NTNG1
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Also known as KIAA0976Lmnt1NetG1NetrinG1
Summary
NTNG1 (netrin G1, HGNC:23319) is a protein-coding gene on chromosome 1p13.3, encoding Netrin-G1 (Q9Y2I2). Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels.
This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 22854 — RefSeq curated summary.
At a glance
- Gene–disease (curated): atypical Rett syndrome (Supportive, GenCC) — +2 more curated relationships
- Clinical variants (ClinVar): 85 total
- MANE Select transcript:
NM_001113226
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23319 |
| Approved symbol | NTNG1 |
| Name | netrin G1 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0976, Lmnt1, NetG1, NetrinG1 |
| Ensembl gene | ENSG00000162631 |
| Ensembl biotype | protein_coding |
| OMIM | 608818 |
| Entrez | 22854 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000294649, ENST00000370065, ENST00000370066, ENST00000370067, ENST00000370068, ENST00000370073, ENST00000370074, ENST00000370076, ENST00000462149, ENST00000477948, ENST00000901085, ENST00000945945
RefSeq mRNA: 11 — MANE Select: NM_001113226
NM_001113226, NM_001113228, NM_001312688, NM_001330665, NM_001372166, NM_001372167, NM_001372168, NM_001372169, NM_001372170, NM_001372171, NM_014917
CCDS: CCDS30785, CCDS44179, CCDS44180, CCDS81354
Canonical transcript exons
ENST00000370068 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001451652 | 107141039 | 107141140 |
| ENSE00001451655 | 107480611 | 107484923 |
| ENSE00001451660 | 107436665 | 107436799 |
| ENSE00001451661 | 107430750 | 107430917 |
| ENSE00001451666 | 107407682 | 107407708 |
| ENSE00003471810 | 107324282 | 107324922 |
| ENSE00003594347 | 107148069 | 107148839 |
| ENSE00003599329 | 107395154 | 107395326 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 96.63.
FANTOM5 (CAGE): breadth broad, TPM avg 5.0538 / max 373.1940, expressed in 797 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4316 | 2.9347 | 663 |
| 4317 | 0.9556 | 327 |
| 4324 | 0.7606 | 392 |
| 4322 | 0.6288 | 248 |
| 4318 | 0.2932 | 118 |
| 201600 | 0.2545 | 145 |
| 4320 | 0.2520 | 61 |
| 201599 | 0.2406 | 105 |
| 4321 | 0.1779 | 99 |
| 4319 | 0.1639 | 47 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 96.63 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.10 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.56 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.27 | gold quality |
| primary visual cortex | UBERON:0002436 | 86.51 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.62 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 82.43 | gold quality |
| occipital lobe | UBERON:0002021 | 81.46 | gold quality |
| entorhinal cortex | UBERON:0002728 | 80.79 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 80.56 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 78.02 | gold quality |
| ventricular zone | UBERON:0003053 | 77.86 | gold quality |
| prefrontal cortex | UBERON:0000451 | 77.70 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.43 | gold quality |
| parietal pleura | UBERON:0002400 | 77.27 | gold quality |
| right frontal lobe | UBERON:0002810 | 76.98 | gold quality |
| frontal cortex | UBERON:0001870 | 76.84 | gold quality |
| hypothalamus | UBERON:0001898 | 76.71 | gold quality |
| neocortex | UBERON:0001950 | 76.55 | gold quality |
| postcentral gyrus | UBERON:0002581 | 76.32 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.96 | gold quality |
| endothelial cell | CL:0000115 | 75.80 | silver quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 75.74 | gold quality |
| cerebral cortex | UBERON:0000956 | 75.39 | gold quality |
| cingulate cortex | UBERON:0003027 | 75.32 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 75.08 | gold quality |
| parietal lobe | UBERON:0001872 | 74.84 | gold quality |
| temporal lobe | UBERON:0001871 | 74.35 | gold quality |
| sural nerve | UBERON:0015488 | 73.71 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 56.43 |
| E-CURD-119 | yes | 33.78 |
| E-ANND-3 | yes | 6.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
197 targeting NTNG1, 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-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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
Literature-anchored findings (GeneRIF, showing 17)
- Netrin-G1 is an important part of the NGL-1 receptor and functions to promote the outgrowth of dorsal thalamic axons. (PMID:14595443)
- findings suggest that netrin G1 or a nearby gene may contribute to overall genetic risk for schizophrenia (PMID:15508520)
- Specific haplotypes encompassing alternatively spliced exons of NTNG1 were associated with schizophrenia, and concordantly, messenger ribonucleic acid isoform expression was significantly different between schizophrenic and control brains. (PMID:15705354)
- Sequence analysis of the cloned junction fragment indicated that on chromosome 1 the predominantly brain-expressed Netrin G1 (NTNG1) gene is disrupted, whereas on chromosome 7 there was no indication for a truncated gene (PMID:15870826)
- NTNG1 may use alternative splicing to diversify its function in a developmentally and tissue-specific manner. (PMID:15901489)
- Mutations in the NTNG1 gene appear to be a rare cause of Rett syndrome but NTNG1 function demands further investigation in relation to the central nervous system pathophysiology of the disorder. (PMID:16502428)
- The data of this stusty implicate NTNG1 in the pathophysiology of schizophrenia and bipolar disorder, but do not support the hypothesis that altered mRNA expression is the mechanism by which genetic variation of NTNG1 may confer disease susceptibility. (PMID:17507910)
- Netrin G1 is not involved in atypical Rett syndrome or in unexplained encephalopathy with epilepsy, but in specific forms to be delineated better in the future. (PMID:17903671)
- Genotype and allele frequencies of single nucleotide polymorphisms on NTNG1 are significantly associated with schizophrenia. (PMID:22227940)
- Our finding nominates the minor G allele of the NTNG1 rs628117 single nucleotide polymorphism as a risk factor for ischemic stroke at least in Armenian population. (PMID:23769687)
- Interaction between the tripartite NGL-1, netrin-G1 and LAR adhesion complex promotes development of excitatory synapses. (PMID:23986473)
- examined the hypothesis that NTNG1 allelic variation contributes to the risk for schizophrenia (PMID:25325217)
- Significant genetic family-based associations were detected between NTNG1 polymorphisms and cocaine dependence. NTNG1 expression in BA10, BA46 and the cerebellum, however, were not significantly associated with any allele or haplotype of this gene. (PMID:28074533)
- A 117-base pair SARS-CoV-2 orf1b sequence matched a sequence in the human genome with 94.6% identity. The sequence was in chromosome 1p within an intronic region of the netrin G1 (NTNG1) gene, implicated in schizophrenia. (PMID:32503821)
- A Genetic Study of Cerebral Atherosclerosis Reveals Novel Associations with NTNG1 and CNOT3. (PMID:34073619)
- CircNTNG1 inhibits renal cell carcinoma progression via HOXA5-mediated epigenetic silencing of Slug. (PMID:36536414)
- Comprehensive analysis of the role of Netrin G1 (NTNG1) in hepatocellular carcinoma cells. (PMID:38101695)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ntng1a | ENSDARG00000014973 |
| danio_rerio | ntng1b | ENSDARG00000073713 |
| mus_musculus | Ntng1 | ENSMUSG00000059857 |
| rattus_norvegicus | Ntng1 | ENSRNOG00000031136 |
Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)
Protein
Protein identifiers
Netrin-G1 — Q9Y2I2 (reviewed: Q9Y2I2)
Alternative names: Laminet-1
All UniProt accessions (2): Q9Y2I2, X5DNW2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites.
Subunit / interactions. Interacts with NGL1.
Subcellular location. Cell membrane.
Tissue specificity. Highly expressed in the thalamus, with very low expression, if any, in other tissues.
Post-translational modifications. N-glycosylated.
Domain organisation. The laminin N-terminal domain mediates 1:1 binding to NGL ligand with sub-micromolar affinity. Three NGL-binding loops mediate discrimination for LRRC4C/NGL1 among other NGLs by binding specifically to its LRR repeats. This specificity drives the sorting of a mixed population of molecules into discrete cell surface subdomains.
Miscellaneous. Mostly expressed in adult brain. Hi expression in Expressed in brain and. Mostly expressed in kidney, also expressed in adult and fetal brain. Some expression in fetal brain.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2I2-3 | 3, 1A | yes |
| Q9Y2I2-2 | 2, 1F | |
| Q9Y2I2-1 | 1, 1C | |
| Q9Y2I2-4 | 4, 1D | |
| Q9Y2I2-5 | 5, 1E | |
| Q9Y2I2-6 | 6, 1G |
RefSeq proteins (11): NP_001106697, NP_001106699, NP_001299617, NP_001317594, NP_001359095, NP_001359096, NP_001359097, NP_001359098, NP_001359099, NP_001359100, NP_055732 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR002049 | LE_dom | Domain |
| IPR008211 | Laminin_N | Domain |
| IPR050440 | Laminin/Netrin_ECM | Family |
| IPR056863 | LMN_ATRN_NET-like_EGF | Domain |
Pfam: PF00053, PF00055, PF24973
UniProt features (79 total): strand 20, disulfide bond 19, splice variant 9, helix 9, glycosylation site 4, domain 4, sequence conflict 4, turn 3, region of interest 3, signal peptide 1, chain 1, lipid moiety-binding region 1, propeptide 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3ZYJ | X-RAY DIFFRACTION | 3.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2I2-F1 | 84.13 | 0.59 |
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): 510
Disulfide bonds (19): 33–50, 72–92, 80–88, 182–206, 297–306, 299–315, 317–326, 329–354, 364–373, 366–384, 387–396, 399–417, 420–432, 422–438, 440–449, 452–462, 467–480, 474–486, 488–497
Glycosylation sites (4): 133, 320, 406, 433
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
MSigDB gene sets: 293 (showing top):
GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION, MODULE_379, GOBP_REGULATION_OF_NEURON_MIGRATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_NEURON_MIGRATION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_SYNAPTIC_SIGNALING, MODULE_88, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT
GO Biological Process (8): axonogenesis (GO:0007409), regulation of neuron projection development (GO:0010975), modulation of chemical synaptic transmission (GO:0050804), synaptic membrane adhesion (GO:0099560), regulation of neuron projection arborization (GO:0150011), regulation of neuron migration (GO:2001222), nervous system development (GO:0007399), cell differentiation (GO:0030154)
GO Molecular Function (3): cell adhesion molecule binding (GO:0050839), cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), plasma membrane (GO:0005886), presynaptic active zone membrane (GO:0048787), side of membrane (GO:0098552), Schaffer collateral - CA1 synapse (GO:0098685), glutamatergic synapse (GO:0098978), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell-cell adhesion | 2 |
| membrane | 2 |
| synapse | 2 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| neuron projection development | 1 |
| regulation of plasma membrane bounded cell projection organization | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| synapse organization | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of cell projection organization | 1 |
| neuron projection arborization | 1 |
| neuron migration | 1 |
| regulation of cell migration | 1 |
| system development | 1 |
| cellular developmental process | 1 |
| protein binding | 1 |
| cell adhesion mediator activity | 1 |
| binding | 1 |
| cell periphery | 1 |
| presynaptic membrane | 1 |
| presynaptic active zone | 1 |
| synaptic membrane | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
2528 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NTNG1 | LRRC4C | Q9HCJ2 | 999 |
| NTNG1 | CDKL5 | O76039 | 844 |
| NTNG1 | LRRC4 | Q9HBW1 | 799 |
| NTNG1 | LRRC4B | Q9NT99 | 751 |
| NTNG1 | MECP2 | P51608 | 673 |
| NTNG1 | GLRA2 | P23416 | 669 |
| NTNG1 | GPM6B | Q13491 | 668 |
| NTNG1 | GRPR | P30550 | 659 |
| NTNG1 | GDI1 | P31150 | 639 |
| NTNG1 | GLUD2 | P49448 | 638 |
| NTNG1 | ROBO2 | Q9HCK4 | 603 |
| NTNG1 | HCCS | P53701 | 580 |
| NTNG1 | UNC5C | O95185 | 566 |
| NTNG1 | CDH8 | P55286 | 531 |
| NTNG1 | IL1RAPL1 | Q9NZN1 | 531 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NTNG1 | NUDT16L1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| NTNG1 | LRRC4C | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| LRRC4C | NTNG1 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| NTNG1 | LRRC4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4 | NTNG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NTNG1 | RPN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NTNG1 | AMY1A | psi-mi:“MI:0914”(association) | 0.350 |
| NTNG1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NTNG1 | SRPX2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (105): HSPA6 (Affinity Capture-MS), GAS6 (Affinity Capture-MS), LRRC4C (Affinity Capture-Western), LRRC4C (Reconstituted Complex), NTNG1 (Proximity Label-MS), LRRC4C (Co-crystal Structure), MUC5B (Affinity Capture-MS), NUDT16L1 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), BPIFA1 (Affinity Capture-MS), PGA4 (Affinity Capture-MS), LIPF (Affinity Capture-MS), USO1 (Affinity Capture-MS), PPME1 (Affinity Capture-MS), HDLBP (Affinity Capture-MS)
ESM2 similar proteins: A0A6I8RMG7, A0JP86, A4D0S4, O54890, O70309, P02468, P02469, P05106, P0CY46, P11046, P11047, P13387, P13388, P15215, P15800, P18084, P18563, P18564, P19137, P24043, P25391, P35555, P55268, P80747, P98133, Q07441, Q18823, Q1LVF0, Q1RPR6, Q2KIT5, Q5RB89, Q60675, Q61220, Q61292, Q61526, Q61554, Q61555, Q62918, Q6AYF4, Q6UXH1
Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NTNG1 | “up-regulates activity” | LRRC4C | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 5 |
| Benign | 15 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3547 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:107324309:T:A | C92S | 1.000 |
| 1:107324310:G:C | C92S | 1.000 |
| 1:107324387:T:A | W118R | 1.000 |
| 1:107324387:T:C | W118R | 1.000 |
| 1:107324389:G:C | W118C | 1.000 |
| 1:107324389:G:T | W118C | 1.000 |
| 1:107324551:G:C | W172C | 1.000 |
| 1:107324551:G:T | W172C | 1.000 |
| 1:107324581:C:G | C182W | 1.000 |
| 1:107324652:G:A | C206Y | 1.000 |
| 1:107324653:C:G | C206W | 1.000 |
| 1:107324820:T:C | L262P | 1.000 |
| 1:107430812:T:A | C384S | 1.000 |
| 1:107430812:T:C | C384R | 1.000 |
| 1:107430813:G:A | C384Y | 1.000 |
| 1:107430813:G:C | C384S | 1.000 |
| 1:107430814:C:G | C384W | 1.000 |
| 1:107430821:T:A | C387S | 1.000 |
| 1:107430822:G:A | C387Y | 1.000 |
| 1:107430822:G:C | C387S | 1.000 |
| 1:107430823:T:G | C387W | 1.000 |
| 1:107430848:T:A | C396S | 1.000 |
| 1:107430848:T:C | C396R | 1.000 |
| 1:107430849:G:A | C396Y | 1.000 |
| 1:107430849:G:C | C396S | 1.000 |
| 1:107430849:G:T | C396F | 1.000 |
| 1:107430850:T:G | C396W | 1.000 |
| 1:107430857:T:A | C399S | 1.000 |
| 1:107430858:G:C | C399S | 1.000 |
| 1:107436727:T:A | C440S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000012192 (1:107222474 T>C), RS1000015331 (1:107474997 A>T), RS1000018353 (1:107240457 C>T), RS1000026575 (1:107283393 C>G,T), RS1000030157 (1:107333217 A>G), RS1000034719 (1:107313065 G>A), RS1000042553 (1:107409973 C>T), RS1000052186 (1:107431730 A>G), RS1000061495 (1:107162971 G>A,C), RS1000078443 (1:107161262 C>T), RS1000086770 (1:107312795 G>A), RS1000090177 (1:107270258 CTG>C), RS1000102655 (1:107388212 A>T), RS1000109017 (1:107270672 A>G), RS1000111799 (1:107155410 T>C)
Disease associations
OMIM: gene MIM:608818 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| atypical Rett syndrome | Supportive | Autosomal dominant |
| syndromic intellectual disability | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | AD |
Mondo (2): atypical Rett syndrome (MONDO:0017746), syndromic intellectual disability (MONDO:0000508)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs61816456 | Efficacy | 3 | allopurinol |
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases expression, decreases expression, affects cotreatment | 3 |
| monomethylarsonous acid | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| rutecarpine | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cytarabine | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Thapsigargin | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: atypical Rett syndrome, syndromic intellectual disability, complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atypical Rett syndrome, syndromic intellectual disability