MYO18A

Summary

MYO18A (myosin XVIIIA, HGNC:31104) is a protein-coding gene on chromosome 17q11.2, encoding Putative TGFB1-induced anti-apoptotic factor 1 (O95411). Inhibits the cytotoxic effects of TNF and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1.

The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration.

Source: NCBI Gene 399687 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 397 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_078471

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31104
Approved symbol	MYO18A
Name	myosin XVIIIA
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0216, MysPDZ
Ensembl gene	ENSG00000196535
Ensembl biotype	protein_coding
OMIM	609517, 610067
Entrez	399687

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 14 protein_coding, 9 retained_intron, 7 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000359450, ENST00000527312, ENST00000527372, ENST00000528322, ENST00000528564, ENST00000529578, ENST00000529889, ENST00000530254, ENST00000530557, ENST00000531253, ENST00000531267, ENST00000531438, ENST00000531892, ENST00000532143, ENST00000533112, ENST00000533399, ENST00000533420, ENST00000533652, ENST00000546105, ENST00000585573, ENST00000588791, ENST00000590242, ENST00000590565, ENST00000636100, ENST00000704659, ENST00000927983, ENST00000927984, ENST00000927985, ENST00000927986, ENST00000954232, ENST00000954233, ENST00000954234

RefSeq mRNA: 6 — MANE Select: NM_078471 NM_001346765, NM_001346766, NM_001346767, NM_001346768, NM_078471, NM_203318

CCDS: CCDS45641, CCDS45642, CCDS86587, CCDS92285

Canonical transcript exons

ENST00000527372 — 42 exons

Exon	Start	End
ENSE00001297204	29085604	29085648
ENSE00002189252	29165942	29167021
ENSE00002201659	29180313	29180398
ENSE00003458555	29120998	29121211
ENSE00003468625	29089961	29090098
ENSE00003470314	29099634	29099762
ENSE00003471642	29121547	29121723
ENSE00003474691	29098826	29098969
ENSE00003477406	29094650	29094850
ENSE00003491082	29094936	29095059
ENSE00003492643	29090532	29090615
ENSE00003495512	29103599	29103664
ENSE00003517188	29114011	29114097
ENSE00003542242	29121851	29121957
ENSE00003543395	29111722	29111863
ENSE00003547820	29115351	29115441
ENSE00003556863	29086438	29086577
ENSE00003557957	29082316	29082438
ENSE00003571723	29114907	29115099
ENSE00003582604	29096761	29096915
ENSE00003587704	29109858	29110101
ENSE00003587975	29119335	29119435
ENSE00003598107	29097788	29097899
ENSE00003604608	29093980	29094090
ENSE00003605406	29098356	29098445
ENSE00003609947	29111424	29111583
ENSE00003620362	29098105	29098224
ENSE00003623835	29092343	29092456
ENSE00003651716	29090810	29090926
ENSE00003653187	29093323	29093427
ENSE00003653906	29107080	29107189
ENSE00003655480	29116444	29116455
ENSE00003657941	29092855	29093001
ENSE00003661310	29086936	29087121
ENSE00003662421	29110436	29110622
ENSE00003664436	29118045	29118189
ENSE00003679582	29120616	29120758
ENSE00003679830	29097223	29097350
ENSE00003681461	29115664	29115840
ENSE00003693639	29122166	29122253
ENSE00003694328	29118377	29118440
ENSE00003737977	29071122	29074914

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6768 / max 325.6449, expressed in 1815 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165130	16.0891	1757
165120	5.5986	1054
165121	1.8323	703
165129	1.7587	924
165132	1.1153	694
165131	1.0780	648
165115	0.7427	243
165124	0.2854	179
165118	0.0723	21
165114	0.0653	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	99.27	gold quality
skeletal muscle tissue	UBERON:0001134	99.23	gold quality
muscle of leg	UBERON:0001383	99.06	gold quality
apex of heart	UBERON:0002098	98.95	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.84	gold quality
sural nerve	UBERON:0015488	98.66	gold quality
right atrium auricular region	UBERON:0006631	98.12	gold quality
heart left ventricle	UBERON:0002084	98.09	gold quality
corpus callosum	UBERON:0002336	97.74	gold quality
muscle tissue	UBERON:0002385	97.41	gold quality
heart	UBERON:0000948	97.30	gold quality
right lobe of liver	UBERON:0001114	96.90	gold quality
lower esophagus mucosa	UBERON:0035834	96.74	gold quality
colonic epithelium	UBERON:0000397	96.02	gold quality
liver	UBERON:0002107	95.89	gold quality
skin of leg	UBERON:0001511	95.88	gold quality
zone of skin	UBERON:0000014	95.76	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.63	gold quality
skin of abdomen	UBERON:0001416	95.50	gold quality
cerebellum	UBERON:0002037	95.44	gold quality
cerebellar cortex	UBERON:0002129	95.42	gold quality
cerebellar hemisphere	UBERON:0002245	95.42	gold quality
bone marrow cell	CL:0002092	95.41	gold quality
putamen	UBERON:0001874	95.40	gold quality
bone marrow	UBERON:0002371	95.29	gold quality
nucleus accumbens	UBERON:0001882	95.23	gold quality
right coronary artery	UBERON:0001625	95.16	gold quality
substantia nigra	UBERON:0002038	95.13	gold quality
mucosa of transverse colon	UBERON:0004991	94.91	gold quality
esophagus mucosa	UBERON:0002469	94.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting MYO18A, 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-4534	99.99	66.58	1907
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-9851-3P	99.63	69.68	1110

Literature-anchored findings (GeneRIF, showing 17)

• Expression of TIAF-1 in the lymphocytes during chronic allograft rejection may be related to the predominance of a Th2 response in this condition and may protect these cells from apoptosis (PMID:12829915)
• TIAF1 and p53 functionally interact in regulating apoptosis, and TIAF1 is likely to participate in the nuclear translocation of activated p53. (PMID:14965474)
• this dimeric myosin might stably cross-link actin filaments by two ATP-insensitive actin-binding sites at the N-terminal domains for higher-order organization of the actin cytoskeleton (PMID:15835906)
• MyoXVIIIA constitutes a novel receptor for SP-A (PMID:16087679)
• These findings support the hypothesis that SP-A, via SP-R210, suppresses cell-mediated immunity against M. tuberculosis via a mechanism that up-regulates secretion of IL-10 and TGF-beta1.[SP-A receptor] (PMID:18443188)
• Study used a DNA-based long-distance inverse PCR (LDI-PCR) to identify a new MYO18A-PDGFRB fusion gene in an Eos-MPN (eosinophilia-associated atypical myeloproliferative neoplasms) with associated t(5;17)(q33-34;q11.2). (PMID:19006078)
• GOLPH3 bridges phosphatidylinositol-4- phosphate and actomyosin (via MYO18A) to stretch and shape the Golgi to promote budding. (PMID:19837035)
• MYO18A is a novel binding partner of the PAK2/betaPIX/GIT1 complex and suggest that MYO18A may play an important role in regulating epithelial cell migration via affecting multiple cell machineries. (PMID:19923322)
• TIAF1 undergoes self-aggregation in response to TGF-Beta1. (PMID:21368882)
• Myo18aalpha as a novel binding partner of ezrin; the Myo18aalpha/ezrin complex may facilitate B cell receptor-mediated signaling (PMID:21751808)
• In vitro induction of TIAF1 self-association upregulated the expression of tumor suppressors Smad4 and WW domain-containing oxidoreductase (WOX1 or WWOX), and WOX1 in turn increased the TIAF1 expression. (PMID:22534828)
• GOLPH3L differs critically from GOLPH3 in that it is largely unable to bind to MYO18A; data demonstrate that despite their similarities, unexpectedly, GOLPH3L antagonizes GOLPH3/MYO18A at the Golgi (PMID:23345592)
• PDZ module mediates direct binding of myosin-18A to GOLPH3, and this interaction in turn modulates the actin binding properties of the N-terminal extension. Thus, myosin-18A can act as an actin cross-linker with multiple regulatory modulators (PMID:23990465)
• Identification of the DNA-damage-induced Golgi response reveals an unexpected pathway through DNA-PK, GOLPH3, and MYO18A that regulates cell survival following DNA damage. (PMID:24485452)
• Studies indicate that MYO18A is overexpressed in metastatic prostate cancer (PC-3) cells. (PMID:27528748)
• a high proportion of MYO18A is found in complex with GOLPH3 at the trans Golgi, where it functions to promote vesicle budding for Golgi-to-plasma membrane trafficking. (PMID:28942352)
• SP-R210 isoforms of Myosin18A modulate endosomal sorting and recognition of influenza A virus infection in macrophages. (PMID:38135024)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo18ab	ENSDARG00000061862
danio_rerio	myo18aa	ENSDARG00000075752
mus_musculus	Myo18a	ENSMUSG00000000631
rattus_norvegicus	Myo18a	ENSRNOG00000033101
drosophila_melanogaster	Mhcl	FBGN0026059
caenorhabditis_elegans		WBGENE00012437

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), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Putative TGFB1-induced anti-apoptotic factor 1 — O95411 (reviewed: O95411, Q92614)

Alternative names: 12 kDa TGF-beta-1-induced antiapoptotic factor

All UniProt accessions (7): Q92614, A0A1B0GV45, A0A1B0GWJ6, A0A994J771, E9PN42, H0YEV9, K7EKB3

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits the cytotoxic effects of TNF and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation.

Subcellular location. Nucleus.

Tissue specificity. Not detectable in normal kidney and liver. Up-regulated in chronic and acute allograft rejection: expressed in the inflammatory infiltrate and in tubular epithelial cells.

Isoforms (6)

UniProt ID	Names	Canonical?
O95411-1	TIAF1	yes
Q92614-1	1, Alpha, SP-R210L
Q92614-2	2, Beta
Q92614-3	3
Q92614-4	4
Q92614-5	5, SP-R210S

RefSeq proteins (6): NP_001333694, NP_001333695, NP_001333696, NP_001333697, NP_510880, NP_976063 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001478	PDZ	Domain
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR020587	RecA_monomer-monomer_interface	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR036064	MYSc_Myo18	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR057772	SH3_Myo18a	Domain

Pfam: PF00063, PF00595, PF01576, PF24556

UniProt features (74 total): modified residue 39, region of interest 7, compositionally biased region 6, sequence conflict 5, splice variant 5, domain 4, chain 2, mutagenesis site 2, coiled-coil region 1, short sequence motif 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95411-F1	41.43	0.00
AF-Q92614-F1	71.21	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): 498–505

Post-translational modifications (39): 35, 52, 72, 74, 79, 83, 98, 99, 102, 103, 140, 145, 157, 160, 164, 234, 987, 1067, 1068, 1070 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
114–115	no effect on interaction with actin.
117–118	abolishes interaction with actin.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1839117	Signaling by cytosolic FGFR1 fusion mutants
R-HSA-5655302	Signaling by FGFR1 in disease
R-HSA-9703465	Signaling by FLT3 fusion proteins
R-HSA-1226099	Signaling by FGFR in disease
R-HSA-1643685	Disease
R-HSA-1839124	FGFR1 mutant receptor activation
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-9682385	FLT3 signaling in disease

MSigDB gene sets: 290 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, NKX25_02, GOBP_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_MACROPHAGE_ACTIVATION, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, HNF1_Q6, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN

GO Biological Process (13): apoptotic process (GO:0006915), canonical NF-kappaB signal transduction (GO:0007249), negative regulation of apoptotic process (GO:0043066), DNA metabolic process (GO:0006259), Golgi organization (GO:0007030), cell migration (GO:0016477), actomyosin structure organization (GO:0031032), regulation of macrophage activation (GO:0043030), Golgi vesicle budding (GO:0048194), positive regulation of protein secretion (GO:0050714), Golgi ribbon formation (GO:0090161), asymmetric Golgi ribbon formation (GO:0090164), positive regulation of opsonization (GO:1903028)

GO Molecular Function (10): DNA binding (GO:0003677), RNA binding (GO:0003723), ATP binding (GO:0005524), ATP-dependent activity, acting on DNA (GO:0008094), ADP binding (GO:0043531), 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 (16): nucleus (GO:0005634), Golgi membrane (GO:0000139), cytoplasm (GO:0005737), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), trans-Golgi network (GO:0005802), microtubule organizing center (GO:0005815), cell surface (GO:0009986), membrane (GO:0016020), myosin II complex (GO:0016460), myosin filament (GO:0032982), actomyosin (GO:0042641), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), actin cytoskeleton (GO:0015629), myosin complex (GO:0016459), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Diseases of signal transduction by growth factor receptors and second messengers	2
FGFR1 mutant receptor activation	1
Signaling by FGFR in disease	1
FLT3 signaling in disease	1
Signaling by FGFR1 in disease	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
intracellular membrane-bounded organelle	3
nucleic acid binding	2
adenyl ribonucleotide binding	2
cytoplasm	2
myosin complex	2
actin cytoskeleton	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
intracellular signaling cassette	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
nucleic acid metabolic process	1
organelle organization	1
endomembrane system organization	1
cell motility	1
actin cytoskeleton organization	1
regulation of leukocyte activation	1
macrophage activation	1
Golgi membrane	1
vesicle budding from membrane	1
Golgi vesicle transport	1
protein secretion	1
regulation of protein secretion	1
positive regulation of protein transport	1
positive regulation of secretion by cell	1
Golgi organization	1
Golgi ribbon formation	1
establishment of epithelial cell polarity	1
positive regulation of immune effector process	1
opsonization	1
positive regulation of phagocytosis	1
regulation of opsonization	1
purine ribonucleoside triphosphate binding	1
ATP hydrolysis activity	1
catalytic activity, acting on DNA	1
ATP-dependent activity	1
anion binding	1

Protein interactions and networks

STRING

314 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO18A	MYO18B	Q8IUG5	650
MYO18A	HOXA5	P20719	616
MYO18A	TRAPPC6A	O75865	579
MYO18A	WWOX	Q9NZC7	575
MYO18A	SH3GLB2	Q9NR46	448
MYO18A	CDRT15L2	A8MXV6	412
MYO18A	HYAL2	Q12891	403
MYO18A	ATP11B	Q9Y2G3	398
MYO18A	SEZ6L	Q9BYH1	387
MYO18A	NKX2-8	O15522	370
MYO18A	ULBP2	Q9BZM5	360
MYO18A	KNSTRN	Q9Y448	348
MYO18A	TBC1D28	Q2M2D7	348
MYO18A	MAS1L	P35410	343

IntAct

21 interactions, top by confidence:

A	B	Type	Score
MYO18A	HDAC7	psi-mi:“MI:0915”(physical association)	0.560
MYO18A		psi-mi:“MI:0915”(physical association)	0.560
MYO18A	ATXN1	psi-mi:“MI:0915”(physical association)	0.560
MYO18A	APP	psi-mi:“MI:0915”(physical association)	0.540
MYO18A	APP	psi-mi:“MI:0403”(colocalization)	0.540
MYO18A	Smad4	psi-mi:“MI:0915”(physical association)	0.450
Smad4	MYO18A	psi-mi:“MI:2364”(proximity)	0.450
MYO18A	APP	psi-mi:“MI:0914”(association)	0.350
GRB2	MYO1C	psi-mi:“MI:0914”(association)	0.350
MYO18A	MYO18A	psi-mi:“MI:2364”(proximity)	0.270
AGGF1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
HDAC7	MYO18A	psi-mi:“MI:0915”(physical association)	0.000
RIPK3	MYO18A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): TIAF1 (Two-hybrid), TIAF1 (FRET), SMAD4 (FRET), WWOX (Affinity Capture-Western), TIAF1 (Affinity Capture-Western), TP53 (FRET), TIAF1 (Two-hybrid), JAK3 (Affinity Capture-Western), TIAF1 (Two-hybrid), TIAF1 (Affinity Capture-Western), TRIB3 (Affinity Capture-Western), TIAF1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0B4J1N3, A0A1B0GTK4, A0A1B0GTR0, A0JNL8, A2RUT3, A4IFR0, C9JUS6, D3ZKM3, E9PXB6, F2Z3F1, O70899, O71302, O93195, O95411, P03165, P04610, P0C7M3, P12912, P13206, P20976, P20977, P29560, P47939, P47940, P69714, Q02919, Q08648, Q1RN00, Q1WG82, Q5PR19, Q66669, Q67923, Q69027, Q69604, Q6PDA7, Q6UWK7, Q80IU5, Q80IU8, Q8N5N4, Q913A9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	313
Likely benign	24
Benign	17

Top pathogenic / likely-pathogenic (0)

SpliceAI

7904 predictions. Top by Δscore:

Variant	Effect	Δscore
17:29082439:C:CC	acceptor_gain	1.0000
17:29086932:TTA:T	donor_loss	1.0000
17:29086933:TA:T	donor_loss	1.0000
17:29086934:A:AC	donor_gain	1.0000
17:29086935:C:A	donor_loss	1.0000
17:29086935:C:CC	donor_gain	1.0000
17:29086967:T:TA	donor_gain	1.0000
17:29086971:T:A	donor_gain	1.0000
17:29086994:T:TA	donor_gain	1.0000
17:29087117:AGGCT:A	acceptor_gain	1.0000
17:29087118:GGCT:G	acceptor_gain	1.0000
17:29087119:GCT:G	acceptor_gain	1.0000
17:29087120:CT:C	acceptor_gain	1.0000
17:29087120:CTC:C	acceptor_gain	1.0000
17:29087121:TC:T	acceptor_loss	1.0000
17:29087121:TCT:T	acceptor_gain	1.0000
17:29087122:C:CC	acceptor_gain	1.0000
17:29087122:C:G	acceptor_gain	1.0000
17:29087123:T:C	acceptor_loss	1.0000
17:29087126:A:AC	acceptor_gain	1.0000
17:29087126:A:C	acceptor_gain	1.0000
17:29087130:G:C	acceptor_gain	1.0000
17:29087130:G:GC	acceptor_gain	1.0000
17:29087134:G:C	acceptor_gain	1.0000
17:29087134:G:GC	acceptor_gain	1.0000
17:29089956:CCCA:C	donor_loss	1.0000
17:29089957:CCAC:C	donor_loss	1.0000
17:29089958:CA:C	donor_loss	1.0000
17:29089960:C:CA	donor_loss	1.0000
17:29089978:G:A	donor_gain	1.0000

AlphaMissense

13491 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:29086495:A:G	L1932P	1.000
17:29086507:C:G	R1928P	1.000
17:29086525:A:G	L1922P	1.000
17:29098900:A:G	W1236R	1.000
17:29098900:A:T	W1236R	1.000
17:29166114:A:T	L276Q	1.000
17:29166171:G:T	A257D	1.000
17:29166242:G:C	F233L	1.000
17:29166242:G:T	F233L	1.000
17:29166243:A:G	F233S	1.000
17:29166244:A:G	F233L	1.000
17:29166248:A:C	F231L	1.000
17:29166248:A:T	F231L	1.000
17:29166250:A:G	F231L	1.000
17:29086487:C:G	A1935P	0.999
17:29086495:A:T	L1932Q	0.999
17:29086508:G:T	R1928S	0.999
17:29092926:C:G	A1668P	0.999
17:29092934:A:G	L1665P	0.999
17:29094077:A:G	L1575P	0.999
17:29094083:A:G	L1573P	0.999
17:29094657:A:G	L1568P	0.999
17:29094687:A:G	L1558P	0.999
17:29098897:A:G	W1237R	0.999
17:29098897:A:T	W1237R	0.999
17:29098934:G:C	N1224K	0.999
17:29098934:G:T	N1224K	0.999
17:29098956:G:T	A1217D	0.999
17:29107159:A:G	F1121S	0.999
17:29121658:G:C	S420R	0.999

dbSNP variants (sampled 300 via entrez): RS1000034697 (17:29148087 GA>G), RS1000057695 (17:29155024 C>A,T), RS1000106638 (17:29155285 T>C), RS1000129120 (17:29212250 A>C), RS1000142345 (17:29129647 A>AT), RS1000143447 (17:29133037 G>A,T), RS1000176863 (17:29209044 A>T), RS1000186418 (17:29117649 C>T), RS1000190203 (17:29180377 G>A), RS1000209070 (17:29154655 C>T), RS1000246156 (17:29198266 T>C), RS1000255299 (17:29151592 C>A,T), RS1000260029 (17:29079991 G>C,T), RS1000294857 (17:29084006 C>T), RS1000307908 (17:29151134 G>C,T)

Disease associations

OMIM: gene MIM:609517, MIM:610067 | disease phenotypes: MIM:235200

GenCC curated gene-disease

Mondo (3): prostate cancer (MONDO:0008315), hereditary hemochromatosis (MONDO:0006507), hydrops fetalis (MONDO:0015193)

Orphanet (2): Familial prostate cancer (Orphanet:1331), Hydrops fetalis (Orphanet:1041)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001789	Hydrops fetalis

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002843_29	Sitting height ratio	1.000000e-08
GCST003542_68	Night sleep phenotypes	9.000000e-06
GCST005839_44	Depression	9.000000e-09
GCST008803_15	Smoking behaviour (cigarette pack-years)	2.000000e-08
GCST009600_135	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	8.000000e-09
GCST012146_2	Hemoglobin levels	1.000000e-05
GCST012226_396	Waist circumference adjusted for body mass index	5.000000e-09
GCST012227_402	Hip circumference adjusted for BMI	4.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007118	sitting height ratio
EFO:0007827	nighttime rest measurement
EFO:0009115	tobacco smoke exposure measurement
EFO:0004509	hemoglobin measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D006432	Hemochromatosis	C16.320.565.618.337; C18.452.565.500.480; C18.452.648.618.337
D015160	Hydrops Fetalis	C12.050.703.277.060.480; C15.378.295.480; C15.378.420.826.100.350; C16.300.060.480; C16.320.365.826.100.350; C20.306.480; C23.888.277.395
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression, increases methylation	4
bisphenol A	decreases methylation, increases expression	3
Arsenic	affects methylation, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Cisplatin	increases expression, increases reaction, decreases response to substance	2
Aflatoxin B1	increases methylation	2
Genistein	increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
beauvericin	increases expression	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, affects localization	1
sodium arsenite	increases abundance, increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
coumarin	affects phosphorylation	1
pentanal	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression, increases reaction	1
Resveratrol	decreases expression	1
Temozolomide	decreases expression	1
Decitabine	decreases expression, affects reaction	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B5KC	HAP1 MYO18A (-) 2	Cancer cell line	Male
CVCL_B5KD	HAP1 MYO18A (-) 3	Cancer cell line	Male
CVCL_XQ81	HAP1 MYO18A (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer