RAB2B
gene geneOn this page
Also known as FLJ14824
Summary
RAB2B (RAB2B, member RAS oncogene family, HGNC:20246) is a protein-coding gene on chromosome 14q11.2, encoding Ras-related protein Rab-2B (Q8WUD1). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.
Source: NCBI Gene 84932 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 51 total
- MANE Select transcript:
NM_032846
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20246 |
| Approved symbol | RAB2B |
| Name | RAB2B, member RAS oncogene family |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14824 |
| Ensembl gene | ENSG00000129472 |
| Ensembl biotype | protein_coding |
| OMIM | 607466 |
| Entrez | 84932 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000397762, ENST00000417141, ENST00000461909, ENST00000475857, ENST00000485996, ENST00000649801
RefSeq mRNA: 2 — MANE Select: NM_032846
NM_001163380, NM_032846
CCDS: CCDS9570
Canonical transcript exons
ENST00000397762 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001493846 | 21459020 | 21461303 |
| ENSE00001530048 | 21476827 | 21476959 |
| ENSE00003471496 | 21468357 | 21468449 |
| ENSE00003482234 | 21462350 | 21462418 |
| ENSE00003501815 | 21474867 | 21474934 |
| ENSE00003541888 | 21468670 | 21468752 |
| ENSE00003548082 | 21476528 | 21476599 |
| ENSE00003563469 | 21463656 | 21463767 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 95.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7664 / max 1685.5116, expressed in 1787 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142177 | 8.9053 | 1751 |
| 142175 | 8.1412 | 1644 |
| 142176 | 2.9462 | 1250 |
| 142174 | 0.5209 | 150 |
| 142173 | 0.2527 | 98 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 95.00 | silver quality |
| ileal mucosa | UBERON:0000331 | 94.44 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.10 | gold quality |
| secondary oocyte | CL:0000655 | 92.03 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.67 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 91.21 | gold quality |
| cortical plate | UBERON:0005343 | 90.87 | gold quality |
| bone marrow | UBERON:0002371 | 90.77 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 90.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.77 | gold quality |
| upper leg skin | UBERON:0004262 | 89.74 | gold quality |
| upper arm skin | UBERON:0004263 | 89.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.43 | gold quality |
| skin of hip | UBERON:0001554 | 88.73 | gold quality |
| bone marrow cell | CL:0002092 | 88.57 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.28 | gold quality |
| adult organism | UBERON:0007023 | 88.18 | gold quality |
| cartilage tissue | UBERON:0002418 | 88.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.09 | gold quality |
| ventricular zone | UBERON:0003053 | 87.79 | gold quality |
| corpus callosum | UBERON:0002336 | 87.67 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 87.54 | gold quality |
| monocyte | CL:0000576 | 87.13 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.01 | gold quality |
| caput epididymis | UBERON:0004358 | 86.86 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.82 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.81 | gold quality |
| tibialis anterior | UBERON:0001385 | 86.79 | silver quality |
| leukocyte | CL:0000738 | 86.77 | gold quality |
| stromal cell of endometrium | CL:0002255 | 86.73 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.75 |
| E-HCAD-10 | no | 2.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
90 targeting RAB2B, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
Literature-anchored findings (GeneRIF, showing 2)
- Data show that Rab2B and a Rab2B-specific effector, GARI-L4, regulate Golgi morphology. (PMID:26209634)
- High RAB2B expression is associated with pancreatic cancer. (PMID:30015954)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rab2b | ENSMUSG00000022159 |
| rattus_norvegicus | Rab2b | ENSRNOG00000012488 |
| caenorhabditis_elegans | WBGENE00008671 | |
| caenorhabditis_elegans | WBGENE00008672 |
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), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)
Protein
Protein identifiers
Ras-related protein Rab-2B — Q8WUD1 (reviewed: Q8WUD1)
All UniProt accessions (3): Q8WUD1, A0A3B3ITL1, E9PE37
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 active GTP-bound and inactive GDP-bound states. In their active state, drive transport of vesicular carriers from donor organelles to acceptor organelles to regulate the membrane traffic that maintains organelle identity and morphology. Regulates the compacted morphology of the Golgi. Promotes cytosolic DNA-induced innate immune responses. Regulates IFN responses against DNA viruses by regulating the CGAS-STING signaling axis. Together with RAB2A redundantly required for efficient autophagic flux.
Subunit / interactions. Interacts (in GTP-bound form) with GARIN4 (via N-terminus). Interacts (in GTP-bound form) with GARIN5A. Interacts (in GTP-bound form) with GARIN1B. Interacts with VPS39 and VPS41.
Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome. Autophagosome membrane.
Tissue specificity. Expressed in kidney, prostate, lung, liver, thymus, colon, pancreas, and skeletal muscle, and low levels in placenta. Not detected in heart, brain, spleen, testis, ovary, small intestine and leukocyte.
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors (GDIs) which inhibit the dissociation of the nucleotide from the GTPase.
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.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WUD1-1 | 1 | yes |
| Q8WUD1-2 | 2 |
RefSeq proteins (2): NP_001156852, NP_116235* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050209 | Rab_GTPases_membrane_traffic | Family |
Pfam: PF00071
Enzyme classification (BRENDA):
- EC 3.6.5.2 — small monomeric GTPase (BRENDA: 49 organisms, 138 substrates, 55 inhibitors, 5 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GTP | — | 0 |
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (51 total): binding site 26, helix 8, strand 6, short sequence motif 2, lipid moiety-binding region 2, chain 1, region of interest 1, modified residue 1, splice variant 1, sequence variant 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2A5J | X-RAY DIFFRACTION | 1.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUD1-F1 | 87.92 | 0.66 |
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 (26): 19; 19; 20; 20; 20; 21; 21; 38; 38; 61; 64; 119 …
Post-translational modifications (3): 202, 215, 216
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 166 (showing top):
GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_EXOCYTOSIS, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, SP1_Q2_01, GOBP_MACROAUTOPHAGY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, MARTINEZ_RB1_TARGETS_UP, GOBP_EXOCYTOSIS
GO Biological Process (8): Golgi organization (GO:0007030), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), macroautophagy (GO:0016236), positive regulation of type I interferon production (GO:0032481), innate immune response (GO:0045087), positive regulation of exocytosis (GO:0045921), defense response to virus (GO:0051607)
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 (11): Golgi membrane (GO:0000139), autophagosome membrane (GO:0000421), acrosomal vesicle (GO:0001669), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| transport | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| positive regulation of cytokine production | 1 |
| regulation of type I interferon production | 1 |
| type I interferon production | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| exocytosis | 1 |
| regulation of exocytosis | 1 |
| positive regulation of secretion by cell | 1 |
| defense response | 1 |
| response to virus | 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 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| vacuolar membrane | 1 |
| autophagosome | 1 |
| secretory granule | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
2570 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB2B | FGA | P02671 | 639 |
| RAB2B | GARIN4 | Q8IYT1 | 474 |
| RAB2B | YKT6 | O15498 | 423 |
| RAB2B | FAM209B | Q5JX69 | 417 |
| RAB2B | VAMP7 | P51809 | 415 |
| RAB2B | VPS39 | Q96JC1 | 393 |
| RAB2B | RNF212B | A8MTL3 | 359 |
| RAB2B | OCEL1 | Q9H607 | 351 |
| RAB2B | TBC1D20 | Q96BZ9 | 338 |
| RAB2B | TSG101 | Q99816 | 335 |
| RAB2B | OR10G3 | Q8NGC4 | 334 |
| RAB2B | OR10G2 | Q8NGC3 | 330 |
| RAB2B | FCF1 | Q9Y324 | 329 |
| RAB2B | CD63 | P08962 | 324 |
| RAB2B | SDCBP | O00560 | 312 |
IntAct
111 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM114A1 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.780 |
| RAB2B | FAM114A1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| GARIN6 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB2B | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| BLZF1 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA2 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB2B | GARIN6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB2B | BLZF1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ICA1 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.670 |
| GARIN1A | RAB2A | psi-mi:“MI:0914”(association) | 0.670 |
| RAB2B | ICA1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GARIN1A | RAB2B | psi-mi:“MI:0915”(physical association) | 0.670 |
| RAB2B | ADAMTSL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADAMTSL4 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | RAB2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB2B | VRTN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB2B | FAM114A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (106): RAB2B (Two-hybrid), RAB2B (Two-hybrid), RAB2B (Two-hybrid), RAB2B (Two-hybrid), FAM114A1 (Two-hybrid), FAM71C (Two-hybrid), RAB2B (Two-hybrid), RAB2B (Affinity Capture-MS), RAB2A (Affinity Capture-MS), GDI1 (Affinity Capture-MS), RAB5B (Affinity Capture-MS), RAB14 (Affinity Capture-MS), PRUNE (Affinity Capture-MS), RAB4A (Affinity Capture-MS), RAB9A (Affinity Capture-MS)
ESM2 similar proteins: O01803, O04486, O18333, O23561, O49513, P05712, P17610, P25766, P36409, P36863, P40393, P49103, P49104, P53994, P59279, P61019, P61105, P61106, P61107, P92963, Q01111, Q01971, Q05975, Q1PEX3, Q38922, Q39434, Q39570, Q39572, Q40193, Q40194, Q40195, Q40521, Q40523, Q40723, Q4R4X6, Q52NJ6, Q5R6B6, Q5R8Z8, Q5ZKU5, Q8WUD1
Diamond homologs: A1DZY4, A6QP66, A8NU18, C4YKT4, O08989, O14807, O35929, O88667, O93856, O94363, P01119, P03967, P08645, P08647, P0CY32, P10114, P10536, P11233, P11234, P15064, P17609, P22124, P22126, P22278, P22279, P22280, P28775, P32254, P36860, P36863, P48555, P59279, P61105, P61225, P61226, P61227, P62070, P62071, P63320, P63321
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1246 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:21462344:TCTTA:T | donor_loss | 1.0000 |
| 14:21462345:CTTA:C | donor_loss | 1.0000 |
| 14:21462346:TTA:T | donor_loss | 1.0000 |
| 14:21462347:TAC:T | donor_loss | 1.0000 |
| 14:21462348:ACCTC:A | donor_loss | 1.0000 |
| 14:21462349:C:CA | donor_loss | 1.0000 |
| 14:21462419:C:CC | acceptor_gain | 1.0000 |
| 14:21463650:TAGTA:T | donor_loss | 1.0000 |
| 14:21463651:AGTAC:A | donor_loss | 1.0000 |
| 14:21463652:GTA:G | donor_loss | 1.0000 |
| 14:21463653:TA:T | donor_loss | 1.0000 |
| 14:21463654:A:AT | donor_loss | 1.0000 |
| 14:21463655:C:CT | donor_loss | 1.0000 |
| 14:21463655:CCT:C | donor_gain | 1.0000 |
| 14:21463765:TCA:T | acceptor_gain | 1.0000 |
| 14:21463766:CA:C | acceptor_gain | 1.0000 |
| 14:21463766:CAC:C | acceptor_gain | 1.0000 |
| 14:21463768:C:CC | acceptor_gain | 1.0000 |
| 14:21476523:CTTA:C | donor_loss | 1.0000 |
| 14:21476524:TTA:T | donor_loss | 1.0000 |
| 14:21476525:TA:T | donor_loss | 1.0000 |
| 14:21476526:A:AC | donor_gain | 1.0000 |
| 14:21476527:C:CA | donor_loss | 1.0000 |
| 14:21476527:C:CC | donor_gain | 1.0000 |
| 14:21476527:CCT:C | donor_gain | 1.0000 |
| 14:21476527:CCTA:C | donor_gain | 1.0000 |
| 14:21476527:CCTAT:C | donor_gain | 1.0000 |
| 14:21462416:GGC:G | acceptor_gain | 0.9900 |
| 14:21462417:GC:G | acceptor_gain | 0.9900 |
| 14:21462418:CC:C | acceptor_gain | 0.9900 |
AlphaMissense
1415 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:21462402:G:T | A164D | 1.000 |
| 14:21462413:G:C | F160L | 1.000 |
| 14:21462413:G:T | F160L | 1.000 |
| 14:21462415:A:G | F160L | 1.000 |
| 14:21463681:G:T | A150D | 1.000 |
| 14:21463717:G:T | A138D | 1.000 |
| 14:21468359:C:A | K120N | 1.000 |
| 14:21468359:C:G | K120N | 1.000 |
| 14:21468361:T:C | K120E | 1.000 |
| 14:21468366:C:T | G118E | 1.000 |
| 14:21468367:C:A | G118W | 1.000 |
| 14:21468419:C:A | W100C | 1.000 |
| 14:21468419:C:G | W100C | 1.000 |
| 14:21468421:A:G | W100R | 1.000 |
| 14:21468421:A:T | W100R | 1.000 |
| 14:21468688:A:G | L84P | 1.000 |
| 14:21468691:A:G | L83P | 1.000 |
| 14:21468697:C:T | G81E | 1.000 |
| 14:21468709:C:A | R77M | 1.000 |
| 14:21468727:A:T | I71N | 1.000 |
| 14:21468735:G:C | F68L | 1.000 |
| 14:21468735:G:T | F68L | 1.000 |
| 14:21468736:A:C | F68C | 1.000 |
| 14:21468737:A:G | F68L | 1.000 |
| 14:21468737:A:T | F68I | 1.000 |
| 14:21468748:C:A | G64V | 1.000 |
| 14:21468748:C:T | G64E | 1.000 |
| 14:21468749:C:A | G64W | 1.000 |
| 14:21468749:C:G | G64R | 1.000 |
| 14:21468749:C:T | G64R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000014645 (14:21467467 A>G,T), RS1000061699 (14:21462571 G>A), RS1000075727 (14:21473419 C>T), RS1000421889 (14:21478885 C>T), RS1000616826 (14:21469005 T>C), RS1000708603 (14:21470869 A>G), RS1001026487 (14:21474260 T>A), RS1001090633 (14:21476397 T>C), RS1001294350 (14:21476608 G>A,C), RS1001326281 (14:21463224 C>T), RS1001568849 (14:21470101 C>T), RS1001717193 (14:21463717 G>A), RS1002015301 (14:21458643 AT>A), RS1002027231 (14:21475823 C>A,G), RS1002080986 (14:21476020 T>C)
Disease associations
OMIM: gene MIM:607466 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008839_536 | Height | 1.000000e-26 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| ochratoxin B | affects binding | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzene | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Urethane | increases expression | 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.