MYO19

Summary

MYO19 (myosin XIX, HGNC:26234) is a protein-coding gene on chromosome 17q12, encoding Unconventional myosin-XIX (Q96H55). Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane.

Enables ATP hydrolysis activity and actin binding activity. Involved in regulation of cytokinesis and regulation of mitochondrial fission. Acts upstream of or within mitochondrion migration along actin filament. Located in cytosol and mitochondrial outer membrane.

Source: NCBI Gene 80179 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 576 total — 5 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001163735

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26234
Approved symbol	MYO19
Name	myosin XIX
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22865
Ensembl gene	ENSG00000278259
Ensembl biotype	protein_coding
OMIM	617379
Entrez	80179

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 24 protein_coding, 11 retained_intron, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000610496, ENST00000610576, ENST00000610930, ENST00000610992, ENST00000611063, ENST00000611125, ENST00000611622, ENST00000611794, ENST00000612097, ENST00000612392, ENST00000613551, ENST00000614416, ENST00000614623, ENST00000615902, ENST00000616159, ENST00000616207, ENST00000617167, ENST00000617189, ENST00000620413, ENST00000620567, ENST00000620640, ENST00000620644, ENST00000620869, ENST00000620943, ENST00000621344, ENST00000621550, ENST00000622055, ENST00000884132, ENST00000884133, ENST00000884134, ENST00000884135, ENST00000884136, ENST00000929267, ENST00000929268, ENST00000929269, ENST00000929270, ENST00000929271, ENST00000929272, ENST00000929273, ENST00000929274, ENST00000969859, ENST00000969860, ENST00000969861

RefSeq mRNA: 3 — MANE Select: NM_001163735 NM_001033580, NM_001163735, NM_025109

CCDS: CCDS45654, CCDS54112, CCDS59283

Canonical transcript exons

ENST00000614623 — 26 exons

Exon	Start	End
ENSE00003714785	36507399	36507512
ENSE00003716040	36534761	36534868
ENSE00003716424	36513429	36513505
ENSE00003718031	36513629	36513725
ENSE00003722181	36515113	36515182
ENSE00003722657	36503097	36503200
ENSE00003724020	36514446	36514548
ENSE00003726309	36506963	36507139
ENSE00003731177	36500830	36500959
ENSE00003731299	36501069	36501235
ENSE00003732071	36503950	36504020
ENSE00003733516	36506456	36506608
ENSE00003739224	36532527	36532681
ENSE00003740017	36498266	36498559
ENSE00003740325	36528064	36528202
ENSE00003741390	36525228	36525341
ENSE00003743096	36505297	36505404
ENSE00003743161	36510746	36510917
ENSE00003743210	36515858	36515990
ENSE00003745082	36511365	36511455
ENSE00003746798	36507803	36507924
ENSE00003749191	36527551	36527699
ENSE00003749592	36533953	36534104
ENSE00003750368	36499075	36499160
ENSE00003752934	36495636	36496406
ENSE00003754831	36509062	36509135

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 96.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.6050 / max 201.6748, expressed in 1807 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165452	10.9142	1733
165456	6.0168	1566
165454	2.7487	1404
165455	2.3397	1376
165453	1.9912	1120
165451	1.1587	618
165450	0.3782	186
165447	0.0312	9
208161	0.0262	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	96.46	gold quality
skin of abdomen	UBERON:0001416	96.45	gold quality
metanephros cortex	UBERON:0010533	95.20	gold quality
right testis	UBERON:0004534	95.05	gold quality
left testis	UBERON:0004533	94.87	gold quality
lower esophagus mucosa	UBERON:0035834	94.61	gold quality
zone of skin	UBERON:0000014	94.49	gold quality
minor salivary gland	UBERON:0001830	94.34	gold quality
esophagus mucosa	UBERON:0002469	94.33	gold quality
rectum	UBERON:0001052	94.30	gold quality
mucosa of transverse colon	UBERON:0004991	93.59	gold quality
right uterine tube	UBERON:0001302	93.34	gold quality
transverse colon	UBERON:0001157	93.21	gold quality
body of stomach	UBERON:0001161	93.19	gold quality
upper arm skin	UBERON:0004263	93.17	gold quality
body of pancreas	UBERON:0001150	93.12	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.88	gold quality
bone marrow cell	CL:0002092	92.74	gold quality
ectocervix	UBERON:0012249	92.47	gold quality
colonic epithelium	UBERON:0000397	92.45	gold quality
stomach	UBERON:0000945	92.40	gold quality
right lobe of thyroid gland	UBERON:0001119	92.03	gold quality
mouth mucosa	UBERON:0003729	92.00	gold quality
left lobe of thyroid gland	UBERON:0001120	91.68	gold quality
testis	UBERON:0000473	91.66	gold quality
saliva-secreting gland	UBERON:0001044	91.64	gold quality
esophagus	UBERON:0001043	91.62	gold quality
small intestine	UBERON:0002108	91.38	gold quality
adenohypophysis	UBERON:0002196	91.35	gold quality
nipple	UBERON:0002030	91.26	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting MYO19, 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-4713-3P	100.00	65.92	505
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-4659A-3P	99.80	72.62	4248

Literature-anchored findings (GeneRIF, showing 8)

• These results suggest that this novel myosin functions as an actin-based motor for mitochondrial movement in vertebrate cells. (PMID:19932026)
• Myo19 is a novel regulator of cell division. (PMID:25447992)
• Myo19 is a stably attached OMM molecular motor. (PMID:26659663)
• these data indicate that the MyMOMA domain contains strong membrane-binding activity, and membrane targeting is mediated by a specific, basic region of the MYO19 tail with slow dissociation kinetics appropriate for its role(s) in mitochondrial network dynamics (PMID:27126804)
• we provide a model explaining how Myo19 translocation may be regulated by the local ATP/ADP ratio, coupled to the mitochondria presence in the filopodia. (PMID:28912602)
• Miro1 binds directly to a C-terminal fragment of the Myo19 tail region and that Miro1/2 recruit the Myo19 tail. (PMID:30111583)
• The MyMOMA domain of MYO19 encodes for distinct Miro-dependent and Miro-independent mechanisms of interaction with mitochondrial membranes. (PMID:31479585)
• Coordination of mitochondrial and cellular dynamics by the actin-based motor Myo19. (PMID:34013964)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo19	ENSDARG00000073761
mus_musculus	Myo19	ENSMUSG00000020527
rattus_norvegicus	Myo19	ENSRNOG00000002852

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), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535)

Protein

Protein identifiers

Unconventional myosin-XIX — Q96H55 (reviewed: Q96H55)

Alternative names: Myosin head domain-containing protein 1

All UniProt accessions (9): Q96H55, A0A087WU55, A0A087WVH0, A0A087WVV4, A0A087WW10, A0A087WY49, A0A087WYT7, A0A087WZQ9, B4DSL5

UniProt curated annotations — full annotation on UniProt →

Function. Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane. Motor protein that moves towards the plus-end of actin filaments. Required for mitochondrial inheritance during mitosis. May be involved in mitochondrial transport or positioning.

Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains: interacts with myosin light chains MYL9 and MYL12B.

Subcellular location. Mitochondrion outer membrane. Cytoplasm. Cytoskeleton.

Tissue specificity. Widely expressed in multiple tissues and cell lines.

Domain organisation. The MyMOMA (MYO19-specific mitochondrial outer membrane-association) region mediates association with the mitochondrion outer membrane via electrostatic interaction.

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

Isoforms (4)

UniProt ID	Names	Canonical?
Q96H55-1	1	yes
Q96H55-2	2
Q96H55-3	3
Q96H55-4	4

RefSeq proteins (3): NP_001028752, NP_001157207, NP_079385 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001609	Myosin_head_motor_dom-like	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036035	MYSc_Myo19	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063

UniProt features (22 total): mutagenesis site 6, splice variant 5, domain 3, sequence variant 3, region of interest 2, chain 1, binding site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96H55-F1	76.93	0.40

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): 132–139

Post-translational modifications (1): 685

Mutagenesis-validated functional residues (6):

Position	Phenotype
135	rigor-like phenotype due to disruption of atp-binding. does not affect localization to mitochondrion.
855	does not affect localization to mitochondrion outer membrane.
882–883	abolishes localization to mitochondrion outer membrane.
915	does not affect localization to mitochondrion outer membrane.
923	does not affect localization to mitochondrion outer membrane.
927–928	does not affect localization to mitochondrion outer membrane.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9013419	RHOT2 GTPase cycle
R-HSA-9013425	RHOT1 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-9715370	Miro GTPase Cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 185 (showing top): GCANCTGNY_MYOD_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, ACTGCAG_MIR173P, USF_C, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, MODULE_205, GOBP_ORGANELLE_FISSION, GATA3_01, GOBP_CYTOKINESIS, GOBP_MITOCHONDRIAL_FISSION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_REGULATION_OF_MITOCHONDRIAL_FISSION, GOBP_REGULATION_OF_CYTOKINESIS

GO Biological Process (7): endocytosis (GO:0006897), actin filament organization (GO:0007015), regulation of cytokinesis (GO:0032465), mitochondrion migration along actin filament (GO:0034642), regulation of mitochondrial fission (GO:0090140), mitocytosis (GO:0160040), establishment of mitochondrion localization (GO:0051654)

GO Molecular Function (10): microfilament motor activity (GO:0000146), actin binding (GO:0003779), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), myosin light chain binding (GO:0032027), actin filament binding (GO:0051015), plus-end directed microfilament motor activity (GO:0060002), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), cytoskeletal protein binding (GO:0008092)

GO Cellular Component (8): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myosin complex (GO:0016459), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Miro GTPase Cycle	2
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
establishment of mitochondrion localization	2
ATP-dependent activity	2
cytoplasm	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cytokinesis	1
regulation of cell cycle process	1
regulation of cell division	1
actin filament-based movement	1
actin filament-based transport	1
mitochondrial fission	1
regulation of mitochondrion organization	1
regulation of anatomical structure morphogenesis	1
mitochondrion distribution	1
migracytosis	1
mitochondrion localization	1
establishment of organelle localization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
cytoskeletal protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
myosin binding	1
actin binding	1
protein-containing complex binding	1
microfilament motor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
protein binding	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1

Protein interactions and networks

STRING

2605 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO19	TRAK2	O60296	796
MYO19	RHOT1	Q8IXI2	786
MYO19	TRAK1	Q9UPV9	771
MYO19	RHOT2	Q8IXI1	755
MYO19	GGNBP2	Q9H3C7	644
MYO19	MRM1	Q6IN84	625
MYO19	ZNHIT3	Q15649	601
MYO19	PIGW	Q7Z7B1	599
MYO19	C17orf78	Q8N4C9	575
MYO19	DHRS11	Q6UWP2	557
MYO19	SYNRG	Q9UMZ2	556
MYO19	SNPH	O15079	538
MYO19	TADA2A	O75478	534
MYO19	DDX52	Q9Y2R4	498
MYO19	TPM1	P09493	488

IntAct

91 interactions, top by confidence:

A	B	Type	Score
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
MYO19	MYL12B	psi-mi:“MI:0914”(association)	0.530
MYL10	IQGAP1	psi-mi:“MI:0914”(association)	0.530
MYL2	MYL5	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TRAK2	OGT	psi-mi:“MI:0914”(association)	0.530
TRAK1	MTX2	psi-mi:“MI:0914”(association)	0.530
HTRA2	HAX1	psi-mi:“MI:2364”(proximity)	0.420
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tmod3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tpm1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	ITGB4	psi-mi:“MI:0914”(association)	0.350
DBN1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SYNPO	LMO7	psi-mi:“MI:0914”(association)	0.350
Myo1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Kif3c	ARPC1B	psi-mi:“MI:0914”(association)	0.350
CAPZA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
IQGAP1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
PPP1CB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350

BioGRID (304): MYO19 (Affinity Capture-MS), MYO19 (Affinity Capture-MS), MYO19 (Affinity Capture-MS), MYO19 (Affinity Capture-MS), ACTG1 (Affinity Capture-MS), ACTN4 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), ADD3 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), ANXA2 (Affinity Capture-MS), CALD1 (Affinity Capture-MS), CAPZA1 (Affinity Capture-MS), CAPZA2 (Affinity Capture-MS), CAPZB (Affinity Capture-MS)

ESM2 similar proteins: A4II46, A4Q9F4, B2RTY4, C9J798, E1BPK6, E7EZG2, E7F3F0, F4K0A6, O43795, O70293, O88910, O88954, O94806, O95267, P42694, P46735, P97711, Q05096, Q13368, Q13459, Q15139, Q3LAC4, Q5R6F6, Q5SV80, Q5XIS9, Q62101, Q63358, Q69ZK0, Q6DFV5, Q6NYU2, Q6Y5D8, Q6ZQ82, Q70Z35, Q7Z406, Q8AVG0, Q8BZ03, Q8C170, Q8K1Y2, Q8N9B8, Q8TCU6

Diamond homologs: A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A6SED8, A7EK16, A8N2Y6, B0Y9Q4, D3ZJP6, E1BPK6, E9Q634, F4HWY6, F4HXP9, F4I460, F4I507, F4I5Q6, F4IRU3, F4IUG9, F4IVR7, F4JIU4, F4JM19, F4K0A6, F4K5J1, F8VQB6, K7U9N8, O00160, O74805, O94477, P05659, P08799, P14105, P19524, P19706, P21271, P22467, P24733, P32492, P34092, P34109

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 133 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	5	31.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	405
Likely benign	115
Benign	9

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
156156	NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro)	Pathogenic
1704326	NM_001346754.2(PIGW):c.178G>A (p.Asp60Asn)	Pathogenic
1704327	NM_001346754.2(PIGW):c.462A>T (p.Arg154Ser)	Pathogenic
1704328	NM_001346754.2(PIGW):c.77T>C (p.Leu26Ser)	Pathogenic
495299	NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly)	Pathogenic
1031309	NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs)	Likely pathogenic
4833029	NM_001346754.2(PIGW):c.2T>C (p.Met1Thr)	Likely pathogenic

SpliceAI

5180 predictions. Top by Δscore:

Variant	Effect	Δscore
17:36496405:CC:C	acceptor_gain	1.0000
17:36496406:CC:C	acceptor_gain	1.0000
17:36499069:A:AC	donor_gain	1.0000
17:36499070:C:CC	donor_gain	1.0000
17:36499073:A:AC	donor_gain	1.0000
17:36499074:C:CC	donor_gain	1.0000
17:36499074:CT:C	donor_gain	1.0000
17:36499170:T:C	acceptor_gain	1.0000
17:36499170:T:TC	acceptor_gain	1.0000
17:36499175:C:CT	acceptor_gain	1.0000
17:36499175:C:T	acceptor_gain	1.0000
17:36499176:A:T	acceptor_gain	1.0000
17:36499181:C:CT	acceptor_gain	1.0000
17:36499182:A:T	acceptor_gain	1.0000
17:36500825:CCTA:C	donor_loss	1.0000
17:36500827:TA:T	donor_loss	1.0000
17:36500829:C:CA	donor_loss	1.0000
17:36500955:TCCA:T	acceptor_gain	1.0000
17:36500956:CCAG:C	acceptor_gain	1.0000
17:36500957:CAG:C	acceptor_gain	1.0000
17:36500957:CAGC:C	acceptor_gain	1.0000
17:36500958:A:T	acceptor_gain	1.0000
17:36500958:AGCTG:A	acceptor_loss	1.0000
17:36500959:GC:G	acceptor_loss	1.0000
17:36500960:C:CC	acceptor_gain	1.0000
17:36503945:CTCA:C	donor_loss	1.0000
17:36503946:TCA:T	donor_loss	1.0000
17:36503947:CA:C	donor_loss	1.0000
17:36503948:ACC:A	donor_loss	1.0000
17:36505292:ATTAC:A	donor_loss	1.0000

AlphaMissense

6338 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:36515142:A:C	F196L	0.999
17:36515142:A:T	F196L	0.999
17:36515144:A:G	F196L	0.999
17:36515148:A:C	S194R	0.999
17:36515148:A:T	S194R	0.999
17:36515150:T:G	S194R	0.999
17:36506995:A:C	Y538D	0.998
17:36507843:A:G	L438P	0.998
17:36507860:G:C	N432K	0.998
17:36507860:G:T	N432K	0.998
17:36507902:A:C	F418L	0.998
17:36507902:A:T	F418L	0.998
17:36507904:A:G	F418L	0.998
17:36507915:T:G	D414A	0.998
17:36507918:A:G	L413P	0.998
17:36515140:C:T	G197E	0.998
17:36515151:G:C	S193R	0.998
17:36515151:G:T	S193R	0.998
17:36515153:T:G	S193R	0.998
17:36515182:C:T	G183E	0.998
17:36525232:C:T	G137E	0.998
17:36525240:A:C	S134R	0.998
17:36525240:A:T	S134R	0.998
17:36525242:T:G	S134R	0.998
17:36525249:A:C	S131R	0.998
17:36525249:A:T	S131R	0.998
17:36525251:T:G	S131R	0.998
17:36505345:G:C	C619W	0.997
17:36507906:C:T	G417E	0.997
17:36507915:T:A	D414V	0.997

dbSNP variants (sampled 300 via entrez): RS1000009368 (17:36527688 G>A), RS1000054240 (17:36527925 G>A), RS1000071064 (17:36522385 G>A), RS1000075249 (17:36516879 G>C), RS1000104446 (17:36536671 C>T), RS1000152270 (17:36541739 G>A), RS1000168740 (17:36499644 T>C,G), RS1000208710 (17:36495475 C>A,G), RS1000257561 (17:36542182 A>C,G), RS1000260415 (17:36531813 G>C), RS1000282360 (17:36506097 T>C), RS1000308105 (17:36542353 A>T), RS1000325349 (17:36506153 A>C), RS1000420717 (17:36542659 A>C,T), RS1000458536 (17:36511072 A>C,G,T)

Disease associations

OMIM: gene MIM:617379 | disease phenotypes: MIM:616025, MIM:610293

GenCC curated gene-disease

Mondo (3): hyperphosphatasia with intellectual disability syndrome 5 (MONDO:0014457), cleft palate (MONDO:0016064), hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (MONDO:0012465)

Orphanet (3): Hyperphosphatasia-intellectual disability syndrome (Orphanet:247262), Cleft palate (Orphanet:2014), Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (Orphanet:83639)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST005951_15	Body mass index	3.000000e-13
GCST007876_78	Estimated glomerular filtration rate	2.000000e-10
GCST008058_114	Estimated glomerular filtration rate	5.000000e-17
GCST008059_169	Estimated glomerular filtration rate	2.000000e-13
GCST008064_24	Chronic kidney disease	4.000000e-09
GCST008129_89	Body mass index	2.000000e-18
GCST008158_32	Body mass index	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression	4
bisphenol A	decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Testosterone	affects cotreatment, decreases expression	2
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	increases oxidation, affects cotreatment	1
phenethyl isothiocyanate	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects cotreatment, decreases expression	1
Acrolein	affects cotreatment, increases oxidation	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	increases expression	1
Ozone	affects cotreatment, increases oxidation	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9KW	Ubigene HEK293 MYO19 KO	Transformed cell line	Female
CVCL_E0IQ	Ubigene HeLa MYO19 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02422056	PHASE4	COMPLETED	Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty
NCT02915042	PHASE4	WITHDRAWN	Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair
NCT02953145	PHASE4	WITHDRAWN	The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery
NCT03632044	PHASE4	ACTIVE_NOT_RECRUITING	Evaluation of Trigeminal Nerve Blockade
NCT06962306	PHASE4	RECRUITING	Optimizing Perioperative Analgesia to Lower Pain Following Cleft Palate Surgery
NCT00098319	PHASE3	COMPLETED	Oral Cleft Prevention Trial in Brazil
NCT00397917	PHASE3	COMPLETED	Oral Cleft Prevention Program
NCT04928352	PHASE3	RECRUITING	Nebulized Bupivacaine Analgesia for Cleft Palate Repair
NCT04928391	PHASE3	COMPLETED	A Single Bolus of Dexmedetomidine Versus Normal Saline in Postoperative Agitation
NCT00004639	PHASE2	COMPLETED	Cleft Palate Surgery and Speech Development
NCT00760006	PHASE2	COMPLETED	Preventing Complications in Cleft Palate Repair With Antibiotics
NCT01760330	PHASE2	WITHDRAWN	IV Acetaminophen in Children Undergoing Palatoplasty
NCT02350803	PHASE2	COMPLETED	Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse?
NCT03412474	PHASE2	COMPLETED	Suprazygomatic Block in Cleft Palate Surgery in Children
NCT01616953	PHASE1/PHASE2	COMPLETED	Cell Therapy for Craniofacial Bone Defects
NCT02247193	PHASE1/PHASE2	COMPLETED	Botulinum Toxin to Improve Cosmesis of Primary Cleft Lip Repair
NCT00097149	Not specified	COMPLETED	Systematic Pediatric Care for Oral Clefts - South America
NCT00285714	Not specified	UNKNOWN	3D Imaging of Hard and Soft Tissue in Orthognathic Surgery
NCT00340977	Not specified	COMPLETED	Svangerskap, Arv, Og Miljo (Pregnancy, Heredity and Environment)
NCT00423072	Not specified	COMPLETED	Middle Ear Pressure Disregulation in Cleft Palate Patients
NCT00584272	Not specified	COMPLETED	Retrospective Study on the Outcome of Cleft Palate Repair: Comparing US Surgical and Ethicon Suture Materials
NCT00773994	Not specified	COMPLETED	Pilot Study Evaluating Characteristic Closure Patterns of the Normal Velopharyngeal Portal
NCT00779961	Not specified	UNKNOWN	An Investigation for the Optimal Timing of a Cleft Palate Repair
NCT00829101	Not specified	COMPLETED	Articulation and Phonology in Children With Unilateral Cleft Lip and Palate
NCT00993551	Not specified	COMPLETED	Timing of Primary Surgery for Cleft Palate
NCT00993993	Not specified	COMPLETED	Relational Development in Children With Cleft Lips and Palates: Influence of the Waiting Period Prior to the First Surgical Intervention and the Parents’ Psychological Perception of the Abnormality
NCT01046591	Not specified	COMPLETED	Sleep and Behavior in Children With Cleft Palate
NCT01252264	Not specified	COMPLETED	FaceBase Biorepository
NCT01380171	Not specified	COMPLETED	Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes
NCT01500109	Not specified	COMPLETED	Efficacy of Oral Versus Intravenous Acetaminophen for Primary Pediatric Cleft Palate Repair
NCT01535131	Not specified	COMPLETED	Furlow Palatoplasty With Tensor Tenopexy
NCT01601171	Not specified	RECRUITING	Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
NCT01867632	Not specified	COMPLETED	Acellular Dermal Matrix in Primary Palatoplasty
NCT02329509	Not specified	COMPLETED	Evaluation of Facial Growth in Two Primary Protocols Used in the Surgical Treatment of Unilateral Cleft Lip and Palate Patients
NCT02415361	Not specified	COMPLETED	Follow Ups of Parents With Infants With Cleft Lip and Palate
NCT02583100	Not specified	COMPLETED	Improving Outcomes in Cleft Palate Surgery
NCT02595307	Not specified	UNKNOWN	Improving Informed Consent for Cleft Palate Repair
NCT02658318	Not specified	COMPLETED	Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations
NCT02688634	Not specified	WITHDRAWN	The Role of Antibiotic Prophylaxis in Cleft Palate and Velopharyngeal Insufficiency Repair
NCT02702869	Not specified	ENROLLING_BY_INVITATION	Allied Cleft & Craniofacial Quality-Improvement and Research Network (ACCQUIREnet)