PJA1
geneOn this page
Also known as FLJ11830RNF70PRAJA1
Summary
PJA1 (praja ring finger ubiquitin ligase 1, HGNC:16648) is a protein-coding gene on chromosome Xq13.1, encoding E3 ubiquitin-protein ligase Praja-1 (Q8NG27). Has E2-dependent E3 ubiquitin-protein ligase activity.
This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 64219 — RefSeq curated summary.
At a glance
- Gene–disease (curated): X-linked complex neurodevelopmental disorder (Moderate, GenCC)
- GWAS associations: 6
- Clinical variants (ClinVar): 96 total
- MANE Select transcript:
NM_001032396
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16648 |
| Approved symbol | PJA1 |
| Name | praja ring finger ubiquitin ligase 1 |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11830, RNF70, PRAJA1 |
| Ensembl gene | ENSG00000181191 |
| Ensembl biotype | protein_coding |
| OMIM | 300420 |
| Entrez | 64219 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000361478, ENST00000374571, ENST00000374583, ENST00000374584, ENST00000471141, ENST00000477231, ENST00000590146, ENST00000901511
RefSeq mRNA: 5 — MANE Select: NM_001032396
NM_001032396, NM_001382775, NM_001382776, NM_022368, NM_145119
CCDS: CCDS14392, CCDS14393, CCDS35316
Canonical transcript exons
ENST00000374571 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001463848 | 69160861 | 69163140 |
| ENSE00002894178 | 69165372 | 69165453 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 97.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7009 / max 364.7686, expressed in 1757 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199523 | 14.3863 | 1750 |
| 199524 | 1.3146 | 724 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 97.93 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.63 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.46 | gold quality |
| ventricular zone | UBERON:0003053 | 97.20 | gold quality |
| embryo | UBERON:0000922 | 96.11 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.20 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.30 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.09 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.01 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.91 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.62 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.59 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.42 | gold quality |
| hypothalamus | UBERON:0001898 | 93.33 | gold quality |
| neocortex | UBERON:0001950 | 92.98 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.96 | gold quality |
| putamen | UBERON:0001874 | 92.78 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.78 | gold quality |
| frontal cortex | UBERON:0001870 | 92.67 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.63 | gold quality |
| amygdala | UBERON:0001876 | 92.61 | gold quality |
| telencephalon | UBERON:0001893 | 92.56 | gold quality |
| forebrain | UBERON:0001890 | 92.24 | gold quality |
| brain | UBERON:0000955 | 91.49 | gold quality |
| temporal lobe | UBERON:0001871 | 91.31 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.02 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.00 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.54 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.12 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.08 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYOD1
miRNA regulators (miRDB)
35 targeting PJA1, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| 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-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-100-3P | 99.20 | 67.33 | 672 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
| HSA-MIR-4752 | 98.71 | 68.04 | 833 |
| HSA-MIR-7850-5P | 98.12 | 67.28 | 1111 |
| HSA-MIR-509-3P | 98.12 | 67.25 | 612 |
| HSA-MIR-876-5P | 97.99 | 68.49 | 1345 |
| HSA-MIR-5088-5P | 97.97 | 64.28 | 487 |
| HSA-MIR-4275 | 97.96 | 68.42 | 1549 |
Literature-anchored findings (GeneRIF, showing 10)
- A RING finger protein Praja1 regulates Dlx5-dependent transcription through its ubiquitin ligase activity for the Dlx/Msx-interacting MAGE/Necdin family protein, Dlxin-1. (PMID:11959851)
- Involved in protein ubiquitination in the brain. Candidate gene for X-linked mental retardation. (PMID:12036302)
- Data provide clues into novel aspects of Praja1 function. (PMID:21461837)
- these results suggest a role for PRAJA1 in regulating the level of PRC2 by targeting its free subunits for Ub-mediated proteasomal degradation. (PMID:21513699)
- Targeting the E3 Ubiquitin Ligase PJA1 Enhances Tumor-Suppressing TGFbeta Signaling. (PMID:32127355)
- A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. (PMID:32530565)
- Praja1 RING-finger E3 ubiquitin ligase suppresses neuronal cytoplasmic TDP-43 aggregate formation. (PMID:32686212)
- E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma apoptosis and invasion through promoting FOXR2 degradation. (PMID:33839405)
- Praja1 ubiquitin ligase facilitates degradation of polyglutamine proteins and suppresses polyglutamine-mediated toxicity. (PMID:34161122)
- PJA1-mediated suppression of pyroptosis as a driver of docetaxel resistance in nasopharyngeal carcinoma. (PMID:38906860)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pja2 | ENSDARG00000100296 |
| mus_musculus | Pja1 | ENSMUSG00000034403 |
| rattus_norvegicus | Pja1 | ENSRNOG00000047339 |
Paralogs (1): PJA2 (ENSG00000198961)
Protein
Protein identifiers
E3 ubiquitin-protein ligase Praja-1 — Q8NG27 (reviewed: Q8NG27)
Alternative names: RING finger protein 70, RING-type E3 ubiquitin transferase Praja-1
All UniProt accessions (3): Q8NG27, K7EPI8, K7EPW5
UniProt curated annotations — full annotation on UniProt →
Function. Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome. May be involved in protein sorting.
Subunit / interactions. Binds ubiquitin-conjugating enzymes (E2s). In vitro, interacts with the ubiquitin-conjugating enzyme, UBE2D2.
Tissue specificity. Expressed in various regions of the brain including the cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Highest levels in the cerebral cortex.
Post-translational modifications. Substrate for E2-dependent ubiquitination.
Domain organisation. The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
Miscellaneous. PubMed:12036302 reported that isoform 2 arises by alternative initiation.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NG27-1 | 1 | yes |
| Q8NG27-2 | 2, PJA1-beta, Praja1-beta | |
| Q8NG27-3 | 3 |
RefSeq proteins (5): NP_001027568, NP_001369704, NP_001369705, NP_071763, NP_660095 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
Pfam: PF13639
UniProt features (30 total): compositionally biased region 8, strand 5, modified residue 4, turn 3, splice variant 2, sequence variant 2, region of interest 2, helix 2, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2L0B | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NG27-F1 | 50.15 | 0.07 |
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): 265, 277, 365, 367
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 149 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GGGTGGRR_PAX4_03, MARTINEZ_RB1_TARGETS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, HP1SITEFACTOR_Q6, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, EGR1_01, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, GOBP_PROTEIN_CATABOLIC_PROCESS, TAATTA_CHX10_01, MARSON_BOUND_BY_FOXP3_UNSTIMULATED
GO Biological Process (2): protein ubiquitination (GO:0016567), protein catabolic process (GO:0030163)
GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein modification by small protein conjugation | 1 |
| macromolecule catabolic process | 1 |
| protein metabolic process | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
840 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PJA1 | MAGED1 | Q9Y5V3 | 992 |
| PJA1 | OPHN1 | O60890 | 828 |
| PJA1 | NDN | Q99608 | 789 |
| PJA1 | EFNB1 | P98172 | 715 |
| PJA1 | UBE2D2 | P51669 | 639 |
| PJA1 | MAGEA1 | P43355 | 515 |
| PJA1 | MAGEB18 | Q96M61 | 417 |
| PJA1 | NSMCE3 | Q96MG7 | 406 |
| PJA1 | SMURF2 | Q9HAU4 | 388 |
| PJA1 | EPHB1 | P54762 | 386 |
| PJA1 | GINM1 | Q9NU53 | 363 |
| PJA1 | EPHB4 | P54760 | 360 |
| PJA1 | YIPF6 | Q96EC8 | 327 |
| PJA1 | MAGEF1 | Q9HAY2 | 324 |
| PJA1 | SMC5 | Q8IY18 | 322 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PJA1 | MAGED1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| MAGED1 | PJA1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| MAGED1 | PJA1 | psi-mi:“MI:0403”(colocalization) | 0.740 |
| NSMCE3 | PJA1 | psi-mi:“MI:0914”(association) | 0.710 |
| NSMCE3 | PJA1 | psi-mi:“MI:0915”(physical association) | 0.710 |
| PJA1 | SMC5 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| CPA6 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC27 | HMOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| SPSB2 | ARHGEF10 | psi-mi:“MI:0914”(association) | 0.530 |
| SPSB4 | ARHGEF10 | psi-mi:“MI:0914”(association) | 0.530 |
| SMAD3 | FAM83G | psi-mi:“MI:0915”(physical association) | 0.400 |
| PJA1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| IQCN | TARSL2 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPLL | TBX3 | psi-mi:“MI:0914”(association) | 0.350 |
| DOCK5 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC27 | HMOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ARRDC2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| TXNIP | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO9B | PPM1G | psi-mi:“MI:0914”(association) | 0.350 |
| FBXO10 | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| IQCN | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP16 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (179): PJA1 (Biochemical Activity), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), PJA1 (Proximity Label-MS), PJA1 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LFM6, A0A1B0GVH6, A1A4G5, A1CQN6, A7A241, A9RNY0, B0QZF7, B9UYK6, E9Q309, H0WFA5, O23372, O35413, O94875, P02686, P43587, Q0VFP3, Q0WL69, Q12912, Q17QQ9, Q1G3K8, Q32KY7, Q3UTJ2, Q499E5, Q4R309, Q4R881, Q4V7T5, Q56WM6, Q5E9A0, Q5PPL1, Q5R6I3, Q5VT06, Q62417, Q6AYU0, Q6DD19, Q6GP48, Q6H7U2, Q8K2H1, Q8L4M6, Q8NEY8, Q8NG27
Diamond homologs: A5WWA0, A8Y4B2, E9QAU8, O00237, O22197, O22283, O43085, O54965, O55176, O64763, P0CH03, P0CH30, P0DPR2, P87119, P90859, Q08CG8, Q08D68, Q0II22, Q2KHN1, Q3T0W3, Q3U2C5, Q3UHJ8, Q4KLR8, Q4V7B8, Q566M8, Q5DTZ6, Q5M974, Q5QLR5, Q5RBT7, Q5SPX3, Q5SSZ7, Q5XHH7, Q66HG0, Q6AXU4, Q6DIP3, Q6GPV5, Q6IRP0, Q6NPT7, Q6NRL6, Q6NRX0
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PJA1 | down-regulates | SPTBN1 | ubiquitination |
| Ub:E2 | “up-regulates activity” | PJA1 | ubiquitination |
| PJA1 | “down-regulates activity” | SMAD3 | ubiquitination |
| PJA1 | “down-regulates quantity by destabilization” | EZH2 | ubiquitination |
| MYOD1 | “up-regulates quantity” | PJA1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 14 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
22 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:69163421:T:A | donor_gain | 0.8900 |
| X:69163501:CAAGA:C | donor_gain | 0.3500 |
| X:69162382:C:CA | acceptor_gain | 0.3400 |
| X:69163428:AGG:A | donor_gain | 0.3300 |
| X:69162383:T:A | acceptor_gain | 0.3100 |
| X:69163497:A:AC | donor_gain | 0.3000 |
| X:69162382:C:CC | acceptor_gain | 0.2800 |
| X:69162381:ACTGT:A | acceptor_gain | 0.2600 |
| X:69163418:CTTT:C | donor_gain | 0.2500 |
| X:69163531:A:AC | donor_gain | 0.2400 |
| X:69162381:A:AC | acceptor_gain | 0.2300 |
| X:69163417:A:AC | donor_gain | 0.2300 |
| X:69163418:C:CC | donor_gain | 0.2300 |
| X:69162408:A:T | acceptor_gain | 0.2200 |
| X:69163419:T:C | donor_gain | 0.2200 |
| X:69161891:G:GA | acceptor_gain | 0.2100 |
| X:69161892:A:AA | acceptor_gain | 0.2100 |
| X:69161893:A:AA | acceptor_gain | 0.2100 |
| X:69163427:AAGG:A | donor_gain | 0.2100 |
| X:69162526:A:AC | donor_gain | 0.2000 |
| X:69162527:C:CC | donor_gain | 0.2000 |
| X:69162747:TGGCC:T | acceptor_gain | 0.2000 |
AlphaMissense
3899 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:69161335:C:T | C635Y | 1.000 |
| X:69161336:A:G | C635R | 1.000 |
| X:69161343:G:C | C632W | 1.000 |
| X:69161344:C:T | C632Y | 1.000 |
| X:69161345:A:G | C632R | 1.000 |
| X:69161362:A:G | L626P | 1.000 |
| X:69161364:C:A | W625C | 1.000 |
| X:69161364:C:G | W625C | 1.000 |
| X:69161366:A:G | W625R | 1.000 |
| X:69161366:A:T | W625R | 1.000 |
| X:69161376:A:C | C621W | 1.000 |
| X:69161377:C:T | C621Y | 1.000 |
| X:69161378:A:G | C621R | 1.000 |
| X:69161388:G:C | F617L | 1.000 |
| X:69161388:G:T | F617L | 1.000 |
| X:69161389:A:G | F617S | 1.000 |
| X:69161390:A:G | F617L | 1.000 |
| X:69161401:C:T | C613Y | 1.000 |
| X:69161402:A:G | C613R | 1.000 |
| X:69161407:A:G | L611P | 1.000 |
| X:69161445:G:C | C598W | 1.000 |
| X:69161446:C:T | C598Y | 1.000 |
| X:69161447:A:G | C598R | 1.000 |
| X:69161454:G:C | C595W | 1.000 |
| X:69161455:C:T | C595Y | 1.000 |
| X:69161456:A:G | C595R | 1.000 |
| X:69161575:A:G | L555S | 1.000 |
| X:69161584:A:G | L552P | 1.000 |
| X:69161587:G:T | A551D | 1.000 |
| X:69161600:C:G | A547P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1001541505 (X:69162046 C>A,T), RS1001855452 (X:69167006 A>G), RS1002169974 (X:69166742 C>T), RS1002723963 (X:69165265 C>G,T), RS1002860071 (X:69165507 G>A), RS1003315706 (X:69163221 G>T), RS1003958091 (X:69163244 T>C), RS1004027372 (X:69165710 G>GT), RS1004275192 (X:69164640 G>T), RS1005211585 (X:69167337 T>A), RS1006043710 (X:69160401 T>G), RS1006404444 (X:69160349 A>C), RS1006767177 (X:69161777 C>A,G), RS1007814469 (X:69166471 A>C), RS1008138395 (X:69163780 A>T)
Disease associations
OMIM: gene MIM:300420 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| X-linked complex neurodevelopmental disorder | Moderate | X-linked |
Mondo (1): X-linked complex neurodevelopmental disorder (MONDO:0100148)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_98 | Schizophrenia | 2.000000e-10 |
| GCST006803_26 | Schizophrenia | 1.000000e-12 |
| GCST008129_36 | Body mass index | 2.000000e-10 |
| GCST008362_133 | Birth weight | 4.000000e-10 |
| GCST90002400_2 | Plateletcrit | 5.000000e-12 |
| GCST90002402_515 | Platelet count | 3.000000e-14 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004344 | birth weight |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Decitabine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Azacitidine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Selenium | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2GT | HAP1 PJA1 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: X-linked complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): X-linked complex neurodevelopmental disorder