RUFY3

Summary

RUFY3 (RUN and FYVE domain containing 3, HGNC:30285) is a protein-coding gene on chromosome 4q13.3, encoding Protein RUFY3 (Q7L099). ARL8 effector that promotes the coupling of endolysosomes to dynein-dynactin for retrograde transport along microtubules.

This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 22902 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_001037442

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30285
Approved symbol	RUFY3
Name	RUN and FYVE domain containing 3
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Aliases	RIPx, KIAA0871, Singar1, ZFYVE30
Ensembl gene	ENSG00000018189
Ensembl biotype	protein_coding
OMIM	611194
Entrez	22902

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000226328, ENST00000381006, ENST00000417478, ENST00000502653, ENST00000503025, ENST00000503876, ENST00000504805, ENST00000507333, ENST00000512103, ENST00000512331, ENST00000513593, ENST00000513597, ENST00000514898, ENST00000515442, ENST00000515479, ENST00000947599

RefSeq mRNA: 6 — MANE Select: NM_001037442 NM_001037442, NM_001130709, NM_001291993, NM_001291994, NM_001345840, NM_014961

CCDS: CCDS34001, CCDS3547, CCDS47068, CCDS75138

Canonical transcript exons

ENST00000381006 — 18 exons

Exon	Start	End
ENSE00000422477	70783091	70783183
ENSE00000422478	70784796	70784879
ENSE00000720344	70763552	70763669
ENSE00000720350	70764475	70764576
ENSE00000720355	70768538	70768661
ENSE00000720360	70773511	70773572
ENSE00000720364	70775168	70775233
ENSE00000720368	70778369	70778438
ENSE00000720380	70788806	70788973
ENSE00000850996	70721964	70722751
ENSE00001250901	70789495	70789592
ENSE00001487193	70806516	70808619
ENSE00001487201	70793785	70793904
ENSE00003464594	70802956	70802983
ENSE00003472493	70800141	70800205
ENSE00003577948	70794795	70794894
ENSE00003603020	70804348	70804416
ENSE00003613467	70762519	70762692

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.1380 / max 3093.6267, expressed in 1795 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47996	36.8580	1138
47993	9.7283	1750
47995	3.4625	695
47997	1.8425	437
47994	1.3371	823
48002	0.7108	222
48000	0.5247	192
47991	0.4467	217
47998	0.3608	106
47999	0.3576	109

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
substantia nigra pars compacta	UBERON:0001965	99.59	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.57	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.46	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.36	gold quality
entorhinal cortex	UBERON:0002728	99.35	gold quality
pons	UBERON:0000988	99.29	gold quality
lateral globus pallidus	UBERON:0002476	99.29	gold quality
postcentral gyrus	UBERON:0002581	99.29	gold quality
inferior vagus X ganglion	UBERON:0005363	99.29	gold quality
parietal lobe	UBERON:0001872	99.27	gold quality
superior vestibular nucleus	UBERON:0007227	99.25	gold quality
medulla oblongata	UBERON:0001896	99.19	gold quality
inferior olivary complex	UBERON:0002127	99.17	gold quality
ventral tegmental area	UBERON:0002691	99.11	gold quality
CA1 field of hippocampus	UBERON:0003881	99.04	gold quality
subthalamic nucleus	UBERON:0001906	99.01	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.00	gold quality
endothelial cell	CL:0000115	98.80	gold quality
middle temporal gyrus	UBERON:0002771	98.73	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.71	gold quality
cranial nerve II	UBERON:0000941	98.65	gold quality
cortical plate	UBERON:0005343	98.62	gold quality
trigeminal ganglion	UBERON:0001675	98.46	gold quality
globus pallidus	UBERON:0001875	98.44	gold quality
orbitofrontal cortex	UBERON:0004167	98.37	gold quality
medial globus pallidus	UBERON:0002477	98.25	gold quality
pituitary gland	UBERON:0000007	98.22	gold quality
superior frontal gyrus	UBERON:0002661	98.22	gold quality
right lobe of thyroid gland	UBERON:0001119	98.15	gold quality
adenohypophysis	UBERON:0002196	98.09	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	16.71
E-MTAB-6678	yes	8.23
E-HCAD-10	yes	4.49
E-ENAD-27	no	955.50
E-MTAB-7303	no	551.38
E-GEOD-137537	no	3.55
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting RUFY3, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6835-3P	99.93	70.49	2904

Literature-anchored findings (GeneRIF, showing 9)

• Rab5(Q79L) interacts with the carboxyl terminus of RUFY3 (PMID:20376209)
• these findings provide important evidence that PAK1 can positively regulate RUFY3 expression, which contribute to the metastatic potential of gastric cancer cells (PMID:25766321)
• our results uncovered a novel, unexpected regulatory function of RUFY3. We identified FOXK1 as a new RUFY3-binding protein. This study shed light on the critical role of RUFY3 in inducing EMT and in the migration and invasion phenotypes caused by abnormal FOXK1 expression. (PMID:28623323)
• HOXD9 directly associated with the RUFY3 promoter to increase the transcriptional activity of RUFY3 in gastric cancer. (PMID:31547840)
• Crystal structure of the FYCO1 RUN domain suggests possible interfaces with small GTPases. (PMID:32744243)
• RUFY3 promotes the progression of hepatocellular carcinoma through activating NF-kappaB-mediated epithelial-mesenchymal transition. (PMID:34510031)
• Low RUFY3 expression level is associated with lymph node metastasis in older women with invasive breast cancer. (PMID:35018543)
• HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover. (PMID:37797694)
• circSORBS1 inhibits lung cancer progression by sponging miR-6779-5p and directly binding RUFY3 mRNA. (PMID:38915053)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rufy3	ENSDARG00000029692
mus_musculus	Rufy3	ENSMUSG00000029291
rattus_norvegicus	Rufy3	ENSRNOG00000003428
drosophila_melanogaster	CG6051	FBGN0039492
drosophila_melanogaster	CG31064	FBGN0051064
caenorhabditis_elegans		WBGENE00003084

Paralogs (13): ZFYVE16 (ENSG00000039319), SNX29 (ENSG00000048471), ZFYVE26 (ENSG00000072121), RUNDC3B (ENSG00000105784), RUNDC3A (ENSG00000108309), PLEKHM2 (ENSG00000116786), ZFYVE28 (ENSG00000159733), ZFYVE1 (ENSG00000165861), ZFYVE19 (ENSG00000166140), PLEKHF1 (ENSG00000166289), PLEKHF2 (ENSG00000175895), RUFY1 (ENSG00000176783), RUFY2 (ENSG00000204130)

Protein

Protein identifiers

Protein RUFY3 — Q7L099 (reviewed: Q7L099)

Alternative names: RUN and FYVE domain-containing protein 3, Rap2-interacting protein x, Single axon-regulated protein

All UniProt accessions (6): Q7L099, D6RCQ1, D6REM9, D6RH24, H0Y8G6, H0Y8I0

UniProt curated annotations — full annotation on UniProt →

Function. ARL8 effector that promotes the coupling of endolysosomes to dynein-dynactin for retrograde transport along microtubules. Acts by binding both GTP-bound ARL8 and dynein-dynactin. In nonneuronal cells, promotes concentration of endolysosomes in the juxtanuclear area. In hippocampal neurons, drives retrograde transport of endolysosomes from the axon to the soma. Plays a role in the generation of neuronal polarity formation and axon growth. Implicated in the formation of a single axon by developing neurons. May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes. Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery. Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones.

Subunit / interactions. Interacts with PAK1. Interacts (via C-terminus) with Ras-related Rab-5 proteins. Interacts (via C-terminus) with Ras-related Rap-2 proteins. Interacts with PIK3CA and PIK3R1. Interacts (via N-terminus) with FSCN1; this interaction induces neuron axon development. Interacts with DBN1. Interacts (via the second coiled coil) with GTP-, but not GDP-bound ARL8A and ARL8B. Interacts with dynactin/DCTN1 and the dynein intermediate chain DYNC1I1/2. Directly interacts with DYNC1LI1.

Subcellular location. Cytoplasm. Endomembrane system. Cell projection. Invadopodium. Perikaryon. Growth cone. Filopodium. Lamellipodium. Lysosome.

Tissue specificity. Overexpressed in gastric cancer cells and tissues (at protein level).

Post-translational modifications. Phosphorylated by PAK1. Isoform 1 is partially phosphorylated.

Domain organisation. The second coiled coil domain is involved in the interaction with GTP-bound ARL8B.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7L099-1	1	yes
Q7L099-2	2
Q7L099-3	3
Q7L099-4	4

RefSeq proteins (6): NP_001032519, NP_001124181, NP_001278922, NP_001278923, NP_001332769, NP_055776 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004012	Run_dom	Domain
IPR037213	Run_dom_sf	Homologous_superfamily
IPR047334	RUN_RUFY3	Domain
IPR047335	RUFY1-3	Family

Pfam: PF02759

UniProt features (19 total): splice variant 6, modified residue 5, sequence conflict 4, coiled-coil region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L099-F1	82.05	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.

Post-translational modifications (5): 5, 12, 34, 49, 51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 327 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_NEUROGENESIS, KYNG_DNA_DAMAGE_BY_4NQO

GO Biological Process (10): actin filament organization (GO:0007015), nervous system development (GO:0007399), cell differentiation (GO:0030154), positive regulation of cell migration (GO:0030335), positive regulation of axon extension (GO:0045773), regulation of axonogenesis (GO:0050770), negative regulation of axonogenesis (GO:0050771), positive regulation of intracellular protein transport (GO:0090316), regulation of establishment of cell polarity (GO:2000114), positive regulation of retrograde axon cargo transport (GO:2001019)

GO Molecular Function (3): dynactin binding (GO:0034452), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (15): cytoplasm (GO:0005737), cytosol (GO:0005829), lamellipodium (GO:0030027), filopodium (GO:0030175), axon (GO:0030424), dendrite (GO:0030425), growth cone (GO:0030426), endolysosome (GO:0036019), neuronal cell body (GO:0043025), perikaryon (GO:0043204), lysosome (GO:0005764), endomembrane system (GO:0012505), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
axonogenesis	2
positive regulation of intracellular transport	2
neuron projection	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
system development	1
cellular developmental process	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
positive regulation of cell growth	1
regulation of axon extension	1
positive regulation of developmental growth	1
axon extension	1
positive regulation of axonogenesis	1
regulation of neuron projection development	1
regulation of anatomical structure morphogenesis	1
negative regulation of neuron projection development	1
negative regulation of neurogenesis	1
regulation of axonogenesis	1
intracellular protein transport	1
regulation of intracellular protein transport	1
positive regulation of protein transport	1
establishment of cell polarity	1
regulation of establishment or maintenance of cell polarity	1
retrograde axonal transport	1
regulation of retrograde axon cargo transport	1
cytoskeletal protein binding	1
binding	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
cell leading edge	1
plasma membrane bounded cell projection	1
actin-based cell projection	1
dendritic tree	1
site of polarized growth	1
distal axon	1
lysosome	1

Protein interactions and networks

STRING

436 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RUFY3	SHTN1	A0MZ66	966
RUFY3	RAP2A	P10114	665
RUFY3	HSPB3	Q12988	590
RUFY3	RAB33A	Q14088	507
RUFY3	ZC2HC1A	Q96GY0	506
RUFY3	RUSC1	Q9BVN2	419
RUFY3	RAB40AL	P0C0E4	396
RUFY3	GPM6A	P51674	387
RUFY3	TIAM2	Q8IVF5	376
RUFY3	TPBGL	P0DKB5	373
RUFY3	PIP4P1	Q86T03	340
RUFY3	RUFY4	Q6ZNE9	338
RUFY3	ARL8A	Q96BM9	326
RUFY3	ARL8B	Q9NVJ2	324
RUFY3	PIKFYVE	Q9Y2I7	312

IntAct

56 interactions, top by confidence:

A	B	Type	Score
CTTNBP2NL	STRN	psi-mi:“MI:2364”(proximity)	0.820
RAB33A	RUFY3	psi-mi:“MI:0915”(physical association)	0.560
CAPN3	RUFY3	psi-mi:“MI:0915”(physical association)	0.560
RUFY3	ABI3	psi-mi:“MI:0915”(physical association)	0.560
RUFY3	SMARCA2	psi-mi:“MI:0915”(physical association)	0.400
PRUNE1	RUFY3	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350
F	NAP1L1	psi-mi:“MI:0914”(association)	0.350
	CCDC22	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
MED13L	IGKV1-8	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
KRT37	ANKRD36	psi-mi:“MI:0914”(association)	0.350
BACE2	FAM171A2	psi-mi:“MI:0914”(association)	0.350
KRT222	HSPA12A	psi-mi:“MI:0914”(association)	0.350
DHX33	POTEI	psi-mi:“MI:0914”(association)	0.350
GLT1D1	UBB	psi-mi:“MI:0914”(association)	0.350
PDE7B	YWHAQ	psi-mi:“MI:0914”(association)	0.350
TRIM8	PCK1	psi-mi:“MI:0914”(association)	0.350
RUFY1	GRK6	psi-mi:“MI:0914”(association)	0.350
RUFY3	MELK	psi-mi:“MI:0914”(association)	0.350
TRMT9B	RUFY3	psi-mi:“MI:0914”(association)	0.350
RUFY2	RUFY3	psi-mi:“MI:0914”(association)	0.350
KRT222	EXOC5	psi-mi:“MI:0914”(association)	0.350

BioGRID (72): RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), RUFY3 (Proximity Label-MS), RUFY3 (Affinity Capture-MS), CAPN3 (Two-hybrid)

ESM2 similar proteins: A0PJP4, B7ZAP0, E9PSK7, O60271, O88447, P0C6R4, P37285, P83094, Q07866, Q0VCP9, Q14161, Q17QG3, Q28623, Q2QLI6, Q3KR37, Q4V328, Q5EA89, Q5EBL4, Q5FVJ0, Q5HYJ3, Q5R4V2, Q5R581, Q5R9B3, Q5TF58, Q5ZJ65, Q66H91, Q6P643, Q6PBM7, Q6Z746, Q7L099, Q7Z3E2, Q80XP8, Q80YA9, Q8BR07, Q8C9S4, Q8R2V2, Q8TAV0, Q8TD16, Q8VD04, Q8WXI2

Diamond homologs: A7YDW0, O08576, Q08E29, Q0V9V7, Q17QK1, Q3B7K9, Q4R7B9, Q59EK9, Q5FVJ0, Q5NVC2, Q5R4V2, Q5R565, Q5R5R4, Q5U3W3, Q6PDC0, Q7L099, Q8BIJ7, Q8R4C2, Q8WXA3, Q96NL0, Q96T51, Q9D394, B1AVY7, Q08DX0, Q559T8, Q5PQS0, Q5R7A7, Q7TSI1, Q80TQ5, Q8IUI4, Q8IWE5, Q8R4V0, Q8TEQ0, Q96BR1, Q96L93, Q9D3S3, Q9ERE3, Q9VB25, Q9Y4G2, A2RSQ0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PAK1	“up-regulates quantity”	RUFY3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2927 predictions. Top by Δscore:

Variant	Effect	Δscore
4:70722059:G:GT	donor_gain	1.0000
4:70741613:T:TA	acceptor_gain	1.0000
4:70741616:C:A	acceptor_gain	1.0000
4:70762510:T:A	acceptor_gain	1.0000
4:70762511:G:A	acceptor_gain	1.0000
4:70762515:GCAG:G	acceptor_loss	1.0000
4:70762516:CAGA:C	acceptor_loss	1.0000
4:70762517:A:AG	acceptor_gain	1.0000
4:70762517:A:T	acceptor_loss	1.0000
4:70762518:G:GG	acceptor_gain	1.0000
4:70762518:GATC:G	acceptor_gain	1.0000
4:70762518:GATCC:G	acceptor_gain	1.0000
4:70762690:AAGGT:A	donor_loss	1.0000
4:70762691:AGGT:A	donor_loss	1.0000
4:70762693:GT:G	donor_loss	1.0000
4:70763370:G:T	donor_gain	1.0000
4:70763546:CCTTA:C	acceptor_loss	1.0000
4:70763547:CTTAG:C	acceptor_loss	1.0000
4:70763548:TTAGC:T	acceptor_loss	1.0000
4:70763549:TAGC:T	acceptor_loss	1.0000
4:70763550:A:AG	acceptor_gain	1.0000
4:70763551:G:GG	acceptor_gain	1.0000
4:70763551:G:GT	acceptor_loss	1.0000
4:70763551:GC:G	acceptor_gain	1.0000
4:70763551:GCT:G	acceptor_gain	1.0000
4:70763551:GCTA:G	acceptor_gain	1.0000
4:70763551:GCTAA:G	acceptor_gain	1.0000
4:70763663:GACT:G	donor_gain	1.0000
4:70763666:T:G	donor_gain	1.0000
4:70763666:TTAA:T	donor_loss	1.0000

AlphaMissense

4122 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:70722656:T:C	L28P	1.000
4:70722658:T:C	C29R	1.000
4:70722659:G:A	C29Y	1.000
4:70722660:C:G	C29W	1.000
4:70722664:T:C	F31L	1.000
4:70722665:T:C	F31S	1.000
4:70722666:C:A	F31L	1.000
4:70722666:C:G	F31L	1.000
4:70722683:G:T	G37V	1.000
4:70722688:T:A	W39R	1.000
4:70722688:T:C	W39R	1.000
4:70722690:G:C	W39C	1.000
4:70722690:G:T	W39C	1.000
4:70722692:T:C	L40P	1.000
4:70722694:T:C	C41R	1.000
4:70722696:C:G	C41W	1.000
4:70722698:T:C	L42P	1.000
4:70762545:C:A	R69S	1.000
4:70762546:G:C	R69P	1.000
4:70762555:T:A	L72H	1.000
4:70762555:T:C	L72P	1.000
4:70762566:G:C	A76P	1.000
4:70762567:C:A	A76D	1.000
4:70762573:T:A	L78Q	1.000
4:70762573:T:C	L78P	1.000
4:70762575:A:C	S79R	1.000
4:70762577:T:A	S79R	1.000
4:70762577:T:G	S79R	1.000
4:70762579:T:A	I80N	1.000
4:70762581:A:G	K81E	1.000

dbSNP variants (sampled 300 via entrez): RS1000013352 (4:70785354 T>A), RS10000135 (4:70729423 A>T), RS1000059466 (4:70764686 C>A,T), RS1000104068 (4:70721509 A>G), RS1000134154 (4:70739898 G>A), RS1000169815 (4:70723131 A>C), RS1000196037 (4:70731760 G>A), RS1000230111 (4:70772147 G>GTA), RS1000267988 (4:70748102 A>G), RS1000308812 (4:70721215 G>A), RS1000348865 (4:70776648 C>T), RS1000414131 (4:70778727 A>C), RS1000421831 (4:70711129 AT>A,ATT,ATTTTT), RS1000469648 (4:70757557 T>C), RS1000470857 (4:70738227 G>A)

Disease associations

OMIM: gene MIM:611194 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
Cyclosporine	increases expression	3
trichostatin A	affects cotreatment, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Weichang’an	decreases expression	2
Plant Extracts	affects cotreatment, increases expression	2
Tretinoin	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
beta-methylcholine	affects expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases methylation	1
LDN 193189	affects cotreatment, increases expression	1
NSC 689534	affects binding, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	decreases expression	1
Copper	affects binding, increases expression	1
Diethylstilbestrol	increases expression	1

Clinical trials (associated diseases)

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