MIPEP

Summary

MIPEP (mitochondrial intermediate peptidase, HGNC:7104) is a protein-coding gene on chromosome 13q12.12, encoding Mitochondrial intermediate peptidase (Q99797). Cleaves proteins, imported into the mitochondrion, to their mature size. It is a selective cancer dependency (DepMap: 34.2% of cell lines).

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia.

Source: NCBI Gene 4285 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 337 total — 6 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 29
• Cancer dependency (DepMap): dependent in 34.2% of screened cell lines
• MANE Select transcript: NM_005932

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7104
Approved symbol	MIPEP
Name	mitochondrial intermediate peptidase
Location	13q12.12
Locus type	gene with protein product
Status	Approved
Aliases	MIP
Ensembl gene	ENSG00000027001
Ensembl biotype	protein_coding
OMIM	602241
Entrez	4285

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000382172, ENST00000433710, ENST00000464194, ENST00000469167, ENST00000494139, ENST00000906723, ENST00000906724, ENST00000906725, ENST00000906726, ENST00000906727, ENST00000906728, ENST00000906729, ENST00000906730, ENST00000969551, ENST00000969552

RefSeq mRNA: 1 — MANE Select: NM_005932 NM_005932

CCDS: CCDS9303

Canonical transcript exons

ENST00000382172 — 19 exons

Exon	Start	End
ENSE00000354829	23841335	23841488
ENSE00000678991	23839649	23839726
ENSE00000678994	23837552	23837756
ENSE00000678997	23836240	23836349
ENSE00000679000	23809850	23809924
ENSE00000679003	23805950	23806069
ENSE00000876436	23874846	23874909
ENSE00000876437	23879268	23879354
ENSE00001491306	23889132	23889400
ENSE00003462439	23886333	23886506
ENSE00003472615	23870013	23870195
ENSE00003474289	23756545	23756618
ENSE00003490988	23730189	23730445
ENSE00003510995	23864141	23864189
ENSE00003528345	23869292	23869448
ENSE00003663214	23858860	23858912
ENSE00003665459	23760096	23760217
ENSE00003666382	23862302	23862362
ENSE00003681978	23881699	23881787

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 96.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6594 / max 64.1693, expressed in 1775 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136421	6.0220	1726
136420	3.5890	1548
136419	0.0484	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right atrium auricular region	UBERON:0006631	96.13	gold quality
apex of heart	UBERON:0002098	95.82	gold quality
cardiac atrium	UBERON:0002081	95.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.00	gold quality
heart left ventricle	UBERON:0002084	92.77	gold quality
cardiac ventricle	UBERON:0002082	92.36	gold quality
right uterine tube	UBERON:0001302	92.12	gold quality
skin of abdomen	UBERON:0001416	91.96	gold quality
skin of leg	UBERON:0001511	91.71	gold quality
heart	UBERON:0000948	91.37	gold quality
bronchial epithelial cell	CL:0002328	91.12	gold quality
epithelium of bronchus	UBERON:0002031	90.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.83	gold quality
zone of skin	UBERON:0000014	90.43	gold quality
mucosa of transverse colon	UBERON:0004991	90.00	gold quality
bronchus	UBERON:0002185	89.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.63	gold quality
secondary oocyte	CL:0000655	89.00	gold quality
oocyte	CL:0000023	87.95	gold quality
metanephros cortex	UBERON:0010533	86.83	gold quality
epithelium of nasopharynx	UBERON:0001951	86.70	gold quality
skin of hip	UBERON:0001554	86.68	gold quality
minor salivary gland	UBERON:0001830	86.52	gold quality
adult mammalian kidney	UBERON:0000082	86.35	gold quality
right adrenal gland cortex	UBERON:0035827	86.26	gold quality
left ventricle myocardium	UBERON:0006566	86.05	gold quality
right adrenal gland	UBERON:0001233	86.01	gold quality
stromal cell of endometrium	CL:0002255	85.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.56	gold quality
myocardium	UBERON:0002349	85.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	129.75
E-ANND-3	yes	6.72

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

6 targeting MIPEP, 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-10523-5P	99.91	69.22	2038
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-3137	97.26	66.78	761
HSA-MIR-6759-3P	96.94	68.31	823

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 34.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. (PMID:27799064)
• found that both BCL11A and HMIP-2 were associated with increased endogenous levels of HbF (PMID:27838552)
• Genotype-phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population. (PMID:31604699)
• Functional coupling of presequence processing and degradation in human mitochondria. (PMID:32491259)
• Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea. (PMID:34706496)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mipepb	ENSDARG00000055339
danio_rerio	mipepa	ENSDARG00000055344
mus_musculus	Mipep	ENSMUSG00000021993
rattus_norvegicus	Mipep	ENSRNOG00000013876
drosophila_melanogaster	CG7791	FBGN0033038
caenorhabditis_elegans		WBGENE00013464

Paralogs (2): NLN (ENSG00000123213), THOP1 (ENSG00000172009)

Protein

Protein identifiers

Mitochondrial intermediate peptidase — Q99797 (reviewed: Q99797)

All UniProt accessions (1): Q99797

UniProt curated annotations — full annotation on UniProt →

Function. Cleaves proteins, imported into the mitochondrion, to their mature size.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion matrix.

Disease relevance. Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activity is divalent cation-dependent. It is stimulated by manganese, magnesium or calcium ions and reversibly inhibited by zinc, cobalt and iron.

Cofactor. Binds 1 zinc ion.

Similarity. Belongs to the peptidase M3 family.

RefSeq proteins (1): NP_005923* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001567	Pept_M3A_M3B_dom	Domain
IPR024077	Neurolysin/TOP_dom2	Homologous_superfamily
IPR024079	MetalloPept_cat_dom_sf	Homologous_superfamily
IPR033851	M3A_MIP	Family
IPR045090	Pept_M3A_M3B	Family

Pfam: PF01432

UniProt features (20 total): sequence variant 9, sequence conflict 4, binding site 3, transit peptide 1, chain 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99797-F1	90.33	0.82

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 (1): 496

Ligand- & substrate-binding residues (3): 495; 499; 502

Post-translational modifications (1): 126

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 297 (showing top): GOMF_METALLOPEPTIDASE_ACTIVITY, SP3_Q3, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CELL_CELL_ADHESION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_WATER_TRANSPORT, GOBP_PROTEIN_MATURATION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, BROWNE_HCMV_INFECTION_14HR_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, ARGGGTTAA_UNKNOWN, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS

GO Biological Process (4): peptide metabolic process (GO:0006518), obsolete protein processing involved in protein targeting to mitochondrion (GO:0006627), protein processing (GO:0016485), proteolysis (GO:0006508)

GO Molecular Function (6): metalloendopeptidase activity (GO:0004222), metal ion binding (GO:0046872), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metabolic process	1
proteolysis	1
protein maturation	1
protein metabolic process	1
endopeptidase activity	1
metallopeptidase activity	1
cation binding	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1800 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MIPEP	HBS1L	Q9Y450	919
MIPEP	HBG1	P02096	906
MIPEP	A0A0J9YYA3	A0A0J9YYA3	853
MIPEP	FXN	Q16595	785
MIPEP	XPNPEP3	Q9NQH7	725
MIPEP	TNFRSF19	Q9NS68	703
MIPEP	PMPCA	Q10713	667
MIPEP	FECH	P22830	656
MIPEP	PMPCB	O75439	646
MIPEP	IMMP2L	Q96T52	625
MIPEP	BCL11A	Q9H165	612
MIPEP	C1QTNF9B	B2RNN3	591
MIPEP	ATP23	Q9Y6H3	539
MIPEP	PAM16	Q9Y3D7	529
MIPEP	UQCRFS1	P47985	528

IntAct

107 interactions, top by confidence:

A	B	Type	Score
RIN1	NRAS	psi-mi:“MI:0914”(association)	0.840
DCTN1	DCTN6	psi-mi:“MI:0914”(association)	0.780
TRMT61B	PPTC7	psi-mi:“MI:0914”(association)	0.710
MGME1	POLG	psi-mi:“MI:0914”(association)	0.640
MIPEP	INA	psi-mi:“MI:0915”(physical association)	0.590
SPINK2	STRN	psi-mi:“MI:0914”(association)	0.530
DEFA6	EXTL3	psi-mi:“MI:0914”(association)	0.530
CDC42SE1	EIF5B	psi-mi:“MI:0914”(association)	0.530
MGME1	WDHD1	psi-mi:“MI:0914”(association)	0.530
FOXRED2	TOMM40	psi-mi:“MI:0914”(association)	0.530
TAF1C	DNAJA2	psi-mi:“MI:0914”(association)	0.530
WDTC1	TCP1	psi-mi:“MI:0914”(association)	0.530
PHF1	EPOP	psi-mi:“MI:0914”(association)	0.530
RPUSD3	HSPD1	psi-mi:“MI:0914”(association)	0.530
HMGCL	DBT	psi-mi:“MI:0914”(association)	0.530
IGLV6-57	HSPA5	psi-mi:“MI:0914”(association)	0.500
TRMT61B	GLS	psi-mi:“MI:0914”(association)	0.480
GAB3	MIPEP	psi-mi:“MI:0915”(physical association)	0.400
MIPEP	HTT	psi-mi:“MI:0915”(physical association)	0.400
ILK	MIPEP	psi-mi:“MI:0915”(physical association)	0.370
MIPEP	MAPK6	psi-mi:“MI:0915”(physical association)	0.370
SIRT4	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (109): MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), MIPEP (Affinity Capture-MS), INA (Affinity Capture-MS)

ESM2 similar proteins: A0A3L7I2I8, A2VDQ5, A4IF87, A5PJM5, A6H611, G1SPE9, O09175, O15228, P24155, P42675, P42676, P47788, P52888, Q01992, Q02038, Q08CZ0, Q1JPJ8, Q2KIX2, Q2TBU5, Q3UHB1, Q5IH13, Q5IH14, Q5R9V6, Q5RF14, Q5XGM5, Q5ZJV4, Q66H63, Q66HX8, Q6GM82, Q6NYL5, Q7Z3V4, Q80SY6, Q86TI2, Q86UY8, Q8BGT5, Q8BMD6, Q8C1A5, Q8C5P5, Q8CCT7, Q8VCT3

Diamond homologs: A1CTP5, A1DMR2, A2QWM4, A3LUT4, A4RF25, A5DI46, A5E4V6, A6H611, A6SHZ5, A6ZZI7, A7E7L8, A7TSL2, A8N2T3, A8QB25, B0CRC2, B0Y7Q2, P0CQ18, P0CQ19, P0CQ20, P0CQ21, P35999, P37932, Q01992, Q0CI79, Q0TXL7, Q10415, Q1E8M9, Q2HFL8, Q2UN31, Q4PBS8, Q4WMU9, Q59RK9, Q5RF14, Q6BJ61, Q6CHD6, Q6CVF7, Q6FW88, Q6VMB4, Q6Y5M5, Q6Y5M6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	10
Uncertain significance	154
Likely benign	76
Benign	46

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
208631	NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)	Pathogenic
2130999	NM_005932.4(MIPEP):c.660_661insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCGCGCCCGGCCTTGAGTAGTACATTTCTT (p.Met221delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	Pathogenic
2973805	NM_005932.4(MIPEP):c.1076dup (p.Tyr360fs)	Pathogenic
3902481	NM_005932.4(MIPEP):c.1954C>T (p.Gln652Ter)	Pathogenic
4772625	NM_005932.4(MIPEP):c.1252C>T (p.Arg418Ter)	Pathogenic
840481	NM_005932.4(MIPEP):c.1970+2T>A	Pathogenic
1210219	NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro)	Likely pathogenic
1806091	NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)	Likely pathogenic
2222896	NM_005932.4(MIPEP):c.1053+1G>A	Likely pathogenic
2504023	NM_005932.4(MIPEP):c.1848+2T>G	Likely pathogenic
3234957	NM_005932.4(MIPEP):c.1854G>A (p.Trp618Ter)	Likely pathogenic
3351825	NM_005932.4(MIPEP):c.1318C>T (p.Arg440Ter)	Likely pathogenic
3779851	NM_005932.4(MIPEP):c.790C>T (p.Arg264Ter)	Likely pathogenic
3900295	NM_005932.4(MIPEP):c.1107-2A>G	Likely pathogenic
584454	NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)	Likely pathogenic
986338	NM_005932.4(MIPEP):c.786+1G>C	Likely pathogenic

SpliceAI

3706 predictions. Top by Δscore:

Variant	Effect	Δscore
13:23730443:TACC:T	acceptor_loss	1.0000
13:23730444:ACC:A	acceptor_loss	1.0000
13:23730446:CTGCA:C	acceptor_loss	1.0000
13:23805942:GGACT:G	donor_loss	1.0000
13:23805943:GACTC:G	donor_loss	1.0000
13:23805944:ACT:A	donor_loss	1.0000
13:23805945:CT:C	donor_loss	1.0000
13:23805946:T:TC	donor_loss	1.0000
13:23805947:CACAG:C	donor_loss	1.0000
13:23805948:A:AC	donor_gain	1.0000
13:23805948:A:T	donor_loss	1.0000
13:23805949:C:CC	donor_gain	1.0000
13:23805949:CAGT:C	donor_gain	1.0000
13:23805993:T:TA	donor_gain	1.0000
13:23806066:AGACC:A	acceptor_loss	1.0000
13:23806071:T:A	acceptor_loss	1.0000
13:23809926:T:C	acceptor_gain	1.0000
13:23809926:T:TC	acceptor_gain	1.0000
13:23809929:A:C	acceptor_gain	1.0000
13:23836226:A:AC	donor_gain	1.0000
13:23836234:TCCTA:T	donor_loss	1.0000
13:23836235:CCTAC:C	donor_loss	1.0000
13:23836236:CTA:C	donor_loss	1.0000
13:23836237:TA:T	donor_loss	1.0000
13:23836238:A:T	donor_loss	1.0000
13:23836348:CC:C	acceptor_gain	1.0000
13:23836349:CC:C	acceptor_gain	1.0000
13:23836350:C:CC	acceptor_gain	1.0000
13:23837577:T:TA	donor_gain	1.0000
13:23837767:C:CT	acceptor_gain	1.0000

AlphaMissense

4697 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:23837617:A:G	L493P	0.999
13:23837608:T:A	E496V	0.998
13:23839695:C:T	G431E	0.998
13:23839696:C:A	G431W	0.998
13:23839722:A:T	V422D	0.998
13:23841336:A:G	L420P	0.998
13:23841358:A:G	W413R	0.998
13:23841358:A:T	W413R	0.998
13:23836262:G:T	A544D	0.997
13:23836343:C:A	R517M	0.997
13:23836349:C:T	G515E	0.997
13:23837552:C:A	G515W	0.997
13:23837596:G:T	A500D	0.997
13:23837603:C:G	G498R	0.997
13:23837603:C:T	G498R	0.997
13:23837607:T:A	E496D	0.997
13:23837607:T:G	E496D	0.997
13:23837612:G:C	H495D	0.997
13:23839687:A:C	Y434D	0.997
13:23760200:G:C	F622L	0.996
13:23760200:G:T	F622L	0.996
13:23760202:A:G	F622L	0.996
13:23837597:C:G	A500P	0.996
13:23837598:A:C	H499Q	0.996
13:23837598:A:T	H499Q	0.996
13:23837602:C:T	G498E	0.996
13:23839658:T:A	K443N	0.996
13:23839658:T:G	K443N	0.996
13:23839684:A:G	C435R	0.996
13:23839695:C:A	G431V	0.996

dbSNP variants (sampled 300 via entrez): RS1000010211 (13:23818979 T>C), RS1000014484 (13:23885970 CTTAGA>C), RS1000020065 (13:23860358 G>A), RS1000035415 (13:23788359 T>C), RS1000040583 (13:23803626 T>C), RS1000042749 (13:23744584 T>C), RS1000095262 (13:23738038 G>T), RS1000121126 (13:23772633 G>T), RS1000151316 (13:23863951 T>C), RS1000153324 (13:23851067 C>T), RS1000160316 (13:23795016 C>T), RS1000166969 (13:23823314 T>G), RS1000218052 (13:23841522 T>C), RS1000229762 (13:23883420 AC>A), RS1000239531 (13:23883660 A>C)

Disease associations

OMIM: gene MIM:602241 | disease phenotypes: MIM:617228, MIM:604169

GenCC curated gene-disease

Disease	Classification	Inheritance
lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Moderate	AR

Mondo (4): lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome (MONDO:0014976), cardiomyopathy (MONDO:0004994), left ventricular noncompaction (MONDO:0018901), microcephaly (MONDO:0001149)

Orphanet (3): Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome (Orphanet:478049), Rare cardiomyopathy (Orphanet:167848), Left ventricular noncompaction (Orphanet:54260)

HPO phenotypes

29 total (29 of 29 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000154	Wide mouth
HP:0000252	Microcephaly
HP:0000347	Micrognathia
HP:0000414	Bulbous nose
HP:0000463	Anteverted nares
HP:0000490	Deeply set eye
HP:0000518	Cataract
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001508	Failure to thrive
HP:0001639	Hypertrophic cardiomyopathy
HP:0002151	Increased circulating lactate concentration
HP:0003128	Lactic acidosis
HP:0003348	Hyperalaninemia
HP:0003557	Increased variability in muscle fiber diameter
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0005280	Depressed nasal bridge
HP:0007971	Lamellar cataract
HP:0011800	Midface retrusion
HP:0011968	Feeding difficulties
HP:0012240	Increased intramyocellular lipid droplets
HP:0030682	Left ventricular noncompaction
HP:0100018	Nuclear cataract
HP:0100019	Cortical cataract

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001088_1	Myopia (pathological)	2.000000e-16
GCST001140_3	Lung cancer	2.000000e-12
GCST001523_42	Visceral adipose tissue adjusted for BMI	8.000000e-06
GCST009255_11	Fourth ventricle volume	3.000000e-06
GCST009936_15	Venous thromboembolism	9.000000e-06
GCST012490_224	Femur bone mineral density x serum urate levels interaction	2.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004207	pathological myopia
EFO:0004340	body mass index
EFO:0004531	urate measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation, affects cotreatment	9
sodium arsenite	increases expression, decreases expression	3
perfluorooctanoic acid	decreases expression, affects cotreatment, increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Cadmium Chloride	decreases expression	2
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
tanshinone	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
corosolic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
NSC 689534	affects binding, decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases methylation, increases abundance	1
Copper	affects binding, decreases expression	1
Cosmetics	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SY41	HAP1 MIPEP (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT00185250	PHASE2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy
NCT00490347	PHASE2	COMPLETED	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial
NCT00694161	PHASE2	COMPLETED	The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy