TMEM201
gene geneOn this page
Also known as RP13-15M17.2NET5Ima1SAMP1
Summary
TMEM201 (transmembrane protein 201, HGNC:33719) is a protein-coding gene on chromosome 1p36.22, encoding Transmembrane protein 201 (Q5SNT2). Critical regulator of angiogenesis and endothelial cell (EC) migration.
Predicted to enable actin filament binding activity and lamin binding activity. Involved in several processes, including centrosome localization; positive regulation of endothelial cell migration; and protein localization to nuclear envelope. Located in cortical endoplasmic reticulum; nuclear inner membrane; and spindle pole centrosome.
Source: NCBI Gene 199953 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 121 total
- MANE Select transcript:
NM_001130924
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33719 |
| Approved symbol | TMEM201 |
| Name | transmembrane protein 201 |
| Location | 1p36.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RP13-15M17.2, NET5, Ima1, SAMP1 |
| Ensembl gene | ENSG00000188807 |
| Ensembl biotype | protein_coding |
| Entrez | 199953 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000340305, ENST00000340381, ENST00000416541, ENST00000508400, ENST00000510900, ENST00000857597, ENST00000928149, ENST00000928150
RefSeq mRNA: 2 — MANE Select: NM_001130924
NM_001010866, NM_001130924
CCDS: CCDS30579, CCDS44055
Canonical transcript exons
ENST00000340381 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001365697 | 9601105 | 9601454 |
| ENSE00001375118 | 9607557 | 9607789 |
| ENSE00001378492 | 9610506 | 9610805 |
| ENSE00001378607 | 9598449 | 9598625 |
| ENSE00001385916 | 9602069 | 9602272 |
| ENSE00001388240 | 9596859 | 9597053 |
| ENSE00001473754 | 9609840 | 9609911 |
| ENSE00001680944 | 9595890 | 9596010 |
| ENSE00001854997 | 9612986 | 9614877 |
| ENSE00003502159 | 9611753 | 9611890 |
| ENSE00003847294 | 9588911 | 9589043 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 95.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9933 / max 100.8374, expressed in 1684 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 524 | 5.8849 | 1484 |
| 522 | 2.5597 | 1103 |
| 521 | 2.2924 | 1025 |
| 523 | 0.2379 | 109 |
| 525 | 0.0184 | 5 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 95.97 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 95.73 | silver quality |
| quadriceps femoris | UBERON:0001377 | 92.58 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.24 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.85 | silver quality |
| gastrocnemius | UBERON:0001388 | 91.09 | gold quality |
| deltoid | UBERON:0001476 | 90.31 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 90.27 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.19 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.19 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.05 | gold quality |
| myocardium | UBERON:0002349 | 89.71 | silver quality |
| muscle of leg | UBERON:0001383 | 89.70 | gold quality |
| body of tongue | UBERON:0011876 | 89.58 | gold quality |
| biceps brachii | UBERON:0001507 | 89.49 | gold quality |
| muscle tissue | UBERON:0002385 | 89.08 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.10 | silver quality |
| secondary oocyte | CL:0000655 | 88.04 | gold quality |
| oocyte | CL:0000023 | 87.85 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 87.65 | gold quality |
| tongue | UBERON:0001723 | 87.13 | silver quality |
| cerebellar vermis | UBERON:0004720 | 86.86 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 86.47 | silver quality |
| ventral tegmental area | UBERON:0002691 | 86.46 | silver quality |
| apex of heart | UBERON:0002098 | 86.40 | gold quality |
| vena cava | UBERON:0004087 | 85.48 | silver quality |
| buccal mucosa cell | CL:0002336 | 85.43 | silver quality |
| inferior vagus X ganglion | UBERON:0005363 | 85.38 | silver quality |
| heart right ventricle | UBERON:0002080 | 85.21 | gold quality |
| superior surface of tongue | UBERON:0007371 | 84.95 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 93.59 |
| E-ANND-3 | no | 1.91 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting TMEM201, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
Literature-anchored findings (GeneRIF, showing 8)
- characterization of a transmembrane protein of the nuclear envelope that we name spindle-associated membrane protein 1 (Samp1); Samp1 defines a specific membrane domain associated with the mitotic spindle (PMID:19494128)
- the nucleoplasmic domains of Samp1 and Emerin can bind directly to each other. (PMID:24950247)
- Samp1 is involved in early differentiation of induced pluripotent stem cells. (PMID:28668644)
- the mobility of YFP-Emerin was higher in Samp1 knock out cells and lower in cells overexpressing Samp1, suggesting that Samp1 significantly attenuates the mobility of Emerin in the nuclear envelope. The affinity between Samp1 and Emerin is decreased in the presence of Ran, suggesting that Ran attenuates the interaction between Samp1 and Emerin. (PMID:29510091)
- Authors show that Samp1 is involved in the recruitment of HAUS6 and gamma-tubulin to the mitotic spindle. Samp1 is the first inner nuclear membrane protein shown to have a function in mitotic spindle assembly. (PMID:29514856)
- We also found that peripheral heterochromatin depended on the levels of the inner nuclear membrane protein Samp1, suggesting an important role in promoting peripheral heterochromatin. Taken together, FRIC is a powerful and robust new tool to study dynamic chromatin redistribution in live cells. (PMID:30793190)
- Inner nuclear membrane protein TMEM201 maintains endothelial cell migration and angiogenesis by interacting with the LINC complex. (PMID:35311970)
- Characterization of the Clinical Significance and Immunological Landscapes of a Novel TMEMs Signature in Hepatocellular Carcinoma and the Contribution of TMEM201 to Hepatocarcinogenesis. (PMID:37373430)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tmem201 | ENSMUSG00000044700 |
| rattus_norvegicus | Tmem201 | ENSRNOG00000023152 |
Protein
Protein identifiers
Transmembrane protein 201 — Q5SNT2 (reviewed: Q5SNT2)
Alternative names: Spindle-associated membrane protein 1
All UniProt accessions (3): Q5SNT2, H0Y4R5, H0Y994
UniProt curated annotations — full annotation on UniProt →
Function. Critical regulator of angiogenesis and endothelial cell (EC) migration. Promotes the migration of endothelial cells, which is essential for angiogenesis. Interacts with the linker of nucleoskeleton and cytoskeleton (LINC) complex, which plays a vital role in connecting the cell’s cytoskeleton to the nuclear envelope. This interaction is essential for maintaining cellular structure and facilitating the movement of endothelial cells, which is critical for proper vascular development. Involved in nuclear movement during fibroblast polarization and migration. Overexpression can recruit Ran GTPase to the nuclear periphery. May define a distinct membrane domain in the vicinity of the mitotic spindle. Involved in the organization of the nuclear envelope implicating EMD, SUN1 and A-type lamina.
Subunit / interactions. Interacts with SUN2 and LMNA. May bind to Ran GTPase; has a greater affinity for Ran-GTP over Ran-GDP. Interacts with EMD.
Subcellular location. Nucleus inner membrane Nucleus inner membrane. Cytoplasm. Cytoskeleton. Spindle pole.
Similarity. Belongs to the TMEM201 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5SNT2-1 | 1 | yes |
| Q5SNT2-2 | 2, SAMP1 |
RefSeq proteins (2): NP_001010866, NP_001124396* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018617 | Ima1_N | Domain |
| IPR018861 | TMEM201_C | Domain |
| IPR040041 | TMEM201 | Family |
Pfam: PF09779, PF10476
UniProt features (27 total): modified residue 9, topological domain 6, transmembrane region 5, splice variant 2, mutagenesis site 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5SNT2-F1 | 59.86 | 0.22 |
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 (9): 1, 441, 444, 450, 454, 466, 477, 480, 529
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 48 | impairs organization of the nuclear envelope; abolishes its localization to the nuclear envelope; impairs localization o |
| 121 | abolishes localization to the nuclear envelopee; abolishes its localization to the nuclear envelope; impairs localizatio |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, GOBP_NUCLEUS_ORGANIZATION, GOCC_CENTROSOME, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_NUCLEUS_LOCALIZATION, LIAO_METASTASIS, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_ACTIN_BINDING, GOBP_NUCLEAR_ENVELOPE_ORGANIZATION
GO Biological Process (8): angiogenesis (GO:0001525), nuclear envelope organization (GO:0006998), positive regulation of endothelial cell migration (GO:0010595), fibroblast migration (GO:0010761), nuclear migration along microtubule (GO:0030473), centrosome localization (GO:0051642), protein localization to nuclear envelope (GO:0090435), nuclear migration (GO:0007097)
GO Molecular Function (3): lamin binding (GO:0005521), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (10): spindle pole (GO:0000922), nuclear envelope (GO:0005635), nuclear inner membrane (GO:0005637), nuclear membrane (GO:0031965), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), spindle pole centrosome (GO:0031616), cortical endoplasmic reticulum (GO:0032541)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nucleus | 2 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| nucleus organization | 1 |
| endomembrane system organization | 1 |
| membrane organization | 1 |
| regulation of endothelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| ameboidal-type cell migration | 1 |
| nuclear migration | 1 |
| organelle transport along microtubule | 1 |
| microtubule organizing center localization | 1 |
| protein localization to nucleus | 1 |
| intracellular transport | 1 |
| nucleus localization | 1 |
| establishment of organelle localization | 1 |
| protein binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| spindle | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| organelle inner membrane | 1 |
| nuclear membrane | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| spindle pole | 1 |
| centrosome | 1 |
| cell cortex | 1 |
| endoplasmic reticulum tubular network | 1 |
Protein interactions and networks
STRING
744 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM201 | SUN1 | O94901 | 950 |
| TMEM201 | EMD | P50402 | 816 |
| TMEM201 | SUN2 | Q9UH99 | 808 |
| TMEM201 | LMNB1 | P20700 | 723 |
| TMEM201 | BANF1 | O75531 | 640 |
| TMEM201 | FHOD1 | Q9Y613 | 634 |
| TMEM201 | LEMD3 | Q9Y2U8 | 578 |
| TMEM201 | TOR1A | O14656 | 563 |
| TMEM201 | PLPP7 | Q8NBV4 | 525 |
| TMEM201 | TMEM38A | Q9H6F2 | 517 |
| TMEM201 | TMEM214 | Q6NUQ4 | 480 |
| TMEM201 | SUN3 | Q8TAQ9 | 450 |
| TMEM201 | MADCAM1 | Q13477 | 446 |
| TMEM201 | SYNE2 | Q8WXH0 | 436 |
| TMEM201 | LEMD2 | Q8NC56 | 434 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | FANCA | psi-mi:“MI:0914”(association) | 0.530 |
| APBA3 | CLSTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| Tax | TAX1BP3 | psi-mi:“MI:0914”(association) | 0.520 |
| ALK | PIK3R2 | psi-mi:“MI:0914”(association) | 0.420 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rab5b | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| SYNPO | LMO7 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| UBAC2 | TUB4q | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NUAK1 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| STYK1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CRELD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TEX28 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GP9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNA1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGH | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB7 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (183): TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Proximity Label-MS), TMEM201 (Proximity Label-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Reconstituted Complex), TMEM201 (Two-hybrid), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), TMEM201 (Affinity Capture-MS)
ESM2 similar proteins: A0PJX4, A2A8U2, A4D2P6, A6QM06, D4A6L0, E1BBQ2, O15079, O60320, P12755, P49797, P97260, Q0D2I5, Q12770, Q15884, Q1RMB5, Q3TS39, Q3UPR0, Q4FZH1, Q5MNU5, Q5SNT2, Q5T848, Q5XKK7, Q60698, Q6A044, Q7T0Z7, Q7TMB0, Q7TPB0, Q810F0, Q86XR5, Q8BX43, Q8BXL9, Q8C419, Q8CA71, Q8K064, Q8K2Y3, Q8N114, Q8NDY8, Q8WV15, Q91WM6, Q92537
Diamond homologs: A2A8U2, A4IG66, Q22747, Q32PF0, Q5SNT2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 125 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Metal ion SLC transporters | 5 | 37.1× | 7e-05 |
| Downstream TCR signaling | 6 | 9.5× | 4e-03 |
| Transport of small molecules | 12 | 3.7× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular zinc ion homeostasis | 5 | 22.3× | 6e-04 |
| potassium ion transmembrane transport | 6 | 7.5× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 7 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2064 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:9589040:GGAG:G | donor_gain | 1.0000 |
| 1:9589041:GAG:G | donor_gain | 1.0000 |
| 1:9589041:GAGG:G | donor_gain | 1.0000 |
| 1:9589042:AGGT:A | donor_loss | 1.0000 |
| 1:9589044:GT:G | donor_loss | 1.0000 |
| 1:9589045:T:G | donor_loss | 1.0000 |
| 1:9595885:CACA:C | acceptor_loss | 1.0000 |
| 1:9595888:A:AG | acceptor_gain | 1.0000 |
| 1:9595888:A:G | acceptor_loss | 1.0000 |
| 1:9595888:AG:A | acceptor_gain | 1.0000 |
| 1:9595888:AGGAT:A | acceptor_gain | 1.0000 |
| 1:9595889:G:GA | acceptor_gain | 1.0000 |
| 1:9595889:GG:G | acceptor_gain | 1.0000 |
| 1:9595889:GGAT:G | acceptor_gain | 1.0000 |
| 1:9595889:GGATG:G | acceptor_gain | 1.0000 |
| 1:9595991:A:AG | donor_gain | 1.0000 |
| 1:9595992:G:GG | donor_gain | 1.0000 |
| 1:9596007:GGAG:G | donor_gain | 1.0000 |
| 1:9596007:GGAGG:G | donor_loss | 1.0000 |
| 1:9596008:G:GT | donor_gain | 1.0000 |
| 1:9596008:GAGG:G | donor_loss | 1.0000 |
| 1:9596009:AG:A | donor_loss | 1.0000 |
| 1:9596857:AGAAC:A | acceptor_gain | 1.0000 |
| 1:9596858:GAAC:G | acceptor_gain | 1.0000 |
| 1:9596858:GAACG:G | acceptor_gain | 1.0000 |
| 1:9597050:GGAG:G | donor_gain | 1.0000 |
| 1:9597051:G:GT | donor_gain | 1.0000 |
| 1:9597051:GAGG:G | donor_loss | 1.0000 |
| 1:9597052:AGG:A | donor_loss | 1.0000 |
| 1:9597053:GGTG:G | donor_loss | 1.0000 |
AlphaMissense
4254 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:9595918:T:C | C48R | 1.000 |
| 1:9595919:G:A | C48Y | 1.000 |
| 1:9595920:C:G | C48W | 1.000 |
| 1:9595924:T:C | F50L | 1.000 |
| 1:9595926:C:A | F50L | 1.000 |
| 1:9595926:C:G | F50L | 1.000 |
| 1:9595969:T:A | W65R | 1.000 |
| 1:9595969:T:C | W65R | 1.000 |
| 1:9595971:G:C | W65C | 1.000 |
| 1:9595971:G:T | W65C | 1.000 |
| 1:9595975:T:C | C67R | 1.000 |
| 1:9596002:T:C | F76L | 1.000 |
| 1:9596003:T:C | F76S | 1.000 |
| 1:9596004:C:A | F76L | 1.000 |
| 1:9596004:C:G | F76L | 1.000 |
| 1:9595918:T:A | C48S | 0.999 |
| 1:9595919:G:C | C48S | 0.999 |
| 1:9595919:G:T | C48F | 0.999 |
| 1:9595921:T:A | W49R | 0.999 |
| 1:9595921:T:C | W49R | 0.999 |
| 1:9595923:G:C | W49C | 0.999 |
| 1:9595923:G:T | W49C | 0.999 |
| 1:9595925:T:C | F50S | 0.999 |
| 1:9595925:T:G | F50C | 0.999 |
| 1:9595927:T:A | C51S | 0.999 |
| 1:9595927:T:C | C51R | 0.999 |
| 1:9595928:G:A | C51Y | 0.999 |
| 1:9595928:G:C | C51S | 0.999 |
| 1:9595928:G:T | C51F | 0.999 |
| 1:9595929:C:G | C51W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000135174 (1:9606119 G>A), RS1000199329 (1:9605107 G>A), RS1000203256 (1:9612361 C>A), RS1000252564 (1:9612756 C>T), RS1000313837 (1:9587806 C>T), RS1000393766 (1:9607147 G>A), RS1000608211 (1:9591932 G>A), RS1000682237 (1:9597309 G>A), RS1000687587 (1:9596778 G>A,C,T), RS1000768264 (1:9592688 C>A,T), RS1000841998 (1:9592857 G>A), RS1000870568 (1:9607356 C>T), RS1000943834 (1:9612587 G>T), RS1001114440 (1:9597533 G>C), RS1001241281 (1:9604518 C>G,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
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)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 4 |
| Acetaminophen | increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Estradiol | increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| afuresertib | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| chromium hexavalent ion | increases abundance, decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| Sunitinib | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.