RTN1
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Summary
RTN1 (reticulon 1, HGNC:10467) is a protein-coding gene on chromosome 14q23.1, encoding Reticulon-1 (Q16799). Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity.
This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 6252 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_021136
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10467 |
| Approved symbol | RTN1 |
| Name | reticulon 1 |
| Location | 14q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000139970 |
| Ensembl biotype | protein_coding |
| OMIM | 600865 |
| Entrez | 6252 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000267484, ENST00000342503, ENST00000395090, ENST00000432103, ENST00000474911, ENST00000481205, ENST00000490111, ENST00000557422, ENST00000870305, ENST00000966440, ENST00000966441
RefSeq mRNA: 3 — MANE Select: NM_021136
NM_001363702, NM_021136, NM_206852
CCDS: CCDS86396, CCDS9740, CCDS9741
Canonical transcript exons
ENST00000267484 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001094801 | 59726919 | 59727668 |
| ENSE00001094803 | 59870390 | 59870776 |
| ENSE00001094805 | 59745708 | 59746481 |
| ENSE00003461732 | 59603212 | 59603258 |
| ENSE00003509102 | 59603065 | 59603123 |
| ENSE00003582620 | 59603852 | 59603921 |
| ENSE00003588838 | 59605368 | 59605506 |
| ENSE00003661288 | 59607285 | 59607492 |
| ENSE00003845453 | 59595983 | 59596787 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 99.99.
FANTOM5 (CAGE): breadth broad, TPM avg 48.0322 / max 2103.0199, expressed in 878 samples.
FANTOM5 promoters (21 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143472 | 32.8944 | 382 |
| 143492 | 10.0518 | 800 |
| 143474 | 2.5537 | 182 |
| 143473 | 0.7682 | 132 |
| 143491 | 0.5914 | 159 |
| 143471 | 0.2806 | 93 |
| 143475 | 0.2384 | 96 |
| 207241 | 0.1548 | 75 |
| 143493 | 0.1093 | 68 |
| 143469 | 0.0950 | 41 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 99.99 | gold quality |
| endothelial cell | CL:0000115 | 99.98 | gold quality |
| pons | UBERON:0000988 | 99.86 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.85 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.85 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.85 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.84 | gold quality |
| parietal lobe | UBERON:0001872 | 99.82 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.82 | gold quality |
| occipital lobe | UBERON:0002021 | 99.82 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.82 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.81 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.81 | gold quality |
| cortical plate | UBERON:0005343 | 99.81 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.80 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.80 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.80 | gold quality |
| cerebellum | UBERON:0002037 | 99.79 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.78 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.78 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.75 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.74 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.71 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.71 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.70 | gold quality |
| frontal cortex | UBERON:0001870 | 99.68 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.68 | gold quality |
| frontal lobe | UBERON:0016525 | 99.68 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 99.66 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 16.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9154 | yes | 3785.08 |
| E-GEOD-93593 | yes | 2962.37 |
| E-MTAB-8894 | yes | 2409.50 |
| E-HCAD-56 | yes | 1965.87 |
| E-MTAB-10485 | yes | 1705.94 |
| E-MTAB-6911 | yes | 1393.50 |
| E-GEOD-75140 | yes | 1283.04 |
| E-MTAB-7316 | yes | 1007.26 |
| E-HCAD-5 | yes | 60.05 |
| E-HCAD-35 | yes | 52.06 |
| E-HCAD-25 | yes | 36.85 |
| E-GEOD-84465 | yes | 23.15 |
| E-MTAB-5061 | yes | 13.57 |
| E-ANND-3 | yes | 5.25 |
| E-HCAD-10 | yes | 5.07 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 22)
- RTN1-A and RTN1-B share N-terminal 168 amino acid region, suggesting that the 168 amino acid region might play a role in regulating the endocytic process (PMID:14995077)
- Data demonstrate that reticulon 1 interacts specifically with spastin. (PMID:16602018)
- analyzed the endoplasmic reticulum (ER) localization signal of human RTN1-A. Mutant proteins lacking the first (39 residues) or second (36 residues) hydrophobic segment showed ER localization (PMID:17303085)
- These data indicate that RTN-1C is able to modulate the cellular sensitivity to different apoptotic pathways representing a promising molecular target for new drug development. (PMID:17596210)
- Nucleic acid binding of the RTN1-C C terminal region is reported with a view towards the functional role of a reticulon protein. (PMID:19140693)
- RTN-1C protein binds to DNA and that its biological function is regulated by acetylation and is coupled to the inhibition of HDAC activity. (PMID:19668229)
- RTN-1C is able to specifically regulate gene expression, modulating transcript clusters which have been implicated in the onset of neurodegenerative disorders (PMID:20708685)
- In the present study a potential metal ion binding motif (HxE/D) at the C-terminal of the RTN1-C has been identified and its capability to bind metals investigated by UV-vis, CD, multidimensional NMR spectroscopy and biological assays. (PMID:22522967)
- RTN1-C induces PDI redistribution in endoplasmic reticulum vesicles, and concomitantly modulates its activity by decreasing the levels of its S-nitrosylated form. (PMID:23559015)
- MANF is a protein that interacts with RTN1-C (PMID:25543119)
- RTN-1C involvement in the regulation of Endoplasmic reticulum-mitochondria cross-talk, defines a role for RTN-1C in maintaining the function of contacts between the two organelles. (PMID:25573430)
- RTN1A contributes to progression of kidney disease by inducing ER stress. (PMID:26227493)
- Results suggest evidence of genetic association between common variants in RTN1 and end-stage kidney disease in African-Americans and European-Americans. (PMID:26496126)
- RTN1A is a key mediator for proteinuria-induced tubular cell toxicity and renal fibrosis. (PMID:26739891)
- Results show that mice deficient in RTN1 are generally normal and that RTN1 is a predominantly expressed in the nervous system, mainly in neurons. In neurons, RTN1 is enriched in dendrites. Also, RTN1 deficiency shows no obvious effects on BACE1 activity due to compensation by RTN3, as RTN1 deficiency causes elevation of RTN3 expression suggesting that RTN1 does not have a prominent role in Alzheimer’s pathogenesis. (PMID:28733667)
- Data suggest that reticulon 1A (RTN1A) functions not only as an endoplasmic reticulum-shaping protein but also as a protein that promotes contacts between endoplasmic reticulum and mitochondria. (PMID:28760823)
- Study findings show that RTN1A is a marker for cells of the dendritic lineage, including Langerhans cells and dermal dendritic cells. (PMID:29369773)
- Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma. (PMID:34702929)
- Reticulon-1A mediates diabetic kidney disease progression through endoplasmic reticulum-mitochondrial contacts in tubular epithelial cells. (PMID:35469894)
- [The Expression of RTN1 in Lung Adenocarcinoma and Its Effect on Immune Microenvironment]. (PMID:35747917)
- CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA. (PMID:35804263)
- Interoperability of RTN1A in dendrite dynamics and immune functions in human Langerhans cells. (PMID:36223176)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rtn1b | ENSDARG00000021143 |
| mus_musculus | Rtn1 | ENSMUSG00000021087 |
| rattus_norvegicus | Rtn1 | ENSRNOG00000004794 |
| drosophila_melanogaster | Rtnl2 | FBGN0015831 |
| drosophila_melanogaster | Rtnl1 | FBGN0053113 |
Paralogs (4): RTN4 (ENSG00000115310), RTN2 (ENSG00000125744), RTN3 (ENSG00000133318), PRR18 (ENSG00000176381)
Protein
Protein identifiers
Reticulon-1 — Q16799 (reviewed: Q16799)
Alternative names: Neuroendocrine-specific protein
All UniProt accessions (2): Q16799, A8MT72
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity.
Subunit / interactions. Interacts with NDRG1. Interacts with BACE1. Interacts with TMEM33. Interacts with UGCG; regulates the ceramide glucosyltransferase activity of UGCG.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane.
Tissue specificity. Expressed in neural and neuroendocrine tissues and cell cultures derived therefrom. Expression of isoform RTN1-C is strongly correlated with neuronal differentiation.
Post-translational modifications. Isoforms RTN1-A and RTN1-B are phosphorylated.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16799-1 | RTN1-A, NSP-A | yes |
| Q16799-2 | RTN1-B, NSP-B | |
| Q16799-3 | RTN1-C, NSP-C |
RefSeq proteins (3): NP_001350631, NP_066959, NP_996734 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003388 | Reticulon | Domain |
| IPR046964 | RTN1-4 | Family |
Pfam: PF02453
UniProt features (19 total): modified residue 4, region of interest 4, splice variant 3, transmembrane region 2, sequence variant 2, compositionally biased region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16799-F1 | 48.88 | 0.13 |
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 (4): 327, 350, 352, 487
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 327 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, GNF2_RTN1, TGCACTT_MIR519C_MIR519B_MIR519A, AREB6_01, GOBP_NEUROGENESIS, AAAYRNCTG_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_AMIDE_METABOLIC_PROCESS, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, EVI1_05, MODULE_66, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_REGULATION_OF_AMYLOID_PRECURSOR_PROTEIN_CATABOLIC_PROCESS, DOANE_RESPONSE_TO_ANDROGEN_DN
GO Biological Process (5): brain development (GO:0007420), neuron differentiation (GO:0030182), endoplasmic reticulum tubular network formation (GO:0071787), negative regulation of amyloid-beta formation (GO:1902430), endoplasmic reticulum tubular network membrane organization (GO:1990809)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), postsynaptic density (GO:0014069), nuclear body (GO:0016604), dendrite (GO:0030425), neuron projection (GO:0043005), neuronal cell body (GO:0043025), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endoplasmic reticulum tubular network organization | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| cellular component assembly | 1 |
| amyloid-beta formation | 1 |
| regulation of amyloid-beta formation | 1 |
| negative regulation of amyloid precursor protein catabolic process | 1 |
| endoplasmic reticulum membrane organization | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| plasma membrane bounded cell projection | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2142 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RTN1 | SPAST | Q9UBP0 | 896 |
| RTN1 | REEP5 | Q00765 | 885 |
| RTN1 | ATL3 | Q6DD88 | 860 |
| RTN1 | ATL2 | Q8NHH9 | 857 |
| RTN1 | ATL1 | Q8WXF7 | 822 |
| RTN1 | TMEM33 | P57088 | 802 |
| RTN1 | BACE1 | P56817 | 702 |
| RTN1 | RTN2 | O75298 | 687 |
| RTN1 | NUS1 | Q96E22 | 651 |
| RTN1 | MANF | P55145 | 649 |
| RTN1 | SSNA1 | O43805 | 635 |
| RTN1 | SEC63 | Q9UGP8 | 625 |
| RTN1 | GABARAP | O95166 | 608 |
| RTN1 | ZFYVE27 | Q5T4F4 | 605 |
| RTN1 | ZFYVE26 | Q68DK2 | 586 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GYPB | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM241A | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| MANF | RTN1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| RTN1 | MANF | psi-mi:“MI:0403”(colocalization) | 0.460 |
| RTN1 | ADRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | CCR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | F2RL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | CHRM5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | yopB | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | rstB | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | RTN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | FHIP1B | psi-mi:“MI:0915”(physical association) | 0.370 |
| RTN1 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| RTN4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RTN1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| IFITM3 | PRAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| RTN3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RTN1 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
| DHCR24 | WFS1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM169 | PTGES3L-AARSD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (155): SDCBP (Two-hybrid), RTN1 (Affinity Capture-MS), FAM160A2 (Two-hybrid), PLEKHF2 (Two-hybrid), RTN1 (Two-hybrid), RTN1 (Two-hybrid), RTN1 (Two-hybrid), DYRK2 (Affinity Capture-MS), RTN4 (Affinity Capture-MS), RTN2 (Affinity Capture-MS), PLSCR1 (Affinity Capture-MS), FAM210B (Affinity Capture-MS), METTL7A (Affinity Capture-MS), C4orf32 (Affinity Capture-MS), RTN1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I5ZN27, A6X8Z5, E1AZ71, F1N8V3, O35668, O54963, O70318, P20689, P48165, P51954, P54256, P54257, P55917, P62025, P70278, Q01538, Q13029, Q13127, Q14028, Q16799, Q28139, Q28181, Q2M1Z3, Q3SYS4, Q3UH66, Q4KMM3, Q4V8B0, Q5DW34, Q5IS59, Q5TCY1, Q62100, Q63HN8, Q640N3, Q64548, Q6IR42, Q6PCN3, Q7Z6I6, Q811Q2, Q8BYM7, Q8C5W0
Diamond homologs: A7MC64, O70622, O75298, O95197, Q08D83, Q16799, Q28D16, Q4FZ58, Q4FZ76, Q5IS59, Q5J6M8, Q5MY90, Q5RBL9, Q64548, Q68EW1, Q6IFY7, Q6RJR6, Q6WN19, Q8K0T0, Q99P72, Q9ES97, Q9JK11, Q9NQC3, Q6NPD8, Q9SH59
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 1 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1339 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:59603063:A:AC | donor_gain | 1.0000 |
| 14:59603064:C:CC | donor_gain | 1.0000 |
| 14:59603841:T:C | donor_gain | 1.0000 |
| 14:59603846:TCTTA:T | donor_loss | 1.0000 |
| 14:59603847:CTTA:C | donor_loss | 1.0000 |
| 14:59603848:TTAC:T | donor_loss | 1.0000 |
| 14:59603849:TA:T | donor_loss | 1.0000 |
| 14:59603850:A:AC | donor_gain | 1.0000 |
| 14:59603850:A:C | donor_loss | 1.0000 |
| 14:59603850:AC:A | donor_gain | 1.0000 |
| 14:59603851:C:CC | donor_gain | 1.0000 |
| 14:59603851:C:G | donor_loss | 1.0000 |
| 14:59603851:CC:C | donor_gain | 1.0000 |
| 14:59603918:CAAA:C | acceptor_gain | 1.0000 |
| 14:59603920:AA:A | acceptor_gain | 1.0000 |
| 14:59603922:C:CC | acceptor_gain | 1.0000 |
| 14:59605366:A:AC | donor_gain | 1.0000 |
| 14:59605367:C:CC | donor_gain | 1.0000 |
| 14:59605387:T:TA | donor_gain | 1.0000 |
| 14:59605406:T:TA | donor_gain | 1.0000 |
| 14:59605411:AGTT:A | donor_gain | 1.0000 |
| 14:59605414:T:TA | donor_gain | 1.0000 |
| 14:59607278:CACT:C | donor_loss | 1.0000 |
| 14:59607281:TCA:T | donor_loss | 1.0000 |
| 14:59607282:CA:C | donor_loss | 1.0000 |
| 14:59607283:A:AC | donor_gain | 1.0000 |
| 14:59607284:C:CT | donor_gain | 1.0000 |
| 14:59607284:CTTGA:C | donor_gain | 1.0000 |
| 14:59607490:TAG:T | acceptor_gain | 1.0000 |
| 14:59603064:CTTTG:C | donor_gain | 0.9900 |
AlphaMissense
5003 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:59603906:A:G | W710R | 1.000 |
| 14:59603906:A:T | W710R | 1.000 |
| 14:59607347:A:C | S637R | 1.000 |
| 14:59607347:A:T | S637R | 1.000 |
| 14:59607349:T:G | S637R | 1.000 |
| 14:59607392:G:C | S622R | 1.000 |
| 14:59607392:G:T | S622R | 1.000 |
| 14:59607394:T:G | S622R | 1.000 |
| 14:59607401:G:C | S619R | 1.000 |
| 14:59607401:G:T | S619R | 1.000 |
| 14:59607403:T:G | S619R | 1.000 |
| 14:59603872:C:T | G721D | 0.999 |
| 14:59603887:C:T | G716D | 0.999 |
| 14:59603888:C:G | G716R | 0.999 |
| 14:59605411:A:G | L690P | 0.999 |
| 14:59607319:C:G | A647P | 0.999 |
| 14:59607327:A:T | V644D | 0.999 |
| 14:59607342:C:G | R639P | 0.999 |
| 14:59607363:A:G | L632P | 0.999 |
| 14:59607372:A:G | L629P | 0.999 |
| 14:59607384:G:T | A625D | 0.999 |
| 14:59607437:A:C | S607R | 0.999 |
| 14:59607437:A:T | S607R | 0.999 |
| 14:59607439:T:G | S607R | 0.999 |
| 14:59603873:C:G | G721R | 0.998 |
| 14:59603874:A:C | N720K | 0.998 |
| 14:59603874:A:T | N720K | 0.998 |
| 14:59603888:C:A | G716C | 0.998 |
| 14:59603902:A:G | L711P | 0.998 |
| 14:59603914:A:T | V707D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000006785 (14:59756691 T>C), RS1000015672 (14:59805182 C>T), RS1000020589 (14:59814986 T>C), RS1000020971 (14:59606630 T>C), RS1000027637 (14:59833759 G>T), RS1000029140 (14:59718203 A>G), RS1000031357 (14:59859459 T>C), RS1000036537 (14:59841904 A>G), RS1000068830 (14:59769046 T>A,C), RS1000079266 (14:59612323 C>G,T), RS1000090379 (14:59866396 A>C), RS1000104603 (14:59761622 A>T), RS1000127703 (14:59599086 A>AT), RS1000129105 (14:59767700 G>C), RS1000154302 (14:59612630 C>G)
Disease associations
OMIM: gene MIM:600865 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007201_184 | Schizophrenia | 8.000000e-08 |
| GCST007201_351 | Schizophrenia | 3.000000e-06 |
| GCST007257_13 | Broad depression or schizophrenia | 8.000000e-10 |
| GCST009262_7 | Putamen volume | 5.000000e-07 |
| GCST009600_113 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression, increases methylation | 8 |
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 4 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | increases expression, affects methylation, increases abundance | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Panobinostat | decreases expression, affects cotreatment | 2 |
| Acetaminophen | affects expression, decreases expression | 2 |
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | increases methylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases expression | 1 |
| methylparaben | decreases expression | 1 |
| tobacco tar | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| arsenic disulfide | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| N-butyrylglucosamine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | increases expression | 1 |
| Amphotericin B | decreases expression | 1 |
| Cytarabine | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, obsessive-compulsive disorder