RHOBTB3

Summary

RHOBTB3 (Rho related BTB domain containing 3, HGNC:18757) is a protein-coding gene on chromosome 5q15, encoding Rho-related BTB domain-containing protein 3 (O94955). Rab9-regulated ATPase required for endosome to Golgi transport.

Enables ATP binding activity; ATP hydrolysis activity; and small GTPase binding activity. Involved in retrograde transport, endosome to Golgi. Located in extracellular exosome.

Source: NCBI Gene 22836 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 83 total
• MANE Select transcript: NM_014899

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18757
Approved symbol	RHOBTB3
Name	Rho related BTB domain containing 3
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0878
Ensembl gene	ENSG00000164292
Ensembl biotype	protein_coding
OMIM	607353
Entrez	22836

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000379982, ENST00000502541, ENST00000503737, ENST00000504179, ENST00000504949, ENST00000506817, ENST00000506959, ENST00000507186, ENST00000510226, ENST00000510313, ENST00000510623, ENST00000511558, ENST00000512878, ENST00000513091, ENST00000514198, ENST00000515852, ENST00000890087, ENST00000890088, ENST00000958070

RefSeq mRNA: 1 — MANE Select: NM_014899 NM_014899

CCDS: CCDS4077

Canonical transcript exons

ENST00000379982 — 12 exons

Exon	Start	End
ENSE00001083134	95783797	95783963
ENSE00001083135	95768046	95768166
ENSE00001083140	95788762	95788858
ENSE00001083144	95780252	95780425
ENSE00001083146	95763508	95763620
ENSE00001483273	95793059	95796361
ENSE00001483279	95731336	95731684
ENSE00003541748	95736889	95737075
ENSE00003568985	95731859	95732084
ENSE00003624049	95752239	95752350
ENSE00003627326	95755396	95755761
ENSE00003644586	95748333	95748487

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.9953 / max 886.8671, expressed in 1693 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57636	15.6623	1588
57634	13.2944	1486
57637	3.7036	1220
57633	3.2907	1281
57635	2.0642	1133
57638	1.9706	926
57642	0.8267	539
57639	0.6620	390
57643	0.4673	250
57641	0.2899	121

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.82	gold quality
tibia	UBERON:0000979	98.67	gold quality
pigmented layer of retina	UBERON:0001782	98.60	gold quality
parotid gland	UBERON:0001831	98.51	gold quality
calcaneal tendon	UBERON:0003701	98.45	gold quality
globus pallidus	UBERON:0001875	98.29	gold quality
medial globus pallidus	UBERON:0002477	98.27	gold quality
lateral globus pallidus	UBERON:0002476	98.16	gold quality
corpus epididymis	UBERON:0004359	98.14	gold quality
placenta	UBERON:0001987	98.07	gold quality
caput epididymis	UBERON:0004358	97.53	gold quality
stromal cell of endometrium	CL:0002255	97.49	gold quality
body of pancreas	UBERON:0001150	97.17	gold quality
corpus callosum	UBERON:0002336	97.11	gold quality
type B pancreatic cell	CL:0000169	97.03	gold quality
cauda epididymis	UBERON:0004360	97.02	gold quality
pericardium	UBERON:0002407	96.68	gold quality
left ovary	UBERON:0002119	96.61	gold quality
inferior vagus X ganglion	UBERON:0005363	96.52	gold quality
cartilage tissue	UBERON:0002418	96.46	gold quality
trigeminal ganglion	UBERON:0001675	96.44	gold quality
right ovary	UBERON:0002118	96.44	gold quality
cranial nerve II	UBERON:0000941	96.32	gold quality
subthalamic nucleus	UBERON:0001906	96.08	gold quality
ovary	UBERON:0000992	95.83	gold quality
heart right ventricle	UBERON:0002080	95.72	gold quality
postcentral gyrus	UBERON:0002581	95.60	gold quality
pancreas	UBERON:0001264	95.34	gold quality
renal medulla	UBERON:0000362	95.24	gold quality
colonic epithelium	UBERON:0000397	95.24	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-MTAB-8271	yes	994.81
E-MTAB-7008	yes	783.52
E-MTAB-8530	yes	753.83
E-CURD-84	yes	524.82
E-CURD-119	yes	53.06
E-GEOD-135922	yes	24.33
E-HCAD-5	yes	20.21
E-CURD-46	yes	19.91
E-CURD-112	yes	10.65
E-CURD-122	yes	8.57
E-HCAD-13	yes	8.35
E-MTAB-9388	yes	5.85
E-ENAD-20	no	652.68
E-MTAB-6386	no	6.03
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CUX1

miRNA regulators (miRDB)

150 targeting RHOBTB3, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753

Literature-anchored findings (GeneRIF, showing 9)

• Study reports that the atypical Rho GTPase family member, RhoBTB3, binds directly to Rab9 GTPase and functions with Rab9 in protein transport from endosomes to the trans Golgi network. (PMID:19490898)
• The interaction between RhoBTB3 and the 5-HT7a receptor strongly inhibits proteasomal degradation of the 5-HT7a receptor. (PMID:22245496)
• Reveal a novel role for a RhoBTB3 in catalyzing cyclin E turnover during S phase, as well as an unexpected, essential role for the Golgi as a ubiquitylation platform for cell cycle control. (PMID:24145166)
• RHOBTB3 serves as a scaffold to organize a multi-subunit complex that promotes the hydroxylation, ubiquitination and degradation of HIFalpha. (PMID:26215701)
• RNA Interference Screening Identifies Novel Roles for RhoBTB1 and RhoBTB3 in Membrane Trafficking Events in Mammalian Cells. (PMID:32354068)
• Circular RNA circRHOBTB3 inhibits ovarian cancer progression through PI3K/AKT signaling pathway. (PMID:32720791)
• FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma. (PMID:34416910)
• RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1. (PMID:35698915)
• NR1H4-mediated circRHOBTB3 modulates the proliferation, metastasis, and Warburg effects of cervical cancer through interacting with IGF2BP3. (PMID:36939994)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rhobtb3	ENSMUSG00000021589
rattus_norvegicus	Rhobtb3	ENSRNOG00000012414

Paralogs (22): RHOBTB2 (ENSG00000008853), RHOA (ENSG00000067560), CDC42 (ENSG00000070831), RHOBTB1 (ENSG00000072422), RHOV (ENSG00000104140), RND2 (ENSG00000108830), RND3 (ENSG00000115963), RHOU (ENSG00000116574), RHOQ (ENSG00000119729), RHOJ (ENSG00000126785), RHOT1 (ENSG00000126858), RAC2 (ENSG00000128340), RAC1 (ENSG00000136238), RHOF (ENSG00000139725), RHOT2 (ENSG00000140983), RHOB (ENSG00000143878), RHOC (ENSG00000155366), RHOH (ENSG00000168421), RAC3 (ENSG00000169750), RND1 (ENSG00000172602), RHOD (ENSG00000173156), RHOG (ENSG00000177105)

Protein

Protein identifiers

Rho-related BTB domain-containing protein 3 — O94955 (reviewed: O94955)

All UniProt accessions (10): O94955, D6R935, D6RC79, D6RG10, H0Y8R9, H0Y9A8, H0Y9P6, H0Y9R7, H0Y9W9, H0YA85

UniProt curated annotations — full annotation on UniProt →

Function. Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9.

Subunit / interactions. Interacts with RAB9A and RAB9B (at lower level compared to RAB9A-binding). Interacts with M6PRBP1/TIP47.

Subcellular location. Golgi apparatus.

Tissue specificity. Ubiquitous. Highly expressed in neural and cardiac tissues, pancreas, placenta and testis.

Domain organisation. Although predicted to be a GTP-binding protein because of the presence of a Rho-like region, binds and hydrolyzes ATP. In contrast to Rho-like proteins, the conserved Asp residue in position 138 in the G4 region is replaced by an Asn, decreasing the ability to bind GTP.

RefSeq proteins (1): NP_055714* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR001806	Small_GTPase	Family
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00071, PF00651

UniProt features (13 total): mutagenesis site 5, sequence variant 3, domain 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94955-F1	79.13	0.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (5):

Position	Phenotype
532	abolishes interaction with rab9a.
533	abolishes interaction with rab9a.
608–611	does not affect subcellular location, suggesting this protein is not prenylated.
138	abolishes atp-binding.
498	abolishes interaction with rab9a.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network
R-HSA-9706019	RHOBTB3 ATPase cycle

MSigDB gene sets: 336 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOZGIT_ESR1_TARGETS_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, KYNG_DNA_DAMAGE_DN, KYNG_DNA_DAMAGE_BY_4NQO, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, LHX3_01, GOMF_GTPASE_BINDING, STOSSI_RESPONSE_TO_ESTRADIOL, RODWELL_AGING_KIDNEY_NO_BLOOD_DN

GO Biological Process (4): male gonad development (GO:0008584), regulation of proteolysis (GO:0030162), retrograde transport, endosome to Golgi (GO:0042147), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

GO Molecular Function (9): GTPase activity (GO:0003924), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), small GTPase binding (GO:0031267), ubiquitin protein ligase binding (GO:0031625), nucleotide binding (GO:0000166), protein binding (GO:0005515), GTP binding (GO:0005525), hydrolase activity (GO:0016787)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), trans-Golgi network membrane (GO:0032588), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribonucleoside triphosphate phosphatase activity	2
purine ribonucleoside triphosphate binding	2
cellular anatomical structure	2
cytoplasm	2
gonad development	1
development of primary male sexual characteristics	1
proteolysis	1
regulation of protein metabolic process	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
adenyl ribonucleotide binding	1
ATP-dependent activity	1
GTPase binding	1
ubiquitin-like protein ligase binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
guanyl ribonucleotide binding	1
catalytic activity	1
intracellular anatomical structure	1
trans-Golgi network	1
organelle membrane	1
extracellular vesicle	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2291 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RHOBTB3	PLIN3	O60664	929
RHOBTB3	CUL3	Q13618	673
RHOBTB3	HGS	O14964	654
RHOBTB3	RAB9A	P51151	562
RHOBTB3	PCSK1	P29120	549
RHOBTB3	LIMD1	Q9UGP4	546
RHOBTB3	RAB9B	Q9NP90	539
RHOBTB3	ZNF396	Q96N95	531
RHOBTB3	RHOV	Q96L33	518
RHOBTB3	VTI1A	Q96AJ9	517
RHOBTB3	GCC2	Q8IWJ2	510
RHOBTB3	MCCC1	Q96RQ3	507
RHOBTB3	RHOD	O00212	506
RHOBTB3	DENND2A	Q9ULE3	506
RHOBTB3	RHOA	P06749	501

IntAct

135 interactions, top by confidence:

A	B	Type	Score
RHOBTB3	BHLHE40	psi-mi:“MI:0915”(physical association)	0.780
BHLHE40	RHOBTB3	psi-mi:“MI:0915”(physical association)	0.780
RHOBTB3	UBXN11	psi-mi:“MI:0915”(physical association)	0.670
RHOBTB3	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
UBXN11	RHOBTB3	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	RHOBTB3	psi-mi:“MI:0915”(physical association)	0.670
CUL3	ENC1	psi-mi:“MI:0914”(association)	0.640
RHOBTB3	L3MBTL3	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	IHO1	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	EFHC2	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	ZRANB1	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	TBX15	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	USP54	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	JPH3	psi-mi:“MI:0915”(physical association)	0.560
CUL3	RHOBTB1	psi-mi:“MI:0914”(association)	0.530
RABGGTB	PIPSL	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
CD83	BTAF1	psi-mi:“MI:0914”(association)	0.530
RHOBTB3	ARF5	psi-mi:“MI:0914”(association)	0.530
RAB9A	RHOBTB3	psi-mi:“MI:0915”(physical association)	0.530

BioGRID (146): Lrrc41 (Affinity Capture-Western), RHOBTB3 (Two-hybrid), RHOBTB3 (Two-hybrid), UBXN11 (Two-hybrid), RHOBTB3 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS), EGLN1 (Affinity Capture-Western), VHL (Affinity Capture-Western), RHOBTB3 (Affinity Capture-Western), RHOBTB3 (Reconstituted Complex), RHOBTB3 (Affinity Capture-Western)

ESM2 similar proteins: A0A3L7I2I8, A0JMZ3, A5HK05, A7MB89, A7YWD2, O60733, O75031, O94829, O94955, P0C7A6, P42694, P49754, P97570, P97819, Q05AL1, Q1LVW0, Q29RM5, Q2KI54, Q2T9K6, Q3UFS0, Q3UJZ3, Q4V890, Q5KU39, Q5R6S3, Q5R974, Q5T9G4, Q5TYQ1, Q5VZK9, Q68FK4, Q6DFV5, Q6EDY6, Q6NYU2, Q6QI06, Q6R327, Q7T3P8, Q8C0T1, Q8CEF1, Q8IUR7, Q8NFZ0, Q91W86

Diamond homologs: A0JMG1, A1L4W5, A2AAX3, A6QL63, A9JRD8, B7U179, B9DHT4, D3ZA50, D4A2K4, G3LSH3, G8GTN7, O08764, O43791, O94955, P0C7A6, P0DMR5, P0DMR6, P34568, Q08CY1, Q08DS0, Q0IHH9, Q0V9W6, Q0VCW1, Q1LVW0, Q2HW56, Q2LE78, Q2M2N2, Q3U410, Q54D84, Q5BL35, Q5NVK7, Q5TZE1, Q5U374, Q5ZJU2, Q6GQW0, Q6GR09, Q6IQ16, Q6P798, Q6P8B3, Q6YCH1

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RHOBTB3	“down-regulates quantity by destabilization”	CCNE1	binding
RHOBTB3	“up-regulates activity”	“Cullin 3-RBX1-Skp1”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	7	8.1×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
cell surface receptor signaling pathway	10	5.5×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3060 predictions. Top by Δscore:

Variant	Effect	Δscore
5:95731685:G:GG	donor_gain	1.0000
5:95732090:G:GT	donor_gain	1.0000
5:95737071:AAATG:A	donor_gain	1.0000
5:95737072:AATG:A	donor_gain	1.0000
5:95737073:ATG:A	donor_gain	1.0000
5:95737073:ATGGT:A	donor_loss	1.0000
5:95737074:TG:T	donor_gain	1.0000
5:95737075:GG:G	donor_gain	1.0000
5:95737075:GGTA:G	donor_loss	1.0000
5:95737076:G:GG	donor_gain	1.0000
5:95737077:T:A	donor_loss	1.0000
5:95748469:A:T	donor_gain	1.0000
5:95748485:GTG:G	donor_gain	1.0000
5:95763616:GAAAG:G	donor_gain	1.0000
5:95763619:AGG:A	donor_loss	1.0000
5:95763621:G:C	donor_loss	1.0000
5:95763621:G:GG	donor_gain	1.0000
5:95779148:A:G	donor_gain	1.0000
5:95783795:AGCT:A	acceptor_gain	1.0000
5:95783795:AGCTG:A	acceptor_gain	1.0000
5:95783796:GCT:G	acceptor_gain	1.0000
5:95783796:GCTG:G	acceptor_gain	1.0000
5:95783796:GCTGG:G	acceptor_gain	1.0000
5:95783959:CCAAG:C	donor_loss	1.0000
5:95783960:CAAG:C	donor_loss	1.0000
5:95783964:G:GA	donor_loss	1.0000
5:95783965:T:A	donor_loss	1.0000
5:95822451:CTCA:C	donor_loss	1.0000
5:95822452:TCACC:T	donor_loss	1.0000
5:95822453:CACCG:C	donor_loss	1.0000

AlphaMissense

4065 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:95768155:T:C	F424S	1.000
5:95780267:C:A	A433D	1.000
5:95780293:T:C	C442R	1.000
5:95793077:T:A	V580D	1.000
5:95793094:C:T	P586S	1.000
5:95732065:T:A	V70D	0.999
5:95736958:T:G	Y100D	0.999
5:95737055:C:A	A132D	0.999
5:95748384:T:A	V156D	0.999
5:95748398:G:A	G161R	0.999
5:95748398:G:C	G161R	0.999
5:95748398:G:T	G161W	0.999
5:95748435:T:C	L173P	0.999
5:95755545:A:C	S278R	0.999
5:95755547:C:A	S278R	0.999
5:95755547:C:G	S278R	0.999
5:95768154:T:C	F424L	0.999
5:95768156:C:A	F424L	0.999
5:95768156:C:G	F424L	0.999
5:95780282:T:A	L438Q	0.999
5:95780282:T:C	L438P	0.999
5:95780282:T:G	L438R	0.999
5:95780291:G:C	R441P	0.999
5:95780294:G:A	C442Y	0.999
5:95780295:T:G	C442W	0.999
5:95780402:T:C	L478P	0.999
5:95783824:T:C	L495P	0.999
5:95783832:G:C	A498P	0.999
5:95783833:C:A	A498D	0.999
5:95783857:T:C	L506P	0.999

dbSNP variants (sampled 300 via entrez): RS1000005574 (5:95785330 G>A,C), RS1000062755 (5:95736229 T>A), RS1000191075 (5:95767043 A>G), RS1000206368 (5:95749324 T>G), RS1000229478 (5:95751192 G>A), RS1000272576 (5:95743013 G>A), RS1000281154 (5:95779607 G>A,T), RS1000357858 (5:95730682 C>A), RS1000449607 (5:95743178 A>C,G), RS1000467511 (5:95762175 A>G), RS1000524509 (5:95794313 G>A), RS1000630124 (5:95718720 G>C,T), RS1000689113 (5:95725216 A>G), RS1000793382 (5:95768615 T>C), RS1000867899 (5:95718770 A>C,G)

Disease associations

OMIM: gene MIM:607353 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
methylmercuric chloride	increases expression, affects cotreatment	4
Estradiol	decreases reaction, increases expression, affects expression, affects cotreatment, decreases expression	4
trichostatin A	affects cotreatment, increases expression, decreases expression	3
Benzo(a)pyrene	affects methylation, increases methylation, increases mutagenesis	3
cobaltous chloride	decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Arsenic	increases expression, increases response to substance	2
Cisplatin	decreases expression, increases expression	2
Dexamethasone	increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tamoxifen	affects expression, affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Raloxifene Hydrochloride	affects cotreatment, increases expression, affects expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
testosterone enanthate	affects expression	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	decreases expression	1
Am 580	increases expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	increases expression	1

Clinical trials (associated diseases)

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