TMEM41B
gene geneOn this page
Also known as KIAA0033
Summary
TMEM41B (transmembrane protein 41B, HGNC:28948) is a protein-coding gene on chromosome 11p15.4, encoding Transmembrane protein 41B (Q5BJD5). Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes. It is a selective cancer dependency (DepMap: 22.4% of cell lines).
Enables phospholipid scramblase activity. Involved in autophagosome assembly and intracellular lipid transport. Located in mitochondria-associated endoplasmic reticulum membrane contact site. Is active in endoplasmic reticulum membrane.
Source: NCBI Gene 440026 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 50 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 22.4% of screened cell lines
- MANE Select transcript:
NM_015012
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28948 |
| Approved symbol | TMEM41B |
| Name | transmembrane protein 41B |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0033 |
| Ensembl gene | ENSG00000166471 |
| Ensembl biotype | protein_coding |
| OMIM | 620271 |
| Entrez | 440026 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000299596, ENST00000524543, ENST00000527813, ENST00000528080, ENST00000533723, ENST00000533867, ENST00000611268, ENST00000931712, ENST00000931713
RefSeq mRNA: 2 — MANE Select: NM_015012
NM_001165030, NM_015012
CCDS: CCDS31424, CCDS53600
Canonical transcript exons
ENST00000528080 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001123125 | 9288442 | 9288535 |
| ENSE00001123130 | 9295259 | 9295387 |
| ENSE00001123136 | 9299584 | 9299701 |
| ENSE00002176576 | 9280654 | 9283593 |
| ENSE00002201942 | 9314321 | 9314593 |
| ENSE00003564015 | 9286455 | 9286593 |
| ENSE00003575570 | 9287702 | 9287806 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 96.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.1103 / max 381.8517, expressed in 1826 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118567 | 35.0236 | 1825 |
| 118565 | 2.4234 | 1130 |
| 118564 | 0.7636 | 319 |
| 118566 | 0.5682 | 347 |
| 118568 | 0.3316 | 167 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 96.88 | gold quality |
| endothelial cell | CL:0000115 | 96.12 | gold quality |
| visceral pleura | UBERON:0002401 | 95.47 | gold quality |
| ileal mucosa | UBERON:0000331 | 95.07 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.00 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.00 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.74 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.71 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.60 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.40 | silver quality |
| adrenal tissue | UBERON:0018303 | 93.99 | gold quality |
| upper leg skin | UBERON:0004262 | 93.51 | gold quality |
| tibia | UBERON:0000979 | 93.48 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.40 | gold quality |
| nephron tubule | UBERON:0001231 | 93.00 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.96 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.82 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.72 | gold quality |
| pleura | UBERON:0000977 | 92.69 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.45 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.07 | gold quality |
| lower lobe of lung | UBERON:0008949 | 91.58 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.50 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.47 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.45 | gold quality |
| renal glomerulus | UBERON:0000074 | 91.19 | gold quality |
| duodenum | UBERON:0002114 | 91.17 | gold quality |
| parietal pleura | UBERON:0002400 | 91.16 | gold quality |
| gingiva | UBERON:0001828 | 91.15 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 21.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting TMEM41B, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-101-5P | 96.84 | 65.66 | 649 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 22.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- These results suggest that TMEM41B and VMP1 function together at an early step of autophagosome formation. (PMID:30093494)
- TMEM41B is a novel ER-localized regulator of autophagosome biogenesis and lipid mobilization. (PMID:30126924)
- TMEM41B is an integral endoplasmic reticulum (ER) membrane protein distantly related to the established autophagy factor vacuole membrane protein 1 (VMP1), and the data show that these two factors play related, albeit not fully overlapping, roles in autophagosome biogenesis. (PMID:30933966)
- TMEM41B Is a Pan-flavivirus Host Factor. (PMID:33338421)
- TMEM41B is a host factor required for the replication of diverse coronaviruses including SARS-CoV-2. (PMID:34043740)
- VMP1 and TMEM41B are essential for DMV formation during beta-coronavirus infection. (PMID:35536318)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem41b | ENSDARG00000080006 |
| mus_musculus | Tmem41b | ENSMUSG00000047554 |
| rattus_norvegicus | Tmem41b | ENSRNOG00000010752 |
| drosophila_melanogaster | stas | FBGN0030850 |
| caenorhabditis_elegans | WBGENE00006520 |
Paralogs (2): TMEM41A (ENSG00000163900), TMEM64 (ENSG00000180694)
Protein
Protein identifiers
Transmembrane protein 41B — Q5BJD5 (reviewed: Q5BJD5)
Alternative names: Protein stasimon
All UniProt accessions (2): E9PJ42, Q5BJD5
UniProt curated annotations — full annotation on UniProt →
Function. Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes. Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidylethanolamine and phosphatidylcholine. Required for autophagosome formation: participates in early stages of autophagosome biogenesis at the endoplasmic reticulum (ER) membrane by reequilibrating the leaflets of the ER as lipids are extracted by ATG2 (ATG2A or ATG2B) to mediate autophagosome assembly. In addition to autophagy, involved in other processes in which phospholipid scramblase activity is required. Required for normal motor neuron development. (Microbial infection) Critical host factor required for infection by human coronaviruses SARS-CoV-2, HCoV-OC43, HCoV-NL63, and HCoV-229E, as well as all flaviviruses tested such as Zika virus and Yellow fever virus. Required post-entry of the virus to facilitate the ER membrane remodeling necessary to form replication organelles.
Subunit / interactions. Interacts with VMP1. Interacts with COPA, COPB1, VDAC1 and ERLIN2. Interacts with ATG2A. Interacts with SURF4. (Microbial infection) Interacts with Zika virus NS4A protein and Yellow fever virus NS4B protein.
Subcellular location. Endoplasmic reticulum membrane. Endomembrane system Cytoplasm.
Domain organisation. The VTT domain was previously called the SNARE-assoc domain. As there is no evidence that this domain associates with SNARE proteins, it was renamed as VMP1, TMEM41, and TVP38 (VTT) domain. (Microbial infection) VTT domain is required for flavivirus infection.
Similarity. Belongs to the TMEM41 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5BJD5-1 | 1 | yes |
| Q5BJD5-2 | 2 | |
| Q5BJD5-3 | 3 |
RefSeq proteins (2): NP_001158502, NP_055827* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR032816 | VTT_dom | Domain |
| IPR045014 | TM41A/B | Family |
Pfam: PF09335
Catalyzed reactions (Rhea), 4 shown:
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) (RHEA:38895)
- cholesterol(in) = cholesterol(out) (RHEA:39747)
UniProt features (17 total): transmembrane region 6, splice variant 4, modified residue 2, sequence variant 2, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5BJD5-F1 | 82.76 | 0.48 |
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 (2): 35, 18
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 206 (showing top):
FARMER_BREAST_CANCER_CLUSTER_7, GOBP_VACUOLE_ORGANIZATION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_MACROAUTOPHAGY, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_VIRAL_GENOME_REPLICATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_ORGANELLE_ASSEMBLY, GOBP_VIRAL_LIFE_CYCLE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, HOEBEKE_LYMPHOID_STEM_CELL_UP
GO Biological Process (7): autophagosome assembly (GO:0000045), nervous system development (GO:0007399), intracellular lipid transport (GO:0032365), host-mediated perturbation of viral RNA genome replication (GO:0044830), lipid transport (GO:0006869), autophagy (GO:0006914), plasma membrane phospholipid scrambling (GO:0017121)
GO Molecular Function (2): phospholipid scramblase activity (GO:0017128), protein binding (GO:0005515)
GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), mitochondria-associated endoplasmic reticulum membrane contact site (GO:0044233), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| system development | 1 |
| lipid transport | 1 |
| intracellular transport | 1 |
| viral RNA genome replication | 1 |
| host-mediated perturbation of viral process | 1 |
| transport | 1 |
| lipid localization | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| plasma membrane organization | 1 |
| phospholipid translocation | 1 |
| plasma membrane phospholipid scrambling | 1 |
| intramembrane lipid carrier activity | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| organelle membrane contact site | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1340 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM41B | VMP1 | Q96GC9 | 817 |
| TMEM41B | ACTMAP | Q5BKX5 | 592 |
| TMEM41B | ATG2A | Q2TAZ0 | 539 |
| TMEM41B | CHODL | Q9H9P2 | 523 |
| TMEM41B | SMN1 | Q16637 | 518 |
| TMEM41B | TMEM106B | Q9NUM4 | 506 |
| TMEM41B | LYSET | Q8N6I4 | 474 |
| TMEM41B | HNRNPR | O43390 | 455 |
| TMEM41B | MINAR1 | Q9UPX6 | 439 |
| TMEM41B | PLS3 | P13797 | 431 |
| TMEM41B | RUSC2 | Q8N2Y8 | 426 |
| TMEM41B | EPG5 | Q9HCE0 | 423 |
| TMEM41B | STRAP | Q9Y3F4 | 421 |
| TMEM41B | ANKLE2 | Q86XL3 | 402 |
| TMEM41B | ATG2B | Q96BY7 | 402 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT70B | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| ASPH | STXBP3 | psi-mi:“MI:0914”(association) | 0.640 |
| TMEM184A | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM41B | psi-mi:“MI:0915”(physical association) | 0.500 | |
| RBFOX2 | psi-mi:“MI:0914”(association) | 0.500 | |
| TMEM41B | APOB | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPP2CB | DKFZP586J0619 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPO | psi-mi:“MI:0914”(association) | 0.350 | |
| STYK1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD4A | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A1 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SPPL2B | HAS3 | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR1 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| FPR2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM72 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A8 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD11 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ACKR3 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| APLNR | TTI1 | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | MAP2K7 | psi-mi:“MI:0914”(association) | 0.350 |
| RAMP3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN3B | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SPPL2B | POC1B-GALNT4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35C2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A15 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (191): TMEM41B (Affinity Capture-MS), DPYS (Affinity Capture-MS), APOB (Affinity Capture-MS), TMEM41B (Proximity Label-MS), TMEM41B (Affinity Capture-MS), APOB (Affinity Capture-MS), TMEM41B (Affinity Capture-MS), TMEM41B (Affinity Capture-MS), TMEM41B (Affinity Capture-MS), TMEM41B (Affinity Capture-MS), LRPPRC (Affinity Capture-MS), TRAP1 (Affinity Capture-MS), IPO8 (Affinity Capture-MS), IPO7 (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2KQY6, A1A5V7, A4II98, A8I499, A8NX72, B3TP03, B5D5N9, F4I8Q7, G5ECB2, O01840, O62126, O64759, P18581, P30823, P30825, P52569, P91679, P92942, Q10046, Q10320, Q17320, Q25479, Q2UVJ5, Q41745, Q42093, Q4QQU5, Q502G2, Q5BJD5, Q5FVN2, Q5N808, Q5PR34, Q5RBZ8, Q5REV9, Q5RFF0, Q5U4K5, Q5ZIL6, Q6IWY1, Q6NV38, Q6ZQN7, Q759P7
Diamond homologs: A1A5V7, A4II98, O62126, Q08D99, Q502G2, Q5BJD5, Q5FVN2, Q5RBZ8, Q5U4K5, Q5ZIL6, Q6NV38, Q8K1A5, Q8L586, Q8MXN7, Q96HV5, Q9D8U2, Q9VX39
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 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 |
|---|---|---|---|
| SLC-mediated transmembrane transport | 6 | 9.3× | 7e-03 |
| Transport of small molecules | 8 | 5.3× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
984 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:9285634:T:TA | donor_gain | 1.0000 |
| 11:9287807:C:CC | acceptor_gain | 1.0000 |
| 11:9295289:A:AC | donor_gain | 1.0000 |
| 11:9295290:C:CC | donor_gain | 1.0000 |
| 11:9295292:TGA:T | donor_gain | 1.0000 |
| 11:9295307:T:TA | donor_gain | 1.0000 |
| 11:9314317:TCA:T | donor_loss | 1.0000 |
| 11:9314318:CAC:C | donor_loss | 1.0000 |
| 11:9314319:AC:A | donor_gain | 1.0000 |
| 11:9314320:CC:C | donor_gain | 1.0000 |
| 11:9314320:CCCTT:C | donor_gain | 1.0000 |
| 11:9283431:A:C | donor_gain | 0.9900 |
| 11:9283591:CAC:C | acceptor_gain | 0.9900 |
| 11:9285631:ATTT:A | donor_gain | 0.9900 |
| 11:9287697:TTTAC:T | donor_loss | 0.9900 |
| 11:9287698:TTA:T | donor_loss | 0.9900 |
| 11:9287699:TA:T | donor_loss | 0.9900 |
| 11:9287700:A:G | donor_loss | 0.9900 |
| 11:9287701:CCT:C | donor_loss | 0.9900 |
| 11:9287701:CCTG:C | donor_gain | 0.9900 |
| 11:9287702:C:A | donor_loss | 0.9900 |
| 11:9287802:GAACA:G | acceptor_gain | 0.9900 |
| 11:9287805:CA:C | acceptor_gain | 0.9900 |
| 11:9295281:C:CT | donor_gain | 0.9900 |
| 11:9295282:T:TT | donor_gain | 0.9900 |
| 11:9295330:T:A | donor_gain | 0.9900 |
| 11:9295334:AGAG:A | donor_gain | 0.9900 |
| 11:9295386:CT:C | acceptor_gain | 0.9900 |
| 11:9299582:A:AC | donor_gain | 0.9900 |
| 11:9299583:C:CC | donor_gain | 0.9900 |
AlphaMissense
1880 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:9283482:G:T | A273D | 1.000 |
| 11:9283557:C:T | G248E | 1.000 |
| 11:9283558:C:G | G248R | 1.000 |
| 11:9283558:C:T | G248R | 1.000 |
| 11:9283593:C:T | G236D | 1.000 |
| 11:9286455:C:G | G236R | 1.000 |
| 11:9286466:C:T | G232D | 1.000 |
| 11:9286467:C:G | G232R | 1.000 |
| 11:9286513:A:C | N216K | 1.000 |
| 11:9286513:A:T | N216K | 1.000 |
| 11:9286524:A:G | W213R | 1.000 |
| 11:9286524:A:T | W213R | 1.000 |
| 11:9286525:A:C | N212K | 1.000 |
| 11:9286525:A:T | N212K | 1.000 |
| 11:9286529:G:T | P211H | 1.000 |
| 11:9286547:C:A | R205I | 1.000 |
| 11:9286547:C:G | R205T | 1.000 |
| 11:9287780:A:C | C163W | 1.000 |
| 11:9287781:C:T | C163Y | 1.000 |
| 11:9287793:C:A | G159V | 1.000 |
| 11:9287793:C:T | G159D | 1.000 |
| 11:9287794:C:A | G159C | 1.000 |
| 11:9287794:C:G | G159R | 1.000 |
| 11:9288447:A:G | C153R | 1.000 |
| 11:9288485:C:T | G140E | 1.000 |
| 11:9288486:C:A | G140W | 1.000 |
| 11:9288496:A:C | S136R | 1.000 |
| 11:9288496:A:T | S136R | 1.000 |
| 11:9288498:T:G | S136R | 1.000 |
| 11:9288518:A:T | I129N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000018050 (11:9297523 C>G), RS1000066226 (11:9292663 G>A), RS1000075938 (11:9304239 G>C), RS1000149059 (11:9303915 A>G), RS1000209680 (11:9316206 C>A), RS1000235406 (11:9298363 G>A), RS1000370490 (11:9309649 G>A), RS1000421042 (11:9314798 C>A,G,T), RS1000501200 (11:9286867 G>A), RS1000548408 (11:9314891 C>T), RS1000578188 (11:9314741 C>A,G,T), RS1000764729 (11:9308901 G>A,C), RS1000887619 (11:9281053 A>G), RS1000888347 (11:9309377 C>G,T), RS1000898033 (11:9287544 C>G)
Disease associations
OMIM: gene MIM:620271 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005024_102 | Pursuit maintenance gain | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008433 | pursuit maintenance gain measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067187 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.70 | Kd | 2009 | nM | CHEMBL5653589 |
| 5.70 | ED50 | 2009 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149614: Binding affinity to human TMEM41B incubated for 45 mins by Kinobead based pull down assay | kd | 2.0095 | uM |
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | decreases methylation, affects expression, affects cotreatment, increases methylation | 2 |
| Quercetin | decreases expression, decreases phosphorylation | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Acetylcysteine | affects cotreatment, decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Chloroquine | affects cotreatment, decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Nicotine | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652656 | Binding | Binding affinity to human TMEM41B incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.