ARL15
gene geneOn this page
Also known as FLJ20051
Summary
ARL15 (ARF like GTPase 15, HGNC:25945) is a protein-coding gene on chromosome 5q11.2, encoding ADP-ribosylation factor-like protein 15 (Q9NXU5).
Predicted to enable GTP binding activity and GTPase activity. Located in extracellular exosome.
Source: NCBI Gene 54622 — RefSeq curated summary.
At a glance
- GWAS associations: 83
- Clinical variants (ClinVar): 33 total — 2 pathogenic
- MANE Select transcript:
NM_019087
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25945 |
| Approved symbol | ARL15 |
| Name | ARF like GTPase 15 |
| Location | 5q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20051 |
| Ensembl gene | ENSG00000185305 |
| Ensembl biotype | protein_coding |
| Entrez | 54622 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000502271, ENST00000504924, ENST00000505383, ENST00000505630, ENST00000507646, ENST00000510591
RefSeq mRNA: 1 — MANE Select: NM_019087
NM_019087
CCDS: CCDS54850
Canonical transcript exons
ENST00000504924 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002034241 | 53883942 | 53886713 |
| ENSE00003524516 | 54154580 | 54154639 |
| ENSE00003545956 | 54310432 | 54310573 |
| ENSE00003577189 | 54113202 | 54113410 |
| ENSE00003618864 | 54171784 | 54171928 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 96.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5584 / max 570.0253, expressed in 1799 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 61651 | 10.8499 | 1749 |
| 61650 | 8.2043 | 1682 |
| 61649 | 2.0236 | 1015 |
| 61648 | 1.0807 | 680 |
| 61646 | 0.2479 | 102 |
| 61647 | 0.1520 | 70 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 96.42 | gold quality |
| renal medulla | UBERON:0000362 | 94.21 | gold quality |
| visceral pleura | UBERON:0002401 | 93.31 | gold quality |
| vena cava | UBERON:0004087 | 91.74 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.48 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.33 | gold quality |
| skin of hip | UBERON:0001554 | 91.00 | gold quality |
| upper leg skin | UBERON:0004262 | 90.17 | gold quality |
| parietal pleura | UBERON:0002400 | 89.82 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.75 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.65 | gold quality |
| seminal vesicle | UBERON:0000998 | 89.62 | gold quality |
| pleura | UBERON:0000977 | 89.38 | gold quality |
| gingiva | UBERON:0001828 | 89.23 | gold quality |
| mammary duct | UBERON:0001765 | 88.67 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.55 | gold quality |
| placenta | UBERON:0001987 | 88.27 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.27 | gold quality |
| mammalian vulva | UBERON:0000997 | 88.12 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.86 | gold quality |
| gall bladder | UBERON:0002110 | 87.47 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 87.37 | gold quality |
| saphenous vein | UBERON:0007318 | 87.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.07 | gold quality |
| urethra | UBERON:0000057 | 87.03 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.85 | gold quality |
| nipple | UBERON:0002030 | 86.85 | gold quality |
| pericardium | UBERON:0002407 | 86.59 | gold quality |
| parotid gland | UBERON:0001831 | 86.45 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.34 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11268 | yes | 14550.78 |
| E-ANND-2 | yes | 11176.09 |
| E-GEOD-131882 | yes | 5812.06 |
| E-CURD-119 | yes | 5383.78 |
| E-GEOD-135922 | yes | 368.18 |
| E-ANND-3 | yes | 4.68 |
| E-MTAB-10137 | yes | 4.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
144 targeting ARL15, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
Literature-anchored findings (GeneRIF, showing 12)
- findings identify a novel protein, ARL15, which influences circulating adiponectin levels and may impact upon CHD risk (PMID:20011104)
- In this first GWAS of rheumatoid arthritis among North Indians, ARL15 emerged as a novel genetic risk factor in addition to the classic HLA locus. (PMID:23918589)
- The SNPs in ADP-ribosylation factor-like protein 15 (ARL15) and the T-cadherin (CDH13) genes did not exhibit significant association with individual metabolic traits in the T2DM and NDM groups. (PMID:24688318)
- These findings indicated that there may be a racial/ethnic- and/or sex-specific association of the ARL15 rs6450176 single nucleotide polymorphism and serum lipid levels. (PMID:26722494)
- ARL15 plays a role in adipocyte differentiation and adiponectin secretion (PMID:29242557)
- The ARL15 and HLA-DMA gene polymorphisms are associated with RA risk in Northwestern Han Chinese population. (PMID:29382430)
- ARL15 expression in rheumatoid arthritis synovial fibroblasts (RASF) play likely role in inflammation and metabolic syndromes through a TNF independent pathway. (PMID:29465355)
- Computational insight into the three-dimensional structure of ADP ribosylation factor like protein 15, a novel susceptibility gene for rheumatoid arthritis. (PMID:33356902)
- Magnesium homeostasis is regulated by ARL15 through N-glycosylations of CNNMs. (PMID:34089346)
- Correlation between an intronic SNP genotype and ARL15 level in rheumatoid arthritis. (PMID:34187973)
- Adenosine diphosphate-ribosylation factor-like 15 can regulate glycolysis and lipogenesis related genes in colon cancer. (PMID:36302536)
- ARL15 and its Multiple Disease Association: Emerging Functions and Potential Therapeutic Application. (PMID:37718516)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl15b | ENSDARG00000057995 |
| danio_rerio | arl15a | ENSDARG00000076040 |
| mus_musculus | Arl15 | ENSMUSG00000042348 |
| rattus_norvegicus | Arl15 | ENSRNOG00000068448 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 15 — Q9NXU5 (reviewed: Q9NXU5)
Alternative names: ADP-ribosylation factor-related protein 2
All UniProt accessions (3): Q9NXU5, A0A0B4J222, R4GN67
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (1): NP_061960* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR042292 | ARL15 | Family |
Pfam: PF00025
UniProt features (18 total): helix 7, strand 5, binding site 3, chain 1, turn 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8F6D | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NXU5-F1 | 88.12 | 0.73 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 39–46; 82–86; 142–145
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 160 (showing top):
GCACCTT_MIR18A_MIR18B, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, TATTATA_MIR374, GOBP_BONE_MINERALIZATION, GOBP_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_OSSIFICATION, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, GOBP_ADIPOSE_TISSUE_DEVELOPMENT, chr5q11, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_GTPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, FIGUEROA_AML_METHYLATION_CLUSTER_4_UP
GO Biological Process (1): biological_process (GO:0008150)
GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), molecular_function (GO:0003674), protein binding (GO:0005515)
GO Cellular Component (1): extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1883 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL15 | ANKRD55 | Q3KP44 | 581 |
| ARL15 | LYPLAL1 | Q5VWZ2 | 581 |
| ARL15 | FAM13A | O94988 | 546 |
| ARL15 | GRB14 | Q14449 | 542 |
| ARL15 | PEPD | P12955 | 506 |
| ARL15 | PTP4A1 | Q93096 | 506 |
| ARL15 | PTP4A2 | Q12974 | 499 |
| ARL15 | MBLAC2 | Q68D91 | 483 |
| ARL15 | GXYLT2 | A0PJZ3 | 453 |
| ARL15 | PTPRO | Q16827 | 449 |
| ARL15 | COBLL1 | Q53SF7 | 447 |
| ARL15 | SNAPIN | O95295 | 435 |
| ARL15 | ADIPOQ | Q15848 | 433 |
| ARL15 | CNNM1 | Q9NRU3 | 431 |
| ARL15 | ZNF664 | Q8N3J9 | 416 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| UNC119 | ARL15 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PDE6D | ARL15 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2K | ZFTRAF1 | psi-mi:“MI:0914”(association) | 0.620 |
| MEOX2 | ARL15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL15 | SLC25A20 | psi-mi:“MI:0914”(association) | 0.530 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| PTP4A1 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRPV2 | ARL15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC37A3 | CYB5R3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF333 | ASPM | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| HCST | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| S100A2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| APBA1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| CALML3 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A7 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| NHERF1 | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| CD160 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC11 | TSPAN15 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC37A3 | APOB | psi-mi:“MI:0914”(association) | 0.350 |
| ARL15 | OXSR1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (133): CNNM1 (Affinity Capture-MS), IREB2 (Affinity Capture-MS), TRPM7 (Affinity Capture-MS), LONRF2 (Affinity Capture-MS), ARL15 (Affinity Capture-MS), FBXO10 (Affinity Capture-MS), CNNM4 (Affinity Capture-MS), TYW1B (Affinity Capture-MS), SLC25A20 (Affinity Capture-MS), CNNM2 (Affinity Capture-MS), ARL15 (Affinity Capture-MS), ARL15 (Affinity Capture-MS), RTEL1 (Affinity Capture-MS), NOMO1 (Affinity Capture-MS), AGPAT3 (Affinity Capture-MS)
ESM2 similar proteins: A1A5C7, A5D7B1, A6H7A0, A6NCF5, A6QLN9, A8MUP2, D3YYU8, D3ZZ80, O43688, O75147, O88843, P08887, Q14CX5, Q3SZQ2, Q3UHH2, Q58CT4, Q5EA19, Q5R4Q7, Q5R7S9, Q5RCI5, Q5RFN0, Q5SP67, Q5SUV1, Q642A6, Q6IA17, Q6PCB0, Q7TPB4, Q86TI4, Q8BGR6, Q8BZI6, Q8K5A4, Q8N5I2, Q8N653, Q8R2Z5, Q8TBF2, Q8VE98, Q92737, Q969P0, Q96NJ5, Q96NT3
Diamond homologs: A1CRG9, A1D4D1, A3LTA2, A8INQ0, A8ISN6, B5FYQ0, H2L0N8, O04266, O04267, O04834, O08697, O45379, P0C950, P0C951, P0CM16, P0CM17, P0CR30, P0CR31, P20606, P22274, P25160, P36404, P36405, P36536, P37996, P49703, P52885, P56559, P61208, Q01474, Q01475, Q02804, Q06849, Q09767, Q0CUN7, Q0VC18, Q10943, Q13795, Q19705, Q1MTE5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 59608 | GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 | Pathogenic |
| 979674 | GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 | Pathogenic |
SpliceAI
5191 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:53886711:GATC:G | acceptor_loss | 1.0000 |
| 5:53886712:ATC:A | acceptor_loss | 1.0000 |
| 5:53886713:TCTT:T | acceptor_loss | 1.0000 |
| 5:53886714:C:CC | acceptor_gain | 1.0000 |
| 5:53886714:C:T | acceptor_loss | 1.0000 |
| 5:53886715:T:C | acceptor_gain | 1.0000 |
| 5:53886715:T:G | acceptor_loss | 1.0000 |
| 5:53886715:T:TC | acceptor_gain | 1.0000 |
| 5:53954431:A:AC | donor_gain | 1.0000 |
| 5:53954432:C:CC | donor_gain | 1.0000 |
| 5:53954435:T:A | donor_gain | 1.0000 |
| 5:54016244:T:TA | donor_gain | 1.0000 |
| 5:54113409:CC:C | acceptor_gain | 1.0000 |
| 5:54113410:CC:C | acceptor_gain | 1.0000 |
| 5:54154581:T:TA | donor_gain | 1.0000 |
| 5:54171780:CCAC:C | donor_loss | 1.0000 |
| 5:54171783:CCTG:C | donor_loss | 1.0000 |
| 5:54171925:AACA:A | acceptor_gain | 1.0000 |
| 5:54171927:CA:C | acceptor_gain | 1.0000 |
| 5:54171929:C:CC | acceptor_gain | 1.0000 |
| 5:54171929:CT:C | acceptor_loss | 1.0000 |
| 5:54171930:T:G | acceptor_loss | 1.0000 |
| 5:54171933:C:CT | acceptor_gain | 1.0000 |
| 5:53886709:TTGAT:T | acceptor_gain | 0.9900 |
| 5:53886710:TGAT:T | acceptor_gain | 0.9900 |
| 5:53886711:GAT:G | acceptor_gain | 0.9900 |
| 5:53891803:T:TA | donor_gain | 0.9900 |
| 5:53891804:C:A | donor_gain | 0.9900 |
| 5:53891810:A:C | donor_gain | 0.9900 |
| 5:53923145:G:GA | donor_gain | 0.9900 |
AlphaMissense
1327 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:54154635:A:C | F66L | 1.000 |
| 5:54154635:A:T | F66L | 1.000 |
| 5:54154637:A:G | F66L | 1.000 |
| 5:54113387:A:G | W93R | 0.999 |
| 5:54113387:A:T | W93R | 0.999 |
| 5:54154590:T:A | K81N | 0.999 |
| 5:54154590:T:G | K81N | 0.999 |
| 5:54154636:A:G | F66S | 0.999 |
| 5:54113296:A:G | L123P | 0.998 |
| 5:54113353:A:T | I104K | 0.998 |
| 5:54113359:C:T | G102E | 0.998 |
| 5:54113360:C:A | G102W | 0.998 |
| 5:54113385:C:A | W93C | 0.998 |
| 5:54113385:C:G | W93C | 0.998 |
| 5:54154585:A:T | L83H | 0.998 |
| 5:54171843:T:A | K45I | 0.998 |
| 5:54171868:A:G | C37R | 0.998 |
| 5:54113248:A:T | I139K | 0.997 |
| 5:54113360:C:G | G102R | 0.997 |
| 5:54113360:C:T | G102R | 0.997 |
| 5:54154639:C:T | G65D | 0.997 |
| 5:54113269:A:G | L132S | 0.996 |
| 5:54113337:A:C | S109R | 0.996 |
| 5:54113337:A:T | S109R | 0.996 |
| 5:54113339:T:G | S109R | 0.996 |
| 5:54113349:A:C | F105L | 0.996 |
| 5:54113349:A:T | F105L | 0.996 |
| 5:54113351:A:G | F105L | 0.996 |
| 5:54113353:A:C | I104R | 0.996 |
| 5:54154582:C:T | G84E | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000002505 (5:53892937 G>A,C), RS1000003530 (5:54150721 C>G,T), RS1000003904 (5:54011151 T>G), RS1000011793 (5:54294424 T>C), RS1000014241 (5:54110652 C>T), RS1000033808 (5:53892554 T>G), RS1000040813 (5:53962786 C>T), RS1000060572 (5:54242285 T>C), RS1000073012 (5:54287859 A>G), RS1000080944 (5:54177972 T>G), RS1000090673 (5:54133301 A>T), RS1000112509 (5:54229662 T>A), RS1000121028 (5:54301017 T>C), RS1000125041 (5:53944436 C>T), RS1000130732 (5:54010284 T>C,G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
83 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000538_2 | Adiponectin levels | 3.000000e-08 |
| GCST000755_8 | HDL cholesterol | 5.000000e-08 |
| GCST001465_7 | Adiponectin levels | 6.000000e-08 |
| GCST002223_47 | HDL cholesterol | 7.000000e-10 |
| GCST002300_2 | Rheumatoid arthritis | 7.000000e-06 |
| GCST002352_45 | Type 2 diabetes | 7.000000e-09 |
| GCST002477_5 | Alcohol dependence (age at onset) | 1.000000e-08 |
| GCST002945_42 | Emphysema imaging phenotypes | 8.000000e-07 |
| GCST003372_46 | Glomerular filtration rate (creatinine) | 2.000000e-07 |
| GCST003542_137 | Night sleep phenotypes | 1.000000e-06 |
| GCST003996_37 | Monobrow | 2.000000e-17 |
| GCST004063_123 | Waist circumference adjusted for body mass index | 4.000000e-08 |
| GCST004184_3 | Lung function (FVC) | 3.000000e-12 |
| GCST004232_66 | HDL cholesterol levels | 1.000000e-09 |
| GCST004292_44 | Glomerular filtration rate (creatinine) | 6.000000e-10 |
| GCST004611_123 | High light scatter reticulocyte count | 5.000000e-10 |
| GCST004619_168 | Reticulocyte fraction of red cells | 1.000000e-11 |
| GCST004622_174 | Reticulocyte count | 8.000000e-15 |
| GCST004860_76 | Alcoholic chronic pancreatitis | 3.000000e-06 |
| GCST004894_127 | Type 2 diabetes | 3.000000e-09 |
| GCST004894_52 | Type 2 diabetes | 3.000000e-06 |
| GCST005124_1 | Urinary magnesium-to-creatinine ratio | 2.000000e-11 |
| GCST005194_243 | Coronary artery disease | 2.000000e-07 |
| GCST005204_1 | Systolic blood pressure (dietary potassium intake interaction) | 1.000000e-09 |
| GCST005414_4 | Type 2 diabetes | 2.000000e-07 |
| GCST006224_2 | Right lateral prefrontal cortical growth | 5.000000e-06 |
| GCST006586_15 | Urinary albumin excretion | 8.000000e-09 |
| GCST006611_145 | HDL cholesterol | 5.000000e-09 |
| GCST006613_127 | Triglycerides | 2.000000e-15 |
| GCST006867_39 | Type 2 diabetes | 1.000000e-11 |
EFO canonical traits (27, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004502 | adiponectin measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004847 | age at onset |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0007906 | synophrys measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004312 | vital capacity |
| EFO:0007986 | reticulocyte count |
| EFO:0008449 | magnesium:creatinine ratio measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0008470 | dietary potassium intake measurement |
| EFO:0004285 | albuminuria |
| EFO:0004530 | triglyceride measurement |
| EFO:0003924 | hair color |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0009767 | glycine measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0007710 | cognitive decline measurement |
| EFO:0004845 | magnesium measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0005000 | leptin measurement |
| EFO:0004340 | body mass index |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, affects expression, increases abundance | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 3 |
| Valproic Acid | decreases methylation, increases expression | 3 |
| sodium arsenite | affects expression, decreases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| dimethylarsinous acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Flavoring Agents | affects cotreatment, increases expression | 1 |
| Glycerol | affects cotreatment, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Nicotine | affects cotreatment, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 1 |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence, alcoholic pancreatitis