MYO5B

Summary

MYO5B (myosin VB, HGNC:7603) is a protein-coding gene on chromosome 18q21.1, encoding Unconventional myosin-Vb (Q9ULV0). May be involved in vesicular trafficking via its association with the CART complex.

The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease.

Source: NCBI Gene 4645 — RefSeq curated summary.

At a glance

• Gene–disease (curated): microvillus inclusion disease (Definitive, GenCC) — +3 more curated relationships
• GWAS associations: 29
• Clinical variants (ClinVar): 1,760 total — 72 pathogenic, 32 likely-pathogenic
• Phenotypes (HPO): 35
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001080467

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7603
Approved symbol	MYO5B
Name	myosin VB
Location	18q21.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1119
Ensembl gene	ENSG00000167306
Ensembl biotype	protein_coding
OMIM	606540
Entrez	4645

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000285039, ENST00000324581, ENST00000585859, ENST00000586036, ENST00000587895, ENST00000589568, ENST00000592688, ENST00000697217, ENST00000697218, ENST00000697219, ENST00000697220, ENST00000697221, ENST00000908785

RefSeq mRNA: 1 — MANE Select: NM_001080467 NM_001080467

CCDS: CCDS42436

Canonical transcript exons

ENST00000285039 — 40 exons

Exon	Start	End
ENSE00001591700	49929512	49929598
ENSE00001599223	49937245	49937397
ENSE00001602191	49954313	49954435
ENSE00001603626	49962266	49962406
ENSE00001619677	50036850	50036994
ENSE00001620273	49992288	49992431
ENSE00001621311	49902594	49902833
ENSE00001624062	49853449	49853647
ENSE00001637290	49974350	49974615
ENSE00001642477	49841365	49841454
ENSE00001648723	49894941	49895174
ENSE00001661470	49984718	49984825
ENSE00001668887	49837517	49837802
ENSE00001679048	49912062	49912173
ENSE00001686051	49847146	49847289
ENSE00001712603	49863227	49863327
ENSE00001713648	49856813	49856890
ENSE00001719464	49990439	49990520
ENSE00001731429	49843241	49843392
ENSE00001732195	49953260	49953343
ENSE00001733141	49904672	49904828
ENSE00001734130	49878945	49879090
ENSE00001745736	49849567	49849660
ENSE00001751252	49880371	49880455
ENSE00001761426	50001255	50001411
ENSE00001764586	49877763	49877882
ENSE00001776439	49962949	49963030
ENSE00001795440	49980444	49980553
ENSE00001802381	50040143	50040314
ENSE00001802969	49839144	49839294
ENSE00001803296	49906419	49906630
ENSE00002219727	49822789	49826623
ENSE00002296658	49936252	49936349
ENSE00002302584	50194767	50195147
ENSE00003461354	49864141	49864380
ENSE00003474654	49872167	49872232
ENSE00003531775	49875687	49875827
ENSE00003534683	49835344	49835424
ENSE00003583430	50055268	50055378
ENSE00003675279	49836711	49836885

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 97.95.

FANTOM5 (CAGE): breadth broad, TPM avg 6.0165 / max 243.7830, expressed in 834 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171937	2.3570	536
171934	1.1889	394
171940	1.0030	507
171939	0.6724	430
171933	0.4105	186
171931	0.1820	83
171938	0.1061	50
171932	0.0815	36
171936	0.0117	3
171935	0.0032	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	97.95	gold quality
lower esophagus mucosa	UBERON:0035834	96.03	gold quality
jejunal mucosa	UBERON:0000399	95.58	gold quality
pancreatic ductal cell	CL:0002079	95.43	gold quality
epithelial cell of pancreas	CL:0000083	95.40	gold quality
rectum	UBERON:0001052	94.11	gold quality
cortical plate	UBERON:0005343	93.88	gold quality
mucosa of transverse colon	UBERON:0004991	93.56	gold quality
duodenum	UBERON:0002114	92.77	gold quality
colonic mucosa	UBERON:0000317	92.75	gold quality
islet of Langerhans	UBERON:0000006	92.58	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.14	gold quality
nasal cavity epithelium	UBERON:0005384	91.35	gold quality
palpebral conjunctiva	UBERON:0001812	90.93	gold quality
cartilage tissue	UBERON:0002418	90.56	gold quality
oocyte	CL:0000023	90.39	gold quality
esophagus mucosa	UBERON:0002469	90.26	gold quality
secondary oocyte	CL:0000655	89.42	gold quality
bronchial epithelial cell	CL:0002328	89.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.97	gold quality
kidney epithelium	UBERON:0004819	88.86	gold quality
skin of leg	UBERON:0001511	88.56	gold quality
bronchus	UBERON:0002185	88.06	gold quality
eye	UBERON:0000970	87.93	gold quality
minor salivary gland	UBERON:0001830	87.73	gold quality
skin of abdomen	UBERON:0001416	86.70	gold quality
left lobe of thyroid gland	UBERON:0001120	86.47	gold quality
thyroid gland	UBERON:0002046	86.40	gold quality
pancreas	UBERON:0001264	86.09	gold quality
zone of skin	UBERON:0000014	86.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-7	yes	957.23
E-ANND-3	yes	8.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

189 targeting MYO5B, 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-190A-3P	100.00	80.35	5520
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-1236-3P	99.94	68.04	1695

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Dominant negative approach suggests MYO5B plays a role in plasma membrane recycling (through early endosomes). (PMID:11408590)
• Data suggest that polarization of hepatocytes requires recruitment of rab11a and myosin Vb to intracellular membranes that contain apical ABC transporters and transcytotic markers. (PMID:16214890)
• myosin Vb is required for CFTR recycling in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells (PMID:17462998)
• MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. (PMID:18724368)
• A shared homozygous mutation in MYO5B in seven affected Navajos with the expected heterozygosity in five parents, was identified. (PMID:19006234)
• related Rab protein, Rab10, can interact with myosin Va, myosin Vb, and myosin Vc (PMID:19008234)
• Myosin Vb was present in nucleoli where it co-localises with RNA polymerase I, and newly synthesised ribosomal RNA. Vb was also found to physically associate with RNA polymerase I and actin in co-immunoprecipitation experiments. (PMID:19610025)
• 15 novel nonsense and missense mutations in MYO5B in 11 unrelated microvillus inclusion disease patients;MYO5B mutations are a major cause of disease (PMID:20186687)
• Molecular analysis of the MYO5B gene is helpful in genetic counseling and prenatal diagnosis of recurrent microvillus inclusion disease in subsequent pregnancies. (PMID:21199752)
• Our functional analysis indicates that MYO5B mutations can be correlated with an aberrant subcellular distribution of the myosin Vb protein, and apical recycling endosomes… (PMID:21206382)
• In polarized epithelial cyst cultures, Myo5B was required for apical membrane trafficking and de novo lumen formation, dependent on association with both Rab8a and Rab11a. (PMID:21282656)
• Inactivation of MYO5B by siRNA against MYO5B can promote cell proliferation, invasion and motility.The expression of MYO5B was downregulated in gastric cancer and inactivation of MYO5B may contribute to tumorigenesis. (PMID:22134786)
• Rab11A/myosin Vb/Rab11-FIP2 complex frames two late recycling steps of langerin from the ERC to the plasma membrane (PMID:22420646)
• MYO5B mutations have divergent effects on the apical membrane system in kidney and intestinal epithelial cells. (PMID:22441677)
• MYO5B is epigenetically silenced in gastric cancer cells by DNA methylation and histone modification. Inactivation of MYO5B in gastric cancer cells expressing MYO5B inhibits HGF-stimulated MET degradation with sustained c-MET levels and signaling. (PMID:23456500)
• The data of this study supported that the MYO5B gene might be associated with schizophrenia in the Chinese Han population. (PMID:23561489)
• the cargo-binding domain (CBD) structures of the three human MyoV paralogs (Va, Vb, and Vc), revealing subtle structural changes that drive functional differentiation and a novel redox mechanism controlling the CBD dimerization process (PMID:24097982)
• Loss of MYO5b causes loss of apical microvilli, formation of inclusion bodies an protein trafficking defects in CaCo2 cells. (PMID:24138727)
• several crystal structures of the myosin Va or the myosin Vb globular tail domain that gives insights into how the motor is linked to the recycling membrane compartments via Rab11 or the melanophilin adaptor that binds to Rab27a. (PMID:24248336)
• Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c. (PMID:24339992)
• MYO5B-rs555879 is a risk factor for dyslexia in a German cohort. (PMID:24373531)
• Cholestasis in microvillus inclusion disease results from impairment of the MYO5B/RAB11A apical recycling endosome pathway in hepatocytes, altered targeting of bile export pump to the canalicular membrane, and increased ileal bile acid absorption. (PMID:24375397)
• Part of the machinery for ezrin activation depends on recycling endosomes controlled by myosin Vb and Rab11a. (PMID:24413175)
• Microvilli establishment required interaction between RAB8A and MYO5B, while loss of the interaction between RAB11A and MYO5B induced microvillus inclusions. (PMID:24892806)
• Report changes in polarized signaling resulting from Myo5b loss-of-function mutations in microvillus inclusion disease. (PMID:25258405)
• GLUT5 required an interaction cascade of Rab11, Myo5B, Slp4a, Munc18-2, and Vamp7 with Stx3. (PMID:26553929)
• Three novel genes were identified as recurrently mutated; MYCN, MYO5B and VCL, and mutations in these genes were exclusively found in malignant sympathetic paraganglioma tumors. (PMID:26650627)
• Myosin Vb regulates the Cu(+)-stimulated delivery of ATP7B to the apical domain of polarized hepatic cells. (PMID:26823605)
• findings show for the first time that MYO5B deficiency may lead to cholestasis without microvillus inclusion disease (PMID:27532546)
• MYO5B deficiency may underlie 20% of previously undiagnosed low-gamma-glutamyltransferase cholestasis. MYO5B deficiency appears to impair targeting of bile salt export pump to the canalicular membrane with hampered bile acid excretion, resulting in a spectrum of cholestasis without diarrhea. (PMID:28027573)
• Data suggest that single-headed myosin-5B is intermediate-duty ratio motor with kinetic ATPase cycle, rate-limited by phosphate release; in transition to high-duty ratio motor, second head generates strain/gating in myosin-5B dimer that alter kinetic signature by slowing actin-activated ADP release to become rate-limiting; myosin-5B mutations cause microvillus inclusion disease and impact myosin motor function. (PMID:28882893)
• Data suggest that membrane tethering mediated by endosomal RAB11A is drastically and selectively stimulated by its cognate Rab effectors, class V myosins (MYO5A and MYO5B), in a GTP-dependent manner. (RAB11A = ras-related GTPase Rab-11A; MYO5 = myosin class V) (PMID:28939769)
• this study demonstrates the essential role of Myo5b in maintaining the epidermal barrier integrity (PMID:30660668)
• Authors identified a novel role for MYO5B in the regulation of late endosome size control and identify the inability to control late endosome size as an unexpected novel mechanism underlying defects in cell division orientation and epithelial architecture. (PMID:31682603)
• A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. (PMID:31750554)
• Mutations in Myosin 5B in Children With Early-onset Cholestasis. (PMID:32304554)
• MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression. (PMID:32511227)
• Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis. (PMID:32583448)
• MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation. (PMID:34811877)
• Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. (PMID:34815247)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo5b	ENSDARG00000062003
mus_musculus	Myo5b	ENSMUSG00000025885
rattus_norvegicus	Myo5b	ENSRNOG00000014104

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-Vb — Q9ULV0 (reviewed: Q9ULV0)

All UniProt accessions (4): A0A0A0MR36, A0A8V8TKV2, A0A8V8TM52, Q9ULV0

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. Required for proper localization of bile salt export pump ABCB11 at the apical/canalicular plasma membrane of hepatocytes.

Subunit / interactions. Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with RAB11FIP2, RAB11A, and RAB8A. Found in a complex with CFTR and RAB11A. Interacts with NPC1L1;. Interacts with LIMA1.

Subcellular location. Cytoplasm.

Disease relevance. Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850] A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. The disease is caused by variants affecting the gene represented in this entry. Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868] A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9ULV0-1	1	yes
Q9ULV0-2	2
Q9ULV0-3	3

RefSeq proteins (1): NP_001073936* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002710	Dilute_dom	Domain
IPR004009	SH3_Myosin	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036103	MYSc_Myo5	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR037990	Myo5b_CBD	Domain
IPR058662	Myo5a/b_dom	Domain

Pfam: PF00063, PF00612, PF01843, PF25966

UniProt features (123 total): sequence variant 66, helix 23, domain 9, region of interest 5, mutagenesis site 4, turn 3, splice variant 3, strand 2, modified residue 2, coiled-coil region 2, compositionally biased region 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
4J5M	X-RAY DIFFRACTION	2.07
4LX0	X-RAY DIFFRACTION	2.19
4LWZ	X-RAY DIFFRACTION	2.55
4LNZ	X-RAY DIFFRACTION	3.11

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULV0-F1	75.81	0.18

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 (1): 163–170

Post-translational modifications (2): 1, 1446

Mutagenesis-validated functional residues (4):

Position	Phenotype
1300	abolishes interaction with rab8a and has no effect on rab11a interaction; when associated with c-1307.
1307	abolishes interaction with rab8a and has no effect on rab11a interaction; when associated with l-1300.
1714	abolishes interaction with rab11a; has no effect on rab8a interaction.
1748	abolishes interaction with rab11a; has no effect on rab8a interaction.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-432040	Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-382551	Transport of small molecules
R-HSA-445717	Aquaporin-mediated transport

MSigDB gene sets: 251 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, MARTINEZ_RB1_TARGETS_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_RENAL_WATER_HOMEOSTASIS, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOMF_ACTIN_BINDING, GOBP_IMPORT_INTO_CELL, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_ENDOCYTOSIS, GOBP_REGULATION_OF_BODY_FLUID_LEVELS

GO Biological Process (6): renal water homeostasis (GO:0003091), endocytosis (GO:0006897), actin filament organization (GO:0007015), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), endosomal transport (GO:0016197)

GO Molecular Function (9): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), small GTPase binding (GO:0031267), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myosin complex (GO:0016459), cytoplasmic vesicle membrane (GO:0030659), protein-containing complex (GO:0032991), apical cortex (GO:0045179), extracellular exosome (GO:0070062), recycling endosome (GO:0055037)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Aquaporin-mediated transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
vesicle-mediated transport	2
transport	2
cellular anatomical structure	2
renal system process	1
multicellular organismal-level water homeostasis	1
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
intracellular transport	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
GTPase binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
actin cytoskeleton	1
protein-containing complex	1
vesicle membrane	1
cytoplasmic vesicle	1
cellular_component	1
cell cortex region	1
extracellular vesicle	1
endosome	1

Protein interactions and networks

STRING

3344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO5B	RAB11A	P24410	999
MYO5B	RAB11FIP2	Q7L804	998
MYO5B	RAB8A	P24407	991
MYO5B	OPTN	Q96CV9	973
MYO5B	RAB25	P57735	931
MYO5B	RAB10	P61026	913
MYO5B	RAB11FIP5	Q9BXF6	900
MYO5B	RAB11FIP1	Q6WKZ4	848
MYO5B	EXOC6	Q8TAG9	752
MYO5B	EPCAM	P16422	723
MYO5B	SPINT2	O43291	705
MYO5B	FMN2	Q9NZ56	694
MYO5B	RAB3IP	Q96QF0	675
MYO5B	NEUROG3	Q9Y4Z2	651
MYO5B	STX3	Q13277	640

IntAct

112 interactions, top by confidence:

A	B	Type	Score
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
MAPK7	PFDN6	psi-mi:“MI:0914”(association)	0.640
MYO5B	BNIP2	psi-mi:“MI:0915”(physical association)	0.560
MYO5B	TCF4	psi-mi:“MI:0915”(physical association)	0.560
BNIP2	MYO5B	psi-mi:“MI:0915”(physical association)	0.560
MYO5B	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
MYO5B	AMOTL2	psi-mi:“MI:0915”(physical association)	0.560
TRIM54	MYO5B	psi-mi:“MI:0915”(physical association)	0.560
AMOTL2	MYO5B	psi-mi:“MI:0915”(physical association)	0.560
TCF4	MYO5B	psi-mi:“MI:0915”(physical association)	0.560
DKK3	NME4	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
MYL2	MYL5	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (148): MYO5B (Two-hybrid), TCF4 (Two-hybrid), AMOTL2 (Two-hybrid), TRIM54 (Two-hybrid), MYO5B (Affinity Capture-MS), RAB11FIP2 (Reconstituted Complex), MYO5B (Affinity Capture-MS), MYO5B (Affinity Capture-MS), MYO5B (Affinity Capture-MS), MYO5B (Co-fractionation), MYO5B (Affinity Capture-MS), MYO5B (Affinity Capture-MS), MYO5B (Affinity Capture-MS), MYO5B (Affinity Capture-MS), MYO5B (Affinity Capture-MS)

ESM2 similar proteins: B2RTY4, E7EZG2, E7F3F0, F4I507, F4JIU4, F4K0A6, O23653, O43502, O43795, O81770, P00860, P09057, P11926, P21271, P27117, P27118, P27119, P27120, P46735, P70569, Q02440, Q05096, Q13459, Q33DR3, Q5VQ09, Q63358, Q6ZLP5, Q86YH6, Q8C170, Q8R2J9, Q8W0Z9, Q99104, Q9FL12, Q9FZ06, Q9FZL4, Q9LFG8, Q9LHE9, Q9LPC6, Q9LYU8, Q9M8Z7

Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 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
RHO GTPases activate PAKs	6	43.5×	2e-06
RHO GTPases activate CIT	5	40.1×	2e-05
Striated Muscle Contraction	6	24.7×	2e-05
RHO GTPases activate PKNs	5	21.1×	4e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	12.3×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
actin filament organization	8	9.4×	2e-03
actin cytoskeleton organization	8	6.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1760 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	72
Likely pathogenic	32
Uncertain significance	743
Likely benign	635
Benign	159

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031041	NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter)	Pathogenic
1073731	NM_001080467.3(MYO5B):c.4126C>T (p.Gln1376Ter)	Pathogenic
1075058	NM_001080467.3(MYO5B):c.3502del (p.Glu1168fs)	Pathogenic
1301570	NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter)	Pathogenic
1358635	NM_001080467.3(MYO5B):c.3961G>T (p.Gly1321Ter)	Pathogenic
1389337	NM_001080467.3(MYO5B):c.3190C>T (p.Arg1064Ter)	Pathogenic
1412155	NM_001080467.3(MYO5B):c.3550del (p.Gln1184fs)	Pathogenic
1419232	NM_001080467.3(MYO5B):c.3873G>A (p.Trp1291Ter)	Pathogenic
1454816	NM_001080467.3(MYO5B):c.1087C>T (p.Arg363Ter)	Pathogenic
1679140	NM_001080467.3(MYO5B):c.4090C>T (p.Gln1364Ter)	Pathogenic
1686942	NM_001080467.3(MYO5B):c.274C>T (p.Arg92Cys)	Pathogenic
1686943	NM_001080467.3(MYO5B):c.2395C>T (p.Arg799Trp)	Pathogenic
1686944	NM_001080467.3(MYO5B):c.2414+5G>T	Pathogenic
1686945	NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys)	Pathogenic
1686950	NM_001080467.3(MYO5B):c.2259_2262dup (p.Tyr755fs)	Pathogenic
1686951	NM_001080467.3(MYO5B):c.1222A>T (p.Ile408Phe)	Pathogenic
1686952	NM_001080467.3(MYO5B):c.1582C>T (p.Leu528Phe)	Pathogenic
1686955	NM_001080467.3(MYO5B):c.1489A>T (p.Ile497Phe)	Pathogenic
1686956	NM_001080467.3(MYO5B):c.1720G>T (p.Glu574Ter)	Pathogenic
1686957	NM_001080467.3(MYO5B):c.3538-1G>A	Pathogenic
1686959	NM_001080467.3(MYO5B):c.1021C>T (p.Gln341Ter)	Pathogenic
1686961	NM_001080467.3(MYO5B):c.1860dup (p.Met621fs)	Pathogenic
1686963	NM_001080467.3(MYO5B):c.28-2A>G	Pathogenic
1686964	NM_001080467.3(MYO5B):c.4366C>T (p.Gln1456Ter)	Pathogenic
1686965	NM_001080467.3(MYO5B):c.4460-1G>C	Pathogenic
1686966	NM_001080467.3(MYO5B):c.1540T>C (p.Cys514Arg)	Pathogenic
1686967	NM_001080467.3(MYO5B):c.2330del (p.Gly777fs)	Pathogenic
1908602	NM_001080467.3(MYO5B):c.896_897dup (p.Asp300fs)	Pathogenic
1934311	NM_001080467.3(MYO5B):c.5277del (p.Ile1760fs)	Pathogenic
1974743	NM_001080467.3(MYO5B):c.3823C>T (p.Arg1275Ter)	Pathogenic

SpliceAI

7024 predictions. Top by Δscore:

Variant	Effect	Δscore
18:49835339:CTCA:C	donor_loss	1.0000
18:49835340:TCA:T	donor_loss	1.0000
18:49835341:CA:C	donor_loss	1.0000
18:49835342:A:AC	donor_gain	1.0000
18:49835343:C:CC	donor_gain	1.0000
18:49835343:C:CT	donor_loss	1.0000
18:49835421:CAAT:C	acceptor_gain	1.0000
18:49835424:TCT:T	acceptor_loss	1.0000
18:49835424:TCTGT:T	acceptor_loss	1.0000
18:49835425:C:CC	acceptor_gain	1.0000
18:49835425:C:T	acceptor_loss	1.0000
18:49835425:CTGTT:C	acceptor_loss	1.0000
18:49835426:T:A	acceptor_loss	1.0000
18:49835426:T:G	acceptor_loss	1.0000
18:49837512:CTTAC:C	donor_loss	1.0000
18:49837514:TACCT:T	donor_loss	1.0000
18:49837515:ACCT:A	donor_loss	1.0000
18:49837516:C:CT	donor_loss	1.0000
18:49837798:AGAAA:A	acceptor_gain	1.0000
18:49837799:GAAA:G	acceptor_gain	1.0000
18:49837800:AAA:A	acceptor_gain	1.0000
18:49837801:AA:A	acceptor_gain	1.0000
18:49837803:C:CC	acceptor_gain	1.0000
18:49837803:CT:C	acceptor_loss	1.0000
18:49837804:T:G	acceptor_loss	1.0000
18:49841450:TGCTT:T	acceptor_gain	1.0000
18:49841451:GCTTC:G	acceptor_loss	1.0000
18:49841452:CTT:C	acceptor_gain	1.0000
18:49841453:TT:T	acceptor_gain	1.0000
18:49841453:TTC:T	acceptor_loss	1.0000

AlphaMissense

12287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:49836787:A:G	L1746P	1.000
18:49837539:A:G	W1706R	1.000
18:49837539:A:T	W1706R	1.000
18:49837565:A:G	L1697P	1.000
18:49929569:A:G	L678P	1.000
18:49936284:G:C	C657W	1.000
18:49936286:A:G	C657R	1.000
18:49936327:A:G	L643P	1.000
18:49962358:A:G	W485R	1.000
18:49962358:A:T	W485R	1.000
18:49962379:A:G	Y478H	1.000
18:49962387:T:G	Q475P	1.000
18:49962955:G:C	F466L	1.000
18:49962955:G:T	F466L	1.000
18:49962957:A:G	F466L	1.000
18:49962968:A:G	L462P	1.000
18:49962985:G:C	N456K	1.000
18:49962985:G:T	N456K	1.000
18:49963027:A:C	F442L	1.000
18:49963027:A:T	F442L	1.000
18:49963029:A:G	F442L	1.000
18:49974350:C:T	G441E	1.000
18:49974351:C:A	G441W	1.000
18:49974359:T:A	D438V	1.000
18:49974359:T:G	D438A	1.000
18:49974362:A:G	L437P	1.000
18:49992384:A:C	F220L	1.000
18:49992384:A:T	F220L	1.000
18:49992386:A:G	F220L	1.000
18:49992390:G:C	S218R	1.000

dbSNP variants (sampled 300 via entrez): RS1000003697 (18:50111121 G>A,T), RS1000003925 (18:49963967 C>T), RS1000007109 (18:49845877 G>A), RS1000007470 (18:49894726 T>C), RS1000010916 (18:50036831 G>A), RS1000013236 (18:50146666 A>G), RS1000020857 (18:50118648 G>A,T), RS1000029906 (18:50109276 G>A), RS1000030308 (18:50188889 A>G), RS1000033745 (18:49852496 C>G,T), RS1000039556 (18:50042728 CGGT>C), RS1000041210 (18:50001696 G>A,C), RS1000046410 (18:49883458 T>C), RS1000048744 (18:49990754 T>C), RS1000053977 (18:50074342 T>C)

Disease associations

OMIM: gene MIM:606540 | disease phenotypes: MIM:251850, MIM:619868, MIM:266600

GenCC curated gene-disease

Disease	Classification	Inheritance
microvillus inclusion disease	Definitive	Autosomal recessive
cholestasis, progressive familial intrahepatic, 10	Strong	Autosomal recessive
digestive system disorder	Strong	Autosomal recessive
progressive familial intrahepatic cholestasis type 1	Supportive	Autosomal recessive

Mondo (5): microvillus inclusion disease (MONDO:0009635), cholestasis, progressive familial intrahepatic, 10 (MONDO:0030810), inflammatory bowel disease 1 (MONDO:0009960), progressive familial intrahepatic cholestasis type 1 (MONDO:0008892), digestive system disorder (MONDO:0004335)

Orphanet (1): Microvillus inclusion disease (Orphanet:2290)

HPO phenotypes

35 total (30 of 35 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000121	Nephrocalcinosis
HP:0000952	Jaundice
HP:0000989	Pruritus
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001522	Death in infancy
HP:0001744	Splenomegaly
HP:0001942	Metabolic acidosis
HP:0001944	Dehydration
HP:0002014	Diarrhea
HP:0002240	Hepatomegaly
HP:0002242	Abnormal intestine morphology
HP:0002908	Conjugated hyperbilirubinemia
HP:0003073	Hypoalbuminemia
HP:0003124	Hypercholesterolemia
HP:0003270	Abdominal distention
HP:0003573	Increased total bilirubin
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0004322	Short stature
HP:0004385	Protracted diarrhea
HP:0004395	Malnutrition
HP:0006580	Portal fibrosis
HP:0011106	Hypovolemia
HP:0011463	Childhood onset
HP:0011472	Abnormal small intestinal villus morphology
HP:0011473	Villous atrophy
HP:0011985	Acholic stools

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST003997_41	Myopia	2.000000e-16
GCST005446_3	Total cholesterol levels in HDL	2.000000e-06
GCST005446_4	Total cholesterol levels in HDL	2.000000e-06
GCST005455_15	Mean diameter of HDL particles	2.000000e-08
GCST005455_16	Mean diameter of HDL particles	2.000000e-08
GCST005455_17	Mean diameter of HDL particles	3.000000e-08
GCST005497_12	Large HDL particle concentration	4.000000e-09
GCST005497_13	Large HDL particle concentration	4.000000e-09
GCST005497_14	Large HDL particle concentration	1.000000e-08
GCST005499_1	Phospholipid levels in large HDL	3.000000e-09
GCST005499_19	Phospholipid levels in large HDL	3.000000e-09
GCST005499_2	Phospholipid levels in large HDL	1.000000e-08
GCST005503_3	Medium HDL particle concentration	1.000000e-08
GCST005503_4	Medium HDL particle concentration	1.000000e-08
GCST005504_14	Phospholipid levels in medium HDL	3.000000e-08
GCST005504_4	Phospholipid levels in medium HDL	2.000000e-08
GCST005504_5	Phospholipid levels in medium HDL	2.000000e-08
GCST005513_6	Apolipoprotein A1 levels	8.000000e-09
GCST005513_7	Apolipoprotein A1 levels	8.000000e-09
GCST005513_8	Apolipoprotein A1 levels	4.000000e-08
GCST006186_2	Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)	8.000000e-06
GCST006195_92	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-08
GCST006291_35	Spherical equivalent or myopia (age of diagnosis)	2.000000e-12
GCST009100_1	Resistant hypertension	6.000000e-08
GCST009597_197	Multiple sclerosis	3.000000e-06
GCST010002_139	Refractive error	4.000000e-60
GCST010241_184	Apolipoprotein A1 levels	2.000000e-28
GCST010242_287	HDL cholesterol levels	1.000000e-26
GCST012419_8	Longevity (100 years and older)	5.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0004847	age at onset
EFO:1002006	treatment-resistant hypertension

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005767	Gastrointestinal Diseases	C06.405

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	7
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	6
Tobacco Smoke Pollution	affects expression, increases expression, increases methylation	3
sodium arsenite	increases expression, affects expression	2
Air Pollutants	increases abundance, increases expression	2
Calcitriol	increases expression, affects cotreatment	2
Tretinoin	decreases expression, increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
trichostatin A	increases expression	1
beta-lapachone	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases 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	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Panobinostat	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Caffeine	increases phosphorylation	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SZ66	HAP1 MYO5B (-) 1	Cancer cell line	Male
CVCL_XQ82	HAP1 MYO5B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01318928	PHASE4	UNKNOWN	The Treatment of Periodontal Diseases
NCT02267681	PHASE4	COMPLETED	Opioid Effects on Cognitive Function Following Colonoscopy
NCT02764671	PHASE4	UNKNOWN	Safety and Immunogenicity of Recombinant Hepatitis B Vaccines in the Neonates
NCT03646292	PHASE4	COMPLETED	Antidiabetic Drugs for Steatotic Liver Disease
NCT03723447	PHASE4	COMPLETED	Intraoperative TAP Block With Bupivacaine/Dexamethasone Against Liposomal Bupivacaine (Exparel®)
NCT06271538	PHASE4	RECRUITING	Evaluation of Efficacy of Skål Pro Powder on Symptoms of Irritable Bowel Syndrome
NCT03353454	PHASE3	WITHDRAWN	A Placebo-controlled Study of Maralixibat (SHP625) in Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT03566238	PHASE3	COMPLETED	This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC Types 1 or 2
NCT03659916	PHASE3	COMPLETED	Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC
NCT03905330	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC)
NCT04185363	PHASE3	COMPLETED	An Extension Study of Maralixibat in Patients With Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT05543187	PHASE3	COMPLETED	A Study of TAK-625 for the Treatment of Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT01009593	PHASE3	TERMINATED	Efficacy and Tolerability of ABT-869 Versus Sorafenib in Advanced Hepatocellular Carcinoma (HCC)
NCT01304394	PHASE3	COMPLETED	Safety During Use of Paediatric Triple Chamber Bag Formulas
NCT01485328	PHASE3	COMPLETED	Protocol: Phytomedicine-AMARGOL®, Clinical Trial for Efficacy Proof on Therapeutics
NCT01696734	PHASE3	RECRUITING	Domperidone in Treating Patients With Gastrointestinal Disorders
NCT01964430	PHASE3	COMPLETED	Nab-paclitaxel and Gemcitabine vs Gemcitabine Alone as Adjuvant Therapy for Patients With Resected Pancreatic Cancer (the Apact Study)
NCT03008460	PHASE3	COMPLETED	Efficacy, Safety and Tolerability of Eziclen®/Izinova® Versus Klean-prep® on Bowel Cleansing in Adolescents Undergoing Colonoscopy
NCT03509220	PHASE3	COMPLETED	Safety and Efficacy of PBK-1701TC for Bowel Cleansing Before Colonoscopy
NCT05923918	PHASE3	UNKNOWN	A Study to Evaluate Safety and Efficacy of PBK_M2101
NCT06817161	PHASE3	RECRUITING	Benefit of Transcutaneous Auricular Vagus Nerve Stimulation in Improving Quality of Life in First Line Treatment of Ovarian Cancer:
NCT07076641	PHASE3	NOT_YET_RECRUITING	Efficacy and Safety of Intravenous Lidocaine Versus Placebo in Patients Receiving Morphine-rachi Analgesia
NCT07114406	PHASE3	NOT_YET_RECRUITING	A Study to Evaluate Safety and Efficacy of PBK_M2502
NCT07222800	PHASE3	RECRUITING	Symbiotic-GI-03: A Study to Learn About the Study Medicine Called PF-08634404 in Combination With Chemotherapy in Adult Participants With Metastatic Colorectal Cancer
NCT01585155	PHASE3	COMPLETED	Clinical Study of TA-650 in Pediatric Patients With Ulcerative Colitis
NCT06721871	PHASE2	RECRUITING	Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)
NCT02057718	PHASE2	COMPLETED	Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 (Maralixibat) in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis
NCT04729751	PHASE2	COMPLETED	A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS).
NCT00072943	PHASE2	COMPLETED	A Humanized Anti-Interferon-γ Monoclonal Antibody (HuZAF) for Moderate to Severe Crohn’s Disease
NCT01037049	PHASE2	UNKNOWN	Optimum Timing for Surgery After Pre-operative Radiotherapy 6 vs 12 Weeks
NCT01695850	PHASE2	COMPLETED	A Double-blinded,Double-dummy Clinical Trial of Chinese Herbal Medicine (MaZiRenWan) for Functional Constipation
NCT02189707	PHASE2	COMPLETED	Effects of Probiotic Supplementation on Colonic Transit Time and Gastrointestinal Symptoms in Adults With Constipation.
NCT02613403	PHASE2	TERMINATED	Efficacy and Safety of Grazoprevir (+) Uprifosbuvir (+) Ruzasvir (MK-3682B) (MK-5172 + MK-3682 + MK-8408) Fixed Dose Combination in Chronic HCV Participants Failing Prior Antiviral Treatment (MK-3682-021)
NCT02647866	PHASE2	COMPLETED	Study of a Monoclonal Antibody KHK4083 in Moderate Ulcerative Colitis
NCT03011255	PHASE2	UNKNOWN	Combination of Radiation Therapy and Peptide Specific CTL Therapy in Treating Patients With Esophageal Cancer
NCT03408886	PHASE2	ACTIVE_NOT_RECRUITING	Microbiota Transfer Therapy for Adults With Autism Spectrum Disorder (ASD) Who Have Gastrointestinal Disorders
NCT03549494	PHASE2	COMPLETED	Evaluation of Ocoxin®-Viusid® in Advanced Stomach Cancer and Gastric Esophagogastric Junction
NCT03559543	PHASE2	COMPLETED	Evaluation of Ocoxin®-Viusid® in Metastatic Colorectal Adenocarcinoma
NCT03644069	PHASE2	UNKNOWN	A Study of the Safety, Efficacy and Tolerability of Nexvax-2 in Patients With Celiac Disease (CeD)
NCT03656744	PHASE2	COMPLETED	A Study of HTD1801 in Adults With Nonalcoholic Steatohepatitis (NASH) and Type 2 Diabetes Mellitus (T2DM)