hybrid), MTX2 (Affinity Capture-MS), LRP5 (Affinity Capture-MS), TM9SF4 (Affinity Capture-MS), ITPA (Affinity Capture-MS), C9orf89 (Affinity Capture-MS), FUT3 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I3NGV2, A2VE47, D3Z2R5, F1N2K1, O95479, P56201, P58499, Q08DJ7, Q09200, Q0VCN6, Q10468, Q1JPD2, Q2TBP8, Q32KV6, Q3SZL5, Q3U2U7, Q5R5N9, Q5VSG8, Q5XI31, Q5XIA1, Q5ZJH2, Q642A7, Q6MG55, Q6NZ07, Q6P1J0, Q6P6S4, Q6PBN5, Q6PD26, Q7TMC8, Q7Z3D6, Q86S40, Q8BXQ2, Q8CFX1, Q8JHZ8, Q8N0W3, Q8NHY0, Q8QZW3, Q8R553, Q8VCM8, Q8VDL4
Diamond homologs: A5PKI3, B0BLS9, P58499, P97805, P98173, Q5R5C3, Q6GQC1, Q7ZYY4, Q810F4, Q8BI06, Q8WUJ3, Q91VU0, Q92520, Q96BQ1, Q9D309, Q9D8T0, Q5EAB6, Q5RCB9, Q5XIN7, Q8WZA1, Q91X88, A3KPQ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 14 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 545244 | NC_000021.9:g.(?38981673)(41568791_?)del | Likely pathogenic |
SpliceAI
1320 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:41316896:GTG:G | donor_gain | 1.0000 |
| 21:41316898:GGTG:G | donor_loss | 1.0000 |
| 21:41323063:AAAGG:A | donor_loss | 1.0000 |
| 21:41323064:AAGG:A | donor_loss | 1.0000 |
| 21:41323067:G:GG | donor_gain | 1.0000 |
| 21:41323068:T:A | donor_loss | 1.0000 |
| 21:41338502:G:GG | donor_gain | 1.0000 |
| 21:41347096:ACAAG:A | donor_loss | 1.0000 |
| 21:41347097:CAAGG:C | donor_loss | 1.0000 |
| 21:41347098:AAGGT:A | donor_loss | 1.0000 |
| 21:41347099:AGGT:A | donor_loss | 1.0000 |
| 21:41347100:GGT:G | donor_loss | 1.0000 |
| 21:41347101:GTG:G | donor_loss | 1.0000 |
| 21:41347102:T:A | donor_loss | 1.0000 |
| 21:41348590:A:AG | acceptor_gain | 1.0000 |
| 21:41348591:G:GG | acceptor_gain | 1.0000 |
| 21:41357103:CACA:C | acceptor_loss | 1.0000 |
| 21:41357104:ACAG:A | acceptor_loss | 1.0000 |
| 21:41357105:C:G | acceptor_gain | 1.0000 |
| 21:41357105:CAGAT:C | acceptor_loss | 1.0000 |
| 21:41357106:A:AG | acceptor_gain | 1.0000 |
| 21:41357106:A:AT | acceptor_loss | 1.0000 |
| 21:41357107:G:GG | acceptor_gain | 1.0000 |
| 21:41316894:TGGTG:T | donor_gain | 0.9900 |
| 21:41316895:GGTGG:G | donor_gain | 0.9900 |
| 21:41316899:G:GG | donor_gain | 0.9900 |
| 21:41322920:CAG:C | acceptor_loss | 0.9900 |
| 21:41322921:A:AG | acceptor_gain | 0.9900 |
| 21:41322921:A:T | acceptor_loss | 0.9900 |
| 21:41322921:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
1549 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:41345718:T:C | F127L | 0.995 |
| 21:41345720:T:A | F127L | 0.995 |
| 21:41345720:T:G | F127L | 0.995 |
| 21:41338401:T:A | C63S | 0.994 |
| 21:41338402:G:C | C63S | 0.994 |
| 21:41348632:A:C | S176R | 0.994 |
| 21:41348634:T:A | S176R | 0.994 |
| 21:41348634:T:G | S176R | 0.994 |
| 21:41348668:T:A | W188R | 0.994 |
| 21:41348668:T:C | W188R | 0.994 |
| 21:41348670:G:C | W188C | 0.994 |
| 21:41348670:G:T | W188C | 0.994 |
| 21:41338440:T:G | Y76D | 0.993 |
| 21:41338452:A:C | S80R | 0.992 |
| 21:41338454:C:A | S80R | 0.992 |
| 21:41338454:C:G | S80R | 0.992 |
| 21:41338485:T:A | C91S | 0.991 |
| 21:41338486:G:C | C91S | 0.991 |
| 21:41344529:T:A | V114D | 0.991 |
| 21:41344523:C:A | A112D | 0.989 |
| 21:41348633:G:T | S176I | 0.989 |
| 21:41348665:A:C | S187R | 0.989 |
| 21:41348667:C:A | S187R | 0.989 |
| 21:41348667:C:G | S187R | 0.989 |
| 21:41348656:T:C | F184L | 0.988 |
| 21:41348658:C:A | F184L | 0.988 |
| 21:41348658:C:G | F184L | 0.988 |
| 21:41344511:G:T | G108V | 0.987 |
| 21:41348660:G:C | R185T | 0.987 |
| 21:41357149:G:C | W220C | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000000431 (21:41321285 G>A), RS1000111401 (21:41344319 G>A), RS1000353278 (21:41349799 G>T), RS1000417134 (21:41343981 G>A,C), RS1000437671 (21:41304077 G>A), RS1000565673 (21:41342689 T>A), RS1000661373 (21:41311522 A>G,T), RS1000717129 (21:41345060 C>A,T), RS1000748560 (21:41345375 G>C), RS1000780328 (21:41335189 CT>C), RS1000872195 (21:41303807 G>A,C,T), RS1000961122 (21:41340860 T>A), RS1000996172 (21:41306031 G>A), RS1001086234 (21:41333492 G>A), RS1001117223 (21:41312135 G>A)
Disease associations
OMIM: gene MIM:608617 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001808_9 | Tumor biomarkers | 3.000000e-22 |
| GCST002110_4 | Glycemic traits (pregnancy) | 6.000000e-16 |
| GCST002485_2 | Elevated serum carcinoembryonic antigen levels | 2.000000e-08 |
| GCST006585_2271 | Blood protein levels | 3.000000e-43 |
| GCST012488_17 | L1-L4 bone mineral density x serum urate levels interaction | 8.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005127 | cancer biomarker measurement |
| EFO:0005187 | C-peptide measurement |
| EFO:0005760 | serum carcinoembryonic antigen measurement |
| EFO:0004531 | urate measurement |
| EFO:0007701 | spine bone mineral density |
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)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | affects expression | 1 |
| terbufos | increases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| K 7174 | decreases 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 |
| bisphenol S | decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Azathioprine | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Asbestos, Serpentine | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism