TSPAN6
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Also known as T245TSPAN-6
Summary
TSPAN6 (tetraspanin 6, HGNC:11858) is a protein-coding gene on chromosome Xq22.1, encoding Tetraspanin-6 (O43657).
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing.
Source: NCBI Gene 7105 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 72 total
- MANE Select transcript:
NM_003270
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11858 |
| Approved symbol | TSPAN6 |
| Name | tetraspanin 6 |
| Location | Xq22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | T245, TSPAN-6 |
| Ensembl gene | ENSG00000000003 |
| Ensembl biotype | protein_coding |
| OMIM | 300191 |
| Entrez | 7105 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000373020, ENST00000494424, ENST00000496771, ENST00000612152, ENST00000867886, ENST00000867887, ENST00000867888, ENST00000867889, ENST00000867890, ENST00000867891, ENST00000867892, ENST00000966005, ENST00000966006
RefSeq mRNA: 5 — MANE Select: NM_003270
NM_001278740, NM_001278741, NM_001278742, NM_001278743, NM_003270
CCDS: CCDS14470, CCDS76001
Canonical transcript exons
ENST00000373020 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000401072 | 100632485 | 100632568 |
| ENSE00000868868 | 100630759 | 100630866 |
| ENSE00001459322 | 100627108 | 100629986 |
| ENSE00001855382 | 100636608 | 100636806 |
| ENSE00003554016 | 100633405 | 100633539 |
| ENSE00003654571 | 100635178 | 100635252 |
| ENSE00003658810 | 100633931 | 100634029 |
| ENSE00003662440 | 100635558 | 100635746 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 99.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.8982 / max 1008.5052, expressed in 1444 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199920 | 29.3606 | 1425 |
| 199922 | 3.2347 | 1084 |
| 199924 | 1.2345 | 571 |
| 199921 | 1.1978 | 735 |
| 199925 | 0.3975 | 201 |
| 199926 | 0.3411 | 175 |
| 199927 | 0.0780 | 11 |
| 199919 | 0.0541 | 19 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.96 | gold quality |
| parotid gland | UBERON:0001831 | 99.35 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.24 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.08 | gold quality |
| male germ cell | CL:0000015 | 99.04 | gold quality |
| bronchus | UBERON:0002185 | 98.95 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 98.83 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.98 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 97.62 | gold quality |
| tibia | UBERON:0000979 | 97.52 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 97.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.26 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.96 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.94 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.86 | gold quality |
| renal medulla | UBERON:0000362 | 96.84 | gold quality |
| oral cavity | UBERON:0000167 | 96.75 | gold quality |
| right testis | UBERON:0004534 | 96.61 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.55 | gold quality |
| left testis | UBERON:0004533 | 96.47 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 95.95 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.72 | gold quality |
| ventricular zone | UBERON:0003053 | 95.58 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.47 | gold quality |
| left ovary | UBERON:0002119 | 95.36 | gold quality |
| adult organism | UBERON:0007023 | 95.34 | gold quality |
| testis | UBERON:0000473 | 95.33 | gold quality |
| ovary | UBERON:0000992 | 95.03 | gold quality |
| right ovary | UBERON:0002118 | 94.91 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75140 | yes | 542.78 |
| E-HCAD-10 | yes | 26.68 |
| E-GEOD-93593 | yes | 15.28 |
| E-ANND-3 | yes | 13.63 |
| E-CURD-114 | yes | 7.89 |
| E-CURD-112 | yes | 6.12 |
| E-GEOD-99795 | no | 122.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
111 targeting TSPAN6, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
Literature-anchored findings (GeneRIF, showing 7)
- TSPAN6 functions as a negative regulator of the RLR pathway by interacting with MAVS in a ubiquitination-dependent manner. (PMID:22908223)
- Results shows that TSPAN6 is a crucial player in Amyloid Precursor Protein-C-terminal fragment turnover (PMID:28279219)
- Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer. (PMID:32468130)
- Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer. (PMID:34521767)
- TSPAN6 is a suppressor of Ras-driven cancer. (PMID:35184157)
- TSPAN6 reinforces the malignant progression of glioblastoma via interacting with CDK5RAP3 and regulating STAT3 signaling pathway. (PMID:38725860)
- New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology. (PMID:39031113)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspan6 | ENSDARG00000015759 |
| mus_musculus | Tspan6 | ENSMUSG00000067377 |
| rattus_norvegicus | Tspan6 | ENSRNOG00000003786 |
Paralogs (32): CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Tetraspanin-6 — O43657 (reviewed: O43657)
Alternative names: A15 homolog, Putative NF-kappa-B-activating protein 321, T245 protein, Tetraspanin TM4-D, Transmembrane 4 superfamily member 6
All UniProt accessions (2): A0A087WYV6, O43657
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Similarity. Belongs to the tetraspanin (TM4SF) family.
RefSeq proteins (5): NP_001265669, NP_001265670, NP_001265671, NP_001265672, NP_003261* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000301 | Tetraspanin_animals | Family |
| IPR008952 | Tetraspanin_EC2_sf | Homologous_superfamily |
| IPR018499 | Tetraspanin/Peripherin | Family |
| IPR018503 | Tetraspanin_CS | Conserved_site |
| IPR048232 | TSN6/7_LEL | Domain |
Pfam: PF00335
UniProt features (12 total): topological domain 5, transmembrane region 4, chain 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43657-F1 | 88.17 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 134
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 210 (showing top):
GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, AREB6_01, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, BROWNE_HCMV_INFECTION_48HR_DN, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, TSENG_IRS1_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION
GO Biological Process (3): negative regulation of cytoplasmic pattern recognition receptor signaling pathway (GO:0039532), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), negative regulation of canonical NF-kappaB signal transduction (GO:0043124)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of intracellular signal transduction | 2 |
| canonical NF-kappaB signal transduction | 2 |
| regulation of canonical NF-kappaB signal transduction | 2 |
| negative regulation of immune system process | 1 |
| cytoplasmic pattern recognition receptor signaling pathway | 1 |
| regulation of cytoplasmic pattern recognition receptor signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
922 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPAN6 | SDCBP | O00560 | 742 |
| TSPAN6 | TM4SF1 | P30408 | 584 |
| TSPAN6 | MAVS | Q7Z434 | 524 |
| TSPAN6 | SH2D7 | A6NKC9 | 514 |
| TSPAN6 | TSG101 | Q99816 | 477 |
| TSPAN6 | ZNF253 | O75346 | 472 |
| TSPAN6 | ITGB1 | P05556 | 470 |
| TSPAN6 | CLEC5A | Q9NY25 | 465 |
| TSPAN6 | TSPAN13 | O95857 | 454 |
| TSPAN6 | CD63 | P08962 | 432 |
| TSPAN6 | TM4SF5 | O14894 | 427 |
| TSPAN6 | PNMA1 | Q8ND90 | 425 |
| TSPAN6 | SLC39A6 | Q13433 | 412 |
| TSPAN6 | ECM1 | Q16610 | 412 |
| TSPAN6 | TSPAN31 | Q12999 | 395 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM30B | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR141 | STXBP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINA12 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFRSF17 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM185A | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| CDS1 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC5A | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN6 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TSPAN6 | NSG2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LRRTM1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ASIC4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| VNN2 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| RAB14 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN4A | C2CD4B | psi-mi:“MI:0914”(association) | 0.350 |
| KIR2DL4 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (80): TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS)
ESM2 similar proteins: O43657, O46101, O60635, O70352, O70401, O75508, P08962, P0C672, P19331, P19397, P27591, P27701, P28648, P34285, P40237, P41731, P41732, P91799, Q11098, Q22495, Q24188, Q26499, Q28709, Q2KIS9, Q32KU6, Q3MHK4, Q3T0S3, Q4R3L1, Q4R7W6, Q55CV4, Q55CV5, Q55CV7, Q55CW7, Q58DM3, Q5RAS5, Q5RC27, Q5REK8, Q5WRN1, Q60771, Q61451
Diamond homologs: A1L157, B0BM39, B5X3I6, O14817, O35566, O43657, O60636, O70401, O75954, P08962, P19397, P21926, P24485, P27701, P30409, P30932, P40239, P40240, P40241, P41731, P41732, P48509, P61170, P61171, Q06AA5, Q0VC33, Q28709, Q2KIS9, Q32KU6, Q3ZBH3, Q568Y5, Q58CY8, Q58DM3, Q5RAP3, Q5RAS5, Q61451, Q62283, Q6DCQ3, Q7YQK9, Q7YQL0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
965 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:100630864:CAG:C | acceptor_gain | 1.0000 |
| X:100630867:C:CC | acceptor_gain | 1.0000 |
| X:100632483:A:AC | donor_gain | 1.0000 |
| X:100632484:C:CC | donor_gain | 1.0000 |
| X:100633403:A:AC | donor_gain | 1.0000 |
| X:100633404:C:CC | donor_gain | 1.0000 |
| X:100633406:T:TA | donor_gain | 1.0000 |
| X:100633535:TGCAA:T | acceptor_gain | 1.0000 |
| X:100633540:C:CC | acceptor_gain | 1.0000 |
| X:100633926:CTTA:C | donor_loss | 1.0000 |
| X:100633927:TTA:T | donor_loss | 1.0000 |
| X:100633928:TACCG:T | donor_loss | 1.0000 |
| X:100633929:A:AC | donor_gain | 1.0000 |
| X:100633929:AC:A | donor_gain | 1.0000 |
| X:100633929:ACCG:A | donor_loss | 1.0000 |
| X:100633930:C:CT | donor_gain | 1.0000 |
| X:100633930:CC:C | donor_gain | 1.0000 |
| X:100633930:CCGT:C | donor_gain | 1.0000 |
| X:100633930:CCGTA:C | donor_gain | 1.0000 |
| X:100634025:TTAAT:T | acceptor_gain | 1.0000 |
| X:100634026:TAAT:T | acceptor_gain | 1.0000 |
| X:100634027:AAT:A | acceptor_gain | 1.0000 |
| X:100634028:AT:A | acceptor_gain | 1.0000 |
| X:100634028:ATC:A | acceptor_loss | 1.0000 |
| X:100634030:C:CC | acceptor_gain | 1.0000 |
| X:100634032:A:C | acceptor_gain | 1.0000 |
| X:100635172:GCTTA:G | donor_loss | 1.0000 |
| X:100635173:CTTA:C | donor_loss | 1.0000 |
| X:100635174:TTA:T | donor_loss | 1.0000 |
| X:100635175:TA:T | donor_loss | 1.0000 |
AlphaMissense
1611 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:100633504:C:A | W162C | 1.000 |
| X:100633504:C:G | W162C | 1.000 |
| X:100633527:C:A | G155C | 0.999 |
| X:100633506:A:G | W162R | 0.998 |
| X:100633506:A:T | W162R | 0.998 |
| X:100632563:A:C | C197W | 0.997 |
| X:100632564:C:G | C197S | 0.997 |
| X:100632565:A:T | C197S | 0.997 |
| X:100633529:C:G | C154S | 0.997 |
| X:100633530:A:T | C154S | 0.997 |
| X:100633531:A:C | C153W | 0.997 |
| X:100633532:C:G | C153S | 0.997 |
| X:100633533:A:G | C153R | 0.997 |
| X:100633533:A:T | C153S | 0.997 |
| X:100635632:C:G | G68R | 0.997 |
| X:100635719:C:G | G39R | 0.997 |
| X:100635740:C:G | G32R | 0.997 |
| X:100632564:C:T | C197Y | 0.996 |
| X:100632565:A:G | C197R | 0.996 |
| X:100633460:C:G | C177S | 0.996 |
| X:100633460:C:T | C177Y | 0.996 |
| X:100633461:A:T | C177S | 0.996 |
| X:100633526:C:A | G155V | 0.996 |
| X:100633529:C:T | C154Y | 0.996 |
| X:100633532:C:T | C153Y | 0.996 |
| X:100633938:T:G | Q148P | 0.996 |
| X:100635631:C:T | G68D | 0.996 |
| X:100635718:C:T | G39D | 0.996 |
| X:100635739:C:T | G32D | 0.996 |
| X:100630860:C:G | G226R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000035902 (X:100629330 C>T), RS1000083682 (X:100633561 T>C), RS1000201757 (X:100627962 C>A,T), RS1000602171 (X:100627169 C>A,T), RS1000909706 (X:100627638 G>T), RS1001169815 (X:100636279 G>A), RS1001403098 (X:100632675 T>A,C), RS1001755243 (X:100628734 T>A), RS1001974420 (X:100635037 T>C), RS1002043793 (X:100633103 G>A), RS1002065612 (X:100637415 A>G), RS1002555233 (X:100631932 A>G), RS1002642058 (X:100631305 G>C), RS1003162958 (X:100631491 TA>T,TAA), RS1003841651 (X:100634617 G>A,C)
Disease associations
OMIM: gene MIM:300191 | disease phenotypes: MIM:300088, MIM:300643
GenCC curated gene-disease
Mondo (2): developmental and epileptic encephalopathy, 9 (MONDO:0010246), rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked (MONDO:0010388)
Orphanet (2): Female restricted epilepsy with intellectual disability (Orphanet:101039), X-linked intellectual disability-epilepsy syndrome (Orphanet:2076)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564715 | Epilepsy, Female-Restricted, with Mental Retardation (supp.) | |
| C564467 | Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases methylation, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | affects response to substance | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Acetylcysteine | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Piroxicam | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 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): developmental and epileptic encephalopathy, 9, rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked