RAB26

Summary

RAB26 (RAB26, member RAS oncogene family, HGNC:14259) is a protein-coding gene on chromosome 16p13.3, encoding Ras-related protein Rab-26 (Q9ULW5). 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, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).

Source: NCBI Gene 25837 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 72 total
• MANE Select transcript: NM_014353

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14259
Approved symbol	RAB26
Name	RAB26, member RAS oncogene family
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000167964
Ensembl biotype	protein_coding
OMIM	605455
Entrez	25837

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000210187, ENST00000541451, ENST00000561600, ENST00000562735, ENST00000564426, ENST00000565592, ENST00000566724, ENST00000567145, ENST00000880062, ENST00000880063, ENST00000880064, ENST00000927207

RefSeq mRNA: 2 — MANE Select: NM_014353 NM_001308053, NM_014353

CCDS: CCDS10460, CCDS76806

Canonical transcript exons

ENST00000210187 — 9 exons

Exon	Start	End
ENSE00000611596	2153146	2153222
ENSE00000664996	2152989	2153045
ENSE00002603494	2153319	2154165
ENSE00003475445	2151856	2151908
ENSE00003518040	2148625	2148978
ENSE00003560457	2151695	2151761
ENSE00003583556	2149941	2150051
ENSE00003636976	2151569	2151610
ENSE00003689996	2152820	2152885

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 98.77.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8421 / max 44.8372, expressed in 343 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152197	0.5398	241
152198	0.3023	134

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.77	gold quality
cerebellar hemisphere	UBERON:0002245	98.72	gold quality
cerebellar cortex	UBERON:0002129	98.69	gold quality
cerebellum	UBERON:0002037	97.95	gold quality
cerebellar vermis	UBERON:0004720	95.77	gold quality
right frontal lobe	UBERON:0002810	95.10	gold quality
putamen	UBERON:0001874	94.44	gold quality
nucleus accumbens	UBERON:0001882	94.23	gold quality
caudate nucleus	UBERON:0001873	94.07	gold quality
anterior cingulate cortex	UBERON:0009835	93.70	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.68	gold quality
cingulate cortex	UBERON:0003027	93.67	gold quality
parotid gland	UBERON:0001831	92.66	gold quality
body of pancreas	UBERON:0001150	92.62	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.18	gold quality
prefrontal cortex	UBERON:0000451	92.13	gold quality
adenohypophysis	UBERON:0002196	92.05	gold quality
amygdala	UBERON:0001876	92.03	gold quality
pituitary gland	UBERON:0000007	91.93	gold quality
frontal cortex	UBERON:0001870	91.17	gold quality
neocortex	UBERON:0001950	90.97	gold quality
telencephalon	UBERON:0001893	90.55	gold quality
Ammon’s horn	UBERON:0001954	90.46	gold quality
cerebral cortex	UBERON:0000956	90.26	gold quality
brain	UBERON:0000955	90.13	gold quality
forebrain	UBERON:0001890	90.09	gold quality
primary visual cortex	UBERON:0002436	89.25	gold quality
endothelial cell	CL:0000115	89.05	gold quality
middle temporal gyrus	UBERON:0002771	88.47	gold quality
temporal lobe	UBERON:0001871	88.40	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.58
E-MTAB-8060	no	28.25
E-GEOD-125970	no	3.90

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BHLHA15

miRNA regulators (miRDB)

30 targeting RAB26, 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-188-3P	100.00	68.76	1240
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-4423-3P	97.98	69.66	912
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-132-5P	96.61	65.79	115
HSA-MIR-3169	96.40	67.58	698
HSA-MIR-4740-5P	96.25	67.96	726

Literature-anchored findings (GeneRIF, showing 8)

• MIST1 binds to highly conserved CATATG E-boxes to directly activate transcription of 6 genes, including those encoding the small GTPases RAB26 and RAB3D. (PMID:20038531)
• The small GTPase Rab26 regulates the Golgi to cell surface traffic of alpha(2)-adrenergic receptors, likely through a physical interaction. (PMID:23105096)
• Increased RAB26 expression causes lysosomes to coalesce in a central, perinuclear region within the cell. (PMID:24413166)
• Rab26 selectively directs synaptic and secretory vesicles into preautophagosomal structures. (PMID:25643395)
• Rab26 suppresses migration and invasion of breast cancer cells through mediating autophagic degradation of phosphorylated Src. (PMID:33731709)
• RAB26 contributes to the progression of non-small cell lung cancer after being transcriptionally activated by SMAD3. (PMID:35291909)
• ROS induced the Rab26 promoter hypermethylation to promote cigarette smoking-induced airway epithelial inflammation of COPD through activation of MAPK signaling. (PMID:36610560)
• A GCC repeat in RAB26 undergoes natural selection in human and harbors divergent genotypes in late-onset Alzheimer’s disease. (PMID:37931854)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	RAB26	ENSDARG00000104259
mus_musculus	Rab26	ENSMUSG00000079657
rattus_norvegicus	Rab26	ENSRNOG00000042086

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-26 — Q9ULW5 (reviewed: Q9ULW5)

All UniProt accessions (3): Q9ULW5, H3BMG6, H3BQ97

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. RAB26 mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane. Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach. Plays a role in the secretion of amylase from acinar granules in the parotid gland.

Subunit / interactions. Interacts with RIMS1. Interacts with ADRA2B.

Subcellular location. Golgi apparatus membrane. Cytoplasmic vesicle. Secretory vesicle membrane.

Tissue specificity. Predominantly expressed in brain.

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.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9ULW5-1	1	yes
Q9ULW5-2	2

RefSeq proteins (2): NP_001294982, NP_055168* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR050305	Small_GTPase_Rab	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (43 total): binding site 18, strand 6, helix 6, mutagenesis site 3, short sequence motif 2, lipid moiety-binding region 2, chain 1, region of interest 1, splice variant 1, sequence conflict 1, compositionally biased region 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2G6B	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULW5-F1	79.64	0.51

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 (18): 77; 77; 78; 95; 96; 96; 119; 122; 177; 178; 180; 208 …

Post-translational modifications (2): 253, 254

Mutagenesis-validated functional residues (3):

Position	Phenotype
77	inactive, constitutively gdp-bound. abolishes location at golgi membranes. impairs transport of adra2a and adra2b from t
123	constitutively activated.
177	inactive, due to loss of gnp binding. abolishes location at golgi membranes. impairs transport of adra2a and adra2b from

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 156 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, YANG_BREAST_CANCER_ESR1_LASER_UP, GOCC_SECRETORY_GRANULE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, SP1_Q2_01, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, MYOD_01, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP

GO Biological Process (6): regulation of exocytosis (GO:0017157), exocrine system development (GO:0035272), Golgi to plasma membrane protein transport (GO:0043001), regulated exocytosis (GO:0045055), regulation protein catabolic process at presynapse (GO:0140251), protein transport (GO:0015031)

GO Molecular Function (8): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GMP binding (GO:0019002), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (9): Golgi membrane (GO:0000139), endosome (GO:0005768), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), secretory granule membrane (GO:0030667), synaptic vesicle membrane (GO:0030672), membrane (GO:0016020), transport vesicle membrane (GO:0030658), 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
bounding membrane of organelle	3
exocytosis	2
guanyl ribonucleotide binding	2
endomembrane system	2
cytoplasm	2
cytoplasmic vesicle membrane	2
regulation of vesicle-mediated transport	1
regulation of secretion by cell	1
system development	1
Golgi to plasma membrane transport	1
protein transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
presynapse	1
regulation protein catabolic process at synapse	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
Golgi apparatus	1
cytoplasmic vesicle	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
secretory granule	1
synaptic vesicle	1
exocytic vesicle membrane	1
cellular anatomical structure	1
transport vesicle	1
intracellular vesicle	1

Protein interactions and networks

STRING

534 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB26	ATG16L1	Q676U5	935
RAB26	MAP1LC3B	Q9GZQ8	527
RAB26	PLEKHG5	O94827	497
RAB26	SPG11	Q96JI7	497
RAB26	RAB33B	Q9H082	459
RAB26	CHML	P26374	440
RAB26	TBC1D5	Q92609	395
RAB26	TBC1D8B	Q0IIM8	394
RAB26	SH3GL3	Q99963	394
RAB26	TBC1D25	Q3MII6	392
RAB26	CASKIN1	Q8WXD9	359
RAB26	SH3GL1	Q99961	354
RAB26	SH3GL2	Q99962	341
RAB26	BRICD5	Q6PL45	332
RAB26	SNRPB	P14678	324

IntAct

26 interactions, top by confidence:

A	B	Type	Score
RAB26	ADRA2B	psi-mi:“MI:0915”(physical association)	0.630
RAB26	ADRA2B	psi-mi:“MI:2364”(proximity)	0.630
ADRA2B	RAB26	psi-mi:“MI:0915”(physical association)	0.630
ADRA2B	RAB26	psi-mi:“MI:0407”(direct interaction)	0.630
KRT33B	RAB26	psi-mi:“MI:0915”(physical association)	0.560
OIP5	RAB26	psi-mi:“MI:0915”(physical association)	0.560
FHL5	RAB26	psi-mi:“MI:0915”(physical association)	0.560
UNKL	RAB26	psi-mi:“MI:0915”(physical association)	0.560
	RAB26	psi-mi:“MI:0915”(physical association)	0.460
RAB26		psi-mi:“MI:0403”(colocalization)	0.460
RAB26	GCH1	psi-mi:“MI:0915”(physical association)	0.370
Ppp6c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
GOLM1	RAB19	psi-mi:“MI:0914”(association)	0.350
RAB26	CHM	psi-mi:“MI:0914”(association)	0.350
RAB26	KRT33B	psi-mi:“MI:0915”(physical association)	0.000
RAB26	UNKL	psi-mi:“MI:0915”(physical association)	0.000
RAB26	OIP5	psi-mi:“MI:0915”(physical association)	0.000
RAB26	FHL5	psi-mi:“MI:0915”(physical association)	0.000
FHL5	RAB26	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): RAB26 (Affinity Capture-MS), RAB26 (Co-fractionation), RAB26 (Co-fractionation), ATG16L1 (Affinity Capture-Western), SYP (Affinity Capture-Western), RAB26 (Affinity Capture-Western), RAB26 (Affinity Capture-Western), RAB26 (Two-hybrid), RAB26 (Two-hybrid), RAB26 (Two-hybrid), RAB26 (Two-hybrid), RABGGTB (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), CHML (Affinity Capture-MS), CHM (Affinity Capture-MS)

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: A4D1S5, A4FV54, F1PTE3, O04486, O24466, O76173, P01123, P10536, P11620, P16976, P17609, P20790, P20791, P22125, P22128, P28186, P28188, P31584, P33723, P34139, P34140, P35280, P35286, P35294, P36410, P36863, P40392, P51153, P51156, P53994, P55258, P59279, P61006, P61007, P61019, P61028, P61105, P62820, P62821, P62822

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1431 predictions. Top by Δscore:

Variant	Effect	Δscore
16:2148975:CAAGG:C	donor_loss	1.0000
16:2148976:AAGGT:A	donor_loss	1.0000
16:2148978:GGT:G	donor_loss	1.0000
16:2148979:GTGA:G	donor_loss	1.0000
16:2150211:GCATA:G	donor_gain	1.0000
16:2151608:CAG:C	donor_loss	1.0000
16:2151609:AG:A	donor_loss	1.0000
16:2151610:GG:G	donor_loss	1.0000
16:2151691:GCAG:G	acceptor_loss	1.0000
16:2151692:CAGA:C	acceptor_loss	1.0000
16:2151693:A:AG	acceptor_gain	1.0000
16:2151694:G:GG	acceptor_gain	1.0000
16:2151694:GAT:G	acceptor_gain	1.0000
16:2151694:GATGT:G	acceptor_gain	1.0000
16:2151762:G:GC	donor_loss	1.0000
16:2151762:G:GG	donor_gain	1.0000
16:2151852:CCAGC:C	acceptor_loss	1.0000
16:2151853:CAGC:C	acceptor_loss	1.0000
16:2151854:A:AG	acceptor_gain	1.0000
16:2151854:AGC:A	acceptor_loss	1.0000
16:2151855:G:GG	acceptor_gain	1.0000
16:2151855:GCTCT:G	acceptor_gain	1.0000
16:2148979:G:GG	donor_gain	0.9900
16:2151561:T:TA	acceptor_gain	0.9900
16:2151568:GAAC:G	acceptor_gain	0.9900
16:2151611:G:GG	donor_gain	0.9900
16:2151760:TG:T	donor_gain	0.9900
16:2151761:GG:G	donor_gain	0.9900
16:2151847:T:TA	acceptor_gain	0.9900
16:2151851:CCCA:C	acceptor_loss	0.9900

AlphaMissense

1657 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:2151702:A:C	D119A	0.999
16:2151703:C:A	D119E	0.999
16:2151703:C:G	D119E	0.999
16:2151722:T:C	F126L	0.999
16:2151724:C:A	F126L	0.999
16:2151724:C:G	F126L	0.999
16:2149975:C:T	T77I	0.998
16:2150007:T:C	F88L	0.998
16:2150009:C:A	F88L	0.998
16:2150009:C:G	F88L	0.998
16:2151698:T:A	W118R	0.998
16:2151698:T:C	W118R	0.998
16:2151701:G:C	D119H	0.998
16:2151702:A:G	D119G	0.998
16:2151702:A:T	D119V	0.998
16:2153173:A:C	S207R	0.998
16:2153175:C:A	S207R	0.998
16:2153175:C:G	S207R	0.998
16:2149954:G:A	G70E	0.997
16:2149971:A:C	K76Q	0.997
16:2149972:A:T	K76M	0.997
16:2151722:T:A	F126I	0.997
16:2151723:T:C	F126S	0.997
16:2152885:G:C	K178N	0.997
16:2152885:G:T	K178N	0.997
16:2149954:G:T	G70V	0.996
16:2149969:G:A	G75E	0.996
16:2149969:G:T	G75V	0.996
16:2149973:G:C	K76N	0.996
16:2149973:G:T	K76N	0.996

dbSNP variants (sampled 300 via entrez): RS1000372390 (16:2154145 C>G,T), RS1000853773 (16:2150926 T>C), RS1000903550 (16:2147368 TTCTG>T), RS1001244910 (16:2153633 G>A,T), RS1001450925 (16:2149483 C>G,T), RS1001543868 (16:2149726 C>T), RS1001742059 (16:2150495 C>A,G,T), RS1002153351 (16:2150667 G>A), RS1002182708 (16:2146202 C>T), RS1002257435 (16:2152746 C>T), RS1002454795 (16:2148472 CG>C,CGG), RS1002916900 (16:2154438 T>C,G), RS1003052584 (16:2154583 G>A,T), RS1003125770 (16:2150603 G>A), RS1003149408 (16:2147215 G>A)

Disease associations

OMIM: gene MIM:605455 | 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
GCST012227_360	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	4
Estradiol	decreases expression, affects cotreatment, increases expression	3
Cyclosporine	decreases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
afuresertib	increases expression	1
chloroacetaldehyde	decreases expression	1
propionaldehyde	increases expression	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
1-nitropyrene	decreases expression	1
pentanal	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Troglitazone	decreases expression	1
Cidofovir	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1

Clinical trials (associated diseases)

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