RAB24
gene geneOn this page
Summary
RAB24 (RAB24, member RAS oncogene family, HGNC:9765) is a protein-coding gene on chromosome 5q35.3, encoding Ras-related protein Rab-24 (Q969Q5). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).
Source: NCBI Gene 53917 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 5 total
- MANE Select transcript:
NM_001031677
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9765 |
| Approved symbol | RAB24 |
| Name | RAB24, member RAS oncogene family |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000169228 |
| Ensembl biotype | protein_coding |
| OMIM | 612415 |
| Entrez | 53917 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 5 retained_intron
ENST00000303251, ENST00000303270, ENST00000393610, ENST00000393611, ENST00000471466, ENST00000478234, ENST00000495458, ENST00000504395, ENST00000512758, ENST00000889061, ENST00000921245, ENST00000946229
RefSeq mRNA: 2 — MANE Select: NM_001031677
NM_001031677, NM_130781
CCDS: CCDS34300
Canonical transcript exons
ENST00000303251 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001408244 | 177301198 | 177301807 |
| ENSE00001829843 | 177303172 | 177303719 |
| ENSE00003476005 | 177302752 | 177302830 |
| ENSE00003496636 | 177301925 | 177301987 |
| ENSE00003510373 | 177303009 | 177303077 |
| ENSE00003604684 | 177302577 | 177302644 |
| ENSE00003638446 | 177302397 | 177302496 |
| ENSE00003640949 | 177302128 | 177302178 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 98.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6751 / max 196.1752, expressed in 1798 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65070 | 12.3288 | 1798 |
| 65071 | 0.5929 | 367 |
| 65069 | 0.4557 | 169 |
| 65068 | 0.1515 | 55 |
| 65067 | 0.1461 | 60 |
Top tissues by expression
140 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.42 | gold quality |
| monocyte | CL:0000576 | 97.81 | gold quality |
| blood | UBERON:0000178 | 97.58 | gold quality |
| leukocyte | CL:0000738 | 97.51 | gold quality |
| spleen | UBERON:0002106 | 96.18 | gold quality |
| body of pancreas | UBERON:0001150 | 96.08 | gold quality |
| pituitary gland | UBERON:0000007 | 95.69 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.60 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.92 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.62 | gold quality |
| cerebellum | UBERON:0002037 | 94.55 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.05 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.93 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.75 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.58 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.57 | gold quality |
| pancreas | UBERON:0001264 | 93.37 | gold quality |
| frontal cortex | UBERON:0001870 | 93.31 | gold quality |
| zone of skin | UBERON:0000014 | 93.22 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.19 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.13 | gold quality |
| skin of leg | UBERON:0001511 | 93.11 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.09 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.02 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.94 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.94 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
13 targeting RAB24, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-4751 | 98.80 | 64.95 | 525 |
| HSA-MIR-3166 | 98.24 | 66.63 | 1223 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
| HSA-MIR-6854-5P | 96.77 | 65.96 | 848 |
Literature-anchored findings (GeneRIF, showing 3)
- Rab24 modulates several mitotic events, including chromosome segregation and cytokinesis, perhaps through the interaction with microtubules (PMID:23387408)
- Our work provides new insights into the molecular function of Rab24 in the last steps of the endosomal degradative pathway. (PMID:27550070)
- Hepatic Rab24 controls blood glucose homeostasis via improving mitochondrial plasticity. (PMID:32694843)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rab24 | ENSDARG00000054032 |
| mus_musculus | Rab24 | ENSMUSG00000034789 |
| rattus_norvegicus | Rab24 | ENSRNOG00000016539 |
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-24 — Q969Q5 (reviewed: Q969Q5)
All UniProt accessions (3): Q969Q5, D6RFW3, F8W8H5
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. RAB24 is an atypical RAB protein that presents low GTPase activity and thereby exists predominantly in the GTP-bound active state. RAB24 is required for the clearance of late autophagic vacuoles under basal conditions. It is not needed for starvation-induced autophagy. Involved in the modulation of meiotic apparatus assembly and meiotic progression during oocyte maturation, possibly through regulation of kinetochore-microtubule interaction.
Subunit / interactions. Interacts with ZFYVE20. Does not interact with the GDP dissociation inhibitors ARHGDIA and ARHGDIB.
Subcellular location. Cytoplasm. Cytosol. Membrane. Cytoplasmic vesicle. Autophagosome membrane. Perinuclear region. Cytoskeleton. Spindle.
Post-translational modifications. Prenylated; prenylation is required for RAB24 localization to autophagosomes. Isoprenylation is inefficient compared to other Rab family members. Phosphorylated at Tyr-17 and Tyr-172. Cytosolic pool of RAB24 is more phosphorylated than the membrane-associated pool.
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).
Domain organisation. Switch I, switch II 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 drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Induction. By extensive retinoic acid treatment, in Ntera-2 teratoma cell line induced to differentiate into postmitotic neurons (NTN2) (at protein level).
Miscellaneous. The unusual Ser-67, instead of a conserved Gln in other family members, is the cause of low GTPase activity. As a result, the predominant nucleotide associated with the protein is GTP.
Similarity. Belongs to the small GTPase superfamily. Rab family.
RefSeq proteins (2): NP_001026847, NP_570137 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR041828 | Rab24 | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (21 total): binding site 11, sequence conflict 3, region of interest 2, modified residue 2, lipid moiety-binding region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969Q5-F1 | 89.20 | 0.74 |
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 (11): 66; 121; 123; 156; 19; 20; 21; 21; 40; 40; 63
Post-translational modifications (4): 17, 172, 200, 201
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 151 (showing top):
ATF_B, RNGTGGGC_UNKNOWN, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_CHROMOSOME_LOCALIZATION, GOBP_OOGENESIS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, CAGCTG_AP4_Q5, CREB_Q4, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_ORGANELLE_FISSION, GOBP_CELL_MATURATION
GO Biological Process (6): oocyte maturation (GO:0001556), intracellular protein transport (GO:0006886), autophagy (GO:0006914), attachment of spindle microtubules to kinetochore (GO:0008608), meiotic nuclear division (GO:0140013), protein transport (GO:0015031)
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 (16): autophagosome membrane (GO:0000421), mitochondrion (GO:0005739), endosome (GO:0005768), autophagosome (GO:0005776), spindle (GO:0005819), cytosol (GO:0005829), plasma membrane (GO:0005886), endomembrane system (GO:0012505), endocytic vesicle (GO:0030139), secretory granule membrane (GO:0030667), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), organelle membrane (GO:0031090), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cytoplasm | 4 |
| intracellular protein localization | 2 |
| cytoplasmic vesicle | 2 |
| vacuole | 2 |
| intracellular membraneless organelle | 2 |
| membrane | 2 |
| developmental process involved in reproduction | 1 |
| cell maturation | 1 |
| oocyte development | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| microtubule binding | 1 |
| cell cycle process | 1 |
| metaphase chromosome alignment | 1 |
| nuclear division | 1 |
| meiotic cell cycle | 1 |
| meiotic cell cycle process | 1 |
| transport | 1 |
| establishment of protein localization | 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 |
| vacuolar membrane | 1 |
| autophagosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| endomembrane system | 1 |
| microtubule cytoskeleton | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1330 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB24 | GABARAP | O95166 | 654 |
| RAB24 | RBSN | Q9H1K0 | 588 |
| RAB24 | ATG4C | Q96DT6 | 557 |
| RAB24 | ATG7 | O95352 | 527 |
| RAB24 | SMCR8 | Q8TEV9 | 522 |
| RAB24 | ATG16L2 | Q8NAA4 | 511 |
| RAB24 | BECN1 | Q14457 | 510 |
| RAB24 | LAMP2 | P13473 | 494 |
| RAB24 | SEL1L | Q9UBV2 | 493 |
| RAB24 | NR3C1 | P04150 | 490 |
| RAB24 | RABL3 | Q5HYI8 | 458 |
| RAB24 | HSPA4 | P34932 | 454 |
| RAB24 | ATG16L1 | Q676U5 | 449 |
| RAB24 | ATG5 | Q9H1Y0 | 448 |
| RAB24 | ATG4D | Q86TL0 | 442 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| RAB24 | GDI2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| GAMT | RAB24 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN5 | TOMM40 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB24 | SMCR8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| COQ9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB24 | KRT36 | psi-mi:“MI:0914”(association) | 0.350 |
| GDI1 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| GDI2 | SGTA | psi-mi:“MI:0914”(association) | 0.350 |
| FIS1 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| GDI1 | NADK | psi-mi:“MI:0914”(association) | 0.350 |
| LYRM4 | UBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB24 | UBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB24 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| MTCH2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A2 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC38A8 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SPNS1 | ACADS | psi-mi:“MI:0914”(association) | 0.350 |
| BIN1 | RAB24 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GAMT | RAB24 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (45): RAB24 (Affinity Capture-MS), RAB24 (Affinity Capture-MS), RAB24 (Protein-RNA), RAB24 (Two-hybrid), RAB24 (Affinity Capture-MS), RAB24 (Proximity Label-MS), RAB24 (Proximity Label-MS), RAB24 (Proximity Label-MS), RAB24 (Affinity Capture-MS), ELP2 (Affinity Capture-MS), RAB24 (Affinity Capture-MS), RAB24 (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), UBA1 (Affinity Capture-MS), CHML (Affinity Capture-MS)
ESM2 similar proteins: A2VE14, A5D9H7, B2GV54, B9EKX1, D0RB01, F1M625, F1NBL0, O35684, O54760, O54761, O60242, O60656, O75317, P13591, P31836, P35237, P35290, P62068, P62069, P69849, Q3UQ28, Q3ZCW2, Q4R3G2, Q5JPE7, Q5NVN7, Q5R5K6, Q5R899, Q5RBQ4, Q5RKN4, Q5T4D3, Q5VU57, Q5ZHQ2, Q5ZIN0, Q6ZW05, Q80ZF8, Q8BLF1, Q8BUV3, Q90935, Q90W79, Q969Q5
Diamond homologs: A6QR46, C8VQY7, M0RC99, O01803, O04486, O18334, O80501, P11620, P17608, P17610, P18066, P20339, P20340, P25228, P25766, P29687, P31582, P31583, P34142, P34143, P34213, P35278, P35279, P35282, P35285, P35286, P35290, P35292, P35294, P36017, P36018, P36019, P36586, P41925, P51147, P51148, P51153, P51154, P51996, P55745
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
5 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1253 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:177302395:A:AC | donor_gain | 1.0000 |
| 5:177302396:C:CC | donor_gain | 1.0000 |
| 5:177302396:CTGT:C | donor_gain | 1.0000 |
| 5:177302406:A:AC | donor_gain | 1.0000 |
| 5:177302417:T:TA | donor_gain | 1.0000 |
| 5:177302492:CAGCC:C | acceptor_gain | 1.0000 |
| 5:177302495:CC:C | acceptor_gain | 1.0000 |
| 5:177302496:CC:C | acceptor_gain | 1.0000 |
| 5:177302496:CCTGA:C | acceptor_loss | 1.0000 |
| 5:177302497:C:CG | acceptor_loss | 1.0000 |
| 5:177302654:CGGCA:C | acceptor_gain | 1.0000 |
| 5:177302655:G:T | acceptor_gain | 1.0000 |
| 5:177302657:C:CT | acceptor_gain | 1.0000 |
| 5:177302658:A:AC | acceptor_gain | 1.0000 |
| 5:177302658:A:C | acceptor_gain | 1.0000 |
| 5:177302661:C:CT | acceptor_gain | 1.0000 |
| 5:177303003:ACTT:A | donor_loss | 1.0000 |
| 5:177303005:TTA:T | donor_loss | 1.0000 |
| 5:177303006:T:TG | donor_loss | 1.0000 |
| 5:177303007:A:AC | donor_gain | 1.0000 |
| 5:177303007:AC:A | donor_gain | 1.0000 |
| 5:177303008:C:CC | donor_gain | 1.0000 |
| 5:177303008:CC:C | donor_gain | 1.0000 |
| 5:177303074:TGGT:T | acceptor_gain | 1.0000 |
| 5:177303075:GGTCT:G | acceptor_loss | 1.0000 |
| 5:177303077:TCTGC:T | acceptor_loss | 1.0000 |
| 5:177303078:C:CC | acceptor_gain | 1.0000 |
| 5:177303078:CTG:C | acceptor_loss | 1.0000 |
| 5:177303079:T:G | acceptor_loss | 1.0000 |
| 5:177303084:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
1343 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:177302756:G:C | C87W | 1.000 |
| 5:177302829:T:A | D63V | 1.000 |
| 5:177302829:T:C | D63G | 1.000 |
| 5:177302829:T:G | D63A | 1.000 |
| 5:177302830:C:G | D63H | 1.000 |
| 5:177303011:A:G | W62R | 1.000 |
| 5:177303011:A:T | W62R | 1.000 |
| 5:177303060:G:C | F45L | 1.000 |
| 5:177303060:G:T | F45L | 1.000 |
| 5:177303062:A:G | F45L | 1.000 |
| 5:177303227:G:A | T21I | 1.000 |
| 5:177302147:G:C | S155R | 0.999 |
| 5:177302147:G:T | S155R | 0.999 |
| 5:177302149:T:G | S155R | 0.999 |
| 5:177302151:G:A | S154F | 0.999 |
| 5:177302467:C:A | K121N | 0.999 |
| 5:177302467:C:G | K121N | 0.999 |
| 5:177302474:C:T | G119D | 0.999 |
| 5:177302476:A:C | C118W | 0.999 |
| 5:177302477:C:T | C118Y | 0.999 |
| 5:177302478:A:G | C118R | 0.999 |
| 5:177302757:C:T | C87Y | 0.999 |
| 5:177302758:A:G | C87R | 0.999 |
| 5:177302760:A:T | V86D | 0.999 |
| 5:177302766:G:T | A84D | 0.999 |
| 5:177302820:C:T | G66D | 0.999 |
| 5:177302821:C:A | G66C | 0.999 |
| 5:177302821:C:G | G66R | 0.999 |
| 5:177302828:G:C | D63E | 0.999 |
| 5:177302828:G:T | D63E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000945330 (5:177303274 G>A,T), RS1001397878 (5:177302923 G>A,C), RS1001998859 (5:177301298 T>A,C,G), RS1002825693 (5:177304318 G>A), RS1003185797 (5:177304838 C>T), RS1005115063 (5:177303617 C>A,G,T), RS1005474200 (5:177303724 A>G), RS1006074211 (5:177302341 T>C), RS1006386330 (5:177303905 G>A,C,T), RS1007621991 (5:177305174 G>A), RS1008296955 (5:177302393 C>G), RS1008634203 (5:177303752 G>A,C), RS1009299043 (5:177301067 C>T), RS1010266450 (5:177304610 C>T), RS1010648481 (5:177304297 G>A,T)
Disease associations
OMIM: gene MIM:612415 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_15 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_13 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-07 |
| GCST005962_42 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
| GCST007293_138 | Body fat distribution (arm fat ratio) | 1.000000e-08 |
| GCST007293_79 | Body fat distribution (arm fat ratio) | 2.000000e-11 |
| GCST007293_97 | Body fat distribution (arm fat ratio) | 2.000000e-10 |
| GCST007294_102 | Body fat distribution (trunk fat ratio) | 2.000000e-10 |
| GCST007294_155 | Body fat distribution (trunk fat ratio) | 4.000000e-09 |
| GCST007485_3 | Anthropometric traits | 3.000000e-67 |
| GCST007490_8 | Anthropometric traits (multi-trait analysis) | 2.000000e-36 |
| GCST007640_1 | Narrowest width of the femoral neck | 2.000000e-08 |
| GCST90020029_1507 | Waist circumference adjusted for body mass index | 6.000000e-12 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004341 | body fat distribution |
| EFO:0004324 | body weights and measures |
| EFO:0004511 | femoral neck bone geometry |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| mitomycin C-DNA adduct | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Mustard Gas | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenolsulfonphthalein | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Urethane | decreases 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.