MYOF

Summary

MYOF (myoferlin, HGNC:3656) is a protein-coding gene on chromosome 10q23.33, encoding Myoferlin (Q9NZM1). Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress.

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.

Source: NCBI Gene 26509 — RefSeq curated summary.

At a glance

• Gene–disease (curated): angioedema, hereditary, 7 (Limited, GenCC)
• GWAS associations: 43 (top 2% of genes corpus-wide)
• Clinical variants (ClinVar): 464 total — 1 pathogenic (top 7% of genes corpus-wide)
• Regional missense constraint (gnomAD): 1 of 3 regions constrained (≈1% of expected missense variation)
• GTEx eGene: eQTL in 40 tissues, sQTL in 31 (q < 0.05)
• Phenotypes (HPO): 6
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.94 (unconstrained)
• MANE Select transcript: NM_013451
• Notable: 464 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3656
Approved symbol	MYOF
Name	myoferlin
Location	10q23.33
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1207
Ensembl gene	ENSG00000138119
Ensembl biotype	protein_coding
OMIM	604603
Entrez	26509

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 1 retained_intron

MANE Select: ENST00000359263

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 1, TSL 5: 4

ENST00000359263, ENST00000358334, ENST00000371488, ENST00000371489, ENST00000463743, ENST00000474161, ENST00000475358, ENST00000485212, ENST00000488645, ENST00000941955, ENST00000941956, ENST00000941957, ENST00001004603, ENST00001009881, ENST00001112570, ENST00001112571

RefSeq mRNA: 2 — MANE Select: NM_013451 NM_013451, NM_133337

CCDS: CCDS41550, CCDS41551

Canonical transcript exons

ENST00000359263 — 54 exons

Exon	Start	End
ENSE00000932929	93323270	93323358
ENSE00001591952	93377323	93377429
ENSE00001597532	93399392	93399495
ENSE00001602452	93397247	93397290
ENSE00001607775	93372930	93373085
ENSE00001635278	93359833	93359978
ENSE00001644285	93369645	93369776
ENSE00001650844	93355628	93355736
ENSE00001651333	93401418	93401544
ENSE00001657218	93374763	93374955
ENSE00001658202	93349808	93349969
ENSE00001669811	93402860	93402890
ENSE00001685634	93351197	93351295
ENSE00001687908	93363961	93364075
ENSE00001690317	93343856	93343932
ENSE00001696852	93404157	93404219
ENSE00001699506	93404023	93404073
ENSE00001718884	93351665	93351846
ENSE00001721472	93396142	93396224
ENSE00001738173	93397388	93397456
ENSE00001741484	93337815	93337913
ENSE00001743861	93366392	93366555
ENSE00001753360	93335921	93336046
ENSE00001760561	93408787	93408915
ENSE00001764014	93361452	93361557
ENSE00001770834	93356675	93356848
ENSE00001775552	93402232	93402347
ENSE00001776338	93353811	93353888
ENSE00001778381	93392917	93392955
ENSE00001780017	93409573	93409739
ENSE00001791610	93387797	93387913
ENSE00001792572	93379863	93379987
ENSE00001796656	93389030	93389154
ENSE00001801029	93351413	93351571
ENSE00001801168	93347617	93347782
ENSE00002512650	93381219	93381396
ENSE00002516596	93340153	93340164
ENSE00003264674	93333221	93333312
ENSE00003269682	93333758	93333913
ENSE00003289603	93329664	93329834
ENSE00003474142	93316714	93316813
ENSE00003478117	93313020	93313210
ENSE00003478648	93325826	93325965
ENSE00003494463	93431408	93431516
ENSE00003504934	93426071	93426158
ENSE00003510105	93452050	93452141
ENSE00003513158	93456882	93456937
ENSE00003559504	93323078	93323173
ENSE00003605171	93328763	93328911
ENSE00003640266	93310534	93310643
ENSE00003652893	93319872	93320013
ENSE00003663477	93310020	93310167
ENSE00003847643	93306429	93307001
ENSE00003848007	93482107	93482334

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.2018 / max 523.6100, expressed in 1562 samples.

Highest expression (Bgee): skin of hip, gingival epithelium, nasal cavity epithelium, gingiva, upper leg skin.

Genetic regulation across tissues (GTEx eQTL / sQTL)

MYOF is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 40 tissues and its splicing (sQTL) in 31 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 71 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	sqtl	2.8e-270	+2.31	10:93323282:C:T
Adipose Subcutaneous	sqtl	2.2e-239	+2.27	10:93323282:C:T
Skin Not Sun Exposed Suprapubic	sqtl	5.1e-239	+2.28	10:93323282:C:T
Thyroid	sqtl	2.1e-211	+2.11	10:93323282:C:T
Artery Tibial	sqtl	5.1e-211	+2.22	10:93323282:C:T
Nerve Tibial	sqtl	3.1e-183	+2.09	10:93323282:C:T
Lung	sqtl	3.2e-179	+2.10	10:93323282:C:T
Esophagus Mucosa	sqtl	4.2e-166	+2.19	10:93323282:C:T
Esophagus Muscularis	sqtl	1.4e-137	+2.27	10:93323282:C:T
Adipose Visceral Omentum	sqtl	9.9e-131	+1.98	10:93323282:C:T
Breast Mammary Tissue	sqtl	1.8e-116	+1.94	10:93323282:C:T
Artery Aorta	sqtl	2.4e-109	+2.30	10:93323282:C:T
Colon Transverse	sqtl	5.7e-108	+2.10	10:93323282:C:T
Colon Sigmoid	sqtl	1.3e-106	+2.10	10:93323282:C:T
Esophagus Gastroesophageal Junction	sqtl	1.9e-103	+2.41	10:93323282:C:T
Prostate	sqtl	1.0e-65	+2.48	10:93323282:C:T
Cells Cultured fibroblasts	sqtl	4.5e-63	-0.85	10:93342262:A:G
Thyroid	eqtl	4.0e-42	+0.57	10:93436455:A:T
Artery Coronary	sqtl	6.0e-36	+2.59	10:93323282:C:T
Muscle Skeletal	eqtl	1.1e-34	+0.36	10:93436455:A:T

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
110692	16.3617	1503
110693	11.2008	1369
110691	1.9217	988
110694	1.3256	705
110676	0.3666	183
110678	0.3068	119
110679	0.2729	111
110680	0.2402	120
110677	0.2055	81

Top tissues by expression

showing 100 of 294 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skin of hip	UBERON:0001554	98.74	gold quality
gingival epithelium	UBERON:0001949	98.33	gold quality
nasal cavity epithelium	UBERON:0005384	98.27	gold quality
gingiva	UBERON:0001828	98.24	gold quality
upper leg skin	UBERON:0004262	98.24	gold quality
stromal cell of endometrium	CL:0002255	98.22	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.14	gold quality
epithelium of nasopharynx	UBERON:0001951	98.01	gold quality
urethra	UBERON:0000057	97.99	gold quality
palpebral conjunctiva	UBERON:0001812	97.95	gold quality
decidua	UBERON:0002450	97.94	gold quality
mammalian vulva	UBERON:0000997	97.93	gold quality
mammary duct	UBERON:0001765	97.70	gold quality
visceral pleura	UBERON:0002401	97.62	gold quality
upper arm skin	UBERON:0004263	97.61	gold quality
epithelium of mammary gland	UBERON:0003244	97.47	gold quality
placenta	UBERON:0001987	97.45	gold quality
urinary bladder	UBERON:0001255	97.28	gold quality
colonic epithelium	UBERON:0000397	97.25	gold quality
nasal cavity mucosa	UBERON:0001826	97.20	gold quality
pleura	UBERON:0000977	97.16	gold quality
cervix squamous epithelium	UBERON:0006922	97.15	gold quality
right uterine tube	UBERON:0001302	97.12	gold quality
mucosa of urinary bladder	UBERON:0001259	97.09	gold quality
tongue squamous epithelium	UBERON:0006919	97.09	gold quality
pericardium	UBERON:0002407	97.08	gold quality
squamous epithelium	UBERON:0006914	97.07	gold quality
parietal pleura	UBERON:0002400	97.06	gold quality
penis	UBERON:0000989	97.05	gold quality
cauda epididymis	UBERON:0004360	97.05	gold quality
saphenous vein	UBERON:0007318	97.02	gold quality
thoracic mammary gland	UBERON:0005200	96.99	gold quality
mammary gland	UBERON:0001911	96.98	gold quality
germinal epithelium of ovary	UBERON:0001304	96.90	gold quality
synovial joint	UBERON:0002217	96.83	gold quality
cervix epithelium	UBERON:0004801	96.79	gold quality
seminal vesicle	UBERON:0000998	96.74	gold quality
bronchial epithelial cell	CL:0002328	96.54	gold quality
esophagus squamous epithelium	UBERON:0006920	96.53	gold quality
endometrium epithelium	UBERON:0004811	96.50	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.48	gold quality
oral cavity	UBERON:0000167	96.40	gold quality
epithelium of bronchus	UBERON:0002031	96.34	gold quality
bronchus	UBERON:0002185	96.34	gold quality
blood vessel layer	UBERON:0004797	96.34	gold quality
epithelium of esophagus	UBERON:0001976	96.29	gold quality
uterine cervix	UBERON:0000002	96.26	gold quality
lower lobe of lung	UBERON:0008949	96.19	gold quality
endometrium	UBERON:0001295	96.03	gold quality
pharyngeal mucosa	UBERON:0000355	95.94	gold quality
hair follicle	UBERON:0002073	95.88	gold quality
right coronary artery	UBERON:0001625	95.80	gold quality
colonic mucosa	UBERON:0000317	95.77	gold quality
layer of synovial tissue	UBERON:0007616	95.74	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.62	gold quality
zone of skin	UBERON:0000014	95.61	gold quality
periodontal ligament	UBERON:0008266	95.61	gold quality
endocervix	UBERON:0000458	95.58	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.48	gold quality
skin of abdomen	UBERON:0001416	95.43	gold quality
uterus	UBERON:0000995	95.40	gold quality
ectocervix	UBERON:0012249	95.38	gold quality
vagina	UBERON:0000996	95.27	gold quality
skin of leg	UBERON:0001511	95.27	gold quality
superficial temporal artery	UBERON:0001614	95.23	gold quality
oviduct epithelium	UBERON:0004804	95.16	gold quality
fallopian tube	UBERON:0003889	95.05	gold quality
ascending aorta	UBERON:0001496	95.04	gold quality
tibial artery	UBERON:0007610	95.04	gold quality
popliteal artery	UBERON:0002250	95.03	gold quality
aorta	UBERON:0000947	95.02	gold quality
myometrium	UBERON:0001296	95.02	gold quality
thoracic aorta	UBERON:0001515	95.01	gold quality
smooth muscle tissue	UBERON:0001135	94.98	gold quality
trachea	UBERON:0003126	94.96	gold quality
calcaneal tendon	UBERON:0003701	94.91	gold quality
esophagus mucosa	UBERON:0002469	94.79	gold quality
amniotic fluid	UBERON:0000173	94.39	gold quality
descending thoracic aorta	UBERON:0002345	94.36	gold quality
esophagus	UBERON:0001043	94.34	gold quality
vena cava	UBERON:0004087	94.11	gold quality
adipose tissue	UBERON:0001013	94.08	gold quality
left coronary artery	UBERON:0001626	94.03	gold quality
tibia	UBERON:0000979	93.98	gold quality
coronary artery	UBERON:0001621	93.95	gold quality
connective tissue	UBERON:0002384	93.88	gold quality
lower esophagus	UBERON:0013473	93.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.77	gold quality
lung	UBERON:0002048	93.74	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.66	gold quality
body of uterus	UBERON:0009853	93.65	gold quality
sigmoid colon	UBERON:0001159	93.54	gold quality
rectum	UBERON:0001052	93.22	gold quality
mouth mucosa	UBERON:0003729	93.21	gold quality
gall bladder	UBERON:0002110	93.16	gold quality
upper lobe of lung	UBERON:0008948	93.14	gold quality
left uterine tube	UBERON:0001303	93.00	gold quality
tendon	UBERON:0000043	92.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.89	gold quality
caput epididymis	UBERON:0004358	92.87	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	85.26
E-MTAB-6819	yes	70.67
E-MTAB-6678	yes	8.35
E-ENAD-27	yes	7.16
E-GEOD-81383	no	1035.87
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	78.3
Urinary bladder	tissue	58.0	high
Cervix	tissue	53.0	high
Skin 1	tissue	52.9	medium
Placenta	tissue	51.9	high
Smooth muscle	tissue	41.3	low
Breast	tissue	40.5	medium
Fallopian tube	tissue	34.7	medium
Esophagus	tissue	34.1	medium
Thyroid gland	tissue	33.5	medium
Lung	tissue	30.3	high
Seminal vesicle	tissue	29.6	medium
Rectum	tissue	27.6	medium
Adipose tissue	tissue	25.9	not detected
Prostate	tissue	25.8	medium
Endometrium 1	tissue	25.7	high
Vagina	tissue	25.6	medium
Gallbladder	tissue	24.9	high
Parathyroid gland	tissue	22.4	high
Colon	tissue	21.0	medium
Appendix	tissue	19.4	medium
Heart muscle	tissue	12.9	low
Stomach 1	tissue	12.7	medium
Ovary	tissue	12.4	medium
Salivary gland	tissue	10.7	medium
Kidney	tissue	10.1	medium
Spinal cord	tissue	9.9
Superior colliculi	tissue	9.7
Substantia nigra	tissue	9.3
Tonsil	tissue	8.5	medium
Locus coeruleus	tissue	8.3
Hippocampus	tissue	7.1	low
Small intestine	tissue	6.8	medium
Epididymis	tissue	6.7	medium
Thalamus	tissue	6.5
Adrenal gland	tissue	6.4	medium
Medulla oblongata	tissue	6.2
Spleen	tissue	6.1	low
Tongue	tissue	5.8
Nucleus accumbens	tissue	5.8
Pons	tissue	5.6
Pancreas	tissue	5.5	medium
Midbrain	tissue	5.4
Hippocampal formation	tissue	5.2
Entorhinal cortex	tissue	5.2
Cerebral cortex	tissue	5.1	low
Somatosensory cortex	tissue	5.1
Motor cortex	tissue	5.0
Duodenum	tissue	5.0	medium
Insular cortex	tissue	4.9
Thymus	tissue	4.8
Olfactory bulb	tissue	4.8
Temporal cortex	tissue	4.7
Prefrontal cortex	tissue	4.6
Retrosplenial and cingulate cortex	tissue	4.5
Putamen	tissue	4.3
Retrosplenial cortex	tissue	4.3
Occipital cortex	tissue	4.2
Lymph node	tissue	4.1	medium
Septum	tissue	4.0

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Blood vessel (30.7), Nucleus raphe pallidus (21.0), Kolliker-Fuse nucleus (18.8), Medial olivary nucleus (18.8), Area postrema (18.5).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFATC2

miRNA regulators (miRDB)

Targeting MYOF by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 44 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258

Functional genomics

gnomAD constraint: pLI 4.55e-61, LOEUF 0.945, missense Z 1.08 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000359263 splits into 3 regions with different missense tolerance; 1 is missense-constrained (≈1% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
10:93,306,966–93,452,071	2436 / 2480.7	0.98	no
10:93,452,072–93,452,117	3 / 17.5	0.17	yes (p 5.3e-04)
10:93,452,118–93,482,194	57 / 62.4	0.91	no

Literature-anchored findings (GeneRIF, showing 36)

• myoferlin forms a complex with dynamin-2 and VEGFR-2, which prevents CBL-dependent VEGFR-2 polyubiquitination and proteasomal degradation. (PMID:17702744)
• solution structure of the inner DysF domain of the dysferlin paralogue myoferlin, which has a unique fold held together by stacking of arginine and tryptophans, mutations that lead to clinical disease in dysferlin (PMID:18495154)
• interaction of myoferlin with EHD2 identifies molecular overlap between the endocytic recycling pathway and the machinery that regulates myoblast membrane fusion (PMID:18502764)
• In trophoblastic cells, there was a positive correlation between cell fusion and increased dysferlin expression but not myoferlin expression. (PMID:19228595)
• These data describe a new role for myoferlin in receptor-dependent endocytosis and an overlapping role for myoferlin-dynamin 2-caveolin 1 protein complexes in membrane fusion and fission events. (PMID:19494235)
• MYOF plays a previously unrecognized role in cancer cell invasion. (PMID:22135466)
• suggest a novel role of MYOF in breast tumor cell invasion and a potential reversion to an epithelial phenotype upon loss of MYOF (PMID:22761893)
• The effect of myoferlin on the expression of ZO-1 in airway epithelial cells indicates its role in membrane fusion events that regulate cell detachment and apoptosis within the airway epithelium. (PMID:22808170)
• These data provide the first evidence of myoferlin expression in solid human and mouse tumors. (PMID:23499551)
• Data indicate that dysferlin, otoferlin, and myoferlin do not merely passively adsorb to membranes but actively sculpt lipid bilayers. (PMID:23859474)
• High myoferlin expression is associated with breast cancer. (PMID:23864327)
• MYOF regulates cell adhesions and cell-substrate adhesion strength and may account for the high degree of motility in invasive breast cancer cells. (PMID:25631868)
• Myoferlin plays a key role in VEGFA secretion and impacts tumor-associated angiogenesis in human pancreas cancer. (PMID:26311411)
• Results demonstrate for the first time that nuclear myoferlin expression independently predicts poor clinical outcome in OPSCC patients. (PMID:26919244)
• A novel regulator, myoferlin, of ADAM12 is discovered in HeLa cells and this protein increases ADAM12 expression level, stability, and its enzymatic activity, leading to the reduction of its substrate, E-cadherin, which plays important roles in the regulation of cell adhesion and tumor metastasis. (PMID:27432471)
• Myoferlin is a general component of cancer cell derived exosomes from different breast and pancreatic cancer cell lines. (PMID:27845903)
• the cleavage of myoferlin, yielding a membrane-associated dual C2 domain ‘mini-myoferlin’, is reported. (PMID:28192161)
• This study is the first to report robust age associations for DNA methylation in MYOF and DDO, both of which have plausible functional roles in aging (PMID:28255110)
• Data show myoferlin depletion did not affect STAT3 transcription factor (STAT3) phosphorylation, but completely blocked STAT3 translocation to nucleus. (PMID:28745314)
• Data show that myoferlin (MYOF) plays an important role in VM and knockdown of MYOF suppresses vasculogenic mimicry (VM) formation via decreasing matrix metallopeptidase 2 (MMP-2) and inducing mesenchymal-to-epithelial transition (MET) in A375 melanoma cells. (PMID:29164766)
• The observed mitochondrial fission induced by myoferlin depletion led to a decrease of cell proliferation. (PMID:29720728)
• Results show that the FerA domain is a novel four-helix bundle fold with its own Ca(2+)-dependent phospholipid-binding activity which interaction with the membrane is enhanced by the presence of Ca(2+). (PMID:30026467)
• The initial C2 domains of dysferlin and myoferlin are 57% similar (42% identical). Unlike dysferlin C2A, myoferlin binds two Ca2+ with equivalent affinity. Unlike dysferlin C2A, the membrane binding loop 1 of myoferlin C2A is relatively rigid. (PMID:31004665)
• Myoferlin hyperexpression can be a useful marker for predicting the development of subsequent primary malignancies in patients with ccRCC. (PMID:31280198)
• Prognostic significance of immunohistochemical staining for myoferlin in clear cell renal cell carcinoma and its association with epidermal growth factor receptor expression. (PMID:31421995)
• The otoferlin enhances cancer cell proliferation, migration and metabolism by affecting various aspects of membrane biology. (PMID:31443490)
• Myoferlin silencing inhibits VEGFR2-mediated proliferation of metastatic clear cell renal cell carcinoma. (PMID:31477752)
• PINCH-1 interacts with myoferlin to promote breast cancer progression and metastasis. (PMID:31801973)
• This article reviews the physiological function of myoferlin (MYOF) as well as its role in cancer. (PMID:31828126)
• Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth. (PMID:33686253)
• Comprehensive Analysis of Myoferlin in Human Pancreatic Cancer via Bioinformatics. (PMID:34957301)
• Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis. (PMID:35984564)
• HBZ upregulates myoferlin expression to facilitate HTLV-1 infection. (PMID:36827461)
• Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. (PMID:37434585)
• A missense variant in MYOF is associated with ARVC and sudden cardiac death. (PMID:38253296)
• Identification of myoferlin as a mitochondria-associated membranes component required for calcium signaling in PDAC cell lines. (PMID:38368370)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	myof	ENSDARG00000006112
danio_rerio	myofl	ENSDARG00000017128
mus_musculus	Myof	ENSMUSG00000048612
rattus_norvegicus	Myof	ENSRNOG00000016117
drosophila_melanogaster	mfr	FBGN0266757

Paralogs (4): OTOF (ENSG00000115155), DYSF (ENSG00000135636), FER1L6 (ENSG00000214814), FER1L5 (ENSG00000249715)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1919192) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 10 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased circulating calcium level	1
abnormal myogenesis	1
decreased body size	1
increased circulating phosphate level	1
decreased vascular permeability	1
abnormal soleus morphology	1
increased circulating creatinine level	1
increased circulating total protein level	1
decreased skeletal muscle fiber density	1
skeletal muscle fiber degeneration	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Oryza sativa Indica Group	A2X479	100.0%	Diamond
Oryza sativa Japonica Group	Q6YWF1	100.0%	Diamond
Equus caballus	O77793	95.6%	Diamond
Bos taurus	A6QQP7	91.5%	Diamond
Arabidopsis thaliana	Q9LP65	85.0%	Diamond
Xenopus tropicalis	B3DLH6	75.6%	Diamond
Schizosaccharomyces pombe 972h-	O14065	41.4%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
FFAR4	protein-coding	338557
CEP55	protein-coding	55165
RBP4	protein-coding	5950
CYP26A1	protein-coding	1592

Protein

Protein identifiers

Myoferlin — Q9NZM1 (reviewed: Q9NZM1)

Alternative names: Fer-1-like protein 3

All UniProt accessions (2): Q9NZM1, H0YD14

UniProt curated annotations — full annotation on UniProt →

Function. Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR.

Subunit / interactions. Interacts with DNM2 and KDR. Interacts with EHD1. Interacts with EHD2; the interaction is direct. Interacts with RIPOR2.

Subcellular location. Cell membrane. Nucleus membrane. Cytoplasmic vesicle membrane. Late endosome membrane.

Tissue specificity. Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain.

Disease relevance. Angioedema, hereditary, 7 (HAE7) [MIM:619366] A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. The disease may be caused by variants affecting the gene represented in this entry.

Cofactor. Binds Ca(2+). The ions are bound to the C2 1 domain.

Domain organisation. The C2 domain 1 associates with lipid membranes in a calcium-dependent manner.

Similarity. Belongs to the ferlin family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9NZM1-1	1	yes
Q9NZM1-2	2
Q9NZM1-3	3
Q9NZM1-4	4
Q9NZM1-5	5
Q9NZM1-6	6
Q9NZM1-7	7
Q9NZM1-8	8

RefSeq proteins (2): NP_038479, NP_579899 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR006614	Peroxin/Ferlin	Domain
IPR012560	Ferlin_A-domain	Domain
IPR012561	Ferlin_B-domain	Domain
IPR012968	FerIin_dom	Domain
IPR032362	Ferlin_C	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR037720	C2B_Ferlin	Domain
IPR037721	Ferlin	Family
IPR037722	C2C_Ferlin	Domain
IPR037723	C2D_Ferlin	Domain
IPR037724	C2E_Ferlin	Domain
IPR037725	C2F_Ferlin	Domain
IPR037726	C2A_Ferlin	Domain
IPR055072	Ferlin_DSRM	Domain

Pfam: PF00168, PF08150, PF08151, PF08165, PF16165, PF22901

UniProt features (271 total): strand 122, helix 62, binding site 19, turn 18, sequence conflict 11, splice variant 10, domain 7, modified residue 6, sequence variant 6, region of interest 4, topological domain 2, chain 1, compositionally biased region 1, transmembrane region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

8 structures by resolution:

PDB	Title	Method	Resolution (Å)
6EEL	Crystal Structure of Myoferlin C2A with divalent cation	X-RAY DIFFRACTION	1.93
9H6X	Cryo-EM structure of lipid-bound human myoferlin (25 mol% DOPS/5 mol% PI(4,5)P2 nanodisc)	ELECTRON MICROSCOPY	2.56
9QLF	Human myoferlin (1-1997) in complex with an MSP2N2 lipid nanodisc (25 mol% DOPS, 5 mol% …	ELECTRON MICROSCOPY	2.65
9QKV	Human myoferlin (1-1997) in complex with an MSP2N2 lipid nanodisc (15 mol% DOPS, 5 mol% …	ELECTRON MICROSCOPY	2.74
9QLE	Human myoferlin (1-1997) in complex with an MSP2N2 lipid nanodisc (15 mol% DOPS, 2 mol% …	ELECTRON MICROSCOPY	2.8
9QLN	Human myoferlin (1-1997) in the lipid-free, Ca2+-bound state	ELECTRON MICROSCOPY	3.2
2DMH	Solution structure of the first C2 domain of human myoferlin	SOLUTION NMR
2K2O	Solution Structure of the inner DysF domain of human myoferlin	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZM1-F1	80.04	0.33

Human Protein Atlas

Protein class: Transporters, Transporter channels and pores, Predicted membrane proteins, Predicted intracellular proteins, Plasma proteins, Disease related genes, Potential drug targets, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): centriolar satellite; plasma membrane; vesicles; basal body; primary cilium; primary cilium tip

Antibody reliability (HPA): IH enhanced · IF supported

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 (19)

Position	Role
390	Ca(2+)
396	Ca(2+)
444	Ca(2+)
446	Ca(2+)
452	Ca(2+)
1155	Ca(2+)
1161	Ca(2+)
1217	Ca(2+)
1219	Ca(2+)
1569	Ca(2+)
1575	Ca(2+)
1624	Ca(2+)
1626	Ca(2+)
1891	Ca(2+)
1894	Ca(2+)
1897	Ca(2+)

Post-translational modifications (6)

Type	Positions
Phosphoserine	174, 729, 1915
N6-acetyllysine	553, 884, 1507

Mutagenesis-validated functional residues (1)

Position	Phenotype
238–240	reduces interaction with ehd2.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 321 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_CIRCULATORY_SYSTEM_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_NEUROTRANSMITTER_TRANSPORT, TOMLINS_PROSTATE_CANCER_DN, HEIDENBLAD_AMPLICON_8Q24_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, RODRIGUES_NTN1_TARGETS_DN, GOBP_CELL_CELL_SIGNALING, GOBP_WOUND_HEALING, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1

GO Biological Process (4): plasma membrane repair (GO:0001778), muscle contraction (GO:0006936), blood circulation (GO:0008015), regulation of neurotransmitter secretion (GO:0046928)

GO Molecular Function (4): calcium ion binding (GO:0005509), phospholipid binding (GO:0005543), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (11): nuclear envelope (GO:0005635), plasma membrane (GO:0005886), caveola (GO:0005901), synaptic vesicle membrane (GO:0030672), cytoplasmic vesicle (GO:0031410), late endosome membrane (GO:0031902), nuclear membrane (GO:0031965), centriolar satellite (GO:0034451), extracellular exosome (GO:0070062), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659)

GO top-level categories

31 GO namespaces:

Category	Terms
nucleus	2
cellular anatomical structure	2
plasma membrane organization	1
wound healing	1
muscle system process	1
circulatory system process	1
neurotransmitter secretion	1
modulation of chemical synaptic transmission	1
regulation of neurotransmitter transport	1
regulation of secretion by cell	1
metal ion binding	1
lipid binding	1
binding	1
cation binding	1
endomembrane system	1
organelle envelope	1
membrane	1
cell periphery	1
plasma membrane raft	1
synaptic vesicle	1
exocytic vesicle membrane	1
cytoplasm	1
intracellular vesicle	1
late endosome	1
endosome membrane	1
nuclear envelope	1
organelle membrane	1
centrosome	1
extracellular vesicle	1
vesicle membrane	1
cytoplasmic vesicle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

5 experimentally-supported GO terms:

GO term	NS	Evidence
cytoplasmic vesicle	CC	direct assay
extracellular exosome	CC	high-throughput assay
late endosome membrane	CC	direct assay
plasma membrane	CC	direct assay
phospholipid binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,046 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYOF	CAPN3	P20807	712
MYOF	AHNAK	Q09666	684
MYOF	HS3ST6	Q96QI5	636
MYOF	SERPING1	P05155	495
MYOF	DMD	P11532	486
MYOF	EHD2	Q9NZN4	481
MYOF	AHNAK2	Q8IVF2	465
MYOF	EHD3	Q9NZN3	452
MYOF	C1R	P00736	412
MYOF	CAV1	Q03135	407
MYOF	EHD1	Q9H4M9	407
MYOF	KNG1	P01042	403
MYOF	ANGPT1	Q15389	401
MYOF	EMG1	Q92979	398
MYOF	SRGN	P10124	385

IntAct

Human interaction partners of MYOF in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
YWHAZ	physical association	0.400	1

BioGRID (171 interactions; top human partners by supporting records): ANLN (Affinity Capture-MS; 2 records), CDC42 (Affinity Capture-MS; 2 records), HSPA8 (Affinity Capture-MS; 2 records), ISG15 (Affinity Capture-MS; 2 records), ITPR3 (Affinity Capture-Western; 2 records), KIAA1429 (Affinity Capture-RNA; 2 records), RAC1 (Affinity Capture-MS; 2 records), RHOA (Affinity Capture-MS; 2 records), SEC24C (Co-localization; 2 records), STAT3 (Affinity Capture-Western; 2 records), VDAC1 (Co-fractionation; 2 records), ACE2 (Affinity Capture-MS), AGR2 (Proximity Label-MS), APOB (Cross-Linking-MS (XL-MS)), ASB11 (Proximity Label-MS)

SIGNOR signaling

showing 3 of 4 signaling interactions:

A	Effect	B	Mechanism
NFATC2	up-regulates	MYOF	“transcriptional regulation”
NFATC2	“up-regulates quantity by expression”	MYOF	“transcriptional regulation”
MYOF	up-regulates	Myoblast_fusion

Disease & clinical

Genetic variants

Variant evidence for MYOF: 464 ClinVar records (1 pathogenic / likely pathogenic); 43 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	318
Likely benign	56
Benign	15

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1162305	NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore MYOF’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 4,282):

Position(s)	Effect	Δscore	Sites
10:93310018–93310019	donor_loss	1.0000	4
10:93310145	acceptor_gain	1.0000
10:93310168–93310169	acceptor_loss	1.0000	5
10:93310533	donor_loss	1.0000
10:93310648	acceptor_gain	1.0000
10:93310656	acceptor_gain	1.0000
10:93313065	donor_gain	1.0000
10:93316814–93316815	acceptor_loss	1.0000	4
10:93323076–93323077	donor_loss	1.0000	6
10:93323174–93323175	acceptor_loss	1.0000	5

AlphaMissense

5,475 missense substitutions predicted likely pathogenic (of 13,602 scored), across 1,316 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M373	9	0.966	0.996
M1812	9	0.956	0.990
M1080	9	0.892	0.996
D444	8	0.994	0.998
D446	8	0.994	0.998
D1889	8	0.993	0.998
D374	8	0.992	0.998
D1814	8	0.992	0.998
D1069	8	0.990	0.996
D1624	8	0.989	0.997
D396	8	0.987	0.996
D1891	8	0.987	0.997
D719	8	0.984	0.995
D1217	8	0.984	0.994
D1569	8	0.983	0.995
D1379	8	0.982	0.994
H1834	8	0.982	0.995
N866	8	0.981	0.998
D607	8	0.979	0.995
D1219	8	0.978	0.994

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	4.25e-05
Pancreatic Adenocarcinoma (TCGA)	unfavorable	0.000495

Disease associations

OMIM: gene MIM:604603 | disease phenotypes: MIM:619366

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
angioedema, hereditary, 7	Limited	Unknown	2

Mondo (1): angioedema, hereditary, 7 (MONDO:0025713)

HPO phenotypes

6 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000282	Facial edema
HP:0030254	Nail bed hemorrhage
HP:0031244	Swollen lip
HP:0033250	Nailfold capillary tortuosity
HP:0100665	Angioedema

GWAS associations

showing 30 of 43 associations:

Study	Trait	p-value
GCST005580_111	Intraocular pressure	1e-36
GCST008083_48	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7e-27
GCST005580_53	Intraocular pressure	9e-27
GCST008074_42	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3e-25
GCST010118_156	Type 2 diabetes	6e-19
GCST008087_70	Triglyceride levels in current drinkers	8e-19
GCST008076_64	Triglyceride levels	2e-18
GCST008084_216	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6e-17
GCST008075_137	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1e-16
GCST009724_47	Vertical cup-disc ratio (multi-trait analysis)	9e-16
GCST008083_107	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	4e-13
GCST008074_3	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1e-12
GCST008083_64	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2e-12
GCST008074_119	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	4e-12
GCST008076_38	Triglyceride levels	7e-12
GCST005991_23	Platelet count	1e-11
GCST008087_113	Triglyceride levels in current drinkers	1e-11
GCST006412_62	Intraocular pressure	4e-11
GCST005170_19	Intraocular pressure	5e-11
GCST008079_45	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6e-11
GCST006291_42	Spherical equivalent or myopia (age of diagnosis)	3e-10
GCST005409_1	Open-angle glaucoma and vertical cup-disc ratio	6e-10
GCST90011770_49	Glaucoma (primary open-angle)	1e-9
GCST008070_132	HDL cholesterol levels	2e-9
GCST006395_8	Glaucoma	3e-9
GCST008084_78	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6e-9
GCST006394_6	Intraocular pressure	8e-9
GCST008085_124	HDL cholesterol levels in current drinkers	9e-9
GCST008075_26	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1e-8
GCST008078_102	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1e-8

EFO canonical traits (from GWAS)

10 canonical traits:

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0004309	platelet count
EFO:0004847	age at onset
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0004869	YKL40 measurement
EFO:0004615	apolipoprotein B measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523476 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

2 measured of 3 human assays (3 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5403598	KD	170 nM
CHEMBL5423432	KD	1330 nM

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.03	Kd	94	nM	CHEMBL4582168
6.77	Kd	170	nM	CHEMBL5403598
5.88	Kd	1330	nM	CHEMBL5423432

PubChem BioAssay actives

3 with measured affinity, of 15 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
3-[3-ethyl-5-(5-methoxypyrimidin-2-yl)-1,2,4-triazol-1-yl]-N-(4-phenylbutyl)benzamide	1508802: Reversible binding affinity to recombinant human GST-tagged MYOF C2 domain (3445 to 3912 residues) expressed in Escherichia coli BL21 (DE3) by surface plasmon resonance analysis	kd	0.0940	uM
3-[3-ethyl-5-(4-methoxyphenyl)-1,2,4-triazol-1-yl]-N-[4-(triazol-2-yl)butyl]benzamide	2004491: Binding affinity to MYOF C2D (unknown origin) expressed in Escherichia coli BL21(DE3) by SPR analysis	kd	0.1700	uM
3-[3-(2-methoxyphenyl)-4-oxo-1,3-thiazolidin-2-yl]-N-(4-phenylbutyl)benzamide	2004484: Binding affinity to human MYOF C2D by SPR method	kd	1.3300	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects methylation, decreases expression	7
Benzo(a)pyrene	increases expression	5
Estradiol	affects expression, affects cotreatment, decreases expression, increases expression	4
Tetrachlorodibenzodioxin	increases expression, affects cotreatment, affects expression	4
bisphenol A	affects cotreatment, decreases expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
Aflatoxin B1	increases methylation, affects expression, decreases methylation, increases expression	3
bisphenol F	increases expression, affects cotreatment, decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	affects cotreatment, increases expression, decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression	2
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
daidzein	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression, decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
daidzin	affects cotreatment, increases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
afimoxifene	decreases reaction, increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1

ChEMBL screening assays

14 unique, capped per target: 14 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4304992	Binding	Reversible binding affinity to recombinant human GST-tagged MYOF C2 domain (3445 to 3912 residues) expressed in Escherichia coli BL21 (DE3) by surface plasmon resonance analysis	Modification and Biological Evaluation of a Series of 1,5-Diaryl-1,2,4-triazole Compounds as Novel Agents against Pancreatic Cancer Metastasis through Targeting Myoferlin. — *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_B1Y2	Abcam HeLa MYOF KO	Cancer cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for MYOF across ~30M SureChEMBL compounds — explore on Sugi Predict.