RAB6C
geneOn this page
Also known as WTH3
Summary
RAB6C (RAB6C, member RAS oncogene family, HGNC:16525) is a protein-coding gene on chromosome 2q21.1, encoding Ras-related protein Rab-6C (Q9H0N0). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Enables GTPase activity. Involved in mitotic cell cycle; regulation of centrosome duplication; and response to xenobiotic stimulus. Located in Golgi apparatus; microtubule organizing center; and nucleoplasm.
Source: NCBI Gene 84084 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 45 total
- MANE Select transcript:
NM_032144
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16525 |
| Approved symbol | RAB6C |
| Name | RAB6C, member RAS oncogene family |
| Location | 2q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | WTH3 |
| Ensembl gene | ENSG00000222014 |
| Ensembl biotype | protein_coding |
| OMIM | 612909 |
| Entrez | 84084 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000410061
RefSeq mRNA: 1 — MANE Select: NM_032144
NM_032144
CCDS: CCDS46408
Canonical transcript exons
ENST00000410061 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001588213 | 129979666 | 129982738 |
Expression profiles
Bgee: expression breadth broad, 79 present calls, max score 74.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4115 / max 68.4150, expressed in 1725 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 22493 | 5.3873 | 1725 |
| 22494 | 0.0242 | 8 |
Top tissues by expression
114 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.85 | silver quality |
| endometrium | UBERON:0001295 | 70.17 | gold quality |
| primary visual cortex | UBERON:0002436 | 65.45 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 64.44 | gold quality |
| prefrontal cortex | UBERON:0000451 | 64.40 | gold quality |
| Ammon’s horn | UBERON:0001954 | 62.37 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 61.69 | gold quality |
| corpus callosum | UBERON:0002336 | 61.55 | gold quality |
| frontal cortex | UBERON:0001870 | 61.41 | gold quality |
| putamen | UBERON:0001874 | 59.91 | gold quality |
| cerebral cortex | UBERON:0000956 | 59.89 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 58.89 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 58.88 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 58.70 | gold quality |
| substantia nigra | UBERON:0002038 | 58.49 | gold quality |
| temporal lobe | UBERON:0001871 | 58.37 | gold quality |
| amygdala | UBERON:0001876 | 58.28 | gold quality |
| caudate nucleus | UBERON:0001873 | 57.65 | gold quality |
| nucleus accumbens | UBERON:0001882 | 57.20 | gold quality |
| hypothalamus | UBERON:0001898 | 57.01 | gold quality |
| placenta | UBERON:0001987 | 56.89 | gold quality |
| cortical plate | UBERON:0005343 | 56.60 | gold quality |
| right frontal lobe | UBERON:0002810 | 56.44 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 55.68 | gold quality |
| endocervix | UBERON:0000458 | 55.52 | gold quality |
| brain | UBERON:0000955 | 54.46 | gold quality |
| lower esophagus | UBERON:0013473 | 53.85 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 53.85 | gold quality |
| uterine cervix | UBERON:0000002 | 52.23 | gold quality |
| popliteal artery | UBERON:0002250 | 51.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.11 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
90 targeting RAB6C, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
Literature-anchored findings (GeneRIF, showing 7)
- The behavior of WTH3 in primary drug-resistant breast cancer epithelial cells was similar to that in a model system where epigenetic regulation of the WTH3 gene was linked to the MDR phenotype. (PMID:16267028)
- The negative role played by the WTH3 gene in MDR development is through its proapoptotic potential that is regulated by multiple mechanisms at the transcription level, and one of these mechanisms is linked to the p53 gene. (PMID:17426708)
- plays role in multi-drug resistance development;DNA methylation is one of its transcription regulatory mechanisms (PMID:18992151)
- RAB6C is a rare example of a recently emerged retrogene that has acquired the status of a new gene, encoding a functional protein with altered characteristics compared to Rab6A’. (PMID:20064528)
- Rab6A’(Q72L) was then purified to homogeneity and crystallized at 293 K. X-ray diffraction data were collected to a resolution of 1.9 A from a crystal belonging to space group P22(1)2(1) with unit-cell parameters a = 36.84, b = 96.78, c = 109.99 A (PMID:22949199)
- This is the first study to report hypermethylation of LRPPRC, RAB6C, and ZNF471 in squamous cell carcinoma of the tongue (PMID:28255813)
- Rab6c is a new target of miR218 that can promote the progression of bladder cancer. (PMID:34515321)
Cross-species orthologs
0 orthologs
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)
Protein
Protein identifiers
Ras-related protein Rab-6C — Q9H0N0 (reviewed: Q9H0N0)
Alternative names: Rab6-like protein WTH3
All UniProt accessions (1): Q9H0N0
UniProt curated annotations — full annotation on UniProt →
Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB6C may be involved in the regulation of centrosome duplication and cell cycle progression.
Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Tissue specificity. Highest levels are found in fetal and adult brain, prostate, testis and spinal cord. Undetectable expression in adrenal gland, skeletal muscle, bone marrow, fetal, and adult liver, heart, salivary gland, and trachea. Detected in the HEK293, HEK293T, LNCaP, MCF-7, T-47D and EVSA-T cell lines (at protein level).
Domain organisation. Switch 1, switch 2 and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drives interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Miscellaneous. Primate-specific retrogene derived from isoform 2 of RAB6A transcript. Previously reported to exhibit GTP-binding affinity comparable to that of RAB6A. In contrast concludes that RAB6C is an inefficient GTP-binding.
Similarity. Belongs to the small GTPase superfamily. Rab family.
RefSeq proteins (1): NP_115520* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050227 | Rab | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (25 total): binding site 17, short sequence motif 2, mutagenesis site 2, chain 1, region of interest 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0N0-F1 | 73.09 | 0.43 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (17): 28; 39; 40; 42; 68; 71; 126; 127; 129; 157; 158; 23 …
Post-translational modifications (1): 82
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 25 | no gtp binding. no gtp binding; when associated with t-45. |
| 45 | no gtp binding; when associated with g-25. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 87 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GGCAGTG_MIR3243P, GOBP_MITOTIC_CELL_CYCLE, LYF1_01, GOBP_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS, AACTTT_UNKNOWN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE
GO Biological Process (9): mitotic cell cycle (GO:0000278), intracellular protein transport (GO:0006886), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), intra-Golgi vesicle-mediated transport (GO:0006891), small GTPase-mediated signal transduction (GO:0007264), response to xenobiotic stimulus (GO:0009410), regulation of centrosome duplication (GO:0010824), retrograde transport, endosome to Golgi (GO:0042147), protein localization to Golgi membrane (GO:1903292)
GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (9): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), endomembrane system (GO:0012505), ciliary basal body (GO:0036064), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| Golgi vesicle transport | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| microtubule organizing center | 2 |
| cell cycle | 1 |
| mitotic nuclear division | 1 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| intracellular signaling cassette | 1 |
| response to chemical | 1 |
| regulation of centrosome cycle | 1 |
| centrosome duplication | 1 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| protein localization to Golgi apparatus | 1 |
| protein localization to membrane | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
820 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB6C | VPS53 | Q5VIR6 | 779 |
| RAB6C | DAXX | Q9UER7 | 526 |
| RAB6C | H3-3A | P06351 | 431 |
| RAB6C | H3C1 | P02295 | 418 |
| RAB6C | H3C14 | Q71DI3 | 370 |
| RAB6C | H3-5 | Q6NXT2 | 367 |
| RAB6C | H3-4 | Q16695 | 358 |
| RAB6C | H3-7 | Q5TEC6 | 358 |
| RAB6C | H2AC20 | Q16777 | 317 |
| RAB6C | H2AC19 | P20670 | 316 |
| RAB6C | RINT1 | Q6NUQ1 | 306 |
| RAB6C | ZNF471 | Q9BX82 | 290 |
| RAB6C | RIC1 | Q4ADV7 | 287 |
| RAB6C | TBC1D3B | A6NDS4 | 278 |
| RAB6C | GDI1 | P31150 | 277 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| RAB8A | WDR91 | psi-mi:“MI:0914”(association) | 0.600 |
| RAB6C | APBB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB6C | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RAB6C | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB12 | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RAB6B | SBF1 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB6B | RAB6A | psi-mi:“MI:0914”(association) | 0.530 |
| Bicdl2 | RAB6C | psi-mi:“MI:0915”(physical association) | 0.400 |
| RAB10 | RAB19 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB6B | SBF1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIMS1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| RAB6C | CCT6A | psi-mi:“MI:0914”(association) | 0.350 |
| RAB6C | HLA-DRB1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB6C | CAPS | psi-mi:“MI:0914”(association) | 0.350 |
| RAB6C | araB | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): RAB6C (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), RAB6C (Affinity Capture-MS), CCT6B (Affinity Capture-MS), RAB6C (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), RAB6C (Proximity Label-MS), RAB6A (Cross-Linking-MS (XL-MS)), RAB6C (Affinity Capture-MS), RAB6C (Co-fractionation), RAB6C (Co-fractionation), Ccdc64b (Affinity Capture-Western)
ESM2 similar proteins: A2YEQ6, O35963, O74536, O95661, O95755, P25378, P35283, P35284, P51156, P52198, P97950, Q00246, Q02723, Q06AU4, Q08AT1, Q08E00, Q09178, Q14088, Q20365, Q29RR0, Q3SXC5, Q3UHC2, Q504M8, Q53S08, Q5H913, Q5JT25, Q5R615, Q5U1Y1, Q5ZHV1, Q62120, Q62689, Q64008, Q69XM7, Q6IQ22, Q75R65, Q7SZ59, Q7TN89, Q7Z444, Q8C0V7, Q8CAM5
Diamond homologs: A4FV54, A6QR46, M0RC99, O18333, O18334, O80501, P05712, P11023, P16976, P17608, P18066, P20336, P20339, P20340, P22127, P22128, P24409, P25228, P29687, P31582, P31583, P34213, P35276, P35278, P35279, P35280, P35292, P36017, P36586, P36863, P49103, P49104, P51147, P51148, P53994, P55258, P61006, P61007, P61019, P61020
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RAB6C | “down-regulates activity” | VPS13B | binding |
| RAB6C | “up-regulates activity” | VPS13B | binding |
| RAB6C | up-regulates | Neurite_outgrowth | |
| KIF1C | “up-regulates quantity” | RAB6C | relocalization |
| RAB6C | up-regulates | Synaptic_vesicle_exocytosis |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 20 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 |
|---|---|---|---|
| RAB geranylgeranylation | 8 | 86.5× | 8e-13 |
| RAB GEFs exchange GTP for GDP on RABs | 8 | 62.1× | 6e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein transport | 5 | 18.0× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
213 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:129980726:G:GT | donor_gain | 0.9200 |
| 2:129981730:A:AG | acceptor_gain | 0.8500 |
| 2:129981731:G:GG | acceptor_gain | 0.8500 |
| 2:129980212:TTCAG:T | donor_loss | 0.8300 |
| 2:129980213:TCAG:T | donor_loss | 0.8300 |
| 2:129980214:CAGG:C | donor_loss | 0.8300 |
| 2:129980215:AG:A | donor_loss | 0.8300 |
| 2:129980216:GGT:G | donor_loss | 0.8300 |
| 2:129980217:G:C | donor_loss | 0.8300 |
| 2:129980218:T:A | donor_loss | 0.8300 |
| 2:129981731:GAA:G | acceptor_gain | 0.8200 |
| 2:129980718:C:A | donor_gain | 0.7300 |
| 2:129980715:A:AG | donor_gain | 0.7000 |
| 2:129980716:G:GG | donor_gain | 0.7000 |
| 2:129980730:T:TA | donor_gain | 0.7000 |
| 2:129982318:TACA:T | acceptor_gain | 0.6800 |
| 2:129979780:GTCTC:G | donor_gain | 0.6700 |
| 2:129979781:TCTCT:T | donor_gain | 0.6700 |
| 2:129980287:G:C | acceptor_gain | 0.6300 |
| 2:129982352:G:GC | acceptor_gain | 0.5900 |
| 2:129979794:TGCGG:T | donor_gain | 0.5800 |
| 2:129979824:G:T | donor_gain | 0.5700 |
| 2:129980151:G:GT | donor_gain | 0.5600 |
| 2:129980219:A:C | donor_loss | 0.5600 |
| 2:129981731:GA:G | acceptor_gain | 0.5500 |
| 2:129982314:TAAA:T | acceptor_gain | 0.5500 |
| 2:129980462:G:GT | donor_gain | 0.5300 |
| 2:129980807:A:G | donor_gain | 0.5300 |
| 2:129982324:G:GT | acceptor_gain | 0.5000 |
| 2:129982325:T:TT | acceptor_gain | 0.5000 |
AlphaMissense
1655 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:129980569:T:C | F152L | 0.883 |
| 2:129980571:T:A | F152L | 0.883 |
| 2:129980571:T:G | F152L | 0.883 |
| 2:129980416:T:C | F101L | 0.871 |
| 2:129980418:C:A | F101L | 0.871 |
| 2:129980418:C:G | F101L | 0.871 |
| 2:129980155:T:C | F14L | 0.847 |
| 2:129980157:C:A | F14L | 0.847 |
| 2:129980157:C:G | F14L | 0.847 |
| 2:129980212:T:C | F33L | 0.808 |
| 2:129980214:C:A | F33L | 0.808 |
| 2:129980214:C:G | F33L | 0.808 |
| 2:129980614:T:C | F167L | 0.783 |
| 2:129980616:T:A | F167L | 0.783 |
| 2:129980616:T:G | F167L | 0.783 |
| 2:129980167:T:C | F18L | 0.760 |
| 2:129980169:C:A | F18L | 0.760 |
| 2:129980169:C:G | F18L | 0.760 |
| 2:129980548:G:C | A145P | 0.736 |
| 2:129980263:T:C | F50L | 0.724 |
| 2:129980265:T:A | F50L | 0.724 |
| 2:129980265:T:G | F50L | 0.724 |
| 2:129980227:T:C | F38L | 0.719 |
| 2:129980229:T:A | F38L | 0.719 |
| 2:129980229:T:G | F38L | 0.719 |
| 2:129980436:G:C | W107C | 0.701 |
| 2:129980436:G:T | W107C | 0.701 |
| 2:129980434:T:A | W107R | 0.686 |
| 2:129980434:T:C | W107R | 0.686 |
| 2:129980387:T:A | V91E | 0.673 |
dbSNP variants (sampled 300 via entrez): RS1000020366 (2:129978515 A>G), RS1002242624 (2:129978964 G>C,T), RS1002708225 (2:129979313 G>A,T), RS1002994759 (2:129980616 T>C), RS1004141129 (2:129981336 A>G), RS1007486446 (2:129978099 G>A), RS1009583368 (2:129978873 C>G,T), RS1009614535 (2:129978576 G>A), RS1011632452 (2:129981885 G>A,C), RS1012961508 (2:129982943 G>T), RS1013155561 (2:129982568 A>G), RS1016185077 (2:129982603 T>C), RS1017442780 (2:129977856 C>A,T), RS10177167 (2:129979796 C>A,T), RS1017829232 (2:129978124 A>C)
Disease associations
OMIM: gene MIM:612909 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002136_7 | Periodontitis (PAL4Q3) | 8.000000e-06 |
| GCST002136_9 | Periodontitis (PAL4Q3) | 8.000000e-07 |
| GCST007325_50 | General risk tolerance (MTAG) | 5.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008579 | risk-taking behaviour |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | affects cotreatment, increases expression, affects binding, increases reaction | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | affects expression, affects response to substance, increases response to substance | 1 |
| Methotrexate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): periodontitis