UFSP2

Summary

UFSP2 (UFM1 specific peptidase 2, HGNC:25640) is a protein-coding gene on chromosome 4q35.1, encoding Ufm1-specific protease 2 (Q9NUQ7). Thiol-dependent isopeptidase that specifically cleaves UFM1, a ubiquitin-like modifier protein, from conjugated proteins, such as CD274/PD-L1, CYB5R3, DDRGK1, MRE11, RPL26/uL24, TRIP4 and RPL26/uL24.

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55325 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spondyloepimetaphyseal dysplasia, di rocco type (Strong, GenCC) — +3 more curated relationships
• Clinical variants (ClinVar): 51 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 90
• MANE Select transcript: NM_018359

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25640
Approved symbol	UFSP2
Name	UFM1 specific peptidase 2
Location	4q35.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11200
Ensembl gene	ENSG00000109775
Ensembl biotype	protein_coding
OMIM	611482
Entrez	55325

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 12 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000264689, ENST00000502282, ENST00000502428, ENST00000505357, ENST00000509180, ENST00000510206, ENST00000510755, ENST00000511485, ENST00000514247, ENST00000864567, ENST00000864568, ENST00000864569, ENST00000864570, ENST00000864571, ENST00000913615, ENST00000913616, ENST00000913617

RefSeq mRNA: 1 — MANE Select: NM_018359 NM_018359

CCDS: CCDS3842

Canonical transcript exons

ENST00000264689 — 12 exons

Exon	Start	End
ENSE00001083609	185422485	185422563
ENSE00001283445	185399537	185400478
ENSE00002033718	185425866	185425964
ENSE00003520656	185403494	185403618
ENSE00003531586	185418441	185418507
ENSE00003545892	185415710	185415867
ENSE00003549503	185418587	185418770
ENSE00003575327	185407936	185408060
ENSE00003627945	185413726	185413872
ENSE00003649798	185408271	185408435
ENSE00003669833	185405780	185405856
ENSE00003674850	185415155	185415347

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 96.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4543 / max 199.4382, expressed in 1785 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55256	7.2770	1687
55254	5.3183	1507
55255	1.5500	1040
55253	0.3090	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.71	gold quality
triceps brachii	UBERON:0001509	95.38	gold quality
tendon	UBERON:0000043	95.30	gold quality
left ovary	UBERON:0002119	94.56	gold quality
muscle of leg	UBERON:0001383	94.55	gold quality
ventricular zone	UBERON:0003053	94.43	gold quality
gastrocnemius	UBERON:0001388	94.30	gold quality
muscle organ	UBERON:0001630	94.17	gold quality
skeletal muscle organ	UBERON:0014892	94.17	gold quality
right ovary	UBERON:0002118	94.14	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.13	gold quality
ovary	UBERON:0000992	94.06	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.03	gold quality
descending thoracic aorta	UBERON:0002345	93.66	gold quality
gluteal muscle	UBERON:0002000	93.61	gold quality
skeletal muscle tissue	UBERON:0001134	93.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.55	gold quality
germinal epithelium of ovary	UBERON:0001304	93.45	gold quality
parietal pleura	UBERON:0002400	93.43	gold quality
popliteal artery	UBERON:0002250	93.40	gold quality
tibial artery	UBERON:0007610	93.40	gold quality
right coronary artery	UBERON:0001625	93.39	gold quality
vastus lateralis	UBERON:0001379	93.36	gold quality
tendon of biceps brachii	UBERON:0008188	93.26	gold quality
aorta	UBERON:0000947	93.24	gold quality
thoracic aorta	UBERON:0001515	93.12	gold quality
artery	UBERON:0001637	93.12	gold quality
ascending aorta	UBERON:0001496	93.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.08	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.94
E-CURD-135	no	640.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting UFSP2, 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-3924	100.00	72.09	2394
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
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-3185	99.99	68.12	1959
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-325	99.58	66.55	358
HSA-MIR-4328	99.57	71.06	4094

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ufsp2	ENSDARG00000056369
mus_musculus	Ufsp2	ENSMUSG00000031634
rattus_norvegicus	Ufsp2	ENSRNOG00000012087
drosophila_melanogaster	Ufsp2	FBGN0036512
caenorhabditis_elegans		WBGENE00018160

Paralogs (1): UFSP1 (ENSG00000176125)

Protein

Protein identifiers

Ufm1-specific protease 2 — Q9NUQ7 (reviewed: Q9NUQ7)

All UniProt accessions (7): Q9NUQ7, D6R9J7, D6RA67, D6RB53, D6RGX2, H0Y9B0, H0YA18

UniProt curated annotations — full annotation on UniProt →

Function. Thiol-dependent isopeptidase that specifically cleaves UFM1, a ubiquitin-like modifier protein, from conjugated proteins, such as CD274/PD-L1, CYB5R3, DDRGK1, MRE11, RPL26/uL24, TRIP4 and RPL26/uL24. While it is also able to mediate the processing of UFM1 precursors, a prerequisite for conjugation reactions, UFSP2 mainly acts as a protein deUFMylase that mediates deconjugation of UFM1 from target proteins. Mediates deUFMylation of RPL26/uL24, a critical step to release the UFM1 ribosome E3 ligase (UREL) complex during the recycling of 60S ribosome subunits from the endoplasmic reticulum. Catalyzes deUFMylation of TRIP4, regulating intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.

Subcellular location. Endoplasmic reticulum. Cytoplasm. Nucleus.

Tissue specificity. Expressed in brain.

Disease relevance. Beukes hip dysplasia (HDB) [MIM:142669] A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974] A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance. The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 106 (DEE106) [MIM:620028] A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non-specific brain abnormalities may be observed on MRI. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the peptidase C78 family.

RefSeq proteins (1): NP_060829* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012462	UFSP1/2_DUB_cat	Domain
IPR049387	UFSP2-like_2nd	Domain

Pfam: PF07910, PF20908

UniProt features (14 total): sequence variant 6, active site 3, sequence conflict 2, chain 1, mutagenesis site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUQ7-F1	91.21	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 302; 426; 428

Post-translational modifications (1): 1

Mutagenesis-validated functional residues (1):

Position	Phenotype
302	catalytically inactive; loss of protease activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 320 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GCM_GSPT1, MODULE_255, GOBP_CELLULAR_RESPONSE_TO_LIPID, XU_GH1_AUTOCRINE_TARGETS_UP, MODULE_418, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_317, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_TRANSLATION, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS

GO Biological Process (7): proteolysis (GO:0006508), regulation of type II interferon production (GO:0032649), ribosome disassembly (GO:0032790), regulation of intracellular estrogen receptor signaling pathway (GO:0033146), rescue of stalled cytosolic ribosome (GO:0072344), obsolete negative regulation of proteolysis involved in protein catabolic process (GO:1903051), blood circulation (GO:0008015)

GO Molecular Function (5): deUFMylase activity (GO:0071567), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
protein metabolic process	1
regulation of cytokine production	1
type II interferon production	1
organelle disassembly	1
estrogen receptor signaling pathway	1
regulation of intracellular steroid hormone receptor signaling pathway	1
cytoplasmic translational elongation	1
ribosome disassembly	1
circulatory system process	1
cysteine-type peptidase activity	1
ubiquitin-like protein peptidase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

720 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UFSP2	UFM1	P61960	987
UFSP2	UBA5	Q9GZZ9	902
UFSP2	DDRGK1	Q96HY6	897
UFSP2	UFL1	O94874	859
UFSP2	UFC1	Q9Y3C8	846
UFSP2	CDK5RAP3	Q96JB5	800
UFSP2	TRIP4	Q15650	634
UFSP2	ODR4	Q5SWX8	529
UFSP2	ZMYM4	Q5VZL5	489
UFSP2	CFAP96	A7E2U8	477
UFSP2	RPL26	P61254	475
UFSP2	CCDC86	Q9H6F5	467
UFSP2	ESR1	P03372	462
UFSP2	CENPBD1P	B2RD01	447
UFSP2	OTUD3	Q5T2D3	436

IntAct

167 interactions, top by confidence:

A	B	Type	Score
EMC2	EMC8	psi-mi:“MI:0914”(association)	0.940
DDRGK1	UFL1	psi-mi:“MI:0914”(association)	0.710
HLA-C	HLA-A	psi-mi:“MI:0914”(association)	0.670
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
LRATD2	NMT2	psi-mi:“MI:0914”(association)	0.640
BTN3A2	BTN3A1	psi-mi:“MI:0914”(association)	0.600
LMO1	UFSP2	psi-mi:“MI:0915”(physical association)	0.560
APOBEC1	UFSP2	psi-mi:“MI:0915”(physical association)	0.560
BTN3A3	BTN3A1	psi-mi:“MI:0914”(association)	0.560
CD79A	METTL15	psi-mi:“MI:0914”(association)	0.530
KIR3DL2	METTL15	psi-mi:“MI:0914”(association)	0.530
PLXDC2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
VASN	AP3B1	psi-mi:“MI:0914”(association)	0.530
TMX1	NRP1	psi-mi:“MI:0914”(association)	0.530
FAM177A1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
SLC16A11	H2AB2	psi-mi:“MI:0914”(association)	0.530
SIGLEC12	HSPA5	psi-mi:“MI:0914”(association)	0.530
AMIGO3	CANX	psi-mi:“MI:0914”(association)	0.530
VAT1L	PIBF1	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
IGSF6	CETN3	psi-mi:“MI:0914”(association)	0.530

BioGRID (158): UFSP2 (Affinity Capture-Western), ASCC1 (Affinity Capture-Western), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A7H0DN74, A0JMQ9, A4H7A3, A4HVP7, A5PF44, A6QP16, A6ZRL7, A7LBL2, A8B6A2, A9CB86, B1H2Q2, B8NHD6, D3ZKV9, O82162, P07617, P09569, P0C5E7, P0C9B8, P30202, P33052, P53867, Q00946, Q04564, Q2M1D1, Q3B8N0, Q3SWY8, Q4DCH3, Q4QG35, Q4R4A2, Q57X81, Q5RCS9, Q5U595, Q5XIB4, Q5ZIF3, Q6FJ28, Q6NUB7, Q75E61, Q7M760, Q7T347, Q7XZU0

Diamond homologs: Q0INW1, Q2M1D1, Q3B8N0, Q4V6M7, Q5RCS9, Q5XIB4, Q5ZIF3, Q61UA0, Q6NVU6, Q7T347, Q94218, Q99K23, Q9CZP0, Q9NUQ7, Q9STL8, Q9VUR0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 204 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
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	5	17.3×	3e-03
trans-Golgi Network Vesicle Budding	6	13.4×	3e-03
Membrane Trafficking	12	3.9×	9e-03
Vesicle-mediated transport	12	3.7×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	29
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1098423	NM_018359.5(UFSP2):c.905G>C (p.Cys302Ser)	Pathogenic
204613	NM_018359.5(UFSP2):c.868T>C (p.Tyr290His)	Pathogenic
437868	NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala)	Pathogenic
4526333	NM_018359.5(UFSP2):c.1277A>G (p.Asp426Gly)	Likely pathogenic
916581	NM_018359.5(UFSP2):c.1283A>G (p.His428Arg)	Likely pathogenic

SpliceAI

2111 predictions. Top by Δscore:

Variant	Effect	Δscore
4:185399557:ATCCT:A	acceptor_gain	1.0000
4:185399568:A:AG	acceptor_gain	1.0000
4:185399568:A:C	acceptor_loss	1.0000
4:185399569:G:GG	acceptor_gain	1.0000
4:185399569:GT:G	acceptor_gain	1.0000
4:185399569:GTT:G	acceptor_gain	1.0000
4:185399569:GTTT:G	acceptor_gain	1.0000
4:185399569:GTTTA:G	acceptor_gain	1.0000
4:185399770:GCTG:G	donor_gain	1.0000
4:185399771:CTGGT:C	donor_loss	1.0000
4:185399772:TGGTA:T	donor_loss	1.0000
4:185399774:G:T	donor_loss	1.0000
4:185399775:T:A	donor_loss	1.0000
4:185405410:T:TC	acceptor_gain	1.0000
4:185405775:CTTA:C	donor_loss	1.0000
4:185405776:TTACC:T	donor_loss	1.0000
4:185405777:T:TG	donor_loss	1.0000
4:185405778:AC:A	donor_loss	1.0000
4:185405779:C:CA	donor_loss	1.0000
4:185405779:CCGAT:C	donor_gain	1.0000
4:185405852:CTTGG:C	acceptor_gain	1.0000
4:185405857:C:CC	acceptor_gain	1.0000
4:185408065:A:AC	acceptor_gain	1.0000
4:185408065:A:C	acceptor_gain	1.0000
4:185408071:T:TC	acceptor_gain	1.0000
4:185408079:A:C	acceptor_gain	1.0000
4:185408431:TAAAT:T	acceptor_gain	1.0000
4:185408435:TC:T	acceptor_loss	1.0000
4:185408436:C:CA	acceptor_loss	1.0000
4:185408437:T:A	acceptor_loss	1.0000

AlphaMissense

3088 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:185408009:A:G	W350R	1.000
4:185408009:A:T	W350R	1.000
4:185400466:A:G	W446R	0.999
4:185400466:A:T	W446R	0.999
4:185403535:G:C	H428D	0.999
4:185403543:A:G	L425P	0.999
4:185403594:A:T	I408K	0.999
4:185403603:G:T	A405D	0.999
4:185408007:C:A	W350C	0.999
4:185408007:C:G	W350C	0.999
4:185408369:A:G	W300R	0.999
4:185408369:A:T	W300R	0.999
4:185400448:A:G	W452R	0.998
4:185400448:A:T	W452R	0.998
4:185400464:C:A	W446C	0.998
4:185400464:C:G	W446C	0.998
4:185403537:G:T	P427Q	0.998
4:185403549:A:G	L423P	0.998
4:185403588:C:T	G410E	0.998
4:185403594:A:C	I408R	0.998
4:185403618:C:T	G400E	0.998
4:185405788:A:T	V397D	0.998
4:185408002:C:T	G352E	0.998
4:185408330:A:G	W313R	0.998
4:185408330:A:T	W313R	0.998
4:185408363:A:G	C302R	0.998
4:185408367:C:A	W300C	0.998
4:185408367:C:G	W300C	0.998
4:185408378:C:G	D297H	0.998
4:185403533:A:C	H428Q	0.997

dbSNP variants (sampled 300 via entrez): RS1000009846 (4:185418288 C>T), RS10000869 (4:185418295 A>G), RS1000093655 (4:185406912 C>A), RS1000106455 (4:185411482 T>G), RS10002982 (4:185422228 T>C), RS1000306915 (4:185401521 T>C,G), RS10003160 (4:185418430 A>C,G,T), RS1000449648 (4:185401283 C>G), RS1000470133 (4:185425115 T>A,C), RS10005827 (4:185401833 C>A,T), RS1000694847 (4:185418095 G>A), RS1000792969 (4:185412989 A>G), RS1000942208 (4:185406249 C>T), RS1000981406 (4:185427138 C>G,T), RS1001046525 (4:185402990 T>C)

Disease associations

OMIM: gene MIM:611482 | disease phenotypes: MIM:617974, MIM:142669, MIM:620028, MIM:308350

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy 106	Strong	Autosomal recessive
spondyloepimetaphyseal dysplasia, di rocco type	Strong	Autosomal dominant
hip dysplasia, Beukes type	Moderate	Autosomal dominant
autosomal recessive non-syndromic intellectual disability	Supportive	Autosomal recessive

Mondo (10): spondyloepimetaphyseal dysplasia, di rocco type (MONDO:0060702), hip dysplasia, Beukes type (MONDO:0007726), developmental and epileptic encephalopathy 106 (MONDO:0031052), dilated cardiomyopathy (MONDO:0005021), hypertrophic cardiomyopathy (MONDO:0005045), intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149), congenital nervous system disorder (MONDO:0002320), developmental and epileptic encephalopathy, 1 (MONDO:0010632), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

Orphanet (4): Hip dysplasia, Beukes type (Orphanet:2114), Rare hypertrophic cardiomyopathy (Orphanet:217569), Dilated cardiomyopathy (Orphanet:217604), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

90 total (30 of 90 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000348	High forehead
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000565	Esotropia
HP:0000577	Exotropia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0000926	Platyspondyly
HP:0001216	Delayed ossification of carpal bones
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy

GWAS associations

0 associations (top):

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C564185	Hip Dysplasia, Beukes Type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
ginger extract	increases expression, increases abundance	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
glycidyl methacrylate	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Benzo(a)pyrene	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Ivermectin	decreases expression	1
Oils, Volatile	increases abundance, increases expression	1
Quercetin	decreases expression	1
Tretinoin	decreases expression	1
Tunicamycin	increases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3KV	Abcam HEK293T UFSP2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy