KICS2
gene geneOn this page
Also known as FLJ32549
Summary
KICS2 (KICSTOR subunit 2, HGNC:26517) is a protein-coding gene on chromosome 12q14.2, encoding KICSTOR subunit 2 (Q96MD2). As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway.
Involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in intercellular bridge and lysosome. Part of KICSTOR complex.
Source: NCBI Gene 144577 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 16 total — 5 pathogenic
- Phenotypes (HPO): 61
- MANE Select transcript:
NM_152440
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26517 |
| Approved symbol | KICS2 |
| Name | KICSTOR subunit 2 |
| Location | 12q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32549 |
| Ensembl gene | ENSG00000174206 |
| Ensembl biotype | protein_coding |
| OMIM | 617420 |
| Entrez | 144577 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000311915, ENST00000398055, ENST00000540673, ENST00000544871, ENST00000615991, ENST00000907624
RefSeq mRNA: 3 — MANE Select: NM_152440
NM_001300940, NM_001300941, NM_152440
CCDS: CCDS41803, CCDS73490, CCDS76574
Canonical transcript exons
ENST00000398055 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001193890 | 64215678 | 64215963 |
| ENSE00001531346 | 64191080 | 64194658 |
| ENSE00001560746 | 64222003 | 64222296 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 84.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1576 / max 56.8881, expressed in 1658 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131849 | 5.9754 | 1645 |
| 131850 | 0.1822 | 80 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 84.00 | gold quality |
| oocyte | CL:0000023 | 83.95 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 81.53 | gold quality |
| skin of hip | UBERON:0001554 | 81.34 | gold quality |
| upper leg skin | UBERON:0004262 | 81.33 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 77.50 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 77.20 | gold quality |
| pancreas | UBERON:0001264 | 77.07 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 76.75 | gold quality |
| parietal pleura | UBERON:0002400 | 76.70 | gold quality |
| corpus epididymis | UBERON:0004359 | 76.59 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.48 | gold quality |
| oral cavity | UBERON:0000167 | 76.35 | gold quality |
| right lobe of liver | UBERON:0001114 | 76.22 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 76.11 | gold quality |
| body of pancreas | UBERON:0001150 | 76.07 | gold quality |
| right adrenal gland | UBERON:0001233 | 76.05 | gold quality |
| muscle of leg | UBERON:0001383 | 76.01 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 75.71 | gold quality |
| bone marrow cell | CL:0002092 | 75.63 | gold quality |
| liver | UBERON:0002107 | 75.52 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 75.43 | gold quality |
| caput epididymis | UBERON:0004358 | 75.35 | gold quality |
| primary visual cortex | UBERON:0002436 | 75.33 | gold quality |
| adrenal gland | UBERON:0002369 | 75.22 | gold quality |
| zone of skin | UBERON:0000014 | 75.13 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 37.69 |
| E-ANND-3 | no | 3.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
72 targeting KICS2, 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-340-5P | 100.00 | 72.50 | 4437 |
| 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
Literature-anchored findings (GeneRIF, showing 1)
- identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells (PMID:28199306)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kics2 | ENSDARG00000045790 |
| mus_musculus | Kics2 | ENSMUSG00000053684 |
| rattus_norvegicus | Kics2 | ENSRNOG00000028782 |
Protein
Protein identifiers
KICSTOR subunit 2 — Q96MD2 (reviewed: Q96MD2)
Alternative names: KICSTOR complex protein C12orf66
All UniProt accessions (3): Q96MD2, F5H2Q3, J3KNH0
UniProt curated annotations — full annotation on UniProt →
Function. As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.
Subunit / interactions. Part of the KICSTOR complex composed of KPTN, ITFG2, KICS2 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and may mediate the direct interaction with the GATOR complex via GATOR1. The KICSTOR complex interacts directly with the GATOR1 complex and most probably indirectly with the GATOR2 complex in an amino acid-independent manner.
Subcellular location. Lysosome membrane.
Disease relevance. Intellectual developmental disorder, autosomal recessive 83 (MRT83) [MIM:621100] An autosomal recessive disorder characterized by developmental delay, mild to moderate intellectual disability, and poor or absent speech. Additional variable features include seizures, hearing impairment, hypotonia, and non-specific facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the KICS2 family.
RefSeq proteins (3): NP_001287869, NP_001287870, NP_689653* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018544 | KICS_2 | Family |
| IPR038060 | C12orf66-like_central_sf | Homologous_superfamily |
Pfam: PF09404
UniProt features (6 total): sequence variant 5, chain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9VAN | ELECTRON MICROSCOPY | 2.9 |
| 9V86 | ELECTRON MICROSCOPY | 3.04 |
| 9V9N | ELECTRON MICROSCOPY | 3.08 |
| 9V6E | ELECTRON MICROSCOPY | 3.19 |
| 9O5A | ELECTRON MICROSCOPY | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MD2-F1 | 89.31 | 0.76 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9639288 | Amino acids regulate mTORC1 |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9711097 | Cellular response to starvation |
MSigDB gene sets: 267 (showing top):
GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_PROTEIN_LOCALIZATION_TO_LYSOSOME, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, CREB_Q4, GOBP_PROTEIN_LOCALIZATION_TO_VACUOLE, MYCMAX_01, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, NIKOLSKY_BREAST_CANCER_12Q13_Q21_AMPLICON, HIF1_Q3, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_TOR_SIGNALING
GO Biological Process (4): cellular response to amino acid starvation (GO:0034198), cellular response to glucose starvation (GO:0042149), protein localization to lysosome (GO:0061462), negative regulation of TORC1 signaling (GO:1904262)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): lysosome (GO:0005764), lysosomal membrane (GO:0005765), intercellular bridge (GO:0045171), KICSTOR complex (GO:0140007), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cellular response to starvation | 1 |
| Cellular responses to stimuli | 1 |
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to starvation | 2 |
| cellular anatomical structure | 2 |
| response to amino acid starvation | 1 |
| protein localization to vacuole | 1 |
| negative regulation of TOR signaling | 1 |
| TORC1 signaling | 1 |
| regulation of TORC1 signaling | 1 |
| binding | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
552 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KICS2 | ITFG2 | Q969R8 | 997 |
| KICS2 | SZT2 | Q5T011 | 996 |
| KICS2 | KPTN | Q9Y664 | 996 |
| KICS2 | SAMTOR | Q1RMZ1 | 891 |
| KICS2 | DEPDC5 | O75140 | 780 |
| KICS2 | NPRL3 | Q12980 | 722 |
| KICS2 | NPRL2 | Q8WTW4 | 692 |
| KICS2 | WDR59 | Q6PJI9 | 681 |
| KICS2 | WDR24 | Q96S15 | 673 |
| KICS2 | MIOS | Q9NXC5 | 649 |
| KICS2 | SEH1L | Q96EE3 | 639 |
| KICS2 | SLC38A9 | Q8NBW4 | 571 |
| KICS2 | CASTOR1 | Q8WTX7 | 571 |
| KICS2 | TBC1D7 | Q9P0N9 | 546 |
| KICS2 | SEC13 | P55735 | 526 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ITFG2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| KPTN | EIF4G3 | psi-mi:“MI:0914”(association) | 0.530 |
| SAMTOR | PER1 | psi-mi:“MI:0914”(association) | 0.530 |
| ITFG2 | DEPDC5 | psi-mi:“MI:0914”(association) | 0.530 |
| KICS2 | PPIB | psi-mi:“MI:0915”(physical association) | 0.400 |
| OTUD3 | KICS2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SAMTOR | MIF4GD | psi-mi:“MI:0914”(association) | 0.350 |
| DEPDC5 | SZT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DEPDC5 | GLA | psi-mi:“MI:0914”(association) | 0.350 |
| KPTN | ALDH1A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (23): C12orf66 (Affinity Capture-MS), C12orf66 (Synthetic Growth Defect), C12orf66 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), C12orf66 (Affinity Capture-Western), C12orf66 (Affinity Capture-Western), C12orf66 (Affinity Capture-Western), C12orf66 (Affinity Capture-Western), C12orf66 (Affinity Capture-Western), C12orf66 (Affinity Capture-Western), C12orf66 (Affinity Capture-Western)
ESM2 similar proteins: A4IFQ0, A6QL63, A6QR06, A7MAZ4, O75486, P54198, Q08BT5, Q0VA03, Q13769, Q14161, Q15022, Q1LVW0, Q28J24, Q3B7L5, Q5BJQ7, Q5RDB9, Q5ZJA9, Q5ZMS1, Q61666, Q62784, Q66H91, Q68FF6, Q68FX7, Q6DEW4, Q6GMF2, Q6GQW0, Q6ZPY2, Q76JQ2, Q7Z7C8, Q7ZYA2, Q80U70, Q8BIK4, Q8BKT7, Q8C0Q9, Q8NFG4, Q8QZS3, Q96BN2, Q96MD2, Q96PE3, Q99LM9
Diamond homologs: Q1L8F9, Q6IR80, Q6P1I3, Q96MD2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| C12orf66 | “form complex” | “KICSTOR complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 13 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Amino acids regulate mTORC1 | 5 | 91.1× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of TORC1 signaling | 5 | 124.6× | 2e-08 |
| cellular response to amino acid starvation | 5 | 122.3× | 2e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3747841 | NM_152440.5(KICS2):c.7G>T (p.Glu3Ter) | Pathogenic |
| 3747842 | NM_152440.5(KICS2):c.236-2del | Pathogenic |
| 3747843 | NM_152440.5(KICS2):c.780del (p.Lys260fs) | Pathogenic |
| 3747844 | NM_152440.5(KICS2):c.888C>A (p.Asp296Glu) | Pathogenic |
| 3747845 | NM_152440.5(KICS2):c.1178A>G (p.Tyr393Cys) | Pathogenic |
SpliceAI
582 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:64215673:CTGA:C | donor_loss | 1.0000 |
| 12:64215674:TGA:T | donor_loss | 1.0000 |
| 12:64215675:GAC:G | donor_loss | 1.0000 |
| 12:64215676:A:AT | donor_loss | 1.0000 |
| 12:64215677:C:CT | donor_loss | 1.0000 |
| 12:64221966:T:TA | donor_gain | 1.0000 |
| 12:64222006:G:C | donor_gain | 1.0000 |
| 12:64194656:AATC:A | acceptor_loss | 0.9900 |
| 12:64194658:TCTA:T | acceptor_loss | 0.9900 |
| 12:64194659:C:CC | acceptor_gain | 0.9900 |
| 12:64194660:T:C | acceptor_loss | 0.9900 |
| 12:64215676:A:AC | donor_gain | 0.9900 |
| 12:64215677:C:CC | donor_gain | 0.9900 |
| 12:64215963:CCTGG:C | acceptor_gain | 0.9900 |
| 12:64221957:C:CA | donor_gain | 0.9900 |
| 12:64221999:GTAC:G | donor_loss | 0.9900 |
| 12:64222000:TA:T | donor_loss | 0.9900 |
| 12:64222001:ACCT:A | donor_loss | 0.9900 |
| 12:64222002:C:G | donor_loss | 0.9900 |
| 12:64222005:A:AC | donor_gain | 0.9900 |
| 12:64222139:AG:A | donor_gain | 0.9900 |
| 12:64215961:CCC:C | acceptor_gain | 0.9800 |
| 12:64215962:CCC:C | acceptor_gain | 0.9800 |
| 12:64215964:C:CC | acceptor_gain | 0.9800 |
| 12:64215967:G:C | acceptor_gain | 0.9800 |
| 12:64194656:AAT:A | acceptor_gain | 0.9700 |
| 12:64194657:AT:A | acceptor_gain | 0.9700 |
| 12:64215960:CCCC:C | acceptor_gain | 0.9700 |
| 12:64215961:CCCC:C | acceptor_gain | 0.9700 |
| 12:64215962:CC:C | acceptor_gain | 0.9700 |
AlphaMissense
2952 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:64193996:A:G | L395P | 0.999 |
| 12:64194003:A:C | Y393D | 0.999 |
| 12:64194361:A:C | F273L | 0.999 |
| 12:64194361:A:T | F273L | 0.999 |
| 12:64194363:A:G | F273L | 0.999 |
| 12:64194411:A:G | W257R | 0.999 |
| 12:64194411:A:T | W257R | 0.999 |
| 12:64194542:A:G | L213P | 0.999 |
| 12:64215942:C:A | R86M | 0.999 |
| 12:64194089:A:T | V364D | 0.998 |
| 12:64194134:A:T | V349E | 0.998 |
| 12:64194192:A:C | Y330D | 0.998 |
| 12:64194192:A:G | Y330H | 0.998 |
| 12:64194240:A:G | S314P | 0.998 |
| 12:64194370:G:C | S270R | 0.998 |
| 12:64194370:G:T | S270R | 0.998 |
| 12:64194372:T:G | S270R | 0.998 |
| 12:64194512:A:G | L223P | 0.998 |
| 12:64194561:A:G | W207R | 0.998 |
| 12:64194561:A:T | W207R | 0.998 |
| 12:64194590:A:G | L197P | 0.998 |
| 12:64215792:C:G | R136P | 0.998 |
| 12:64215813:A:G | L129P | 0.998 |
| 12:64215897:A:G | L101P | 0.998 |
| 12:64215941:C:A | R86S | 0.998 |
| 12:64215941:C:G | R86S | 0.998 |
| 12:64215942:C:G | R86T | 0.998 |
| 12:64222036:A:C | Y68D | 0.998 |
| 12:64222056:A:G | L61P | 0.998 |
| 12:64222136:C:A | K34N | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000437554 (12:64220530 A>G), RS1000553218 (12:64187476 GA>G), RS1000623238 (12:64186139 C>A), RS1000775126 (12:64221536 A>G), RS1000850613 (12:64208041 A>T), RS1000908515 (12:64222520 C>G,T), RS1000936281 (12:64215243 T>C), RS1000976294 (12:64215551 G>A), RS1001047352 (12:64201713 T>G), RS1001078662 (12:64209197 T>C), RS1001207378 (12:64221847 A>C,G), RS1001281034 (12:64208373 C>A), RS1001434454 (12:64219262 G>A), RS1001574973 (12:64219578 T>C), RS1001643765 (12:64220698 A>G)
Disease associations
OMIM: gene MIM:617420 | disease phenotypes: MIM:621100
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Moderate | Autosomal recessive |
Mondo (2): intellectual developmental disorder, autosomal recessive 83 (MONDO:0976231), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
61 total (30 of 61 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000256 | Macrocephaly |
| HP:0000316 | Hypertelorism |
| HP:0000322 | Short philtrum |
| HP:0000365 | Hearing impairment |
| HP:0000405 | Conductive hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000445 | Wide nose |
| HP:0000463 | Anteverted nares |
| HP:0000540 | Hypermetropia |
| HP:0000664 | Synophrys |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
| HP:0000733 | Motor stereotypy |
| HP:0000749 | Paroxysmal bursts of laughter |
| HP:0000750 | Delayed speech and language development |
| HP:0001159 | Syndactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Mild intellectual disability |
| HP:0001276 | Hypertonia |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001344 | Absent speech |
| HP:0001518 | Small for gestational age |
| HP:0001650 | Aortic valve stenosis |
| HP:0002002 | Deep philtrum |
| HP:0002013 | Vomiting |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002343_8 | Response to cytidine analogues (gemcitabine) | 8.000000e-06 |
| GCST006979_1064 | Heel bone mineral density | 9.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
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
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| potassium chromate(VI) | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 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
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): intellectual developmental disorder, autosomal recessive 83