MVB12A
gene geneOn this page
Also known as FLJ32495
Summary
MVB12A (multivesicular body subunit 12A, HGNC:25153) is a protein-coding gene on chromosome 19p13.11, encoding Multivesicular body subunit 12A (Q96EY5). Component of the ESCRT-I complex, a regulator of vesicular trafficking process.
Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway. Located in several cellular components, including centrosome; cytosol; and vesicle. Part of ESCRT I complex.
Source: NCBI Gene 93343 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_138401
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25153 |
| Approved symbol | MVB12A |
| Name | multivesicular body subunit 12A |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32495 |
| Ensembl gene | ENSG00000141971 |
| Ensembl biotype | protein_coding |
| Entrez | 93343 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 10 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000317040, ENST00000524382, ENST00000526234, ENST00000528515, ENST00000528604, ENST00000528659, ENST00000528732, ENST00000528911, ENST00000528997, ENST00000529490, ENST00000529939, ENST00000594784, ENST00000600514, ENST00000875213, ENST00000875214, ENST00000919685
RefSeq mRNA: 2 — MANE Select: NM_138401
NM_001304547, NM_138401
CCDS: CCDS12359
Canonical transcript exons
ENST00000317040 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001256513 | 17422332 | 17422458 |
| ENSE00002195423 | 17420047 | 17420225 |
| ENSE00003070501 | 17424931 | 17425332 |
| ENSE00003471511 | 17423498 | 17423617 |
| ENSE00003585650 | 17424006 | 17424067 |
| ENSE00003601886 | 17424621 | 17424677 |
| ENSE00003615114 | 17420313 | 17420411 |
| ENSE00003619294 | 17420538 | 17420634 |
| ENSE00003787260 | 17423693 | 17423799 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 95.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.8641 / max 183.9830, expressed in 1809 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174514 | 15.9954 | 1797 |
| 174515 | 11.8687 | 1771 |
| 174508 | 0.9785 | 429 |
| 174512 | 0.0802 | 20 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right ovary | UBERON:0002118 | 95.57 | gold quality |
| left ovary | UBERON:0002119 | 95.33 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.01 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.78 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.69 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.60 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.16 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.02 | gold quality |
| right uterine tube | UBERON:0001302 | 93.79 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.78 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.60 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.41 | gold quality |
| granulocyte | CL:0000094 | 93.17 | gold quality |
| left uterine tube | UBERON:0001303 | 92.68 | gold quality |
| thyroid gland | UBERON:0002046 | 92.66 | gold quality |
| skin of leg | UBERON:0001511 | 92.65 | gold quality |
| adrenal gland | UBERON:0002369 | 92.58 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.53 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.49 | gold quality |
| ascending aorta | UBERON:0001496 | 91.66 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.64 | gold quality |
| ectocervix | UBERON:0012249 | 91.62 | gold quality |
| omental fat pad | UBERON:0010414 | 91.59 | gold quality |
| body of stomach | UBERON:0001161 | 91.57 | gold quality |
| peritoneum | UBERON:0002358 | 91.53 | gold quality |
| ovary | UBERON:0000992 | 91.52 | gold quality |
| transverse colon | UBERON:0001157 | 91.28 | gold quality |
| body of pancreas | UBERON:0001150 | 91.27 | gold quality |
| left coronary artery | UBERON:0001626 | 91.19 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting MVB12A, 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-548AN | 99.97 | 70.91 | 2817 |
| 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 |
| HSA-MIR-10524-5P | 99.05 | 66.08 | 963 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-514A-3P | 96.43 | 67.77 | 1048 |
| HSA-MIR-514B-3P | 96.43 | 67.77 | 1048 |
| HSA-MIR-10396B-5P | 94.99 | 63.57 | 358 |
| HSA-MIR-1908-5P | 94.99 | 63.41 | 352 |
| HSA-MIR-663A | 94.99 | 63.54 | 378 |
Literature-anchored findings (GeneRIF, showing 3)
- CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP (PMID:16895919)
- These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I. (PMID:20654576)
- A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission. (PMID:32424346)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mvb12a | ENSDARG00000099741 |
| mus_musculus | Mvb12a | ENSMUSG00000031813 |
| rattus_norvegicus | Mvb12a | ENSRNOG00000017949 |
| drosophila_melanogaster | Mvb12 | FBGN0030894 |
| caenorhabditis_elegans | WBGENE00015508 |
Protein
Protein identifiers
Multivesicular body subunit 12A — Q96EY5 (reviewed: Q96EY5)
Alternative names: CIN85/CD2AP family-binding protein, ESCRT-I complex subunit MVB12A, Protein FAM125A
All UniProt accessions (6): E9PJW8, E9PLL0, E9PLZ8, E9PQA6, Q96EY5, M0QZK6
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 the ligand-mediated internalization and down-regulation of EGF receptor.
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 CD2AP and CIN85/SH3KBP1. Interacts with CD2AP (via one of the SH3 domains). Interacts with TSG101; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS28. Interacts with VPS37B; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37C; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37D; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with CEP55.
Subcellular location. Cytoplasm. Nucleus. Endosome. Cytoskeleton. Microtubule organizing center. Centrosome. Late endosome membrane.
Tissue specificity. Ubiquitously expressed except in skeletal muscle.
Post-translational modifications. Phosphorylated on Tyr-204 upon EGF stimulation. Phosphorylation is required for interaction with CD2AP and CIN85/SH3KBP1.
Miscellaneous. Does not interact with CD2AP.
Similarity. Belongs to the MVB12 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96EY5-1 | 1 | yes |
| Q96EY5-2 | 2, Delta 5 | |
| Q96EY5-3 | 3, Delta 8 |
RefSeq proteins (2): NP_001291476, NP_612410* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018798 | ||
| IPR023340 | UMA | Domain |
| IPR023341 | MABP | Domain |
| IPR040335 | MVB12A | Family |
Pfam: PF10240
UniProt features (21 total): modified residue 8, domain 2, splice variant 2, mutagenesis site 2, helix 2, chain 1, sequence variant 1, strand 1, region of interest 1, short sequence motif 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-Q96EY5-F1 | 77.43 | 0.40 |
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 (8): 204, 207, 232, 130, 163, 170, 195, 202
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 204 | mimics constitutively phosphorylated form and has the ability to interact with cd2ap and cin85/sh3kbp1 without egf treat |
| 204 | abolishes interaction with cd2ap and cin85/sh3kbp1. |
Function
Pathways and Gene Ontology
Reactome pathways
17 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 |
| R-HSA-162587 | HIV Life Cycle |
| R-HSA-162599 | Late Phase of HIV Life Cycle |
| R-HSA-162906 | HIV Infection |
| R-HSA-1643685 | Disease |
| R-HSA-174495 | Synthesis And Processing Of GAG, GAGPOL Polyproteins |
| R-HSA-175474 | Assembly Of The HIV Virion |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9609646 | HCMV Infection |
| R-HSA-9612973 | Autophagy |
| R-HSA-9824446 | Viral Infection Pathways |
MSigDB gene sets: 185 (showing top):
REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, RRAGTTGT_UNKNOWN, GOBP_LYSOSOMAL_TRANSPORT, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_ENDOSOME_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MACROAUTOPHAGY
GO Biological Process (12): macroautophagy (GO:0016236), virus maturation (GO:0019075), endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510), receptor catabolic process (GO:0032801), multivesicular body assembly (GO:0036258), viral budding via host ESCRT complex (GO:0039702), regulation of epidermal growth factor receptor signaling pathway (GO:0042058), 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), viral budding (GO:0046755), membrane fission (GO:0090148), protein transport (GO:0015031)
GO Molecular Function (4): lipid binding (GO:0008289), SH3 domain binding (GO:0017124), ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (12): ESCRT I complex (GO:0000813), nucleus (GO:0005634), centrosome (GO:0005813), cytosol (GO:0005829), endosome membrane (GO:0010008), late endosome membrane (GO:0031902), vesicle (GO:0031982), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| Late Phase of HIV Life Cycle | 2 |
| Viral Infection Pathways | 2 |
| Synthesis And Processing Of GAG, GAGPOL Polyproteins | 1 |
| Membrane Trafficking | 1 |
| HCMV Infection | 1 |
| Autophagy | 1 |
| HIV Infection | 1 |
| HIV Life Cycle | 1 |
| Assembly Of The HIV Virion | 1 |
| Vesicle-mediated transport | 1 |
| Disease | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| viral process | 2 |
| binding | 2 |
| endosome membrane | 2 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| viral life cycle | 1 |
| endosome to lysosome transport | 1 |
| endosome transport via multivesicular body sorting pathway | 1 |
| macromolecule catabolic process | 1 |
| receptor metabolic process | 1 |
| multivesicular body organization | 1 |
| organelle assembly | 1 |
| viral budding | 1 |
| epidermal growth factor receptor signaling pathway | 1 |
| regulation of ERBB signaling pathway | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| protein catabolic process in the vacuole | 1 |
| multivesicular body sorting pathway | 1 |
| intracellular protein transport | 1 |
| late endosome to vacuole transport via multivesicular body sorting pathway | 1 |
| ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | 1 |
| protein localization to vacuole | 1 |
| establishment of protein localization to vacuole | 1 |
| virion assembly | 1 |
| membrane organization | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| protein domain specific binding | 1 |
| ubiquitin-like protein binding | 1 |
| ESCRT complex | 1 |
| membrane protein complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
594 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MVB12A | VPS28 | Q9UK41 | 985 |
| MVB12A | TSG101 | Q99816 | 978 |
| MVB12A | VPS37A | Q8NEZ2 | 916 |
| MVB12A | VPS37B | Q9H9H4 | 833 |
| MVB12A | UBAP1 | Q9NZ09 | 776 |
| MVB12A | VPS36 | Q86VN1 | 732 |
| MVB12A | VPS37C | A5D8V6 | 728 |
| MVB12A | VPS37D | Q86XT2 | 652 |
| MVB12A | VPS25 | Q9BRG1 | 572 |
| MVB12A | CHMP6 | Q96FZ7 | 568 |
| MVB12A | CD2AP | Q9Y5K6 | 557 |
| MVB12A | ZC3H7A | Q8IWR0 | 547 |
| MVB12A | ZNHIT6 | Q9NWK9 | 547 |
| MVB12A | CHMP3 | Q9Y3E7 | 544 |
| MVB12A | A0A140T963 | A0A140T963 | 544 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRB2 | WIPF3 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VPS28 | VPS37A | psi-mi:“MI:0914”(association) | 0.640 |
| CIDEB | MVB12A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | MVB12A | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R27 | MVB12A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MANSC1 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A41 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| CDK5R1 | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| TAS2R7 | ATP2B4 | psi-mi:“MI:0914”(association) | 0.500 |
| MVB12A | OXTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| Cep55 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| Cd2ap | psi-mi:“MI:0914”(association) | 0.350 | |
| Chmp4b | psi-mi:“MI:0914”(association) | 0.350 | |
| Sec24c | SEC31A | psi-mi:“MI:0914”(association) | 0.350 |
| Spast | psi-mi:“MI:0914”(association) | 0.350 | |
| Tsg101 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| Vps28 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHMP4B | ELOC | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| TAS2R7 | PRKCA | psi-mi:“MI:0914”(association) | 0.350 |
| VPS28 | DCAF6 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE2U | MVB12A | psi-mi:“MI:0914”(association) | 0.350 |
| PDLIM7 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (109): MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS), ARFIP1 (Co-fractionation), MVB12A (Co-fractionation), MVB12A (Co-fractionation), MVB12A (Co-fractionation), TSG101 (Co-fractionation), VPS28 (Co-fractionation), VPS37B (Co-fractionation), MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS)
ESM2 similar proteins: A2A9C3, A6QQV9, D4A039, D4AB98, F7EL49, O00750, O14525, P59240, Q1JPG0, Q1LZ89, Q2QL82, Q2QLG9, Q3T0N1, Q495M9, Q4V8Y7, Q5T011, Q5ZJX7, Q61137, Q62671, Q68DU8, Q6P549, Q6P777, Q78HU3, Q7L4E1, Q7SXX7, Q7ZYJ7, Q80TP3, Q80U93, Q86UW9, Q86XL3, Q8BK03, Q8BYR5, Q8BZI0, Q8C008, Q8CDG3, Q8CF97, Q8R3P2, Q8TED9, Q8VH46, Q92574
Diamond homologs: Q3T0N1, Q5ZJX7, Q6KAU4, Q6P777, Q78HU3, Q7SXX7, Q7ZYJ7, Q96EY5, Q9H7P6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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) | 5 | 38.4× | 4e-05 |
| Late endosomal microautophagy | 5 | 34.0× | 5e-05 |
| RET signaling | 6 | 32.4× | 1e-05 |
| Signaling by SCF-KIT | 5 | 25.9× | 2e-04 |
| RAF/MAP kinase cascade | 6 | 7.6× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| multivesicular body assembly | 5 | 45.4× | 4e-05 |
| membrane fission | 5 | 35.4× | 4e-05 |
| macroautophagy | 6 | 24.9× | 4e-05 |
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 | 39 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
990 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:17420221:GCGCG:G | donor_gain | 1.0000 |
| 19:17420635:G:GG | donor_gain | 1.0000 |
| 19:17420679:G:GT | donor_gain | 1.0000 |
| 19:17422330:A:AG | acceptor_gain | 1.0000 |
| 19:17422331:G:GG | acceptor_gain | 1.0000 |
| 19:17422457:GG:G | donor_gain | 1.0000 |
| 19:17422458:GG:G | donor_gain | 1.0000 |
| 19:17423490:T:A | acceptor_gain | 1.0000 |
| 19:17423688:TCCA:T | acceptor_loss | 1.0000 |
| 19:17423689:CCAG:C | acceptor_loss | 1.0000 |
| 19:17423691:A:AG | acceptor_gain | 1.0000 |
| 19:17423691:A:T | acceptor_loss | 1.0000 |
| 19:17423692:G:GT | acceptor_gain | 1.0000 |
| 19:17423692:GT:G | acceptor_gain | 1.0000 |
| 19:17423692:GTA:G | acceptor_gain | 1.0000 |
| 19:17423692:GTAA:G | acceptor_gain | 1.0000 |
| 19:17424004:A:AG | acceptor_gain | 1.0000 |
| 19:17424005:G:GA | acceptor_gain | 1.0000 |
| 19:17420409:GAG:G | donor_gain | 0.9900 |
| 19:17420409:GAGGT:G | donor_loss | 0.9900 |
| 19:17420411:GGTAA:G | donor_loss | 0.9900 |
| 19:17420412:G:C | donor_loss | 0.9900 |
| 19:17420530:A:AG | acceptor_gain | 0.9900 |
| 19:17420531:C:G | acceptor_gain | 0.9900 |
| 19:17420536:A:AG | acceptor_gain | 0.9900 |
| 19:17420537:G:GG | acceptor_gain | 0.9900 |
| 19:17420630:TTCCA:T | donor_gain | 0.9900 |
| 19:17420631:TCCA:T | donor_gain | 0.9900 |
| 19:17420633:CA:C | donor_gain | 0.9900 |
| 19:17420633:CAGTA:C | donor_loss | 0.9900 |
AlphaMissense
1751 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:17424943:T:C | F258L | 1.000 |
| 19:17424945:C:A | F258L | 1.000 |
| 19:17424945:C:G | F258L | 1.000 |
| 19:17424954:G:C | E261D | 1.000 |
| 19:17424954:G:T | E261D | 1.000 |
| 19:17424018:T:A | V218D | 0.999 |
| 19:17424023:T:C | F220L | 0.999 |
| 19:17424024:T:C | F220S | 0.999 |
| 19:17424025:C:A | F220L | 0.999 |
| 19:17424025:C:G | F220L | 0.999 |
| 19:17424944:T:C | F258S | 0.999 |
| 19:17424953:A:T | E261V | 0.999 |
| 19:17420184:T:A | W17R | 0.998 |
| 19:17420184:T:C | W17R | 0.998 |
| 19:17423520:T:A | W146R | 0.998 |
| 19:17423520:T:C | W146R | 0.998 |
| 19:17424024:T:G | F220C | 0.998 |
| 19:17424653:G:C | K245N | 0.998 |
| 19:17424653:G:T | K245N | 0.998 |
| 19:17424667:T:A | I250N | 0.998 |
| 19:17424937:T:C | Y256H | 0.998 |
| 19:17424944:T:G | F258C | 0.998 |
| 19:17424952:G:A | E261K | 0.998 |
| 19:17422410:T:A | V122D | 0.997 |
| 19:17422418:A:C | S125R | 0.997 |
| 19:17422420:T:A | S125R | 0.997 |
| 19:17422420:T:G | S125R | 0.997 |
| 19:17424943:T:A | F258I | 0.997 |
| 19:17423518:T:A | I145N | 0.996 |
| 19:17424023:T:A | F220I | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000102962 (19:17425059 C>A,G,T), RS1000157410 (19:17408539 G>A,T), RS1000554402 (19:17424320 G>A), RS1000906895 (19:17406000 C>G,T), RS1000937391 (19:17406221 C>G,T), RS1001013922 (19:17412837 C>T), RS1001224664 (19:17423741 A>G), RS1001369736 (19:17424319 C>T), RS1001471429 (19:17412110 A>C), RS1001694957 (19:17406924 G>T), RS1001726704 (19:17424005 G>T), RS1002035142 (19:17405696 G>C), RS1002420554 (19:17418179 G>A,T), RS1002733186 (19:17416379 G>A), RS1002849299 (19:17413489 G>C)
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
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| sodium arsenite | affects binding, increases reaction, increases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | affects expression, decreases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cytarabine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1XY | Abcam HeLa MVB12A KO | Cancer cell line | Female |
| CVCL_F1P5 | HyCyte HCT 116 KO-hMVB12A | Cancer cell line | Male |
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.