VPS37B
gene geneOn this page
Also known as FLJ12750
Summary
VPS37B (VPS37B subunit of ESCRT-I, HGNC:25754) is a protein-coding gene on chromosome 12q24.31, encoding Vacuolar protein sorting-associated protein 37B (Q9H9H4). Component of the ESCRT-I complex, a regulator of vesicular trafficking process.
Enables calcium-dependent protein binding activity. Predicted to be involved in protein targeting to membrane; protein targeting to vacuole; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Located in endosome membrane; midbody; and plasma membrane. Part of ESCRT I complex.
Source: NCBI Gene 79720 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_024667
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25754 |
| Approved symbol | VPS37B |
| Name | VPS37B subunit of ESCRT-I |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12750 |
| Ensembl gene | ENSG00000139722 |
| Ensembl biotype | protein_coding |
| OMIM | 610037 |
| Entrez | 79720 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000267202, ENST00000371248, ENST00000535765, ENST00000543590, ENST00000852158
RefSeq mRNA: 1 — MANE Select: NM_024667
NM_024667
CCDS: CCDS9239
Canonical transcript exons
ENST00000267202 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000939889 | 122870890 | 122871061 |
| ENSE00000939890 | 122868480 | 122868562 |
| ENSE00001314131 | 122865330 | 122867607 |
| ENSE00002244083 | 122895952 | 122896124 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 96.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.5065 / max 1026.3619, expressed in 1811 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133862 | 39.5065 | 1811 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 96.76 | gold quality |
| sural nerve | UBERON:0015488 | 96.37 | gold quality |
| ventricular zone | UBERON:0003053 | 94.86 | gold quality |
| oocyte | CL:0000023 | 94.82 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.73 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.52 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.51 | gold quality |
| secondary oocyte | CL:0000655 | 94.11 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.92 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.33 | gold quality |
| body of stomach | UBERON:0001161 | 92.82 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.81 | gold quality |
| granulocyte | CL:0000094 | 92.72 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.58 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.41 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.33 | gold quality |
| oral cavity | UBERON:0000167 | 92.10 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.06 | gold quality |
| mouth mucosa | UBERON:0003729 | 91.91 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.70 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 91.69 | gold quality |
| esophagus | UBERON:0001043 | 91.46 | gold quality |
| transverse colon | UBERON:0001157 | 91.40 | gold quality |
| blood | UBERON:0000178 | 91.24 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.86 | gold quality |
| stomach | UBERON:0000945 | 90.83 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.71 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.23 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.20 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
86 targeting VPS37B, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| 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-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
Literature-anchored findings (GeneRIF, showing 1)
- VPS37B and appeared to interact with ALG-2 in a stronger manner than TSG101 does. (PMID:23924735)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | vps37ba | ENSDARG00000039319 |
| danio_rerio | vps37bb | ENSDARG00000101143 |
| mus_musculus | Vps37b | ENSMUSG00000066278 |
| rattus_norvegicus | Vps37b | ENSRNOG00000001086 |
| drosophila_melanogaster | Vps37B | FBGN0037299 |
Paralogs (3): VPS37A (ENSG00000155975), VPS37C (ENSG00000167987), VPS37D (ENSG00000176428)
Protein
Protein identifiers
Vacuolar protein sorting-associated protein 37B — Q9H9H4 (reviewed: Q9H9H4)
Alternative names: ESCRT-I complex subunit VPS37B
All UniProt accessions (3): Q9H9H4, F5H1F6, F5H4M0
UniProt curated annotations — full annotation on UniProt →
Function. Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.
Subunit / interactions. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with TSG101, VPS28, MVB12A and MVB12B. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and UBAP1 in a 1:1:1:1 stoichiometry. Interacts with CEP55. Interacts with IST1.
Subcellular location. Late endosome membrane.
Tissue specificity. Widely expressed. Expressed in macrophages and lymphocytes.
Similarity. Belongs to the VPS37 family.
RefSeq proteins (1): NP_078943* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009851 | Mod_r | Domain |
| IPR029012 | Helix_hairpin_bin_sf | Homologous_superfamily |
| IPR037202 | ESCRT_assembly_dom | Homologous_superfamily |
Pfam: PF07200
UniProt features (10 total): region of interest 3, compositionally biased region 2, helix 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6VME | X-RAY DIFFRACTION | 2.19 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9H4-F1 | 76.42 | 0.45 |
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 (1): 218
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-162588 | Budding and maturation of HIV virion |
| R-HSA-174490 | Membrane binding and targetting of GAG proteins |
| R-HSA-917729 | Endosomal Sorting Complex Required For Transport (ESCRT) |
| R-HSA-9610379 | HCMV Late Events |
| R-HSA-9615710 | Late endosomal microautophagy |
MSigDB gene sets: 317 (showing top):
ATF_B, REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, GOBP_ENDOSOME_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_VACUOLAR_TRANSPORT, CREBP1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_MACROAUTOPHAGY
GO Biological Process (11): protein targeting to membrane (GO:0006612), protein targeting to vacuole (GO:0006623), macroautophagy (GO:0016236), viral release from host cell (GO:0019076), multivesicular body assembly (GO:0036258), viral budding via host ESCRT complex (GO:0039702), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043328), membrane fission (GO:0090148), positive regulation of viral budding via host ESCRT complex (GO:1903774), protein transport (GO:0015031)
GO Molecular Function (2): calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515)
GO Cellular Component (9): ESCRT I complex (GO:0000813), cytoplasm (GO:0005737), endosome (GO:0005768), plasma membrane (GO:0005886), endosome membrane (GO:0010008), midbody (GO:0030496), late endosome membrane (GO:0031902), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Late Phase of HIV Life Cycle | 1 |
| Synthesis And Processing Of GAG, GAGPOL Polyproteins | 1 |
| Membrane Trafficking | 1 |
| HCMV Infection | 1 |
| Autophagy | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein targeting | 2 |
| intracellular protein transport | 2 |
| protein localization to vacuole | 2 |
| establishment of protein localization to vacuole | 2 |
| endosome membrane | 2 |
| establishment of protein localization to membrane | 1 |
| vacuolar transport | 1 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| viral process | 1 |
| viral life cycle | 1 |
| exit from host cell | 1 |
| multivesicular body organization | 1 |
| organelle assembly | 1 |
| viral budding | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| protein catabolic process in the vacuole | 1 |
| multivesicular body sorting pathway | 1 |
| late endosome to vacuole transport via multivesicular body sorting pathway | 1 |
| ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | 1 |
| membrane organization | 1 |
| viral budding via host ESCRT complex | 1 |
| regulation of viral budding via host ESCRT complex | 1 |
| positive regulation of viral life cycle | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| calcium ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| ESCRT complex | 1 |
| membrane protein complex | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
Protein interactions and networks
STRING
539 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VPS37B | VPS28 | Q9UK41 | 984 |
| VPS37B | TSG101 | Q99816 | 949 |
| VPS37B | VPS4A | Q9UN37 | 912 |
| VPS37B | MVB12A | Q96EY5 | 833 |
| VPS37B | MVB12B | Q9H7P6 | 711 |
| VPS37B | CHMP3 | Q9Y3E7 | 663 |
| VPS37B | A0A140T963 | A0A140T963 | 663 |
| VPS37B | VPS25 | Q9BRG1 | 643 |
| VPS37B | CHMP1A | Q9HD42 | 639 |
| VPS37B | CHMP5 | Q9NZZ3 | 617 |
| VPS37B | VPS36 | Q86VN1 | 593 |
| VPS37B | CHMP6 | Q96FZ7 | 588 |
| VPS37B | CHMP1B | Q7LBR1 | 573 |
| VPS37B | CHMP2A | O43633 | 560 |
| VPS37B | UBAP1 | Q9NZ09 | 537 |
IntAct
171 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP55 | TSG101 | psi-mi:“MI:0914”(association) | 0.970 |
| VPS28 | VPS37B | psi-mi:“MI:0915”(physical association) | 0.890 |
| VPS37B | VPS28 | psi-mi:“MI:0915”(physical association) | 0.890 |
| CEP55 | VPS37C | psi-mi:“MI:0914”(association) | 0.800 |
| VPS37B | SMARCD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| VPS37B | SH3YL1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SMARCD1 | VPS37B | psi-mi:“MI:0915”(physical association) | 0.780 |
| SH3YL1 | VPS37B | psi-mi:“MI:0915”(physical association) | 0.780 |
| TSG101 | VPS37C | psi-mi:“MI:0914”(association) | 0.780 |
| GRB2 | WIPF3 | psi-mi:“MI:0914”(association) | 0.730 |
| VPS37B | NCK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| BYSL | VPS37B | psi-mi:“MI:0915”(physical association) | 0.720 |
| UBASH3B | VPS37B | psi-mi:“MI:0915”(physical association) | 0.720 |
| VPS37B | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
| VPS37B | UBASH3B | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (108): VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), VPS37B (Two-hybrid), UBASH3B (Two-hybrid), FBF1 (Two-hybrid), VPS37B (Affinity Capture-MS)
ESM2 similar proteins: A0JPN4, A2A9T0, A5D8V6, A6ND36, A6QQJ8, A7MCY6, E9Q2Z1, O14529, O54714, O70260, O88902, P70298, P98175, Q07912, Q0IIJ3, Q13227, Q13625, Q148V8, Q15025, Q15942, Q3SZL6, Q3U564, Q3UIL6, Q499E4, Q5BJU7, Q5D1E7, Q5D1E8, Q5NVG8, Q5R9T2, Q5RBV9, Q5U2X5, Q5XIA0, Q61140, Q62415, Q62523, Q63767, Q6DG50, Q6IQ23, Q810I0, Q8CG79
Diamond homologs: A5D8V6, Q5R9T2, Q810I0, Q86XT2, Q8R0J7, Q8R105, Q9H9H4, Q9SCP9, Q8CHS8, Q8NEZ2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 74 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 |
|---|---|---|---|
| Endosomal Sorting Complex Required For Transport (ESCRT) | 8 | 53.6× | 6e-10 |
| Budding and maturation of HIV virion | 6 | 44.5× | 4e-07 |
| Late endosomal microautophagy | 7 | 41.5× | 4e-08 |
| HCMV Late Events | 7 | 12.5× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | 8 | 133.8× | 2e-13 |
| multivesicular body assembly | 8 | 66.9× | 5e-11 |
| viral budding via host ESCRT complex | 5 | 63.7× | 1e-06 |
| membrane fission | 9 | 58.7× | 8e-12 |
| ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | 6 | 51.8× | 2e-07 |
| macroautophagy | 8 | 30.6× | 3e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1134 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:122867604:TGTT:T | acceptor_gain | 1.0000 |
| 12:122867605:GTT:G | acceptor_gain | 1.0000 |
| 12:122867606:TT:T | acceptor_gain | 1.0000 |
| 12:122867607:TCT:T | acceptor_loss | 1.0000 |
| 12:122867608:C:CC | acceptor_gain | 1.0000 |
| 12:122868563:C:CC | acceptor_gain | 1.0000 |
| 12:122870885:GTTAC:G | donor_loss | 1.0000 |
| 12:122870886:TTACC:T | donor_loss | 1.0000 |
| 12:122870887:TACCT:T | donor_loss | 1.0000 |
| 12:122870889:C:CG | donor_loss | 1.0000 |
| 12:122870908:T:C | donor_gain | 1.0000 |
| 12:122870937:T:A | donor_gain | 1.0000 |
| 12:122871061:TCT:T | acceptor_loss | 1.0000 |
| 12:122871062:C:CC | acceptor_gain | 1.0000 |
| 12:122871062:C:CG | acceptor_loss | 1.0000 |
| 12:122871063:T:A | acceptor_loss | 1.0000 |
| 12:122895946:GCTCA:G | donor_loss | 1.0000 |
| 12:122895947:CTCA:C | donor_loss | 1.0000 |
| 12:122895948:TCA:T | donor_loss | 1.0000 |
| 12:122895949:CAC:C | donor_loss | 1.0000 |
| 12:122895950:A:C | donor_loss | 1.0000 |
| 12:122895950:ACCT:A | donor_gain | 1.0000 |
| 12:122895951:CCTC:C | donor_gain | 1.0000 |
| 12:122895953:T:TA | donor_gain | 1.0000 |
| 12:122867603:ATGTT:A | acceptor_gain | 0.9900 |
| 12:122867605:GTTCT:G | acceptor_gain | 0.9900 |
| 12:122868490:T:TA | donor_gain | 0.9900 |
| 12:122868559:CTGT:C | acceptor_gain | 0.9900 |
| 12:122870892:A:AC | donor_gain | 0.9900 |
| 12:122870893:A:C | donor_gain | 0.9900 |
AlphaMissense
1818 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:122867537:C:G | R146P | 0.999 |
| 12:122868517:A:G | L110P | 0.999 |
| 12:122867498:A:G | L159P | 0.998 |
| 12:122867519:C:G | R152P | 0.998 |
| 12:122867560:G:C | F138L | 0.998 |
| 12:122867560:G:T | F138L | 0.998 |
| 12:122867561:A:G | F138S | 0.998 |
| 12:122867562:A:G | F138L | 0.998 |
| 12:122870994:A:G | L60P | 0.998 |
| 12:122867516:C:G | R153P | 0.997 |
| 12:122870934:A:G | L80P | 0.997 |
| 12:122871007:C:G | A56P | 0.997 |
| 12:122896010:A:G | L18P | 0.997 |
| 12:122867550:A:C | Y142D | 0.996 |
| 12:122867591:A:G | F128S | 0.996 |
| 12:122868520:A:G | L109P | 0.996 |
| 12:122867526:G:C | H150D | 0.995 |
| 12:122867529:C:G | A149P | 0.995 |
| 12:122868512:C:G | A112P | 0.995 |
| 12:122871015:C:G | R53P | 0.995 |
| 12:122896001:A:G | L21P | 0.995 |
| 12:122871006:G:T | A56E | 0.994 |
| 12:122871009:A:G | L55P | 0.994 |
| 12:122871027:A:G | L49P | 0.994 |
| 12:122868503:C:G | A115P | 0.993 |
| 12:122870996:G:C | N59K | 0.993 |
| 12:122870996:G:T | N59K | 0.993 |
| 12:122871017:G:C | N52K | 0.993 |
| 12:122871017:G:T | N52K | 0.993 |
| 12:122867601:C:G | A125P | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000037591 (12:122881894 C>T), RS1000090174 (12:122874683 T>C), RS1000119167 (12:122871930 G>A), RS1000163742 (12:122875029 T>G), RS1000344487 (12:122867910 G>A), RS1000399748 (12:122874127 T>C), RS1000491154 (12:122864834 C>A,G,T), RS1000609864 (12:122880478 A>C,G,T), RS1000690911 (12:122865520 C>T), RS1000726176 (12:122870497 C>T), RS1001006671 (12:122885765 G>C), RS1001144473 (12:122895488 C>T), RS1001165589 (12:122892575 C>A), RS1001261428 (12:122892237 A>C), RS1001682194 (12:122881807 TA>T,TAA)
Disease associations
OMIM: gene MIM:610037 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007277_17 | Tourette syndrome | 2.000000e-06 |
| GCST90020024_249 | A body shape index | 3.000000e-08 |
| GCST90020024_428 | A body shape index | 3.000000e-08 |
| GCST90020025_33 | Waist-to-hip ratio adjusted for BMI | 8.000000e-11 |
| GCST90020025_401 | Waist-to-hip ratio adjusted for BMI | 5.000000e-09 |
| GCST90020025_402 | Waist-to-hip ratio adjusted for BMI | 7.000000e-11 |
| GCST90020025_41 | Waist-to-hip ratio adjusted for BMI | 8.000000e-11 |
| GCST90020027_1210 | Waist-hip index | 4.000000e-11 |
| GCST90020027_1243 | Waist-hip index | 6.000000e-11 |
| GCST90020027_1253 | Waist-hip index | 2.000000e-08 |
| GCST90020028_1249 | Hip circumference adjusted for BMI | 2.000000e-11 |
| GCST90020028_1258 | Hip circumference adjusted for BMI | 2.000000e-11 |
| GCST90020029_361 | Waist circumference adjusted for body mass index | 4.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, increases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects methylation | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| cupric chloride | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases reaction, affects binding | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 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.