ITFG2
gene geneOn this page
Also known as MDS028KICS3
Summary
ITFG2 (integrin alpha FG-GAP repeat containing 2, HGNC:30879) is a protein-coding gene on chromosome 12p13.33, encoding KICSTOR complex protein ITFG2 (Q969R8). As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway.
Involved in cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in Golgi apparatus and lysosomal membrane. Part of KICSTOR complex.
Source: NCBI Gene 55846 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
- Clinical variants (ClinVar): 161 total — 1 likely-pathogenic
- MANE Select transcript:
NM_018463
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30879 |
| Approved symbol | ITFG2 |
| Name | integrin alpha FG-GAP repeat containing 2 |
| Location | 12p13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MDS028, KICS3 |
| Ensembl gene | ENSG00000111203 |
| Ensembl biotype | protein_coding |
| OMIM | 617421 |
| Entrez | 55846 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 11 protein_coding, 7 protein_coding_CDS_not_defined, 6 nonsense_mediated_decay, 3 retained_intron
ENST00000228799, ENST00000534935, ENST00000535564, ENST00000537183, ENST00000537710, ENST00000537851, ENST00000538822, ENST00000540300, ENST00000540662, ENST00000540929, ENST00000541659, ENST00000543029, ENST00000545509, ENST00000552005, ENST00000643039, ENST00000644123, ENST00000644517, ENST00000645513, ENST00000905243, ENST00000905244, ENST00000905245, ENST00000905246, ENST00000905247, ENST00000917240, ENST00000917241, ENST00000917242, ENST00000944946
RefSeq mRNA: 1 — MANE Select: NM_018463
NM_018463
CCDS: CCDS8513
Canonical transcript exons
ENST00000228799 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000713129 | 2818106 | 2818277 |
| ENSE00001882716 | 2824090 | 2825076 |
| ENSE00003462568 | 2821543 | 2821596 |
| ENSE00003507139 | 2820086 | 2820225 |
| ENSE00003518718 | 2822794 | 2822911 |
| ENSE00003525213 | 2821262 | 2821359 |
| ENSE00003530883 | 2817909 | 2817950 |
| ENSE00003536425 | 2820724 | 2820872 |
| ENSE00003629225 | 2817223 | 2817318 |
| ENSE00003635081 | 2821692 | 2821792 |
| ENSE00003663351 | 2823770 | 2823943 |
| ENSE00003844924 | 2812668 | 2812856 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 95.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1812 / max 129.1825, expressed in 1799 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123451 | 15.1812 | 1799 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 95.38 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.80 | gold quality |
| granulocyte | CL:0000094 | 94.57 | gold quality |
| body of pancreas | UBERON:0001150 | 94.37 | gold quality |
| sural nerve | UBERON:0015488 | 94.24 | gold quality |
| thyroid gland | UBERON:0002046 | 94.08 | gold quality |
| right uterine tube | UBERON:0001302 | 93.81 | gold quality |
| left ovary | UBERON:0002119 | 92.49 | gold quality |
| right ovary | UBERON:0002118 | 92.42 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.30 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.03 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.96 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.90 | gold quality |
| spleen | UBERON:0002106 | 91.89 | gold quality |
| endocervix | UBERON:0000458 | 91.86 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.86 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.82 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.75 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.75 | gold quality |
| body of stomach | UBERON:0001161 | 91.46 | gold quality |
| body of uterus | UBERON:0009853 | 91.42 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.28 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.22 | gold quality |
| pituitary gland | UBERON:0000007 | 91.19 | gold quality |
| tibial nerve | UBERON:0001323 | 91.19 | gold quality |
| ventricular zone | UBERON:0003053 | 91.09 | gold quality |
| apex of heart | UBERON:0002098 | 91.07 | gold quality |
| transverse colon | UBERON:0001157 | 91.05 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 90.96 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.97 |
| E-MTAB-6379 | no | 201.62 |
| E-CURD-112 | no | 2.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting ITFG2, 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-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-26A-1-3P | 99.64 | 66.81 | 788 |
| HSA-MIR-26A-2-3P | 99.64 | 66.82 | 786 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-5571-5P | 99.49 | 66.99 | 1764 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-4725-5P | 98.67 | 65.42 | 628 |
| HSA-MIR-504-5P | 98.67 | 65.40 | 631 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-4720-3P | 98.50 | 68.88 | 988 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
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 | itfg2 | ENSDARG00000002174 |
| mus_musculus | Itfg2 | ENSMUSG00000001518 |
| rattus_norvegicus | Itfg2 | ENSRNOG00000006264 |
Protein
Protein identifiers
KICSTOR complex protein ITFG2 — Q969R8 (reviewed: Q969R8)
Alternative names: Integrin-alpha FG-GAP repeat-containing protein 2
All UniProt accessions (7): A0A0S2Z5P1, A0A2R8Y7E0, Q969R8, F5H1D0, H0YFM4, H0YG72, H0YGR0
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.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969R8-1 | 1 | yes |
| Q969R8-2 | 2 |
RefSeq proteins (1): NP_060933* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028994 | Integrin_alpha_N | Homologous_superfamily |
| IPR031793 | KICSTOR_ITFG2 | Family |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF15907
UniProt features (8 total): repeat 2, modified residue 2, splice variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9VAN | ELECTRON MICROSCOPY | 2.9 |
| 9V80 | ELECTRON MICROSCOPY | 2.95 |
| 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-Q969R8-F1 | 87.05 | 0.70 |
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 (2): 104, 220
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: 164 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_B_CELL_ACTIVATION, GOCC_VACUOLAR_MEMBRANE, CREBP1_Q2, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, CREB_Q4, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, E4F1_Q6, CREB_Q2_01, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_IMMUNE_EFFECTOR_PROCESS, GOBP_TOR_SIGNALING, GOBP_MATURE_B_CELL_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_GLUCOSE_STARVATION
GO Biological Process (6): germinal center B cell differentiation (GO:0002314), regulation of TOR signaling (GO:0032006), cellular response to amino acid starvation (GO:0034198), cellular response to glucose starvation (GO:0042149), negative regulation of TORC1 signaling (GO:1904262), integrin-mediated signaling pathway (GO:0007229)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), Golgi apparatus (GO:0005794), cytosol (GO:0005829), KICSTOR complex (GO:0140007), lysosome (GO:0005764), 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 anatomical structure | 3 |
| cellular response to starvation | 2 |
| cytoplasm | 2 |
| mature B cell differentiation involved in immune response | 1 |
| TOR signaling | 1 |
| regulation of intracellular signal transduction | 1 |
| response to amino acid starvation | 1 |
| negative regulation of TOR signaling | 1 |
| TORC1 signaling | 1 |
| regulation of TORC1 signaling | 1 |
| cell surface receptor signaling pathway | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| lytic vacuole | 1 |
Protein interactions and networks
STRING
1108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ITFG2 | KICS2 | Q96MD2 | 997 |
| ITFG2 | KPTN | Q9Y664 | 997 |
| ITFG2 | SZT2 | Q5T011 | 996 |
| ITFG2 | SAMTOR | Q1RMZ1 | 892 |
| ITFG2 | DEPDC5 | O75140 | 818 |
| ITFG2 | NPRL2 | Q8WTW4 | 709 |
| ITFG2 | NPRL3 | Q12980 | 686 |
| ITFG2 | WDR24 | Q96S15 | 684 |
| ITFG2 | WDR59 | Q6PJI9 | 672 |
| ITFG2 | MIOS | Q9NXC5 | 649 |
| ITFG2 | SEH1L | Q96EE3 | 634 |
| ITFG2 | TBC1D7 | Q9P0N9 | 588 |
| ITFG2 | CASTOR1 | Q8WTX7 | 547 |
| ITFG2 | SLC38A9 | Q8NBW4 | 543 |
| ITFG2 | SEC13 | P55735 | 519 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VWCE | HSPA5 | psi-mi:“MI:0914”(association) | 0.640 |
| OTUD3 | ITFG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ITFG2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| BTN2A1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| INPP5A | RCCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| VWCE | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| KPTN | EIF4G3 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB9 | USP12 | 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 |
| PROSER2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SAMTOR | MIF4GD | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF2 | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| DEPDC5 | SZT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAP2A | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ADAM19 | TSC22D2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF2 | COL2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| DEPDC5 | GLA | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD3 | MLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| CARHSP1 | ITFG2 | psi-mi:“MI:0914”(association) | 0.350 |
| KPTN | ALDH1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD3 | MIB1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (58): ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), SZT2 (Affinity Capture-MS), SH3PXD2B (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7
Diamond homologs: Q27969, Q5RBH8, Q91WI7, Q969R8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ITFG2 | “form complex” | “KICSTOR complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
161 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 137 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3383984 | NM_018463.4(ITFG2):c.848-1G>A | Likely pathogenic |
SpliceAI
3392 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:2817215:A:AG | acceptor_gain | 1.0000 |
| 12:2817215:ATTT:A | acceptor_gain | 1.0000 |
| 12:2817216:T:G | acceptor_gain | 1.0000 |
| 12:2817218:T:A | acceptor_gain | 1.0000 |
| 12:2817218:TGAA:T | acceptor_loss | 1.0000 |
| 12:2817220:AAGT:A | acceptor_loss | 1.0000 |
| 12:2817221:A:AG | acceptor_gain | 1.0000 |
| 12:2817221:A:AT | acceptor_loss | 1.0000 |
| 12:2817222:G:GG | acceptor_gain | 1.0000 |
| 12:2817222:GTT:G | acceptor_gain | 1.0000 |
| 12:2817222:GTTA:G | acceptor_gain | 1.0000 |
| 12:2817222:GTTAA:G | acceptor_gain | 1.0000 |
| 12:2817803:G:GG | donor_gain | 1.0000 |
| 12:2818155:T:TA | acceptor_gain | 1.0000 |
| 12:2818307:GGAGA:G | donor_gain | 1.0000 |
| 12:2818308:GAGAG:G | donor_gain | 1.0000 |
| 12:2818309:A:T | donor_gain | 1.0000 |
| 12:2818310:GA:G | donor_gain | 1.0000 |
| 12:2818312:G:GG | donor_gain | 1.0000 |
| 12:2818315:GGA:G | donor_gain | 1.0000 |
| 12:2818316:GAG:G | donor_gain | 1.0000 |
| 12:2818318:G:GG | donor_gain | 1.0000 |
| 12:2820082:ACAG:A | acceptor_loss | 1.0000 |
| 12:2820083:CAGA:C | acceptor_loss | 1.0000 |
| 12:2820084:A:AG | acceptor_gain | 1.0000 |
| 12:2820084:AGAT:A | acceptor_gain | 1.0000 |
| 12:2820085:G:GT | acceptor_gain | 1.0000 |
| 12:2820085:GATG:G | acceptor_gain | 1.0000 |
| 12:2820222:TCAGG:T | donor_loss | 1.0000 |
| 12:2820223:CAGGT:C | donor_loss | 1.0000 |
AlphaMissense
2917 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:2821596:G:T | G283W | 1.000 |
| 12:2821692:G:A | G283E | 1.000 |
| 12:2821692:G:T | G283V | 1.000 |
| 12:2822827:T:A | W328R | 1.000 |
| 12:2822827:T:C | W328R | 1.000 |
| 12:2820125:A:T | D149V | 0.999 |
| 12:2820128:G:C | R150P | 0.999 |
| 12:2820208:T:A | W177R | 0.999 |
| 12:2820208:T:C | W177R | 0.999 |
| 12:2821579:C:A | A277D | 0.999 |
| 12:2821596:G:A | G283R | 0.999 |
| 12:2821596:G:C | G283R | 0.999 |
| 12:2822829:G:C | W328C | 0.999 |
| 12:2822829:G:T | W328C | 0.999 |
| 12:2822834:G:A | G330E | 0.999 |
| 12:2822834:G:T | G330V | 0.999 |
| 12:2822876:T:C | F344S | 0.999 |
| 12:2817233:T:C | L36P | 0.998 |
| 12:2820124:G:C | D149H | 0.998 |
| 12:2821586:C:G | C279W | 0.998 |
| 12:2821591:T:C | L281P | 0.998 |
| 12:2821593:G:C | D282H | 0.998 |
| 12:2821594:A:T | D282V | 0.998 |
| 12:2821692:G:C | G283A | 0.998 |
| 12:2821698:T:C | L285P | 0.998 |
| 12:2821739:T:A | W299R | 0.998 |
| 12:2821739:T:C | W299R | 0.998 |
| 12:2822819:C:A | A325E | 0.998 |
| 12:2822830:G:C | D329H | 0.998 |
| 12:2822840:C:A | T332K | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000043980 (12:2829941 G>A,T), RS1000069714 (12:2851019 T>A), RS1000135508 (12:2819006 C>T), RS1000262938 (12:2845717 A>T), RS1000318680 (12:2850913 T>C), RS1000330666 (12:2830958 C>A,G,T), RS1000641812 (12:2819953 G>A), RS1000642943 (12:2828802 A>G), RS1000701165 (12:2823277 C>T), RS1000708814 (12:2840866 G>A), RS1000730418 (12:2839693 G>A,T), RS1000739096 (12:2817530 G>A), RS1000746033 (12:2854224 C>T), RS1000748645 (12:2823521 G>C), RS1000755643 (12:2814241 G>C)
Disease associations
OMIM: gene MIM:617421 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal recessive |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, decreases expression | 4 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| beta-N-methylamino-L-alanine | increases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous 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 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Cidofovir | affects expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Ifosfamide | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Oxygen | increases 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): neurodevelopmental disorder