RNF114

Summary

RNF114 (ring finger protein 114, HGNC:13094) is a protein-coding gene on chromosome 20q13.13, encoding E3 ubiquitin-protein ligase RNF114 (Q9Y508). E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates.

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol and plasma membrane. Biomarker of male infertility.

Source: NCBI Gene 55905 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 41 total
• Druggable target: yes
• MANE Select transcript: NM_018683

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13094
Approved symbol	RNF114
Name	ring finger protein 114
Location	20q13.13
Locus type	gene with protein product
Status	Approved
Aliases	PSORS12
Ensembl gene	ENSG00000124226
Ensembl biotype	protein_coding
OMIM	612451
Entrez	55905

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 12 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000244061, ENST00000622920, ENST00000622999, ENST00000623528, ENST00000623732, ENST00000624620, ENST00000624666, ENST00000625177, ENST00000891718, ENST00000891719, ENST00000891720, ENST00000891721, ENST00000891722, ENST00000917362, ENST00000917363, ENST00000917364, ENST00000953155

RefSeq mRNA: 1 — MANE Select: NM_018683 NM_018683

CCDS: CCDS33482

Canonical transcript exons

ENST00000244061 — 6 exons

Exon	Start	End
ENSE00000845593	49941561	49941711
ENSE00000845594	49945382	49945488
ENSE00000845595	49946136	49946250
ENSE00000845596	49949248	49949355
ENSE00001039186	49952076	49953885
ENSE00003758441	49936397	49936552

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 96.4877 / max 833.6844, expressed in 1828 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185194	96.4877	1828

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.63	gold quality
secondary oocyte	CL:0000655	99.57	gold quality
left testis	UBERON:0004533	99.18	gold quality
right testis	UBERON:0004534	99.06	gold quality
testis	UBERON:0000473	98.18	gold quality
pancreatic ductal cell	CL:0002079	98.06	gold quality
palpebral conjunctiva	UBERON:0001812	96.60	gold quality
sperm	CL:0000019	96.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.41	gold quality
epithelium of nasopharynx	UBERON:0001951	96.37	gold quality
nasopharynx	UBERON:0001728	96.35	gold quality
monocyte	CL:0000576	96.30	gold quality
renal glomerulus	UBERON:0000074	96.26	gold quality
gastrocnemius	UBERON:0001388	96.24	gold quality
male germ cell	CL:0000015	96.16	gold quality
mononuclear cell	CL:0000842	96.07	gold quality
muscle of leg	UBERON:0001383	96.00	gold quality
amniotic fluid	UBERON:0000173	95.99	gold quality
leukocyte	CL:0000738	95.98	gold quality
metanephric glomerulus	UBERON:0004736	95.89	gold quality
eye	UBERON:0000970	95.77	gold quality
nephron tubule	UBERON:0001231	95.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.73	gold quality
germinal epithelium of ovary	UBERON:0001304	95.58	gold quality
visceral pleura	UBERON:0002401	95.51	gold quality
tibia	UBERON:0000979	95.45	gold quality
rectum	UBERON:0001052	95.27	gold quality
cortex of kidney	UBERON:0001225	95.26	gold quality
parietal pleura	UBERON:0002400	95.25	gold quality
pleura	UBERON:0000977	95.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	29.45
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF436

miRNA regulators (miRDB)

87 targeting RNF114, 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-574-5P	100.00	66.01	989
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-519A-3P	99.67	71.67	1868

Literature-anchored findings (GeneRIF, showing 11)

• ZNF313 is a novel psoriasis susceptibility gene. (PMID:18364390)
• ZNF313 is controlled at the transcriptional level, and a common mechanism controlling the basal transcription of ZNF313 gene exists. (PMID:20515446)
• RNF114 regulates a positive feedback loop that enhances double-stranded RNA induced production of type I interferon. (PMID:21571784)
• Rare disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene have been identified. (PMID:22205304)
• A single nucleotide plymorphism had an association with psoriasis in this Chinese Uygur population: SNP rs495337 in the gene encoding for zinc finger protein 313 (P < 0.001; OR = 0.80) (PMID:23617596)
• ZNF313 is a novel cell cycle activator with an E3 ligase activity inhibiting cellular senescence by destabilizing p21(WAF1.). (PMID:23645206)
• RNF114 over-expression had a promotion effect on T cell activation with an average 43.97% increment and the upregulatory roles showed a dose-dependent effect with 18.44% increment. (PMID:24631332)
• RNF114 is a new partner of A2O involved in the regulation of NF-kappaB activity that contributes to the control of signaling pathways modulating T cell-mediated immune response. (PMID:25165885)
• XAF1 stimulates HIPK2-mediated Ser-46 phosphorylation of p53 and XAF1 also steps up the termination of p53-mediated cell-cycle arrest by activating ZNF313. (PMID:25313037)
• E3 ubiquitin ligase RNF114 promotes vesicular stomatitis virus replication via inhibiting type I interferon production. (PMID:35545202)
• RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer. (PMID:37523804)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf114	ENSDARG00000009886
mus_musculus	Rnf114	ENSMUSG00000006418

Paralogs (4): RNF125 (ENSG00000101695), RNF138 (ENSG00000134758), RNF166 (ENSG00000158717), RNF180 (ENSG00000164197)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF114 — Q9Y508 (reviewed: Q9Y508)

Alternative names: RING finger protein 114, RING-type E3 ubiquitin transferase RNF114, Zinc finger protein 228, Zinc finger protein 313

All UniProt accessions (6): A0A096LNN8, A0A096LNT1, A0A096LNV3, A0A096LP02, A0A096LPF9, Q9Y508

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates. In turn, participates in the regulation of many biological processes including cell cycle, apoptosis, osteoclastogenesis as well as innate or adaptive immunity. Acts as a negative regulator of NF-kappa-B-dependent transcription by promoting the ubiquitination and stabilization of the NF-kappa-B inhibitor TNFAIP3. May promote the ubiquitination of TRAF6 as well. Also acts as a negative regulator of T-cell activation. Inhibits cellular dsRNA responses and interferon production by targeting MAVS component for proteasomal degradation. Ubiquitinates the CDK inhibitor CDKN1A leading to its degradationand probably also CDKN1B and CDKN1C. This activity stimulates cell cycle G1-to-S phase transition and suppresses cellular senescence. May play a role in spermatogenesis.

Subunit / interactions. Interacts with XAF1, the interaction increases XAF1 stability and proapoptotic effects, and may regulate IFN signaling.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in numerous tissues, including skin, CD4 lymphocytes and dendritic cells. Highest levels in testis.

Post-translational modifications. Autoubiquitinated. Polyubiquitinated in the presence of E2 enzymes UBE2D1, UBE2D2 and UBE2D3, but only monoubiquitinated in the presence of UBE2E1.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y508-1	1	yes
Q9Y508-2	2

RefSeq proteins (1): NP_061153* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR008598	Di19_Zn-bd	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR034734	ZF_C2HC_RNF	Domain
IPR042716	RNF114_RING-HC	Domain
IPR051438	RNF_E3_ubiq-protein_ligase	Family

Pfam: PF05605, PF13445, PF18574

UniProt features (15 total): sequence conflict 4, binding site 4, zinc finger region 2, splice variant 2, modified residue 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y508-F1	84.23	0.57

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 (4): 91; 94; 106; 110

Post-translational modifications (2): 102, 112

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 205 (showing top): MORF_RAB5A, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GTGCCTT_MIR506, MARTINEZ_RB1_TARGETS_UP, MORF_PPP6C, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, VANTVEER_BREAST_CANCER_ESR1_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

GO Biological Process (5): protein polyubiquitination (GO:0000209), ubiquitin-dependent protein catabolic process (GO:0006511), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), protein ubiquitination (GO:0016567)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	2
cellular anatomical structure	2
modification-dependent protein catabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
protein modification by small protein conjugation	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

917 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF114	DCAF16	Q9NXF7	790
RNF114	UBQLN4	Q9NRR5	736
RNF114	RNF4	P78317	691
RNF114	TNIP1	Q15025	593
RNF114	DCAF15	Q66K64	545
RNF114	TRAF3IP2	O43734	544
RNF114	CRBN	Q96SW2	537
RNF114	LCE3B	Q5TA77	507
RNF114	ERAP1	Q9NZ08	507
RNF114	TNFAIP3	P21580	490
RNF114	KEAP1	Q14145	487
RNF114	FBXL19	Q6PCT2	479
RNF114	LCE3C	Q5T5A8	477
RNF114	CARD14	Q9BXL6	474
RNF114	CD4	P01730	455

IntAct

92 interactions, top by confidence:

A	B	Type	Score
MED7	MED19	psi-mi:“MI:0914”(association)	0.840
XAF1	RNF114	psi-mi:“MI:0915”(physical association)	0.670
XAF1	AKT1	psi-mi:“MI:0914”(association)	0.670
SDF4	ACAD11	psi-mi:“MI:0914”(association)	0.640
RNF114	UBE2D1	psi-mi:“MI:0915”(physical association)	0.620
UBE2D2	RNF114	psi-mi:“MI:0915”(physical association)	0.620
AUP1	APOB	psi-mi:“MI:0914”(association)	0.610
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
RNF114	UBE2K	psi-mi:“MI:0915”(physical association)	0.560
RNF114	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
RNF114	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	RNF114	psi-mi:“MI:0915”(physical association)	0.560
LMO3	RNF114	psi-mi:“MI:0915”(physical association)	0.560
TNFAIP3	UBB	psi-mi:“MI:0914”(association)	0.530
UBE2D2	UBB	psi-mi:“MI:0914”(association)	0.530
PARP12	GCLM	psi-mi:“MI:0914”(association)	0.530
CD93	RARS1	psi-mi:“MI:0914”(association)	0.530
DTX3	ITSN1	psi-mi:“MI:0914”(association)	0.530

BioGRID (182): RNF114 (Two-hybrid), RNF114 (Reconstituted Complex), TNFAIP3 (Affinity Capture-Western), RNF114 (Affinity Capture-Western), XAF1 (Affinity Capture-Western), XAF1 (Reconstituted Complex), RNF114 (Reconstituted Complex), RNF114 (Biochemical Activity), RNF114 (Affinity Capture-MS), RNF114 (Affinity Capture-MS), RNF114 (Biochemical Activity), USO1 (Affinity Capture-MS), IDI2 (Affinity Capture-MS), RNF114 (Affinity Capture-MS), RNF114 (Affinity Capture-MS)

ESM2 similar proteins: A1E2V0, A2AWP0, A5D8Q0, A9JTG5, A9JTP3, A9ULZ2, B0F0H3, E6ZIJ1, O08863, O14976, O62640, P36407, P39429, P55055, P97874, P98150, P98170, Q00653, Q13077, Q13489, Q13490, Q1L5Z9, Q1L8G6, Q24307, Q3MV19, Q4KM32, Q4U5R4, Q5BKL8, Q5NU13, Q5T124, Q60989, Q62210, Q62219, Q6GLD9, Q6IWL4, Q6J1I8, Q6ZPS6, Q7ZVM9, Q8C6G1, Q8C7M3

Diamond homologs: B0BLU1, E7FAP1, F6UA42, P15533, P15918, P24271, Q1L721, Q1LZE1, Q32LN5, Q3KPU8, Q3U9F6, Q4U5R4, Q5F3B2, Q6GPB6, Q6INS5, Q6J1I7, Q6J1I8, Q6J212, Q6J2U6, Q7T321, Q80UY2, Q8R0K2, Q8WVD3, Q91829, Q95KF1, Q95RX5, Q96A37, Q96EQ8, Q99PD2, Q9BZY9, Q9CQE0, Q9D9R0, Q9ET26, Q9FF61, Q9P0J7, Q9Y508, B9G2A8, O95714, P34664, Q4U2R1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF114	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	10	56.7×	5e-13
TICAM1, RIP1-mediated IKK complex recruitment	5	46.2×	1e-05
IKK complex recruitment mediated by RIP1	5	38.2×	2e-05
Negative regulators of DDX58/IFIH1 signaling	6	30.1×	9e-06
Regulation of TNFR1 signaling	5	17.2×	1e-03
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	5	15.2×	2e-03
E3 ubiquitin ligases ubiquitinate target proteins	5	14.9×	2e-03
FCERI mediated NF-kB activation	5	12.0×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein K11-linked ubiquitination	6	25.6×	2e-05
protein K48-linked ubiquitination	11	20.1×	5e-09
protein monoubiquitination	5	18.7×	9e-04
protein polyubiquitination	10	12.6×	3e-06
ubiquitin-dependent protein catabolic process	11	8.9×	1e-05
protein ubiquitination	13	5.8×	5e-05
proteasome-mediated ubiquitin-dependent protein catabolic process	9	5.1×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

957 predictions. Top by Δscore:

Variant	Effect	Δscore
20:49936551:GT:G	donor_gain	1.0000
20:49936553:G:GG	donor_gain	1.0000
20:49941708:GAAT:G	donor_gain	1.0000
20:49941712:G:GG	donor_gain	1.0000
20:49941719:G:GT	donor_gain	1.0000
20:49941730:G:GT	donor_gain	1.0000
20:49941751:GA:G	donor_gain	1.0000
20:49941752:A:AG	donor_gain	1.0000
20:49945375:A:AG	acceptor_gain	1.0000
20:49945375:ATTT:A	acceptor_gain	1.0000
20:49945376:T:G	acceptor_gain	1.0000
20:49945378:T:A	acceptor_gain	1.0000
20:49946119:T:TA	acceptor_gain	1.0000
20:49946121:T:TA	acceptor_gain	1.0000
20:49946127:A:AG	acceptor_gain	1.0000
20:49946128:C:G	acceptor_gain	1.0000
20:49946130:TTCCA:T	acceptor_loss	1.0000
20:49946131:TCCAG:T	acceptor_loss	1.0000
20:49946132:CCAGG:C	acceptor_loss	1.0000
20:49946133:CAGGA:C	acceptor_loss	1.0000
20:49946134:A:AG	acceptor_gain	1.0000
20:49946134:AG:A	acceptor_gain	1.0000
20:49946134:AGG:A	acceptor_loss	1.0000
20:49946135:G:A	acceptor_loss	1.0000
20:49946135:G:GC	acceptor_gain	1.0000
20:49946135:GG:G	acceptor_gain	1.0000
20:49946135:GGA:G	acceptor_gain	1.0000
20:49946135:GGAA:G	acceptor_gain	1.0000
20:49946135:GGAAT:G	acceptor_gain	1.0000
20:49946246:CTGTG:C	donor_gain	1.0000

AlphaMissense

1503 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:49936497:T:C	C29R	0.999
20:49941562:T:C	F48L	0.999
20:49941564:T:A	F48L	0.999
20:49941564:T:G	F48L	0.999
20:49946164:T:C	C143R	0.999
20:49949251:T:C	C173R	0.999
20:49936498:G:A	C29Y	0.998
20:49936506:T:A	C32S	0.998
20:49936506:T:C	C32R	0.998
20:49936507:G:C	C32S	0.998
20:49941565:T:C	C49R	0.998
20:49941567:C:G	C49W	0.998
20:49941574:T:C	C52R	0.998
20:49941610:T:C	C64R	0.998
20:49945418:T:C	C110R	0.998
20:49946158:T:C	F141L	0.998
20:49946160:T:A	F141L	0.998
20:49946160:T:G	F141L	0.998
20:49946204:T:C	L156P	0.998
20:49949260:T:C	C176R	0.998
20:49949261:G:A	C176Y	0.998
20:49949262:T:G	C176W	0.998
20:49936499:T:G	C29W	0.997
20:49936507:G:A	C32Y	0.997
20:49936508:C:G	C32W	0.997
20:49941563:T:C	F48S	0.997
20:49941563:T:G	F48C	0.997
20:49941565:T:A	C49S	0.997
20:49941566:G:A	C49Y	0.997
20:49941566:G:C	C49S	0.997

dbSNP variants (sampled 300 via entrez): RS1000052460 (20:49950047 C>T), RS1000076915 (20:49939153 G>C), RS1000088092 (20:49941108 G>A), RS1000256355 (20:49938467 T>C), RS1000338503 (20:49950389 T>G), RS1000366401 (20:49944716 A>G), RS1000488441 (20:49937868 G>A), RS1000533188 (20:49939520 T>C), RS1000712057 (20:49945923 C>G,T), RS1000844717 (20:49947459 T>A), RS1000895550 (20:49947157 T>C,G), RS1000955722 (20:49947895 C>T), RS1001209455 (20:49937191 T>A), RS1001225639 (20:49939628 C>T), RS1001302875 (20:49936907 C>G,T)

Disease associations

OMIM: gene MIM:612451 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000833_17	Psoriasis	2.000000e-06
GCST000834_7	Psoriasis	2.000000e-07
GCST002463_25	Systemic lupus erythematosus	1.000000e-11
GCST002738_8	Psoriasis	3.000000e-09
GCST002740_59	Inflammatory skin disease	5.000000e-11
GCST002874_61	Psoriasis	2.000000e-07
GCST002874_62	Psoriasis	2.000000e-06
GCST003268_11	Psoriasis vulgaris	2.000000e-12
GCST003876_14	Gut microbiota (beta diversity)	5.000000e-08
GCST005527_20	Psoriasis	2.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:1001494	psoriasis vulgaris
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL5169207 (SINGLE PROTEIN), CHEMBL6193834 (PROTEIN-PROTEIN INTERACTION)

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

ChEMBL bioactivities

6 potent at pChembl≥5 of 6 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.62	IC50	240	nM	CHEMBL5218793
6.62	IC50	240	nM	CHEMBL5265809
6.33	IC50	470	nM	CHEMBL5274261
6.14	IC50	730	nM	NIMBOLIDE

PubChem BioAssay actives

4 with measured affinity, of 4 total; 3 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
methyl 2-[(1S,2S,4S,9S,10S,11R,15R,18R)-6-[2-[4-[3-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]propylcarbamoyl]phenyl]furan-3-yl]-7,9,11,15-tetramethyl-12,16-dioxo-17-oxapentacyclo[9.6.1.02,9.04,8.015,18]octadeca-7,13-dien-10-yl]acetate	1917830: Inhibition of RNF114 (unknown origin)	ic50	0.2400	uM
methyl 2-[(2S,4R,6R,9R,10S,11R,15R,18R)-6-[2-[4-[3-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-4,7,10,12-tetraen-9-yl]acetyl]amino]propylcarbamoyl]phenyl]furan-3-yl]-7,9,11,15-tetramethyl-12,16-dioxo-3,17-dioxapentacyclo[9.6.1.02,9.04,8.015,18]octadeca-7,13-dien-10-yl]acetate	1921380: Binding affinity to RNF114 (unknown origin)	ic50	0.2400	uM
1-[3,5-bis(4-bromophenyl)-3,4-dihydropyrazol-2-yl]-2-chloroethanone	1939923: Inhibition of RNF114 (unknown origin)	ic50	0.4700	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases methylation, increases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	decreases expression, affects cotreatment	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
afimoxifene	decreases expression	1
sodium arsenite	increases expression	1
cylindrospermopsin	increases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methotrexate	increases expression	1
Methyl Methanesulfonate	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5217352	Binding	Inhibition of RNF114 (unknown origin)	Natural Product-Inspired Targeted Protein Degraders: Advances and Perspectives. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0YQ	Ubigene MDA-MB-231 RNF114 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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