RAP2C

Summary

RAP2C (RAP2C, member of RAS oncogene family, HGNC:21165) is a protein-coding gene on chromosome Xq26.2, encoding Ras-related protein Rap-2c (Q9Y3L5). Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form.

The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 57826 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 65 total
• Druggable target: yes
• MANE Select transcript: NM_001271186

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21165
Approved symbol	RAP2C
Name	RAP2C, member of RAS oncogene family
Location	Xq26.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp313B211
Ensembl gene	ENSG00000123728
Ensembl biotype	protein_coding
OMIM	301016
Entrez	57826

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000342983, ENST00000370874, ENST00000460462, ENST00000490400, ENST00000620646, ENST00000859955, ENST00000859956, ENST00000859957, ENST00000859958, ENST00000859959, ENST00000859960, ENST00000859961, ENST00000859962, ENST00000859963, ENST00000859964

RefSeq mRNA: 3 — MANE Select: NM_001271186 NM_001271186, NM_001271187, NM_021183

CCDS: CCDS14632, CCDS76024

Canonical transcript exons

ENST00000370874 — 6 exons

Exon	Start	End
ENSE00001382168	132216996	132217806
ENSE00001388306	132203025	132205587
ENSE00001453809	132217916	132218012
ENSE00001453810	132218232	132218341
ENSE00001453811	132219370	132219447
ENSE00003501062	132214134	132214446

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 96.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.9195 / max 317.4472, expressed in 1808 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200496	8.2510	1677
200499	6.1607	1645
200502	3.1105	1220
200495	2.6585	1177
200501	1.1620	511
200500	0.9922	684
200498	0.9838	618
200497	0.8571	455
200505	0.2931	111
200503	0.2785	134

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	96.37	gold quality
body of uterus	UBERON:0009853	95.76	gold quality
cauda epididymis	UBERON:0004360	95.63	gold quality
germinal epithelium of ovary	UBERON:0001304	95.46	gold quality
myometrium	UBERON:0001296	94.59	gold quality
adrenal tissue	UBERON:0018303	94.52	gold quality
gingival epithelium	UBERON:0001949	93.67	gold quality
palpebral conjunctiva	UBERON:0001812	92.50	gold quality
monocyte	CL:0000576	92.07	gold quality
mononuclear cell	CL:0000842	91.94	gold quality
leukocyte	CL:0000738	91.93	gold quality
esophagus squamous epithelium	UBERON:0006920	91.79	gold quality
amniotic fluid	UBERON:0000173	91.77	gold quality
squamous epithelium	UBERON:0006914	91.56	gold quality
gingiva	UBERON:0001828	91.44	gold quality
right lobe of liver	UBERON:0001114	91.05	gold quality
epithelium of nasopharynx	UBERON:0001951	91.05	gold quality
choroid plexus epithelium	UBERON:0003911	90.90	gold quality
superficial temporal artery	UBERON:0001614	90.55	gold quality
bone marrow	UBERON:0002371	90.44	gold quality
liver	UBERON:0002107	90.36	gold quality
bone marrow cell	CL:0002092	90.32	gold quality
smooth muscle tissue	UBERON:0001135	90.29	gold quality
parietal pleura	UBERON:0002400	90.00	gold quality
pleura	UBERON:0000977	89.91	gold quality
placenta	UBERON:0001987	89.89	gold quality
tongue squamous epithelium	UBERON:0006919	89.70	gold quality
epithelium of esophagus	UBERON:0001976	89.48	gold quality
cartilage tissue	UBERON:0002418	89.47	gold quality
visceral pleura	UBERON:0002401	89.42	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	6.20
E-ANND-3	yes	5.68
E-GEOD-124858	no	922.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

277 targeting RAP2C, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4682	100.00	68.89	1258
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-3064-3P	100.00	70.09	1254
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
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-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593

Literature-anchored findings (GeneRIF, showing 7)

• This work demonstrates that Rap2C is a new member of the Rap2 subfamily of proteins, able to bind guanine nucleotides with peculiar properties, and differently expressed by various hematopoietic subsets (PMID:16213650)
• RAP2C is a novel member of the Ras family, belonging to the Rap branch of small GTPase proteins and may be involved in SRE-mediated gene transcription. (PMID:17447155)
• JAM-A regulates epithelial permeability via association with ZO-2, afadin, and PDZ-GEF1 to activate Rap2c and control contraction of the apical cytoskeleton. (PMID:23885123)
• Study found that SCII upregulated the expression of miR-204 and downregulated the expression of RAP2C; that hypoxia increased the expression of miR-204 and decreased the expression of RAP2C, and overexpression of RAP2C attenuates the effect of hypoxia on apoptosis rate; and miR-204 could directly bind to RAP2C, and could regulate the expression of RAP2C. (PMID:28714326)
• MicroRNA-188-5p promotes apoptosis and inhibits cell proliferation of breast cancer cells via the MAPK signaling pathway by targeting Rap2c. (PMID:31541458)
• MicroRNA200c3p suppresses intervertebral disc degeneration by targeting RAP2C/ERK signaling. (PMID:34676879)
• The LncRNA LENOX Interacts with RAP2C to Regulate Metabolism and Promote Resistance to MAPK Inhibition in Melanoma. (PMID:36214632)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rap2c	ENSDARG00000015649
mus_musculus	Rap2c	ENSMUSG00000050029
rattus_norvegicus	Rap2c	ENSRNOG00000002529
drosophila_melanogaster	Rap2l	FBGN0283666

Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), 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), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)

Protein

Protein identifiers

Ras-related protein Rap-2c — Q9Y3L5 (reviewed: Q9Y3L5)

All UniProt accessions (2): A0A087X2C3, Q9Y3L5

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. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May play a role in SRE-mediated gene transcription.

Subcellular location. Cytoplasm. Recycling endosome membrane.

Tissue specificity. Expressed in liver, skeletal muscle, prostate, uterus, rectum, stomach, and bladder and to a lower extent in brain, kidney, pancreas, and bone marrow. Expressed in mononuclear leukocytes and megakaryocytes.

Post-translational modifications. Palmitoylated. Palmitoylation is required for association with recycling endosome membranes and activation of TNIK.

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

RefSeq proteins (3): NP_001258115, NP_001258116, NP_067006 (=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)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3L5-F1	91.23	0.79

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: 367 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GGGACCA_MIR133A_MIR133B, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, CREL_01, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, GOBP_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY, AAGCAAT_MIR137, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_PHOSPHORYLATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_ENDOTHELIAL_INTESTINAL_BARRIER, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_SECRETORY_GRANULE

GO Biological Process (6): negative regulation of cell migration (GO:0030336), Rap protein signal transduction (GO:0032486), regulation of protein tyrosine kinase activity (GO:0061097), establishment of endothelial intestinal barrier (GO:0090557), signal transduction (GO:0007165), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (8): transcription coactivator activity (GO:0003713), GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (14): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), cell-cell contact zone (GO:0044291), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), endosome (GO:0005768), endomembrane system (GO:0012505), membrane (GO:0016020), 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	4
guanyl ribonucleotide binding	2
cytoplasmic vesicle	2
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
establishment of endothelial barrier	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
cell-cell junction	1
endosome membrane	1
recycling endosome	1
extracellular vesicle	1

Protein interactions and networks

STRING

2423 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAP2C	RAPGEF2	Q9Y4G8	629
RAP2C	EEFSEC	P57772	476
RAP2C	LRPAP1	P30533	469
RAP2C	FRMD7	Q6ZUT3	454
RAP2C	ADCY5	O95622	423
RAP2C	AGTR2	P50052	399
RAP2C	EBF1	Q9UH73	364
RAP2C	A0A494C0M2	A0A494C0M2	358
RAP2C	MBNL3	Q9NUK0	346
RAP2C	RAPGEF4	Q8WZA2	324
RAP2C	AFDN	P55196	319
RAP2C	F11R	Q9Y624	304
RAP2C	LDLRAD3	Q86YD5	293
RAP2C	TNIK	Q9UKE5	291
RAP2C	WNT4	P56705	286

IntAct

54 interactions, top by confidence:

A	B	Type	Score
RABGGTB	PTAR1	psi-mi:“MI:0914”(association)	0.920
RHOA	ARHGEF11	psi-mi:“MI:0914”(association)	0.900
RABGGTB	YKT6	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAP1GDS1	RAP2C	psi-mi:“MI:0915”(physical association)	0.560
RABGGTB	PIPSL	psi-mi:“MI:0914”(association)	0.530
RAP2C	MAP4K4	psi-mi:“MI:0914”(association)	0.530
SPCS3	ENTPD6	psi-mi:“MI:0914”(association)	0.530
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	ANKRD28	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
RAP2C	MAP4K4	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	CLIC1	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (80): CCT6A (Co-fractionation), DDX39A (Co-fractionation), RAB1A (Co-fractionation), RAB1B (Co-fractionation), RPS10 (Co-fractionation), RAP2C (Affinity Capture-MS), RAP2C (Affinity Capture-MS), MAP4K4 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), RAP2C (Affinity Capture-MS)

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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.

GO biological processes:

GO term	Partners	Fold	FDR
MAPK cascade	5	15.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1055 predictions. Top by Δscore:

Variant	Effect	Δscore
X:132214460:C:CT	acceptor_gain	1.0000
X:132217705:T:TA	donor_gain	1.0000
X:132217731:AGG:A	donor_gain	1.0000
X:132217910:GCTTA:G	donor_loss	1.0000
X:132217914:AC:A	donor_gain	1.0000
X:132217914:ACCCC:A	donor_loss	1.0000
X:132217915:C:CA	donor_loss	1.0000
X:132217915:CC:C	donor_gain	1.0000
X:132217915:CCCCG:C	donor_gain	1.0000
X:132214129:CTAA:C	donor_loss	0.9900
X:132214131:AACC:A	donor_loss	0.9900
X:132214132:ACCT:A	donor_loss	0.9900
X:132214133:CC:C	donor_loss	0.9900
X:132214443:TATC:T	acceptor_gain	0.9900
X:132214444:ATC:A	acceptor_gain	0.9900
X:132214444:ATCC:A	acceptor_loss	0.9900
X:132214445:TC:T	acceptor_gain	0.9900
X:132214446:CC:C	acceptor_gain	0.9900
X:132214447:C:CC	acceptor_gain	0.9900
X:132214456:C:CT	acceptor_gain	0.9900
X:132214457:A:T	acceptor_gain	0.9900
X:132214462:C:CT	acceptor_gain	0.9900
X:132216991:GTTAC:G	donor_loss	0.9900
X:132216992:TTA:T	donor_loss	0.9900
X:132216993:TACC:T	donor_loss	0.9900
X:132217914:A:AC	donor_gain	0.9900
X:132217914:ACC:A	donor_gain	0.9900
X:132217915:C:CC	donor_gain	0.9900
X:132217915:CCC:C	donor_gain	0.9900
X:132214133:CCTG:C	donor_gain	0.9800

AlphaMissense

1198 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:132214369:T:A	K117N	1.000
X:132214369:T:G	K117N	1.000
X:132214370:T:A	K117I	1.000
X:132217035:G:C	F78L	1.000
X:132217035:G:T	F78L	1.000
X:132217037:A:G	F78L	1.000
X:132217077:A:C	F64L	1.000
X:132217077:A:T	F64L	1.000
X:132217079:A:G	F64L	1.000
X:132217090:C:T	G60E	1.000
X:132217091:C:G	G60R	1.000
X:132217091:C:T	G60R	1.000
X:132217098:G:C	D57E	1.000
X:132217098:G:T	D57E	1.000
X:132217099:T:A	D57V	1.000
X:132217099:T:C	D57G	1.000
X:132217099:T:G	D57A	1.000
X:132217100:C:A	D57Y	1.000
X:132217100:C:G	D57H	1.000
X:132217100:C:T	D57N	1.000
X:132217102:A:G	L56P	1.000
X:132217111:A:G	L53P	1.000
X:132217185:G:C	F28L	1.000
X:132217185:G:T	F28L	1.000
X:132217187:A:G	F28L	1.000
X:132217213:A:G	L19P	1.000
X:132217222:T:A	K16I	1.000
X:132217223:T:G	K16Q	1.000
X:132217225:C:T	G15D	1.000
X:132217226:C:G	G15R	1.000

dbSNP variants (sampled 300 via entrez): RS1000105946 (X:132207160 A>G), RS1000124538 (X:132213112 A>G), RS1000761896 (X:132213823 C>A), RS1001315145 (X:132207322 G>A), RS1001344460 (X:132206497 T>A), RS1001681440 (X:132212996 C>T), RS1001799537 (X:132215653 T>A), RS1001891836 (X:132218864 T>C), RS1002117733 (X:132213590 A>G), RS1002179442 (X:132203741 AAAGTG>A), RS1002352215 (X:132203691 T>C), RS1002447657 (X:132216319 A>G,T), RS1002727866 (X:132204287 T>C), RS1002988734 (X:132209987 C>A), RS1003021247 (X:132209739 T>C)

Disease associations

OMIM: gene MIM:301016 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004899_2	Gestational age at birth (maternal effect)	3.000000e-09
GCST009158_27	Uterine fibroids	6.000000e-46

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005112	gestational age
EFO:0005939	parental genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067253 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.72	Kd	1914	nM	CHEMBL5653589
5.72	ED50	1914	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149193: Binding affinity to human RAP2C incubated for 45 mins by Kinobead based pull down assay	kd	1.9139	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
lead acetate	affects cotreatment, decreases expression	1
zinc protoporphyrin	decreases expression, affects cotreatment	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
ochratoxin A	affects binding	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
di-n-butylphosphoric acid	affects expression	1
10-decarbamoylmitomycin C	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Catechin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation	1
Particulate Matter	decreases expression, increases abundance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652235	Binding	Binding affinity to human RAP2C incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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