RFFL

Summary

RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase, HGNC:24821) is a protein-coding gene on chromosome 17q12, encoding E3 ubiquitin-protein ligase rififylin (Q8WZ73). E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins.

Enables enzyme binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in negative regulation of signal transduction; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein K48-linked ubiquitination. Located in endosome membrane and plasma membrane.

Source: NCBI Gene 117584 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001017368

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24821
Approved symbol	RFFL
Name	ring finger and FYVE like domain containing E3 ubiquitin protein ligase
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	rififylin, fring, RNF189, RNF34L, CARP2, CARP-2
Ensembl gene	ENSG00000092871
Ensembl biotype	protein_coding
OMIM	609735
Entrez	117584

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 42 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000315249, ENST00000394597, ENST00000413582, ENST00000414419, ENST00000415395, ENST00000447669, ENST00000580569, ENST00000581039, ENST00000581265, ENST00000582308, ENST00000584541, ENST00000584655, ENST00000910970, ENST00000910971, ENST00000910972, ENST00000910973, ENST00000910974, ENST00000910975, ENST00000910976, ENST00000910977, ENST00000910978, ENST00000910979, ENST00000910980, ENST00000910981, ENST00000910982, ENST00000910983, ENST00000910984, ENST00000910985, ENST00000910986, ENST00000910987, ENST00000910988, ENST00000910989, ENST00000910990, ENST00000932380, ENST00000932381, ENST00000932382, ENST00000932383, ENST00000948497, ENST00000948498, ENST00000948499, ENST00000948500, ENST00000948501, ENST00000948502, ENST00000948503, ENST00000948504

RefSeq mRNA: 1 — MANE Select: NM_001017368 NM_001017368

CCDS: CCDS11286

Canonical transcript exons

ENST00000394597 — 7 exons

Exon	Start	End
ENSE00001160691	35021371	35021781
ENSE00001377801	35026374	35026561
ENSE00001592140	35063576	35063707
ENSE00003583940	35017523	35017606
ENSE00003662582	35014740	35014763
ENSE00003670067	35016370	35016580
ENSE00003903522	35005990	35012149

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3439 / max 267.7466, expressed in 1768 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165337	7.9683	1696
165329	3.1522	1044
165336	0.4647	235
165335	0.2756	99
165334	0.1939	60
165333	0.0785	23
165326	0.0648	35
165331	0.0565	26
165330	0.0498	24
165332	0.0396	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	97.48	gold quality
inferior vagus X ganglion	UBERON:0005363	97.31	gold quality
esophagus squamous epithelium	UBERON:0006920	97.21	gold quality
secondary oocyte	CL:0000655	97.02	gold quality
epithelial cell of pancreas	CL:0000083	96.66	gold quality
oocyte	CL:0000023	96.56	gold quality
buccal mucosa cell	CL:0002336	95.78	gold quality
corpus callosum	UBERON:0002336	95.57	gold quality
ileal mucosa	UBERON:0000331	95.47	gold quality
spinal cord	UBERON:0002240	95.17	gold quality
amniotic fluid	UBERON:0000173	95.14	gold quality
subthalamic nucleus	UBERON:0001906	95.10	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.10	gold quality
medulla oblongata	UBERON:0001896	94.75	gold quality
medial globus pallidus	UBERON:0002477	94.66	gold quality
globus pallidus	UBERON:0001875	94.48	gold quality
bone marrow cell	CL:0002092	94.45	gold quality
oral cavity	UBERON:0000167	94.30	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.14	gold quality
jejunal mucosa	UBERON:0000399	93.42	gold quality
ganglionic eminence	UBERON:0004023	93.30	gold quality
blood	UBERON:0000178	93.18	gold quality
superior vestibular nucleus	UBERON:0007227	93.05	gold quality
trabecular bone tissue	UBERON:0002483	93.02	gold quality
colonic epithelium	UBERON:0000397	92.85	gold quality
palpebral conjunctiva	UBERON:0001812	92.73	gold quality
bone marrow	UBERON:0002371	92.70	gold quality
lateral globus pallidus	UBERON:0002476	92.69	gold quality
gingiva	UBERON:0001828	92.57	gold quality
tonsil	UBERON:0002372	92.57	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-75367	no	305.78
E-ANND-3	no	5.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GNA12

Literature-anchored findings (GeneRIF, showing 8)

• CARPs together with MDM2 enhance p53 degradation, thereby inhibiting p53-mediated cell death. (PMID:18382127)
• acts at the level of endocytic vesicles to limit the intensity of TNF-induced NF-kappaB activation by the regulated elimination of a necessary signaling component within the receptor complex (PMID:18450452)
• data indicate AE induces caspase-8-mediated activation of mitochondrial death pathways by decreasing the stability of CARP mRNAs in a p53-independent manner. (PMID:21308745)
• EGF, which signals through CRAF, and an activated BRAF mutant also activate PKC and stimulate cell migration through up-regulating RFFL expression. (PMID:24114843)
• it is interesting to note that a human lncRNA does exist within the 5’-UTR intronic region of the human RFFL gene . Given the rat data, our study may serve as a translational foundation for considering this human lncRNA as a candidate regulator for cardiovascular diseases. (PMID:28827789)
• RFFL is an important regulator of voltage-gated hERG potassium channel activity and therefore cardiac repolarization and that this ubiquitination-mediated regulation requires parts of the ERAD pathway. (PMID:30401747)
• The integral function of the endocytic recycling compartment is regulated by RFFL-mediated ubiquitylation of Rab11 effectors. (PMID:30659120)
• E3 ubiquitin ligase rififylin has yin and yang effects on rabbit cardiac transient outward potassium currents (Ito) and corresponding channel proteins. (PMID:38367666)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rffl	ENSDARG00000042833
danio_rerio	RFFL	ENSDARG00000056244
mus_musculus	Rffl	ENSMUSG00000020696
rattus_norvegicus	Rffl	ENSRNOG00000007596
drosophila_melanogaster	CG17019	FBGN0033783

Paralogs (1): RNF34 (ENSG00000170633)

Protein

Protein identifiers

E3 ubiquitin-protein ligase rififylin — Q8WZ73 (reviewed: Q8WZ73)

Alternative names: Caspase regulator CARP2, Caspases-8 and -10-associated RING finger protein 2, FYVE-RING finger protein Sakura, RING finger and FYVE-like domain-containing protein 1, RING finger protein 189, RING finger protein 34-like, RING-type E3 ubiquitin transferase rififylin

All UniProt accessions (5): Q8WZ73, C9JE27, J3KSI3, J3KSU7, J3QR17

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates ‘Lys-48’-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor necrosis factor-mediated signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN. May also play a role in endocytic recycling.

Subunit / interactions. Interacts with CASP8 and CASP10. Interacts with RIPK1 (via protein kinase domain); involved in RIPK1 ubiquitination. Interacts with PRR5L. Interacts (via RING-type zinc finger) with p53/TP53; involved in p53/TP53 ubiquitination. Interacts (via RING-type zinc finger) with MDM2; the interaction stabilizes MDM2.

Subcellular location. Cytoplasm. Cytosol. Cell membrane. Recycling endosome membrane.

Tissue specificity. Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.

Post-translational modifications. Autoubiquitinated. Palmitoylated. Undergoes caspase-mediated cleavage upon death-receptor activation, by TNFSF10 for instance. May be mediated by the caspases CASP8 and CASP10 in a negative feedback loop.

Domain organisation. The RING-type zinc finger is required for the ubiquitination of target proteins. The FYVE-type zinc finger domain is required for localization to the recycling endosome membranes and the function in endocytic recycling.

Induction. Down-regulated upon DNA damage.

Pathway. Protein modification; protein ubiquitination.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WZ73-1	1	yes
Q8WZ73-2	2
Q8WZ73-3	3

RefSeq proteins (1): NP_001017368* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR036361	SAP_dom_sf	Homologous_superfamily
IPR049320	CARP1_2_FYVE	Domain
IPR049322	CARP2_FYVE	Domain
IPR051728	RING-FYVE_E3_ubiquitin-ligase	Family
IPR055111	RNF34_RFFL_HeH	Domain
IPR057299	RNF34_RFFL_SAP	Domain

Pfam: PF13920, PF21272, PF22968, PF23632

UniProt features (24 total): helix 6, modified residue 4, turn 3, domain 2, splice variant 2, zinc finger region 2, chain 1, mutagenesis site 1, sequence conflict 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1Y02	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WZ73-F1	72.09	0.48

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 (4): 240, 226, 229, 232

Mutagenesis-validated functional residues (1):

Position	Phenotype
333	loss of e3 ubiquitin protein ligase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6804757	Regulation of TP53 Degradation

MSigDB gene sets: 199 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, AREB6_01, GOBP_REGULATION_OF_FIBROBLAST_MIGRATION, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GTGCCTT_MIR506, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS, GOBP_APOPTOTIC_SIGNALING_PATHWAY, FOSTER_TOLERANT_MACROPHAGE_UP

GO Biological Process (12): ubiquitin-dependent protein catabolic process (GO:0006511), intracellular protein transport (GO:0006886), apoptotic process (GO:0006915), regulation of fibroblast migration (GO:0010762), negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804), regulation of TOR signaling (GO:0032006), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), regulation of signal transduction by p53 class mediator (GO:1901796), negative regulation of signal transduction by p53 class mediator (GO:1901797), negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042), protein ubiquitination (GO:0016567)

GO Molecular Function (9): protease binding (GO:0002020), p53 binding (GO:0002039), zinc ion binding (GO:0008270), protein kinase binding (GO:0019901), ubiquitin protein ligase binding (GO:0031625), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (9): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), recycling endosome membrane (GO:0055038), endosome (GO:0005768), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of TP53 Expression and Degradation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
regulation of intracellular signal transduction	2
signal transduction by p53 class mediator	2
cytoplasm	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
fibroblast migration	1
regulation of cell migration	1
negative regulation of cytokine-mediated signaling pathway	1
regulation of tumor necrosis factor-mediated signaling pathway	1
tumor necrosis factor-mediated signaling pathway	1
TOR signaling	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein polyubiquitination	1
regulation of signal transduction by p53 class mediator	1
negative regulation of intracellular signal transduction	1
extrinsic apoptotic signaling pathway via death domain receptors	1
regulation of extrinsic apoptotic signaling pathway via death domain receptors	1
negative regulation of extrinsic apoptotic signaling pathway	1
protein modification by small protein conjugation	1
enzyme binding	1
protein binding	1
transition metal ion binding	1
kinase binding	1
ubiquitin-like protein ligase binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
nuclear lumen	1
intracellular anatomical structure	1
membrane	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RFFL	UXT	Q9UBK9	764
RFFL	RNF207	Q6ZRF8	609
RFFL	MYRF	Q9Y2G1	597
RFFL	TFRC	P02786	572
RFFL	PIK3CG	P48736	491
RFFL	DNAJB12	Q9NXW2	471
RFFL	TPRA1	Q86W33	438
RFFL	GINS3	Q9BRX5	436
RFFL	ACTR5	Q9H9F9	435
RFFL	PRRG1	O14668	432
RFFL	DNAJB14	Q8TBM8	428
RFFL	MARCHF2	Q9P0N8	410
RFFL	RNF185	Q96GF1	408
RFFL	CANX	P27824	394
RFFL	LITAF	Q99732	392

IntAct

7 interactions, top by confidence:

A	B	Type	Score
RFFL	TUSC2	psi-mi:“MI:0914”(association)	0.530
CASP8	RFFL	psi-mi:“MI:0915”(physical association)	0.400
UBE2G2	RFFL	psi-mi:“MI:0915”(physical association)	0.370
RFFL	EFCAB7	psi-mi:“MI:0914”(association)	0.350

BioGRID (128): RIPK1 (Biochemical Activity), RIPK1 (Affinity Capture-Western), RFFL (Affinity Capture-Western), UBE2D1 (Reconstituted Complex), NEFH (Affinity Capture-MS), IQCE (Affinity Capture-MS), PRKD2 (Affinity Capture-MS), RNF34 (Affinity Capture-MS), SHC1 (Affinity Capture-MS), EFCAB7 (Affinity Capture-MS), SHC1 (Affinity Capture-MS), IQCE (Affinity Capture-MS), PRKD2 (Affinity Capture-MS), EFCAB7 (Affinity Capture-MS), RFFL (Affinity Capture-RNA)

ESM2 similar proteins: A0A1L8GLK3, A0A974CYQ5, A2AHJ4, A5WW08, D2HNY3, D2HWM5, E7F6T8, F1ND48, O15040, O70260, O95071, P59328, Q3TLR7, Q4V837, Q58DC2, Q58WW2, Q5E9J6, Q5F479, Q5FWP4, Q5NVC7, Q5R9B8, Q5RF77, Q5RGA4, Q5RHI5, Q5ZLG9, Q62671, Q66JG1, Q6DDH2, Q6P1W0, Q6P256, Q6PCD5, Q6PJI9, Q6RI45, Q80TP3, Q80U93, Q810L3, Q8C0M0, Q8CBW4, Q8CIK8, Q8CIN9

Diamond homologs: A1L3F4, A8MQ27, O60291, O76050, Q0MW30, Q0WS06, Q3TEL6, Q557E7, Q5M870, Q5XIQ4, Q69Z36, Q6INH1, Q6ZN04, Q6ZQM0, Q7ZUL9, Q8CIN9, Q8CJC5, Q8VCM5, Q8WZ73, Q923S6, Q94HV7, Q96EH8, Q96PX1, Q9BR09, Q9D074, Q9D0S4, B3H754, F4ISV9, Q24306, Q4FE47, Q6DBH0, Q7XI08, Q9FPH0, Q9SYH3, Q4R7G8, Q5E9J6, Q5M7X9, Q5NVC7, Q6AYH3, Q6NTT6

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RFFL	ubiquitination
RFFL	“down-regulates quantity by destabilization”	RIPK1	ubiquitination
RFFL	“down-regulates quantity by destabilization”	PRR5L	polyubiquitination
GNA12	“up-regulates quantity by expression”	RFFL	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

2367 predictions. Top by Δscore:

Variant	Effect	Δscore
17:35011934:C:A	donor_gain	1.0000
17:35012003:A:AC	donor_gain	1.0000
17:35012004:C:CC	donor_gain	1.0000
17:35016368:AC:A	donor_gain	1.0000
17:35016369:CC:C	donor_gain	1.0000
17:35016383:T:TA	donor_gain	1.0000
17:35016393:T:TA	donor_gain	1.0000
17:35016576:ATAGA:A	acceptor_gain	1.0000
17:35016577:TAGA:T	acceptor_gain	1.0000
17:35016578:AGA:A	acceptor_gain	1.0000
17:35016579:GA:G	acceptor_gain	1.0000
17:35016579:GACTG:G	acceptor_loss	1.0000
17:35016580:ACT:A	acceptor_loss	1.0000
17:35016580:ACTG:A	acceptor_loss	1.0000
17:35016581:C:CC	acceptor_gain	1.0000
17:35016582:T:C	acceptor_loss	1.0000
17:35016582:T:G	acceptor_loss	1.0000
17:35017519:CCA:C	donor_loss	1.0000
17:35017521:A:AG	donor_loss	1.0000
17:35017532:AT:A	donor_gain	1.0000
17:35017533:T:TA	donor_gain	1.0000
17:35017602:TTGGC:T	acceptor_gain	1.0000
17:35017603:TGGC:T	acceptor_gain	1.0000
17:35017604:GGC:G	acceptor_gain	1.0000
17:35017605:GC:G	acceptor_gain	1.0000
17:35017605:GCC:G	acceptor_loss	1.0000
17:35017606:CCT:C	acceptor_loss	1.0000
17:35017606:CCTG:C	acceptor_gain	1.0000
17:35017607:C:A	acceptor_loss	1.0000
17:35017607:C:CC	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000026246 (17:35030608 T>C), RS1000037223 (17:35018726 G>A), RS1000058779 (17:35039382 G>A), RS1000060753 (17:35077921 G>A,C), RS1000066561 (17:35069720 T>C), RS1000111836 (17:35032866 G>A,C), RS1000144392 (17:35032498 C>T), RS1000155622 (17:35088844 C>T), RS1000160407 (17:35037347 G>A), RS1000192913 (17:35070644 T>C), RS1000196613 (17:35005931 G>A), RS1000226574 (17:35051492 A>G), RS1000286946 (17:35082759 C>T), RS1000300599 (17:35076355 C>T), RS1000306462 (17:35044926 C>G)

Disease associations

OMIM: gene MIM:609735 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000363_4	QT interval	6.000000e-12
GCST003542_133	Night sleep phenotypes	4.000000e-07
GCST008388_2	Acute post-radiotherapy pain in breast cancer	2.000000e-06
GCST010796_5384	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-10
GCST010796_5385	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_5386	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_5387	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_5388	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_5389	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_5390	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_5391	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_5392	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_5393	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5394	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5395	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_5396	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_5397	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_5398	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_5399	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_5400	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, decreases expression	6
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases stability, affects cotreatment, increases abundance, increases expression	3
Benzo(a)pyrene	affects methylation, increases expression	3
bisphenol A	affects expression, increases expression	2
Arsenic	affects cotreatment, increases abundance, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TL8-506	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
chloroacetaldehyde	affects expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
14-deoxy-11,12-didehydroandrographolide	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC668394	increases expression	1
Bortezomib	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Cidofovir	increases expression	1
Acetaminophen	decreases expression	1
Cadmium	increases expression	1

Clinical trials (associated diseases)

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