NAALADL2
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Summary
NAALADL2 (N-acetylated alpha-linked acidic dipeptidase like 2, HGNC:23219) is a protein-coding gene on chromosome 3q26.31, encoding Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 (Q58DX5). May be catalytically inactive.
Predicted to act upstream of or within response to bacterium. Located in nucleoplasm.
Source: NCBI Gene 254827 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 177 total — 1 likely-pathogenic
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_207015
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23219 |
| Approved symbol | NAALADL2 |
| Name | N-acetylated alpha-linked acidic dipeptidase like 2 |
| Location | 3q26.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000177694 |
| Ensembl biotype | protein_coding |
| OMIM | 608806 |
| Entrez | 254827 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding_CDS_not_defined, 2 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000414826, ENST00000434257, ENST00000454872, ENST00000473253, ENST00000478624, ENST00000481679, ENST00000482228, ENST00000485853, ENST00000489299, ENST00000489729, ENST00000491329, ENST00000495900
RefSeq mRNA: 1 — MANE Select: NM_207015
NM_207015
CCDS: CCDS46960
Canonical transcript exons
ENST00000454872 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001431711 | 175737306 | 175737399 |
| ENSE00001434155 | 175755220 | 175755418 |
| ENSE00001694236 | 174859334 | 174859450 |
| ENSE00003466642 | 175324175 | 175324325 |
| ENSE00003472529 | 175471639 | 175471758 |
| ENSE00003513222 | 175576041 | 175576187 |
| ENSE00003534674 | 175627291 | 175627386 |
| ENSE00003539606 | 175256411 | 175256530 |
| ENSE00003582619 | 175233931 | 175234204 |
| ENSE00003618219 | 175466979 | 175467184 |
| ENSE00003634427 | 175096790 | 175097291 |
| ENSE00003660982 | 175463401 | 175463493 |
| ENSE00003674142 | 175447229 | 175447372 |
| ENSE00003767036 | 175803005 | 175810548 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 93.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4573 / max 152.7241, expressed in 1375 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 39870 | 4.2431 | 1310 |
| 39873 | 1.0923 | 206 |
| 39869 | 0.6438 | 380 |
| 39875 | 0.3963 | 127 |
| 39874 | 0.0818 | 47 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 93.87 | gold quality |
| colonic epithelium | UBERON:0000397 | 82.32 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.87 | gold quality |
| sural nerve | UBERON:0015488 | 79.98 | gold quality |
| tendon | UBERON:0000043 | 79.66 | gold quality |
| gall bladder | UBERON:0002110 | 79.42 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.84 | gold quality |
| ventricular zone | UBERON:0003053 | 77.50 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 76.69 | gold quality |
| adrenal tissue | UBERON:0018303 | 76.04 | gold quality |
| popliteal artery | UBERON:0002250 | 75.67 | gold quality |
| tibial artery | UBERON:0007610 | 75.64 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 75.63 | gold quality |
| aorta | UBERON:0000947 | 75.07 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 74.95 | gold quality |
| left testis | UBERON:0004533 | 74.84 | gold quality |
| right testis | UBERON:0004534 | 74.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 74.66 | gold quality |
| ascending aorta | UBERON:0001496 | 74.61 | gold quality |
| rectum | UBERON:0001052 | 74.51 | gold quality |
| tibial nerve | UBERON:0001323 | 74.15 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.08 | gold quality |
| minor salivary gland | UBERON:0001830 | 73.95 | gold quality |
| right coronary artery | UBERON:0001625 | 73.94 | gold quality |
| islet of Langerhans | UBERON:0000006 | 73.92 | gold quality |
| testis | UBERON:0000473 | 73.55 | gold quality |
| endocervix | UBERON:0000458 | 72.96 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 72.95 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 72.90 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 2415.07 |
| E-CURD-119 | yes | 43.10 |
| E-HCAD-10 | yes | 18.27 |
| E-ANND-3 | yes | 8.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
224 targeting NAALADL2, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 2)
- Data suggest that changes in expression of N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) can impact upon a number of pro-oncogenic pathways and processes, making it a useful biomarker for both diagnosis and prognosis. (PMID:24240687)
- GWAS showed intestinal Behcet’s disease-specific associations with YIPF7 gene locus rs6838327. Down-regulation of YIPF7 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo. (PMID:28045058)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Naaladl2 | ENSMUSG00000102758 |
| rattus_norvegicus | Naaladl2 | ENSRNOG00000065021 |
Paralogs (5): TFRC (ENSG00000072274), NAALAD2 (ENSG00000077616), FOLH1 (ENSG00000086205), TFR2 (ENSG00000106327), NAALADL1 (ENSG00000168060)
Protein
Protein identifiers
Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 — Q58DX5 (reviewed: Q58DX5)
All UniProt accessions (3): Q58DX5, C9JQ86, Q6H9J7
UniProt curated annotations — full annotation on UniProt →
Function. May be catalytically inactive.
Subcellular location. Membrane.
Tissue specificity. Expressed at higher level in kidney and placenta. In embryo, it is mainly confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas.
Miscellaneous. The gene maps to 3q26.31, a region associated with Cornelia de Lange syndrome. However, PubMed:15168106 failed to identify specific mutations in a panel of DNA samples from patients with Cornelia de Lange syndrome.
Similarity. Belongs to the peptidase M28 family. M28B subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q58DX5-1 | 1 | yes |
| Q58DX5-2 | 2 |
RefSeq proteins (1): NP_996898* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007484 | Peptidase_M28 | Domain |
| IPR036757 | TFR-like_dimer_dom_sf | Homologous_superfamily |
| IPR039373 | Peptidase_M28B | Family |
| IPR046450 | PA_dom_sf | Homologous_superfamily |
Pfam: PF04389
UniProt features (19 total): sequence variant 6, glycosylation site 4, splice variant 3, topological domain 2, chain 1, transmembrane region 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q58DX5-F1 | 78.78 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 92
Glycosylation sites (4): 295, 373, 534, 759
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 128 (showing top):
chr3q26, NKX62_Q2, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, IRF_Q6, TATA_C, HNF1_C, FREAC4_01, RYTTCCTG_ETS2_B, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, XU_GH1_AUTOCRINE_TARGETS_DN, ATGTTTC_MIR494, TGGAAA_NFAT_Q4_01, TAATTA_CHX10_01, GOBP_RESPONSE_TO_BACTERIUM, STAMBOLSKY_RESPONSE_TO_VITAMIN_D3_DN
GO Biological Process (1): response to bacterium (GO:0009617)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleoplasm (GO:0005654), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| response to other organism | 1 |
| binding | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAALADL2 | NIPBL | Q6KC79 | 716 |
| NAALADL2 | SMC1A | Q14683 | 640 |
| NAALADL2 | PAPPA | Q13219 | 588 |
| NAALADL2 | SMC3 | Q9UQE7 | 587 |
| NAALADL2 | CDH13 | P55290 | 569 |
| NAALADL2 | LNX1 | Q8TBB1 | 558 |
| NAALADL2 | TCP1 | P17987 | 542 |
| NAALADL2 | TAFA2 | Q8N3H0 | 525 |
| NAALADL2 | ZFHX3 | Q15911 | 525 |
| NAALADL2 | ITPKC | Q96DU7 | 494 |
| NAALADL2 | CSMD1 | Q96PZ7 | 472 |
| NAALADL2 | KBTBD12 | Q3ZCT8 | 465 |
| NAALADL2 | PPP1R14C | Q8TAE6 | 464 |
| NAALADL2 | YIPF7 | Q8N8F6 | 461 |
| NAALADL2 | TMEM117 | Q9H0C3 | 460 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAALADL2 | GPR25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRM2 | NAALADL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAALADL2 | LAPTM4B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC30A3 | NAALADL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ITM2B | NAALADL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAALADL2 | GRM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAALADL2 | SLC30A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR25 | NAALADL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAALADL2 | ITM2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAALADL2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| NAALADL2 | IGSF3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (34): NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), NAALADL2 (Two-hybrid), SCAP (Affinity Capture-MS), KLC2 (Affinity Capture-MS), NAALAD2 (Affinity Capture-MS), KCTD17 (Affinity Capture-MS), IGSF3 (Affinity Capture-MS), ERBB2 (Affinity Capture-MS), KCNJ8 (Affinity Capture-MS), CELSR2 (Affinity Capture-MS), SCARB2 (Affinity Capture-MS), HLA-DRB1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S4FGH1, A0A7H0DN13, A4KX74, A4KX75, A8WQV9, G5EBL2, G5EBY8, G5ED05, G5ED65, G5EGA9, H2KZ72, H2KZM6, H2KZU7, I1FQB6, O14138, O45201, O45879, P12393, P13731, P16708, P18384, P18475, P20532, P21814, P33831, P34751, P41361, P46201, P46202, P46557, P54631, Q09219, Q09245, Q09271, Q0E8C8, Q17405, Q17678, Q18143, Q2KJH6, Q58DX5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 140 |
| Likely benign | 11 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 694264 | GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072) | Likely pathogenic |
SpliceAI
1644 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:175077860:G:GT | donor_gain | 1.0000 |
| 3:175096785:CACAG:C | acceptor_loss | 1.0000 |
| 3:175096788:AGG:A | acceptor_loss | 1.0000 |
| 3:174963576:T:G | acceptor_gain | 0.9900 |
| 3:175053540:TTTC:T | donor_gain | 0.9900 |
| 3:175077889:A:T | donor_gain | 0.9900 |
| 3:175096788:A:AG | acceptor_gain | 0.9900 |
| 3:175096788:AG:A | acceptor_gain | 0.9900 |
| 3:175096789:G:GA | acceptor_gain | 0.9900 |
| 3:175096789:GG:G | acceptor_gain | 0.9900 |
| 3:175096789:GGT:G | acceptor_gain | 0.9900 |
| 3:175096789:GGTA:G | acceptor_gain | 0.9900 |
| 3:175096789:GGTAA:G | acceptor_gain | 0.9900 |
| 3:175077906:G:GT | donor_gain | 0.9800 |
| 3:175096780:A:AG | acceptor_gain | 0.9800 |
| 3:175096786:A:AG | acceptor_gain | 0.9800 |
| 3:175096786:ACAG:A | acceptor_gain | 0.9800 |
| 3:175096787:C:G | acceptor_gain | 0.9800 |
| 3:175097287:TTCAG:T | donor_loss | 0.9700 |
| 3:175097288:TCAGG:T | donor_loss | 0.9700 |
| 3:175097290:AGGTA:A | donor_loss | 0.9700 |
| 3:175097291:GGTA:G | donor_loss | 0.9700 |
| 3:175097292:GTAG:G | donor_loss | 0.9700 |
| 3:175097293:T:A | donor_loss | 0.9700 |
| 3:175053534:A:G | donor_gain | 0.9600 |
| 3:175053541:TTCA:T | donor_gain | 0.9500 |
| 3:175029304:AG:A | donor_gain | 0.9400 |
| 3:175096781:T:G | acceptor_gain | 0.9400 |
| 3:174919491:TTC:T | donor_gain | 0.9300 |
| 3:174951063:A:AG | donor_gain | 0.9300 |
AlphaMissense
5238 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:175467117:G:C | R489P | 0.994 |
| 3:175233995:T:A | W204R | 0.988 |
| 3:175233995:T:C | W204R | 0.988 |
| 3:175256493:C:A | A301E | 0.984 |
| 3:175471739:T:C | L545P | 0.984 |
| 3:175467137:T:A | W496R | 0.983 |
| 3:175467137:T:C | W496R | 0.983 |
| 3:175755364:T:C | L712P | 0.983 |
| 3:175755352:T:C | L708P | 0.979 |
| 3:175755356:T:A | N709K | 0.979 |
| 3:175755356:T:G | N709K | 0.979 |
| 3:175755265:T:C | L679P | 0.978 |
| 3:175256502:A:T | K304I | 0.977 |
| 3:175466982:G:C | R444P | 0.976 |
| 3:175463467:G:A | G434E | 0.972 |
| 3:175466999:A:C | S450R | 0.972 |
| 3:175467001:C:A | S450R | 0.972 |
| 3:175467001:C:G | S450R | 0.972 |
| 3:175256503:A:C | K304N | 0.971 |
| 3:175256503:A:T | K304N | 0.971 |
| 3:175324199:T:C | F322L | 0.968 |
| 3:175324201:T:A | F322L | 0.968 |
| 3:175324201:T:G | F322L | 0.968 |
| 3:175467176:T:A | W509R | 0.967 |
| 3:175467176:T:C | W509R | 0.967 |
| 3:175755355:A:T | N709I | 0.967 |
| 3:175097035:T:C | F97L | 0.966 |
| 3:175097037:C:A | F97L | 0.966 |
| 3:175097037:C:G | F97L | 0.966 |
| 3:175256499:T:C | L303P | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000000179 (3:175402745 C>G,T), RS1000000785 (3:175470378 A>G), RS1000001543 (3:175218883 G>A), RS1000002864 (3:175627751 A>G,T), RS1000004025 (3:175239786 G>A,T), RS1000007970 (3:175787235 TC>T), RS1000016058 (3:174786400 G>A), RS1000018631 (3:174844152 C>T), RS1000030402 (3:175011618 C>G,T), RS1000032223 (3:174734987 C>G,T), RS1000032672 (3:175432948 T>C), RS1000033329 (3:175220228 G>A), RS1000035233 (3:174460142 A>C), RS1000035695 (3:175312914 G>A), RS1000035935 (3:175470645 G>A)
Disease associations
OMIM: gene MIM:608806 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): intellectual disability (MONDO:0001071)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000314_2 | Kawasaki disease | 1.000000e-06 |
| GCST000996_23 | Systemic lupus erythematosus | 8.000000e-06 |
| GCST001822_5 | Metabolite levels (MHPG) | 1.000000e-06 |
| GCST001885_8 | Height | 8.000000e-06 |
| GCST002053_4 | Sleep duration | 3.000000e-06 |
| GCST002886_2 | Prostate cancer aggressiveness | 4.000000e-08 |
| GCST003126_1 | Influenza A (H1N1) severity | 6.000000e-07 |
| GCST003130_1 | Autism spectrum disorder | 4.000000e-06 |
| GCST003771_10 | Loneliness | 4.000000e-06 |
| GCST004370_2 | Deep ovarian and/or rectovaginal disease with dense adhesions | 1.000000e-07 |
| GCST005439_3 | Response to alcohol consumption (flushing response) | 4.000000e-06 |
| GCST006087_20 | Familial lung adenocarcinoma | 3.000000e-06 |
| GCST007326_52 | Number of sexual partners | 2.000000e-09 |
| GCST007393_2 | Mitochondrial DNA copy number | 2.000000e-08 |
| GCST007473_13 | Rapid automatized naming of pictures | 2.000000e-06 |
| GCST007673_3 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 3.000000e-07 |
| GCST009550_2 | Priapism in sickle cell disease | 3.000000e-08 |
| GCST010172_2 | Idiopathic downbeat nystagmus | 9.000000e-06 |
| GCST010923_12 | Beta blocker survival benefit in heart failure with reduced ejection fraction (time to all cause mortality x beta blocker interaction) | 9.000000e-06 |
| GCST011742_45 | Triglyceride levels in HIV infection | 3.000000e-06 |
| GCST012490_93 | Femur bone mineral density x serum urate levels interaction | 4.000000e-10 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005133 | MHPG measurement |
| EFO:0006999 | cancer aggressiveness measurement |
| EFO:0007000 | Gleason score measurement |
| EFO:0007743 | influenza A severity measurement |
| EFO:0007865 | loneliness measurement |
| EFO:0006953 | family history of lung cancer |
| EFO:0006312 | mitochondrial DNA measurement |
| EFO:0005301 | reading and spelling ability |
| EFO:0009603 | stroke outcome severity measurement |
| EFO:0004352 | mortality |
| EFO:0007766 | response to beta blocker |
| EFO:0004530 | triglyceride measurement |
| EFO:0004531 | urate measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Aflatoxin B1 | decreases expression, decreases methylation | 3 |
| lasiocarpine | decreases expression | 2 |
| methyleugenol | decreases expression | 2 |
| N-Nitrosopyrrolidine | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases methylation, affects expression | 2 |
| Valproic Acid | increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| rofecoxib | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Palmitic Acid | increases expression | 1 |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): endometriosis, Kawasaki disease