RAP2B

Summary

RAP2B (RAP2B, member of RAS oncogene family, HGNC:9862) is a protein-coding gene on chromosome 3q25.2, encoding Ras-related protein Rap-2b (P61225). Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form.

This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated.

Source: NCBI Gene 5912 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_002886

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9862
Approved symbol	RAP2B
Name	RAP2B, member of RAS oncogene family
Location	3q25.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181467
Ensembl biotype	protein_coding
OMIM	179541
Entrez	5912

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000323534

RefSeq mRNA: 1 — MANE Select: NM_002886 NM_002886

CCDS: CCDS3170

Canonical transcript exons

ENST00000323534 — 1 exons

Exon	Start	End
ENSE00001226151	153162226	153170627

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 97.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.9912 / max 431.9650, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39330	39.4221	1815
39331	0.8569	403
39332	0.6210	278
39329	0.0912	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	97.90	gold quality
squamous epithelium	UBERON:0006914	97.67	gold quality
epithelium of esophagus	UBERON:0001976	97.24	gold quality
gingival epithelium	UBERON:0001949	97.22	gold quality
germinal epithelium of ovary	UBERON:0001304	97.20	gold quality
cervix squamous epithelium	UBERON:0006922	97.17	gold quality
buccal mucosa cell	CL:0002336	97.16	gold quality
amniotic fluid	UBERON:0000173	96.97	gold quality
gingiva	UBERON:0001828	96.64	gold quality
tongue squamous epithelium	UBERON:0006919	96.04	gold quality
tendon of biceps brachii	UBERON:0008188	96.03	gold quality
pharyngeal mucosa	UBERON:0000355	96.02	gold quality
hair follicle	UBERON:0002073	95.20	gold quality
penis	UBERON:0000989	95.06	gold quality
palpebral conjunctiva	UBERON:0001812	94.48	gold quality
secondary oocyte	CL:0000655	94.40	gold quality
cervix epithelium	UBERON:0004801	94.37	gold quality
epithelium of nasopharynx	UBERON:0001951	94.36	gold quality
oral cavity	UBERON:0000167	93.78	gold quality
synovial joint	UBERON:0002217	93.52	gold quality
layer of synovial tissue	UBERON:0007616	93.23	gold quality
decidua	UBERON:0002450	93.15	gold quality
parietal pleura	UBERON:0002400	93.12	gold quality
mucosa of urinary bladder	UBERON:0001259	93.06	gold quality
pleura	UBERON:0000977	92.80	gold quality
skin of hip	UBERON:0001554	92.63	gold quality
upper leg skin	UBERON:0004262	92.36	gold quality
visceral pleura	UBERON:0002401	92.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.03	gold quality
epithelium of mammary gland	UBERON:0003244	91.98	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	4244.56
E-ENAD-21	yes	4071.26
E-GEOD-81608	yes	14.76
E-MTAB-6678	yes	10.47
E-MTAB-6075	no	1771.61
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

260 targeting RAP2B, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-373-5P	99.98	75.36	4753

Literature-anchored findings (GeneRIF, showing 24)

• Stimulation of phospholipase C-epsilon by the M3 muscarinic acetylcholine receptor mediated by cyclic AMP and the GTPase Rap2B (PMID:11877431)
• the small GTPase Rap2B is involved in platelet activation (PMID:15613030)
• A cDNA library consisting of 220 upregulated genes in tumour tissue was established and named as LSCC. Differential expression was confirmed in five of these genes, including IGFBP5, SQLE, RAP2B, CLDN1, and TBL1XR1. (PMID:17316888)
• These results demonstrate that Rap2b, but not the more abundant Rap1b, is associated to lipid rafts in human platelets. (PMID:18582561)
• This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
• Rap2b is a conserved p53-activated gene that counters p53-mediated apoptosis after DNA damage. (PMID:23535297)
• Rap2b mediates the pro-survival function of p53 upon DNA damage. (PMID:23535297)
• Data indicate that rap GTP-binding protein Rap2B expression is significantly increased in suprarenal epithelioma and Rap2B can promote the cell migration and invasion abilities, suggesting a target for the treatment of suprarenal epithelioma. (PMID:24951956)
• Our collective findings provide preliminary evidence that miR-342-3p acts as a tumor suppressor in small cell lung cancer through repression of RAP2B. (PMID:25663460)
• Rap2B itself is not necessary for p53-dependent cell cycle arrest. (PMID:25762091)
• Expression and DNA methylation status of the Rap2B gene in human bronchial epithelial cells treated by cigarette smoke condensate (PMID:26308105)
• our results suggested that Rap2b may be a potential therapeutic target for lung cancer. (PMID:26671640)
• miR-194 is inversely correlated with RAP2B. (PMID:27133066)
• Western blot analysis uncovered that elevated Rap2B leads to increased phosphorylation levels of FAK, suggesting that FAK-dependent pathway might be responsible for the effect of Rap2B on PCa cells migration and invasion. (PMID:27154636)
• knockdown of Rap2B inhibits the proliferation and invasion in HCC cells. These findings reveal that Rap2B plays an important role in the regulation of HCC progression. (PMID:28081729)
• Rap2B was overexpressed in cervical cancer tissues and cell lines and knockdown of Rap2B inhibited cervical cancer cell proliferation, migration, and invasion in vitro and suppressed cervical cancer cell growth and metastasis in vivo (PMID:28390112)
• Low RAP2B expression is associated with Osteosarcoma Progression. (PMID:28409547)
• these results revealed that Rap2B promotes renal cell carcinoma angiogenesis via phosphoinositide 3-kinase/AKT/vascular endothelial growth factor signaling pathway, which suggests that Rap2B is a novel therapeutic target for renal cell carcinoma anti-angiogenesis therapy. (PMID:28691643)
• Coxiella burnetii is a Gram negative bacterium that survives and grows in a large Coxiella replicative vacuole (CRV), which displays lysosomal and autophagic features. This report presents evidence that both, EPAC and its downstream effector Rap2b, were recruited to the CRV. Rap2b wt inhibited the fusion of early Coxiella phagosomes with the fully developed CRV. (PMID:30763357)
• High RAP2B expression is associated with glioma. (PMID:30997639)
• Long non-coding RNA CCAT1 promotes non-small cell lung cancer progression by regulating the miR-216a-5p/RAP2B axis. (PMID:33023331)
• MicroRNA-708 suppresses the proliferation, migration, and invasion of human retinoblastoma cells by targeting RAP2B, a member of the RAS oncogene family. (PMID:36444911)
• Hsa_circ_0008035 Knockdown Inhibits Bladder Cancer Progression through miR-1184/RAP2B Axis. (PMID:36958293)
• Inhibiting S-palmitoylation arrests metastasis by relocating Rap2b from plasma membrane in colorectal cancer. (PMID:39277583)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rap2b	ENSDARG00000103032
mus_musculus	Rap2b	ENSMUSG00000036894
rattus_norvegicus	Rap2b	ENSRNOG00000065432

Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)

Protein

Protein identifiers

Ras-related protein Rap-2b — P61225 (reviewed: P61225)

All UniProt accessions (1): P61225

UniProt curated annotations — full annotation on UniProt →

Function. Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells.

Subunit / interactions. Interacts with PLCE1. Interacts with SGSM1, SGSM2 and SGSM3. The GTP-bound form of RAP2B interacts with RUNDC3A.

Subcellular location. Recycling endosome membrane.

Tissue specificity. Expressed in red blood cells (at protein level).

Post-translational modifications. Palmitoylated. Unlike RAP2A and RAP2C, palmitoylation of RAP2B is not required for association with recycling endosome membranes and activation of TNIK.

Domain organisation. The effector domain mediates the interaction with RUNDC3A.

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

RefSeq proteins (1): NP_002877* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR020849	Small_GTPase_Ras-type	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR041840	Rap2	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (11 total): binding site 3, lipid moiety-binding region 3, chain 1, propeptide 1, sequence conflict 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1N4Q	X-RAY DIFFRACTION	2.4
1N4P	X-RAY DIFFRACTION	2.65
1N4R	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61225-F1	91.16	0.78

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 (3): 10–17; 57–61; 116–119

Post-translational modifications (4): 180, 176, 177, 180

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 292 (showing top): GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GNF2_MSN, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_ENDOTHELIAL_INTESTINAL_BARRIER, GOCC_SECRETORY_GRANULE, GOBP_PLATELET_ACTIVATION, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, CAGCTG_AP4_Q5

GO Biological Process (6): signal transduction (GO:0007165), platelet activation (GO:0030168), negative regulation of cell migration (GO:0030336), Rap protein signal transduction (GO:0032486), regulation of protein tyrosine kinase activity (GO:0061097), platelet aggregation (GO:0070527)

GO Molecular Function (8): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), protein domain specific binding (GO:0019904), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (15): cytosol (GO:0005829), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), membrane (GO:0016020), specific granule membrane (GO:0035579), cell-cell contact zone (GO:0044291), membrane raft (GO:0045121), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), endosome (GO:0005768), endomembrane system (GO:0012505), cytoplasmic vesicle membrane (GO:0030659), recycling endosome (GO:0055037), bounding membrane of organelle (GO:0098588)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
guanyl ribonucleotide binding	2
secretory granule membrane	2
cytoplasmic vesicle	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell activation	1
blood coagulation	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
small GTPase-mediated signal transduction	1
protein tyrosine kinase activity	1
regulation of protein kinase activity	1
regulation of peptidyl-tyrosine phosphorylation	1
platelet activation	1
homotypic cell-cell adhesion	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
cytoplasm	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
specific granule	1
cell-cell junction	1
membrane microdomain	1
endosome membrane	1
recycling endosome	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

49 interactions, top by confidence:

A	B	Type	Score
RIN1	NRAS	psi-mi:“MI:0914”(association)	0.840
RAP2B	RUNDC3A	psi-mi:“MI:0915”(physical association)	0.670
RUNDC3A	RAP2B	psi-mi:“MI:0915”(physical association)	0.670
RIN1	RAP2B	psi-mi:“MI:0914”(association)	0.640
CAMK2B	RAP2B	psi-mi:“MI:0915”(physical association)	0.560
RAP2B	RASSF5	psi-mi:“MI:0915”(physical association)	0.560
RAP2B	CAMK2B	psi-mi:“MI:0915”(physical association)	0.560
RASSF5	RAP2B	psi-mi:“MI:0915”(physical association)	0.560
RAP2B	RUNDC3A	psi-mi:“MI:0915”(physical association)	0.560
RAP1GDS1	RAP2B	psi-mi:“MI:0915”(physical association)	0.560
SPCS3	ENTPD6	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
MME		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZBTB18	DNASE1L1	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
RAP2A	CHEK1	psi-mi:“MI:0914”(association)	0.350
KRTCAP2	RAP2B	psi-mi:“MI:0914”(association)	0.350
CACYBP	VPS37C	psi-mi:“MI:0914”(association)	0.350
CACYBP	PSMD11	psi-mi:“MI:0914”(association)	0.350
CAPRIN1	VPS37C	psi-mi:“MI:0914”(association)	0.350

BioGRID (44): RAP2B (Two-hybrid), RUNDC3A (Two-hybrid), RASSF5 (Two-hybrid), RAP2B (Affinity Capture-MS), RUNDC3A (Two-hybrid), CCT6A (Co-fractionation), RAP2B (Two-hybrid), RAP2B (Two-hybrid), RIN1 (Affinity Capture-MS), RAP2B (Reconstituted Complex), RAP2B (Affinity Capture-MS), RAP2B (Affinity Capture-MS), RAP2B (Affinity Capture-MS), RAP2B (Two-hybrid), RAP2B (Two-hybrid)

ESM2 similar proteins: A8NU18, D3Z8L7, G4MZY8, G4N1S3, O08989, O14807, O42785, O93856, P01114, P04388, P08647, P0CQ42, P0CQ43, P10114, P10301, P10833, P22126, P22278, P22279, P22280, P28775, P32252, P32253, P32254, P34726, P38976, P51539, P61225, P61226, P61227, P62070, P62071, P70425, P70426, P87018, P97538, Q01387, Q05058, Q06AU2, Q08DI5

Diamond homologs: A1DZY4, A6QP66, A8NU18, C4YKT4, O08989, O14807, O35929, O88667, O93856, O94363, P01119, P03967, P08645, P08647, P0CY32, P10114, P10536, P11233, P11234, P15064, P17609, P22124, P22126, P22278, P22279, P22280, P28775, P32254, P36860, P36863, P48555, P59279, P61105, P61225, P61226, P61227, P62070, P62071, P63320, P63321

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

290 predictions. Top by Δscore:

Variant	Effect	Δscore
3:153164759:T:G	acceptor_gain	0.9400
3:153165954:A:G	acceptor_gain	0.9200
3:153163473:GCAT:G	donor_gain	0.9100
3:153164764:A:AG	acceptor_gain	0.8600
3:153164765:G:GG	acceptor_gain	0.8600
3:153163208:GCGA:G	donor_gain	0.8400
3:153163047:G:GA	donor_gain	0.8000
3:153163453:TGGAA:T	donor_gain	0.7800
3:153163046:T:TA	donor_gain	0.7700
3:153163313:T:G	donor_gain	0.7700
3:153163003:AAGCG:A	donor_gain	0.7500
3:153163312:A:AG	donor_gain	0.7500
3:153163308:T:G	donor_gain	0.7300
3:153163005:GCG:G	donor_gain	0.7200
3:153163477:G:GG	donor_gain	0.7000
3:153163685:T:A	acceptor_gain	0.7000
3:153163152:AGACG:A	donor_gain	0.6900
3:153165953:A:AC	acceptor_gain	0.6900
3:153163918:G:GT	donor_gain	0.6700
3:153164760:A:T	acceptor_gain	0.6500
3:153163309:G:GG	donor_gain	0.6300
3:153164756:TCATA:T	acceptor_gain	0.6200
3:153165955:G:GG	acceptor_gain	0.6200
3:153163874:G:GT	donor_gain	0.5900
3:153163795:A:AG	acceptor_gain	0.5800
3:153163796:G:GG	acceptor_gain	0.5800
3:153163420:G:GT	donor_gain	0.5700
3:153163151:T:TA	donor_gain	0.5600
3:153163454:G:GA	donor_gain	0.5600
3:153162541:G:GA	donor_gain	0.5500

AlphaMissense

1195 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:153162721:G:C	G10R	1.000
3:153162736:G:C	G15R	1.000
3:153162736:G:T	G15C	1.000
3:153162737:G:A	G15D	1.000
3:153162737:G:T	G15V	1.000
3:153162739:A:C	K16Q	1.000
3:153162740:A:T	K16M	1.000
3:153162741:G:C	K16N	1.000
3:153162741:G:T	K16N	1.000
3:153162743:C:T	S17F	1.000
3:153162749:T:C	L19P	1.000
3:153162775:T:C	F28L	1.000
3:153162777:C:A	F28L	1.000
3:153162777:C:G	F28L	1.000
3:153162800:T:A	I36N	1.000
3:153162851:T:C	L53P	1.000
3:153162860:T:C	L56P	1.000
3:153162862:G:A	D57N	1.000
3:153162862:G:C	D57H	1.000
3:153162862:G:T	D57Y	1.000
3:153162863:A:C	D57A	1.000
3:153162863:A:G	D57G	1.000
3:153162863:A:T	D57V	1.000
3:153162864:T:A	D57E	1.000
3:153162864:T:G	D57E	1.000
3:153162871:G:C	G60R	1.000
3:153162871:G:T	G60C	1.000
3:153162883:T:C	F64L	1.000
3:153162884:T:G	F64C	1.000
3:153162885:C:A	F64L	1.000

dbSNP variants (sampled 300 via entrez): RS1000232261 (3:153164409 A>G), RS1000350759 (3:153168952 A>G,T), RS1000409886 (3:153170397 A>G), RS1000586004 (3:153162125 C>G,T), RS1000676910 (3:153170572 G>A), RS1001041269 (3:153162255 G>A,C), RS1001112304 (3:153166005 A>G,T), RS1001393767 (3:153167668 A>G), RS1001466925 (3:153167329 G>T), RS1001537814 (3:153164986 C>T), RS1001590435 (3:153165285 A>C), RS1002397774 (3:153166064 C>T), RS1002469525 (3:153165747 G>A,T), RS1002665167 (3:153166079 C>T), RS1003040404 (3:153160442 G>T)

Disease associations

OMIM: gene MIM:179541 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003723_2	Serum sulfate level	3.000000e-07
GCST006904_3	Cerebral amyloid deposition (PET imaging)	1.000000e-06
GCST007576_188	Chronotype	9.000000e-10
GCST009391_1074	Metabolite levels	3.000000e-06
GCST009391_737	Metabolite levels	4.000000e-06
GCST010302_20	Cutaneous melanoma or hair colour	4.000000e-08
GCST010320_126	PR interval	3.000000e-13
GCST010321_205	PR interval	1.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007864	sulfate measurement
EFO:0007707	cerebral amyloid deposition measurement
EFO:0008328	chronotype measurement
EFO:0010365	lysophosphatidylcholine 22:6 measurement
EFO:0003924	hair color
EFO:0004462	PR interval

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression	5
Aflatoxin B1	affects expression, increases expression	4
bisphenol A	decreases expression, increases expression, affects cotreatment	3
ochratoxin A	affects binding, decreases expression	2
Acetaminophen	increases expression, affects expression	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Ethyl Methanesulfonate	decreases expression, increases expression	2
Methyl Methanesulfonate	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	decreases expression	2
Valproic Acid	decreases methylation, increases expression	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	decreases methylation	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
arsenite	affects binding, increases reaction	1
mevalonolactone	increases prenylation	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
perfluorooctanoic acid	increases expression	1
ochratoxin B	affects binding	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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