VPS26B
gene geneOn this page
Also known as MGC10485Pep8b
Summary
VPS26B (VPS26 retromer complex component B, HGNC:28119) is a protein-coding gene on chromosome 11q25, encoding Vacuolar protein sorting-associated protein 26B (Q4G0F5). Acts as a component of the retromer cargo-selective complex (CSC).
Predicted to be involved in intracellular protein transport and retrograde transport, endosome to Golgi. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in early endosome and late endosome. Predicted to be part of retromer complex. Predicted to be active in glutamatergic synapse; postsynaptic early endosome; and postsynaptic recycling endosome.
Source: NCBI Gene 112936 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 31 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_052875
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28119 |
| Approved symbol | VPS26B |
| Name | VPS26 retromer complex component B |
| Location | 11q25 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC10485, Pep8b |
| Ensembl gene | ENSG00000151502 |
| Ensembl biotype | protein_coding |
| OMIM | 610027 |
| Entrez | 112936 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000281187, ENST00000525095, ENST00000525918, ENST00000527586, ENST00000530402, ENST00000531741, ENST00000532160, ENST00000860204, ENST00000860205, ENST00000911842, ENST00000911843, ENST00000957932
RefSeq mRNA: 1 — MANE Select: NM_052875
NM_052875
CCDS: CCDS8495
Canonical transcript exons
ENST00000281187 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001000001 | 134244938 | 134245080 |
| ENSE00001099786 | 134234897 | 134235053 |
| ENSE00001194641 | 134224671 | 134225345 |
| ENSE00001279598 | 134245444 | 134247788 |
| ENSE00003570973 | 134239991 | 134240155 |
| ENSE00003584878 | 134243119 | 134243294 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 96.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.3895 / max 126.8866, expressed in 1816 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117699 | 29.0096 | 1816 |
| 117700 | 0.3799 | 168 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 96.44 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.91 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.69 | gold quality |
| upper arm skin | UBERON:0004263 | 95.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.62 | gold quality |
| embryo | UBERON:0000922 | 95.02 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.02 | gold quality |
| cerebellum | UBERON:0002037 | 94.87 | gold quality |
| granulocyte | CL:0000094 | 94.78 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.64 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.60 | gold quality |
| skin of leg | UBERON:0001511 | 93.94 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.84 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.74 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.69 | gold quality |
| right uterine tube | UBERON:0001302 | 93.64 | gold quality |
| body of pancreas | UBERON:0001150 | 93.31 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.06 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.94 | gold quality |
| frontal cortex | UBERON:0001870 | 92.89 | gold quality |
| body of uterus | UBERON:0009853 | 92.87 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.82 | gold quality |
| neocortex | UBERON:0001950 | 92.73 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.47 | gold quality |
| zone of skin | UBERON:0000014 | 92.23 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.22 | gold quality |
| left ovary | UBERON:0002119 | 92.18 | gold quality |
| putamen | UBERON:0001874 | 92.12 | gold quality |
| pancreas | UBERON:0001264 | 92.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
125 targeting VPS26B, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
Literature-anchored findings (GeneRIF, showing 2)
- Colocalization of Vps26 paralogues with different endosomally located Rab proteins shows prolonged association of Vps26B-retromer with maturing endosomes relative to Vps26A-retromer. (PMID:21920005)
- Authors propose that PAR-2 plasma membrane repopulation is regulated by Vps26B-retromer, describing a potential novel role for this complex. (PMID:26113136)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | vps26b | ENSDARG00000015823 |
| danio_rerio | vps26bl | ENSDARG00000055433 |
| mus_musculus | Vps26b | ENSMUSG00000031988 |
| rattus_norvegicus | Vps26b | ENSRNOG00000047235 |
| drosophila_melanogaster | Vps26 | FBGN0014411 |
| caenorhabditis_elegans | WBGENE00006931 |
Paralogs (2): VPS26A (ENSG00000122958), VPS26C (ENSG00000157538)
Protein
Protein identifiers
Vacuolar protein sorting-associated protein 26B — Q4G0F5 (reviewed: Q4G0F5)
Alternative names: Vesicle protein sorting 26B
All UniProt accessions (3): Q4G0F5, A0A0D9SFQ6, H0YCI7
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1.
Subunit / interactions. Component of the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting VPS subcomplex (VPS,) formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35. The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform. The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex. Interacts with VPS29, VPS35, TBC1D5, GOLPH3, SNX27.
Subcellular location. Cytoplasm. Membrane. Early endosome. Late endosome.
Similarity. Belongs to the VPS26 family.
RefSeq proteins (1): NP_443107* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR014752 | Arrestin-like_C_sf | Homologous_superfamily |
| IPR028934 | Vps26-related | Family |
Pfam: PF03643
UniProt features (5 total): modified residue 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4G0F5-F1 | 87.11 | 0.76 |
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 (3): 302, 304, 319
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 219 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_REGULATION_OF_AUTOPHAGY, GCM_GSPT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, AP2_Q3, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_MACROAUTOPHAGY, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION
GO Biological Process (6): intracellular protein transport (GO:0006886), regulation of macroautophagy (GO:0016241), retrograde transport, endosome to Golgi (GO:0042147), cellular response to type II interferon (GO:0071346), regulation of neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0098696), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (12): endosome (GO:0005768), early endosome (GO:0005769), late endosome (GO:0005770), cytosol (GO:0005829), retromer complex (GO:0030904), retromer, cargo-selective complex (GO:0030906), phagocytic vesicle (GO:0045335), postsynaptic recycling endosome (GO:0098837), postsynaptic early endosome (GO:0098842), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular protein localization | 2 |
| endomembrane system | 2 |
| endosome | 2 |
| membrane protein complex | 2 |
| postsynapse | 2 |
| postsynaptic endosome | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| regulation of autophagy | 1 |
| macroautophagy | 1 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| response to type II interferon | 1 |
| cellular response to cytokine stimulus | 1 |
| regulation of biological quality | 1 |
| neurotransmitter receptor localization to postsynaptic specialization membrane | 1 |
| regulation of protein localization to synapse | 1 |
| regulation of receptor localization to synapse | 1 |
| regulation of protein localization to cell periphery | 1 |
| regulation of protein localization to membrane | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| binding | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| retromer complex | 1 |
| endocytic vesicle | 1 |
| recycling endosome | 1 |
| early endosome | 1 |
| synapse | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1184 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VPS26B | VPS35 | Q96QK1 | 999 |
| VPS26B | VPS29 | Q9UBQ0 | 997 |
| VPS26B | SNX27 | Q96L92 | 913 |
| VPS26B | SNX1 | Q13596 | 892 |
| VPS26B | SNX2 | P82862 | 854 |
| VPS26B | SNX3 | O60493 | 788 |
| VPS26B | SNX5 | Q9Y5X3 | 731 |
| VPS26B | TBC1D5 | Q92609 | 702 |
| VPS26B | SNX6 | Q9UNH7 | 678 |
| VPS26B | SNX32 | Q86XE0 | 598 |
| VPS26B | SNX4 | O95219 | 569 |
| VPS26B | SNX17 | Q15036 | 548 |
| VPS26B | ENTR1 | Q96C92 | 543 |
| VPS26B | DNAJC13 | O75165 | 523 |
| VPS26B | WASHC1 | A8K0Z3 | 518 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VPS26B | VPS35 | psi-mi:“MI:0915”(physical association) | 0.910 |
| TBC1D5 | VPS26A | psi-mi:“MI:0914”(association) | 0.810 |
| VPS29 | VPS26C | psi-mi:“MI:0914”(association) | 0.760 |
| VPS29 | VPS26B | psi-mi:“MI:0914”(association) | 0.730 |
| NPLOC4 | VPS26B | psi-mi:“MI:0915”(physical association) | 0.560 |
| VPS26B | NPLOC4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VPS26A | VPS26B | psi-mi:“MI:0914”(association) | 0.530 |
| TRMO | STAT5B | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFC3H1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNX3 | VPS26A | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| VPS35 | SPAG9 | psi-mi:“MI:0914”(association) | 0.530 |
| VPS26B | ABCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS26B | KIF1B | psi-mi:“MI:0914”(association) | 0.350 |
| E6 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS26B | CFAP410 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFC3H1 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRM1 | KIAA0391 | psi-mi:“MI:0914”(association) | 0.350 |
| LOXL3 | MSI1 | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (127): VPS26B (Affinity Capture-RNA), VPS26B (Affinity Capture-RNA), VPS26B (Affinity Capture-RNA), VPS26B (Affinity Capture-MS), VPS29 (Affinity Capture-MS), VPS35 (Affinity Capture-MS), NEK1 (Affinity Capture-MS), SUPT5H (Affinity Capture-MS), ATE1 (Affinity Capture-MS), TBC1D5 (Affinity Capture-MS), C21orf2 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), SNX27 (Affinity Capture-MS), VPS26B (Affinity Capture-MS), VPS26B (Co-fractionation)
ESM2 similar proteins: A0A7J6K9S4, A5PF44, C4R360, C5DL84, C5DRZ0, O01258, O17972, O45782, O75436, P30647, P40335, P40336, P53179, Q02331, Q09219, Q0VD53, Q10243, Q17388, Q18268, Q19829, Q28HT6, Q4G0F5, Q55CA0, Q5BKM4, Q5R436, Q5RAV3, Q68F29, Q6AY86, Q6CTM7, Q6DFB9, Q6DFU4, Q6DH23, Q6DTM3, Q6FWV1, Q6IRD0, Q6PAW0, Q6PB19, Q6PBN2, Q6TNP8, Q754G2
Diamond homologs: O01258, O75436, P40335, P40336, Q0VD53, Q10243, Q28HT6, Q4G0F5, Q55CA0, Q5BKM4, Q5R436, Q68F29, Q6AY86, Q6DFB9, Q6DFU4, Q6DH23, Q6IRD0, Q6TNP8, Q7ZV03, Q8C0E2, Q8I4T1, Q9FJD0, Q9T091, Q9W552
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 60 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| endocytic recycling | 6 | 36.5× | 5e-06 |
| retrograde transport, endosome to Golgi | 6 | 28.0× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 393778 | GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 | Pathogenic |
SpliceAI
1162 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:134225341:GATCG:G | donor_gain | 1.0000 |
| 11:134225343:TCGGT:T | donor_loss | 1.0000 |
| 11:134225345:GGT:G | donor_loss | 1.0000 |
| 11:134225346:G:C | donor_loss | 1.0000 |
| 11:134225347:T:G | donor_loss | 1.0000 |
| 11:134240137:T:G | donor_gain | 1.0000 |
| 11:134240156:G:GG | donor_gain | 1.0000 |
| 11:134243116:CA:C | acceptor_loss | 1.0000 |
| 11:134243117:A:AG | acceptor_gain | 1.0000 |
| 11:134243118:G:GA | acceptor_gain | 1.0000 |
| 11:134243118:GA:G | acceptor_gain | 1.0000 |
| 11:134243118:GAT:G | acceptor_gain | 1.0000 |
| 11:134243118:GATA:G | acceptor_gain | 1.0000 |
| 11:134243118:GATAC:G | acceptor_gain | 1.0000 |
| 11:134243291:CGAG:C | donor_loss | 1.0000 |
| 11:134243293:AG:A | donor_loss | 1.0000 |
| 11:134243294:GG:G | donor_loss | 1.0000 |
| 11:134243295:G:T | donor_loss | 1.0000 |
| 11:134243296:T:A | donor_loss | 1.0000 |
| 11:134244932:CTACA:C | acceptor_loss | 1.0000 |
| 11:134244933:TACA:T | acceptor_loss | 1.0000 |
| 11:134244936:A:AG | acceptor_gain | 1.0000 |
| 11:134244936:A:T | acceptor_loss | 1.0000 |
| 11:134244937:G:GA | acceptor_loss | 1.0000 |
| 11:134244937:G:GG | acceptor_gain | 1.0000 |
| 11:134244937:GGA:G | acceptor_gain | 1.0000 |
| 11:134244937:GGAGA:G | acceptor_gain | 1.0000 |
| 11:134245077:GCAG:G | donor_gain | 1.0000 |
| 11:134245079:AGG:A | donor_loss | 1.0000 |
| 11:134245080:GGTG:G | donor_loss | 1.0000 |
AlphaMissense
2233 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:134225259:T:A | V46D | 1.000 |
| 11:134225264:G:A | G48R | 1.000 |
| 11:134225264:G:C | G48R | 1.000 |
| 11:134225264:G:T | G48W | 1.000 |
| 11:134225265:G:A | G48E | 1.000 |
| 11:134225336:G:A | G72R | 1.000 |
| 11:134225336:G:C | G72R | 1.000 |
| 11:134225336:G:T | G72W | 1.000 |
| 11:134225337:G:A | G72E | 1.000 |
| 11:134225337:G:T | G72V | 1.000 |
| 11:134234929:T:C | F86L | 1.000 |
| 11:134234930:T:C | F86S | 1.000 |
| 11:134234931:T:A | F86L | 1.000 |
| 11:134234931:T:G | F86L | 1.000 |
| 11:134234999:T:C | F109S | 1.000 |
| 11:134235034:G:A | G121R | 1.000 |
| 11:134235034:G:C | G121R | 1.000 |
| 11:134235034:G:T | G121W | 1.000 |
| 11:134235035:G:A | G121E | 1.000 |
| 11:134235035:G:T | G121V | 1.000 |
| 11:134235050:T:C | L126P | 1.000 |
| 11:134235053:G:C | R127P | 1.000 |
| 11:134239992:T:G | Y128D | 1.000 |
| 11:134240002:G:C | R131P | 1.000 |
| 11:134240056:T:A | V149D | 1.000 |
| 11:134240101:T:A | M164K | 1.000 |
| 11:134240101:T:C | M164T | 1.000 |
| 11:134240101:T:G | M164R | 1.000 |
| 11:134240102:G:A | M164I | 1.000 |
| 11:134240102:G:C | M164I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000236606 (11:134241395 G>A), RS1000388468 (11:134248228 G>A), RS1000444119 (11:134242710 G>C), RS1000731010 (11:134244493 C>T), RS1000814728 (11:134240957 T>G), RS1000894427 (11:134232137 C>T), RS1000953966 (11:134238724 T>C), RS1000983281 (11:134225633 G>A), RS1000988579 (11:134226876 A>G), RS1000996789 (11:134237189 T>C), RS1001144387 (11:134233225 G>A), RS1001186069 (11:134244250 T>A), RS1001490960 (11:134233465 T>C,G), RS1001551014 (11:134240623 A>G), RS1001554793 (11:134231798 C>A,T)
Disease associations
OMIM: gene MIM:610027 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002701_37 | Verbal declarative memory | 2.000000e-06 |
| GCST90000047_174 | Age at first sexual intercourse | 4.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067157 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 4 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| bisphenol F | increases expression | 1 |
| uranyl acetate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Diazinon | increases methylation | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Tretinoin | affects cotreatment, decreases expression | 1 |
| Uranium | affects expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 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 |
|---|---|---|---|
| CHEMBL5652812 | Binding | Binding affinity to human VPS26B 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.