RAB17

Summary

RAB17 (RAB17, member RAS oncogene family, HGNC:16523) is a protein-coding gene on chromosome 2q37.3, encoding Ras-related protein Rab-17 (Q9H0T7). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).

Source: NCBI Gene 64284 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_022449

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16523
Approved symbol	RAB17
Name	RAB17, member RAS oncogene family
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000124839
Ensembl biotype	protein_coding
OMIM	602206
Entrez	64284

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000264601, ENST00000392001, ENST00000409576, ENST00000409822, ENST00000411462, ENST00000414278, ENST00000416106, ENST00000430445, ENST00000466244, ENST00000477149, ENST00000487008, ENST00000904315, ENST00000904316, ENST00000904317, ENST00000938878, ENST00000949675

RefSeq mRNA: 1 — MANE Select: NM_022449 NM_022449

CCDS: CCDS2520

Canonical transcript exons

ENST00000264601 — 6 exons

Exon	Start	End
ENSE00001805431	237590467	237590734
ENSE00003524245	237577257	237577382
ENSE00003576731	237575387	237575480
ENSE00003607085	237574326	237575128
ENSE00003639944	237585998	237586157
ENSE00003675441	237578004	237578155

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 98.44.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5375 / max 141.1312, expressed in 375 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34731	1.1059	305
34730	1.0273	281
34729	0.3090	116
34727	0.0407	17
34728	0.0287	16
202624	0.0165	6
34733	0.0094	3

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.44	gold quality
metanephros cortex	UBERON:0010533	98.21	gold quality
renal medulla	UBERON:0000362	96.50	gold quality
body of pancreas	UBERON:0001150	96.22	gold quality
left lobe of thyroid gland	UBERON:0001120	96.11	gold quality
right lobe of thyroid gland	UBERON:0001119	95.97	gold quality
adult mammalian kidney	UBERON:0000082	95.71	gold quality
thyroid gland	UBERON:0002046	94.86	gold quality
mucosa of transverse colon	UBERON:0004991	94.70	gold quality
right uterine tube	UBERON:0001302	94.61	gold quality
ileal mucosa	UBERON:0000331	94.48	gold quality
liver	UBERON:0002107	94.46	gold quality
jejunal mucosa	UBERON:0000399	93.87	gold quality
duodenum	UBERON:0002114	93.75	gold quality
right lung	UBERON:0002167	92.73	gold quality
pancreas	UBERON:0001264	92.06	gold quality
upper lobe of left lung	UBERON:0008952	91.59	gold quality
body of stomach	UBERON:0001161	91.06	gold quality
upper lobe of lung	UBERON:0008948	90.88	gold quality
minor salivary gland	UBERON:0001830	90.44	gold quality
saliva-secreting gland	UBERON:0001044	90.11	gold quality
kidney	UBERON:0002113	90.10	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.96	gold quality
small intestine	UBERON:0002108	89.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.08	gold quality
rectum	UBERON:0001052	88.71	gold quality
stomach	UBERON:0000945	88.46	gold quality
cortex of kidney	UBERON:0001225	87.97	gold quality
gall bladder	UBERON:0002110	87.81	gold quality
islet of Langerhans	UBERON:0000006	87.74	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	16.04
E-ANND-3	yes	12.17
E-MTAB-8271	yes	7.77
E-HCAD-31	no	2.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting RAB17, 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-4775	99.98	75.00	6394
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-412-3P	98.86	66.89	712
HSA-MIR-6754-3P	98.84	66.60	889
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-338-3P	98.14	67.38	1137
HSA-MIR-197-3P	98.09	69.23	1004
HSA-MIR-4443	98.02	66.25	1928

Literature-anchored findings (GeneRIF, showing 10)

• Data reveal new functions for recycling endosomes and Rab17 in pigmentation through a distal step in the process of melanosome release via filopodia. (PMID:21291502)
• Knockdown of either Rab17 or liprin-beta2 restores invasiveness of ERK2-depleted cells, indicating that ERK2 drives invasion of MDA-MB-231 cells by suppressing expression of these genes. (PMID:22328529)
• These results suggest that Rab17 and Rab17-mediated REs are involved in Streptococcus pyogenes-containing autophagosome-like vacuole formation. (PMID:25052408)
• Rab17 might act as a tumour suppressor gene in hepatocellular carcinoma , and the anti-tumour effects of Rab17 might be partially mediated by the Erk pathway. (PMID:25707355)
• Down-regulation of Rab17 promotes tumourigenic properties of hepatocellular carcinoma cells via Erk MAPK signaling. (PMID:26191189)
• Mass spectrometry and immunofluorescence microscopy of efferosomes and phagosomes in macrophages demonstrated that efferosomes lacked the proteins required for antigen presentation and instead recruited the recycling regulator Rab17. (PMID:28005073)
• Rab17 is rapidly recruited to efferosomes, followed by migration of the efferosome to the cell center where it intermixes with lysosomes and undergoes Rab17-dependent vesiculation. (PMID:28471261)
• Downregulation of Rab17 promotes cell proliferation and invasion in non-small cell lung cancer through STAT3/HIF-1alpha/VEGF signaling. (PMID:31841274)
• ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes. (PMID:31959474)
• RAB17 promotes endometrial cancer progression by inhibiting TFRC-dependent ferroptosis. (PMID:39242574)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rab17	ENSMUSG00000026304
rattus_norvegicus	Rab17	ENSRNOG00000052979

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), RAB2B (ENSG00000129472), 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-17 — Q9H0T7 (reviewed: Q9H0T7)

All UniProt accessions (6): Q9H0T7, B8ZZM5, C9J0T6, F8WAG1, F8WBE9, H7C1P7

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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB17 is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post-endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development. May also play a role in cell migration.

Subcellular location. Recycling endosome membrane. Melanosome. Cell projection. Dendrite.

Tissue specificity. Expressed in melanocytes (at protein level).

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 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 drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

Induction. Up-regulated by forskolin probably through the transcription factor MITF.

Similarity. Belongs to the small GTPase superfamily. Rab family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H0T7-1	1	yes
Q9H0T7-2	2

RefSeq proteins (1): NP_071894* (*=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

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (23 total): binding site 12, sequence variant 3, short sequence motif 2, lipid moiety-binding region 2, chain 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0T7-F1	85.80	0.62

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 (12): 76; 132; 133; 135; 163; 31; 32; 33; 33; 50; 50; 73

Post-translational modifications (3): 29, 209, 210

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 148 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_DENDRITE_DEVELOPMENT, GOBP_PIGMENT_GRANULE_LOCALIZATION, GOBP_AXO_DENDRITIC_TRANSPORT, YANG_BREAST_CANCER_ESR1_LASER_UP, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_SYNAPSE_ASSEMBLY, GOBP_CELLULAR_PIGMENTATION, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE

GO Biological Process (14): immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415), intracellular protein transport (GO:0006886), establishment of melanosome localization (GO:0032401), melanosome transport (GO:0032402), endocytic recycling (GO:0032456), transcytosis (GO:0045056), filopodium assembly (GO:0046847), regulation of dendrite development (GO:0050773), regulation of filopodium assembly (GO:0051489), regulation of synapse assembly (GO:0051963), cilium assembly (GO:0060271), anterograde dendritic transport (GO:0098937), protein transport (GO:0015031), plasma membrane bounded cell projection assembly (GO:0120031)

GO Molecular Function (8): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (19): early endosome (GO:0005769), plasma membrane (GO:0005886), endomembrane system (GO:0012505), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), endocytic vesicle (GO:0030139), dendrite (GO:0030425), dendrite cytoplasm (GO:0032839), melanosome (GO:0042470), neuronal cell body (GO:0043025), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

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
cellular anatomical structure	4
intracellular protein localization	2
melanosome localization	2
plasma membrane bounded cell projection assembly	2
guanyl ribonucleotide binding	2
endosome	2
plasma membrane region	2
cytoplasmic vesicle	2
synapse	2
mucosal immune response	1
immunoglobulin transcytosis in epithelial cells	1
protein transport	1
intracellular transport	1
establishment of pigment granule localization	1
establishment of melanosome localization	1
pigment granule transport	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
vesicle-mediated transport	1
multicellular organismal process	1
regulation of neuron projection development	1
dendrite development	1
regulation of developmental process	1
filopodium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
synapse assembly	1
regulation of synapse organization	1
regulation of cell junction assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
ciliary transition zone assembly	1
dendrite cytoplasm	1
dendritic transport	1
transport	1
establishment of protein localization	1
cell projection assembly	1

Protein interactions and networks

STRING

1140 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB17	NUDT3	O95989	670
RAB17	RABGEF1	Q9UJ41	575
RAB17	TBC1D7	Q9P0N9	488
RAB17	RABEP1	Q15276	485
RAB17	EEA1	Q15075	471
RAB17	STX6	O43752	462
RAB17	CHMP6	Q96FZ7	447
RAB17	ZNF239	Q16600	418
RAB17	MLPH	Q9BV36	400
RAB17	RAB3IP	Q96QF0	387
RAB17	AGFG1	P52594	373
RAB17	GAPVD1	Q14C86	368
RAB17	RBSN	Q9H1K0	359
RAB17	TBC1D30	Q9Y2I9	358
RAB17	ANO1	Q5XXA6	353

IntAct

20 interactions, top by confidence:

A	B	Type	Score
MAGEA1	RAB17	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	RAB17	psi-mi:“MI:0915”(physical association)	0.560
RAB17	CSTPP1	psi-mi:“MI:0915”(physical association)	0.560
RAB17	MAGEA1	psi-mi:“MI:0915”(physical association)	0.560
RAB17	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
CSTPP1	RAB17	psi-mi:“MI:0915”(physical association)	0.560
BOLA3	RAB17	psi-mi:“MI:0915”(physical association)	0.560
RAB17	GTPBP1	psi-mi:“MI:0914”(association)	0.530
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CLEC12A	GAPDHS	psi-mi:“MI:0914”(association)	0.350
RAB17	CHMP6	psi-mi:“MI:0915”(physical association)	0.000
BOLA3	RAB17	psi-mi:“MI:0915”(physical association)	0.000
RAB17	NUDT3	psi-mi:“MI:0915”(physical association)	0.000
S100A8	RAB17	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): RAB17 (Two-hybrid), C11orf49 (Two-hybrid), FAM9B (Two-hybrid), CHML (Affinity Capture-MS), CHM (Affinity Capture-MS), MOCS1 (Affinity Capture-MS), GEMIN6 (Affinity Capture-MS), GTPBP1 (Affinity Capture-MS), RABGGTB (Affinity Capture-MS), CHM (Affinity Capture-MS), CHML (Affinity Capture-MS), MOCS1 (Affinity Capture-MS), BOLA1 (Affinity Capture-MS), GTPBP1 (Affinity Capture-MS), GEMIN6 (Affinity Capture-MS)

ESM2 similar proteins: E2RQ15, M0RC99, P10948, P18066, P20337, P20339, P24408, P35278, P35283, P35284, P35289, P35292, P46629, P51146, P51147, P51148, P57735, P59190, P61017, P61018, P61020, P61021, P61271, P97950, Q06AU6, Q0IIG7, Q0ILQ6, Q0PD08, Q14088, Q1RMR4, Q32NQ0, Q40520, Q53B90, Q58DS9, Q58DW6, Q5R4W9, Q5R7L7, Q5RBG1, Q5ZHW4, Q6IQ22

Diamond homologs: A6QR46, M0RC99, O01803, O04486, O18334, O35509, P10536, P16976, P17608, P17610, P18066, P20339, P20340, P22125, P22129, P25766, P28185, P28188, P29687, P31582, P31583, P31584, P34140, P34213, P35278, P35279, P35282, P35285, P35292, P36017, P36018, P36019, P36586, P38555, P40392, P46638, P51147, P51148, P51154, P55745

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

47 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1236 predictions. Top by Δscore:

Variant	Effect	Δscore
2:237577378:GAATC:G	acceptor_gain	1.0000
2:237577379:AATC:A	acceptor_gain	1.0000
2:237577379:AATCC:A	acceptor_gain	1.0000
2:237577380:ATC:A	acceptor_gain	1.0000
2:237577380:ATCCT:A	acceptor_gain	1.0000
2:237577381:TC:T	acceptor_gain	1.0000
2:237577381:TCCT:T	acceptor_gain	1.0000
2:237577382:CC:C	acceptor_gain	1.0000
2:237577382:CCTA:C	acceptor_gain	1.0000
2:237577383:C:CA	acceptor_gain	1.0000
2:237577383:C:CC	acceptor_gain	1.0000
2:237577383:C:T	acceptor_gain	1.0000
2:237577384:T:A	acceptor_gain	1.0000
2:237577998:CCCTA:C	donor_loss	1.0000
2:237577999:CCTA:C	donor_loss	1.0000
2:237578000:CTAC:C	donor_loss	1.0000
2:237578001:TA:T	donor_loss	1.0000
2:237578002:ACCT:A	donor_loss	1.0000
2:237578002:ACCTT:A	donor_gain	1.0000
2:237578003:CCTTC:C	donor_gain	1.0000
2:237578006:T:TA	donor_gain	1.0000
2:237578154:ACC:A	acceptor_loss	1.0000
2:237578155:CCT:C	acceptor_loss	1.0000
2:237578156:CTGAA:C	acceptor_loss	1.0000
2:237575386:CCCA:C	donor_gain	0.9900
2:237578151:CGCAC:C	acceptor_gain	0.9900
2:237578153:CAC:C	acceptor_gain	0.9900
2:237578157:T:C	acceptor_loss	0.9900
2:237590462:CTCA:C	donor_loss	0.9900
2:237590463:TCACC:T	donor_loss	0.9900

AlphaMissense

1388 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:237578095:T:G	D73A	0.998
2:237577293:C:A	K133N	0.996
2:237577293:C:G	K133N	0.996
2:237578096:C:G	D73H	0.996
2:237578095:T:C	D73G	0.995
2:237575464:G:T	A151D	0.993
2:237578094:G:C	D73E	0.993
2:237578094:G:T	D73E	0.993
2:237578095:T:A	D73V	0.993
2:237577295:T:C	K133E	0.992
2:237586060:T:A	K32M	0.992
2:237577294:T:G	K133T	0.991
2:237586059:C:A	K32N	0.991
2:237586059:C:G	K32N	0.991
2:237586063:C:T	G31D	0.991
2:237578099:A:G	W72R	0.990
2:237578099:A:T	W72R	0.990
2:237586023:G:C	F44L	0.990
2:237586023:G:T	F44L	0.990
2:237586025:A:G	F44L	0.990
2:237586057:G:A	S33F	0.990
2:237586061:T:G	K32Q	0.990
2:237575432:A:G	S162P	0.989
2:237578035:G:T	A93D	0.988
2:237578101:A:G	I71T	0.988
2:237578148:G:C	F55L	0.988
2:237578148:G:T	F55L	0.988
2:237578150:A:G	F55L	0.988
2:237575477:C:A	G147W	0.987
2:237577296:G:C	N132K	0.987

dbSNP variants (sampled 300 via entrez): RS1000439438 (2:237577684 C>A,T), RS1000756868 (2:237589718 T>C), RS1000831868 (2:237590367 A>G), RS1000875399 (2:237588418 A>G), RS1001027725 (2:237579090 T>C), RS1001095544 (2:237579585 G>C), RS1001143173 (2:237579355 C>T), RS1001390370 (2:237592716 G>A,C), RS1001460398 (2:237586886 A>G), RS1001512413 (2:237590892 G>A), RS1001552579 (2:237582261 A>T), RS1001604993 (2:237582074 G>A), RS1001764844 (2:237577245 C>T), RS1001868594 (2:237583172 T>C), RS1002304541 (2:237574153 G>C)

Disease associations

OMIM: gene MIM:602206 | 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
GCST001762_724	Obesity-related traits	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	6
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
Cyclosporine	decreases expression	3
sodium arsenite	affects methylation, decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
Particulate Matter	increases expression, increases abundance, decreases reaction	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
bisphenol A	affects expression	1
lead acetate	decreases expression	1
tris(2-butoxyethyl) phosphate	decreases expression	1
beta-lapachone	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
tanespimycin	increases expression, affects cotreatment	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
VER 155008	increases expression, affects cotreatment	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.