RUFY1

Summary

RUFY1 (RUN and FYVE domain containing 1, HGNC:19760) is a protein-coding gene on chromosome 5q35.3, encoding RUN and FYVE domain-containing protein 1 (Q96T51). Activating adapter involved in cargo sorting from early/recycling endosomes.

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 80230 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_025158

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19760
Approved symbol	RUFY1
Name	RUN and FYVE domain containing 1
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22251, ZFYVE12, RABIP4
Ensembl gene	ENSG00000176783
Ensembl biotype	protein_coding
OMIM	610327
Entrez	80230

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 14 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000319449, ENST00000393438, ENST00000393448, ENST00000437570, ENST00000502434, ENST00000502531, ENST00000502984, ENST00000503514, ENST00000503583, ENST00000507569, ENST00000508609, ENST00000508797, ENST00000509797, ENST00000514238, ENST00000891451, ENST00000891452, ENST00000891453, ENST00000891454, ENST00000891455, ENST00000913144, ENST00000954263, ENST00000954264

RefSeq mRNA: 3 — MANE Select: NM_025158 NM_001040451, NM_001040452, NM_025158

CCDS: CCDS34312, CCDS4445

Canonical transcript exons

ENST00000319449 — 18 exons

Exon	Start	End
ENSE00001240095	179562547	179562664
ENSE00001372451	179550554	179550879
ENSE00002067051	179609376	179610012
ENSE00003495787	179589546	179589647
ENSE00003503073	179594866	179594963
ENSE00003552550	179605876	179605924
ENSE00003557913	179567461	179567562
ENSE00003598999	179596562	179596681
ENSE00003602752	179591625	179591741
ENSE00003622996	179593478	179593645
ENSE00003623890	179585796	179585865
ENSE00003662679	179569302	179569425
ENSE00003665641	179560025	179560198
ENSE00003667912	179601892	179601986
ENSE00003667916	179607582	179607659
ENSE00003669024	179577075	179577136
ENSE00003686217	179580947	179581012
ENSE00003691754	179598692	179598821

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.8357 / max 371.8702, expressed in 1818 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60540	16.2609	1810
60541	5.4814	1399
60539	0.0935	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.14	gold quality
leukocyte	CL:0000738	98.79	gold quality
calcaneal tendon	UBERON:0003701	97.89	gold quality
sural nerve	UBERON:0015488	96.66	gold quality
lower esophagus mucosa	UBERON:0035834	95.87	gold quality
corpus callosum	UBERON:0002336	95.44	gold quality
ventricular zone	UBERON:0003053	95.20	gold quality
blood	UBERON:0000178	95.16	gold quality
right uterine tube	UBERON:0001302	95.07	gold quality
mucosa of stomach	UBERON:0001199	94.77	gold quality
granulocyte	CL:0000094	94.76	gold quality
skin of leg	UBERON:0001511	94.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.47	gold quality
right lung	UBERON:0002167	94.43	gold quality
spleen	UBERON:0002106	94.42	gold quality
zone of skin	UBERON:0000014	94.41	gold quality
right adrenal gland cortex	UBERON:0035827	94.41	gold quality
skin of abdomen	UBERON:0001416	94.32	gold quality
body of uterus	UBERON:0009853	94.32	gold quality
lower esophagus	UBERON:0013473	94.32	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.30	gold quality
right adrenal gland	UBERON:0001233	94.16	gold quality
esophagus	UBERON:0001043	93.98	gold quality
myometrium	UBERON:0001296	93.98	gold quality
vagina	UBERON:0000996	93.86	gold quality
endometrium	UBERON:0001295	93.83	gold quality
upper lobe of left lung	UBERON:0008952	93.80	gold quality
colonic epithelium	UBERON:0000397	93.77	gold quality
esophagus mucosa	UBERON:0002469	93.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	38.63
E-MTAB-9221	yes	21.01
E-HCAD-1	yes	7.78
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting RUFY1, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-1180-5P	98.16	65.32	460
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-759	96.16	66.77	873
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-5586-3P	95.51	67.00	805

Literature-anchored findings (GeneRIF, showing 6)

• interaction with tyrosine kinase Etk (PMID:11877430)
• These findings suggest that Rab14 and Rab4 act sequentially, together with RUFY1. (PMID:20534812)
• Data indicate that RUN and FYVE domain protein Rabip4’(RUFY1) interacts specifically and directly with adaptor protein complex AP-3. (PMID:23144738)
• RUFY1 may be involved in endolysosomal transport-a process known to be important to development of early onset AD. (PMID:28738127)
• Data suggest that targeting the podocalyxin-like protein (PODXL)/RUN and FYVE domain containing 1 (RUFY1) complex might improve cancer therapy. (PMID:30407695)
• RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes. (PMID:36282215)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rufy1	ENSDARG00000078685
mus_musculus	Rufy1	ENSMUSG00000020375
rattus_norvegicus	Rufy1	ENSRNOG00000003536
drosophila_melanogaster	CG6051	FBGN0039492
drosophila_melanogaster	CG31064	FBGN0051064
caenorhabditis_elegans		WBGENE00003084

Paralogs (13): RUFY3 (ENSG00000018189), ZFYVE16 (ENSG00000039319), SNX29 (ENSG00000048471), ZFYVE26 (ENSG00000072121), RUNDC3B (ENSG00000105784), RUNDC3A (ENSG00000108309), PLEKHM2 (ENSG00000116786), ZFYVE28 (ENSG00000159733), ZFYVE1 (ENSG00000165861), ZFYVE19 (ENSG00000166140), PLEKHF1 (ENSG00000166289), PLEKHF2 (ENSG00000175895), RUFY2 (ENSG00000204130)

Protein

Protein identifiers

RUN and FYVE domain-containing protein 1 — Q96T51 (reviewed: Q96T51)

Alternative names: FYVE-finger protein EIP1, La-binding protein 1, Rab4-interacting protein, Zinc finger FYVE domain-containing protein 12

All UniProt accessions (5): Q96T51, H0Y9Y8, H0YA47, H0YAC8, J3KPP6

UniProt curated annotations — full annotation on UniProt →

Function. Activating adapter involved in cargo sorting from early/recycling endosomes. Regulates retrieval of proteins from endosomes to the trans-Golgi network through interaction with the dynein-dynactin complex. Dual effector of RAB4B and RAB14, mediates a cooperative interaction allowing endosomal tethering and fusion. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking. In oocytes, self-assembles to form a protein matrix which hold together endolysosomes, autophagosomes and proteasomes and generate non-membrane-bound compartments called endo-lysosomal vesicular assemblies (ELVAs). In immature oocytes, ELVAs sequester ubiquitinated protein aggregates and degrade them upon oocyte maturation.

Subunit / interactions. Self-assembles through coiled coil domains to drive ELVA (endo-lysosomal vesicular assembly) formation. Interacts with BMX. May interact with SSB. Interacts with RAB4 and RAB5 that have been activated by GTP-binding. Interacts WITH RAB14 and RAB4B (GTP-bound form); the interactions allow endosomal tethering and fusion. Interacts with ARL8B (GTP-bound form); the interaction is required for RUFY1 endosomal location and promotes interaction with RAB14.

Subcellular location. Early endosome membrane.

Tissue specificity. Broadly expressed, with highest levels in lung, testis, kidney and brain.

Post-translational modifications. Phosphorylation on Tyr-389 and/or Tyr-400 is required for interaction with BMX and endosomal targeting.

Domain organisation. The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions. The 2 coiled coil domains mediate the interaction with the dynein-dynactin complex, the RUN domain is also involved in the interaction. The coiled coil domains also mediate self-association.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96T51-1	1, rabip4'	yes
Q96T51-2	2, rabip4
Q96T51-3	3

RefSeq proteins (3): NP_001035541, NP_001035542, NP_079434* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000306	Znf_FYVE	Domain
IPR001841	Znf_RING	Domain
IPR004012	Run_dom	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR037213	Run_dom_sf	Homologous_superfamily
IPR047330	RUN_RUFY1	Domain
IPR047331	FYVE_RUFY1	Domain
IPR047335	RUFY1-3	Family

Pfam: PF01363, PF02759

UniProt features (40 total): binding site 8, strand 6, modified residue 3, splice variant 3, region of interest 3, sequence variant 2, mutagenesis site 2, sequence conflict 2, turn 2, helix 2, coiled-coil region 2, compositionally biased region 2, chain 1, domain 1, zinc finger region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2YW8	X-RAY DIFFRACTION	3
2YQM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96T51-F1	76.26	0.37

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 (8): 648; 651; 664; 667; 672; 675; 692; 695

Post-translational modifications (3): 389, 400, 620

Mutagenesis-validated functional residues (2):

Position	Phenotype
389	abolishes phosphorylation and endosomal targeting; when associated with f-400.
400	abolishes phosphorylation and endosomal targeting; when associated with f-389.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 180 (showing top): TSENG_IRS1_TARGETS_UP, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GTGCCTT_MIR506, GOMF_SH2_DOMAIN_BINDING, YY1_02, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANELLE_MEMBRANE_FUSION, KIM_GERMINAL_CENTER_T_HELPER_UP, GOBP_REGULATION_OF_ENDOCYTOSIS, TGGNNNNNNKCCAR_UNKNOWN

GO Biological Process (6): endocytosis (GO:0006897), small GTPase-mediated signal transduction (GO:0007264), protein transport (GO:0015031), regulation of endocytosis (GO:0030100), endosomal vesicle fusion (GO:0034058), early endosome to Golgi transport (GO:0034498)

GO Molecular Function (8): zinc ion binding (GO:0008270), lipid binding (GO:0008289), SH3 domain binding (GO:0017124), protein-macromolecule adaptor activity (GO:0030674), SH2 domain binding (GO:0042169), identical protein binding (GO:0042802), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): cytoplasm (GO:0005737), endosome (GO:0005768), cytosol (GO:0005829), nuclear speck (GO:0016607), early endosome membrane (GO:0031901), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
PI Metabolism	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
protein domain specific binding	2
protein binding	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
intracellular signaling cassette	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
endocytosis	1
regulation of cellular component organization	1
regulation of vesicle-mediated transport	1
vesicle fusion	1
retrograde transport, endosome to Golgi	1
Golgi vesicle transport	1
transition metal ion binding	1
molecular adaptor activity	1
cation binding	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
nuclear ribonucleoprotein granule	1
early endosome	1
endosome membrane	1

Protein interactions and networks

STRING

1058 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RUFY1	RAB4A	P20338	790
RUFY1	EPHA3	P29320	763
RUFY1	PODXL	O00592	675
RUFY1	RAB5A	P20339	641
RUFY1	RAB14	P35287	607
RUFY1	C17orf67	Q0P5P2	490
RUFY1	CLIP1	P30622	485
RUFY1	CCDC186	Q7Z3E2	485
RUFY1	RUSC1	Q9BVN2	473
RUFY1	SPECC1L	Q69YQ0	435
RUFY1	RAB33A	Q14088	416
RUFY1	HNRNPH1	P31943	399
RUFY1	FAM13B	Q9NYF5	382
RUFY1	PRAG1	Q86YV5	375
RUFY1	RABEP1	Q15276	373
RUFY1	RASGEF1C	Q8N431	373

IntAct

86 interactions, top by confidence:

A	B	Type	Score
UTP25	RUFY1	psi-mi:“MI:0915”(physical association)	0.740
RUFY1	UTP25	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAB39B	RUFY1	psi-mi:“MI:0915”(physical association)	0.670
RUFY1	RAB39B	psi-mi:“MI:0915”(physical association)	0.670
FAM9C	NDC80	psi-mi:“MI:0914”(association)	0.670
PIAS2	RUFY1	psi-mi:“MI:0915”(physical association)	0.580
RUFY1	PIAS2	psi-mi:“MI:0915”(physical association)	0.580
RUFY1	RAB3IP	psi-mi:“MI:0915”(physical association)	0.560
RUFY1	TXNDC17	psi-mi:“MI:0915”(physical association)	0.560
TXNDC17	RUFY1	psi-mi:“MI:0915”(physical association)	0.560
LRRC40	PGK2	psi-mi:“MI:0914”(association)	0.560
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
FOSL2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
ESR1	PGK2	psi-mi:“MI:0914”(association)	0.530
EEA1	IGF2R	psi-mi:“MI:2364”(proximity)	0.450
HCK	RUFY1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (572): RUFY1 (Two-hybrid), RUFY1 (Two-hybrid), TXNDC17 (Two-hybrid), RAB39B (Two-hybrid), RAB3IP (Two-hybrid), AP3B2 (Affinity Capture-MS), DYNC1H1 (Affinity Capture-MS), TUBB (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), AP3B2 (Reconstituted Complex), AP3D1 (Reconstituted Complex), AP3S1 (Reconstituted Complex), AP3M1 (Reconstituted Complex), RUFY1 (Affinity Capture-Western), RUFY1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMQ7, A0JP75, A1A600, A2BGP7, B1A193, B1WBU8, B2RPU2, G9G127, H2MTR9, O88869, Q0VFN8, Q2TAA8, Q32LC2, Q3ULW6, Q3UP38, Q4R7V1, Q4V7B0, Q5EB20, Q5JU67, Q5PQQ9, Q5RDE3, Q5U4W1, Q5XIR4, Q61043, Q6AXZ4, Q6IP02, Q6IQY5, Q6IRU7, Q6NRK1, Q6NRX3, Q6PA69, Q6ZQ12, Q7Z3E5, Q86YF9, Q86YS3, Q8BIJ7, Q8BQP8, Q8CGZ2, Q8CJ96, Q8K342

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A4QTV1, A8QCE4, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, F1MM41, F7EP40, O13821, O14964, O59722, O76902, O95405, O96838, P0CS26, P0CS27, P34756, P40343, Q05B78, Q08CN9, Q0CJV3, Q0P4S0, Q0U4Z8

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
RAB14	“up-regulates activity”	RUFY1	relocalization
RAB4A	“up-regulates activity”	RUFY1	binding
BMX	“up-regulates activity”	RUFY1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

3203 predictions. Top by Δscore:

Variant	Effect	Δscore
5:179560023:A:AG	acceptor_gain	1.0000
5:179560024:G:GG	acceptor_gain	1.0000
5:179560024:GCTT:G	acceptor_gain	1.0000
5:179560024:GCTTC:G	acceptor_gain	1.0000
5:179560194:GAAAG:G	donor_gain	1.0000
5:179560196:AAGGT:A	donor_loss	1.0000
5:179560197:AGGT:A	donor_loss	1.0000
5:179560198:GGT:G	donor_loss	1.0000
5:179560199:GTGA:G	donor_loss	1.0000
5:179560200:T:A	donor_loss	1.0000
5:179562542:TTTA:T	acceptor_loss	1.0000
5:179562543:TTAGT:T	acceptor_loss	1.0000
5:179562544:TA:T	acceptor_loss	1.0000
5:179562545:A:AG	acceptor_gain	1.0000
5:179562545:A:C	acceptor_loss	1.0000
5:179562546:G:GG	acceptor_gain	1.0000
5:179562546:GT:G	acceptor_gain	1.0000
5:179562546:GTT:G	acceptor_gain	1.0000
5:179562546:GTTA:G	acceptor_gain	1.0000
5:179562546:GTTAA:G	acceptor_gain	1.0000
5:179562665:GTGA:G	donor_gain	1.0000
5:179569299:CAG:C	acceptor_loss	1.0000
5:179569301:G:A	acceptor_loss	1.0000
5:179569301:GC:G	acceptor_gain	1.0000
5:179569301:GCGA:G	acceptor_gain	1.0000
5:179569421:CTCAG:C	donor_loss	1.0000
5:179569422:TCAG:T	donor_loss	1.0000
5:179569423:CAG:C	donor_loss	1.0000
5:179569424:AG:A	donor_loss	1.0000
5:179569425:GG:G	donor_loss	1.0000

AlphaMissense

4661 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:179567486:T:A	W210R	1.000
5:179567486:T:C	W210R	1.000
5:179581003:G:C	R316P	1.000
5:179560081:A:C	S123R	0.999
5:179560083:C:A	S123R	0.999
5:179560083:C:G	S123R	0.999
5:179560181:T:C	L156P	0.999
5:179567478:G:A	G207D	0.999
5:179567481:G:C	R208P	0.999
5:179569364:T:C	L256P	0.999
5:179580997:T:C	L314P	0.999
5:179585813:T:C	L325P	0.999
5:179585855:T:C	L339P	0.999
5:179589555:G:C	A346P	0.999
5:179607639:T:C	F655L	0.999
5:179607641:C:A	F655L	0.999
5:179607641:C:G	F655L	0.999
5:179607655:G:C	R660T	0.999
5:179607656:A:C	R660S	0.999
5:179607656:A:T	R660S	0.999
5:179609379:C:G	H663D	0.999
5:179609382:T:A	C664S	0.999
5:179609382:T:C	C664R	0.999
5:179609383:G:C	C664S	0.999
5:179609384:C:G	C664W	0.999
5:179609406:T:C	C672R	0.999
5:179560061:T:C	L116P	0.998
5:179560193:T:C	L160P	0.998
5:179562639:A:C	S193R	0.998
5:179562641:T:A	S193R	0.998

dbSNP variants (sampled 300 via entrez): RS1000015290 (5:179586692 A>C), RS1000082243 (5:179551213 C>A,G,T), RS1000118440 (5:179581302 C>T), RS1000190325 (5:179592013 T>C), RS1000311951 (5:179567970 TGTG>T), RS1000330967 (5:179574613 GA>G), RS1000379939 (5:179558496 C>G), RS1000417055 (5:179593070 G>GT), RS1000446099 (5:179551650 C>T), RS1000457642 (5:179608045 C>T), RS1000529272 (5:179591186 T>C), RS1000559454 (5:179550148 A>T), RS1000570674 (5:179586150 G>T), RS1000600846 (5:179576506 C>T), RS1000631152 (5:179551904 G>A)

Disease associations

OMIM: gene MIM:610327 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001644_3	Eating disorders	3.000000e-06
GCST003518_46	Daytime sleep phenotypes	1.000000e-06
GCST003518_7	Daytime sleep phenotypes	7.000000e-07
GCST004748_48	Lung cancer	4.000000e-06
GCST009269_7	Dental caries (decayed and filled deciduous teeth)	3.000000e-06
GCST010346_39	TPE interval (resting)	1.000000e-09
GCST90002394_33	Monocyte percentage of white cells	2.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0004644	TPE interval measurement
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects methylation	2
Arsenic	increases abundance, increases expression, affects methylation	2
Lead	affects splicing, decreases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects methylation	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression, increases methylation	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
bisphenol S	decreases methylation	1
excavatolide B	decreases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Benzene	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Caffeine	increases phosphorylation	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

Clinical trials (associated diseases)

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