MYH8

Summary

MYH8 (myosin heavy chain 8, HGNC:7578) is a protein-coding gene on chromosome 17p13.1, encoding Myosin-8 (P13535). Muscle contraction.

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome.

Source: NCBI Gene 4626 — RefSeq curated summary.

At a glance

• Gene–disease (curated): trismus-pseudocamptodactyly syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 382 total — 1 pathogenic
• Phenotypes (HPO): 22
• MANE Select transcript: NM_002472

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7578
Approved symbol	MYH8
Name	myosin heavy chain 8
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	MyHC-peri, MyHC-pn
Ensembl gene	ENSG00000133020
Ensembl biotype	protein_coding
OMIM	160741
Entrez	4626

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000403437

RefSeq mRNA: 1 — MANE Select: NM_002472 NM_002472

CCDS: CCDS11153

Canonical transcript exons

ENST00000403437 — 40 exons

Exon	Start	End
ENSE00000686766	10396553	10396718
ENSE00000686774	10398768	10398886
ENSE00000686780	10400390	10400779
ENSE00000686810	10409097	10409164
ENSE00000686815	10409279	10409588
ENSE00000686846	10415472	10415580
ENSE00000686861	10420018	10420257
ENSE00000855182	10406041	10406177
ENSE00001548728	10390322	10390603
ENSE00001556250	10421930	10421950
ENSE00001563452	10421663	10421706
ENSE00002325019	10406892	10406979
ENSE00002326280	10418887	10419030
ENSE00002327593	10418645	10418801
ENSE00002331749	10399543	10399669
ENSE00002342324	10415292	10415384
ENSE00002352702	10412370	10412519
ENSE00002352769	10406690	10406807
ENSE00002356337	10415116	10415179
ENSE00002360652	10401543	10401785
ENSE00002362755	10396803	10396986
ENSE00002368232	10410777	10410947
ENSE00002372840	10414192	10414295
ENSE00002374972	10414386	10414484
ENSE00002375729	10395133	10395441
ENSE00002379708	10391882	10391977
ENSE00002388244	10396330	10396454
ENSE00002388693	10401046	10401191
ENSE00002389704	10393085	10393210
ENSE00002390932	10392542	10392646
ENSE00002404772	10404330	10404585
ENSE00002407493	10400869	10400959
ENSE00002409386	10413902	10414040
ENSE00002410530	10406274	10406397
ENSE00002410663	10412610	10412728
ENSE00002410805	10401275	10401451
ENSE00002412872	10415681	10415708
ENSE00002415371	10394249	10394452
ENSE00002417481	10392831	10393001
ENSE00002424387	10398444	10398640

Expression profiles

Bgee: expression breadth broad, 67 present calls, max score 86.60.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5705 / max 328.6403, expressed in 42 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164565	0.5203	35
164564	0.0272	4
164566	0.0231	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	86.60	gold quality
quadriceps femoris	UBERON:0001377	86.00	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	84.75	gold quality
triceps brachii	UBERON:0001509	82.09	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.76	gold quality
tibialis anterior	UBERON:0001385	79.72	silver quality
deltoid	UBERON:0001476	78.38	gold quality
skeletal muscle tissue	UBERON:0001134	78.12	gold quality
gluteal muscle	UBERON:0002000	77.92	gold quality
diaphragm	UBERON:0001103	76.45	gold quality
biceps brachii	UBERON:0001507	75.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.84	gold quality
nephron tubule	UBERON:0001231	75.61	gold quality
muscle organ	UBERON:0001630	75.29	gold quality
gastrocnemius	UBERON:0001388	74.07	gold quality
muscle of leg	UBERON:0001383	72.65	gold quality
muscle tissue	UBERON:0002385	72.60	gold quality
kidney epithelium	UBERON:0004819	71.21	gold quality
renal glomerulus	UBERON:0000074	70.35	gold quality
body of tongue	UBERON:0011876	68.24	gold quality
sperm	CL:0000019	68.12	gold quality
metanephric glomerulus	UBERON:0004736	68.06	gold quality
male germ cell	CL:0000015	66.75	gold quality
tongue	UBERON:0001723	65.74	gold quality
tendon of biceps brachii	UBERON:0008188	65.50	gold quality
thymus	UBERON:0002370	65.45	gold quality
oral cavity	UBERON:0000167	64.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	64.63	gold quality
renal medulla	UBERON:0000362	64.36	gold quality
gingival epithelium	UBERON:0001949	64.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting MYH8, 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-5010-3P	99.83	70.60	2357
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-6877-3P	98.98	65.83	560
HSA-MIR-6819-3P	98.95	65.57	572
HSA-MIR-1183	98.75	67.10	1116
HSA-MIR-6781-3P	97.44	66.85	970
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-2682-3P	97.10	66.16	840
HSA-MIR-550B-2-5P	96.56	64.61	646
HSA-MIR-598-3P	89.25	67.61	112

Literature-anchored findings (GeneRIF, showing 9)

• We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene. (PMID:15282353)
• haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees (PMID:17041932)
• findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of trimus-pseudocamptodactyly syndrome (PMID:18049072)
• a family in which two out three sibs affected with trismus pseudocamptodactyly, born from healthy nonconsanguineous parents, were heterozygous for the c.2021G > A mutation due to a possible germline mosaicism in MYH8 (PMID:20949528)
• Loss-of-function variants in the MYH8 gene do not cause autosomal dominant trismus-pseudocamptodactyly syndrome. (PMID:28377322)
• There was an immediate shutdown of the MHC IIX gene after resistance exercise. Silencing of the MHC IIX gene is sustained at least 4 days after removal of the stimulus. (PMID:28508505)
• Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway. (PMID:31430364)
• Novel exomic rare variants associated with venous thrombosis. (PMID:32232851)
• Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis. (PMID:32308057)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Myh8	ENSMUSG00000055775
rattus_norvegicus	Myh8	ENSRNOG00000068010

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), 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), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Myosin-8 — P13535 (reviewed: P13535)

Alternative names: Myosin heavy chain 8, Myosin heavy chain, skeletal muscle, perinatal

All UniProt accessions (1): P13535

UniProt curated annotations — full annotation on UniProt →

Function. Muscle contraction.

Subunit / interactions. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

Subcellular location. Cytoplasm. Myofibril.

Disease relevance. Carney complex variant (CACOV) [MIM:608837] Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. The disease is caused by variants affecting the gene represented in this entry. Arthrogryposis, distal, 7 (DA7) [MIM:158300] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

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

RefSeq proteins (1): NP_002463* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR008989	Myosin_S1_N	Homologous_superfamily
IPR014751	XRCC4-like_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF01576, PF02736

UniProt features (62 total): modified residue 35, sequence conflict 10, sequence variant 7, domain 3, region of interest 3, chain 1, coiled-coil region 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13535-F1	75.13	0.09

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): 181–188

Post-translational modifications (35): 66, 71, 132, 389, 392, 419, 424, 625, 756, 1091, 1095, 1161, 1236, 1242, 1260, 1264, 1285, 1291, 1302, 1305 …

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 179 (showing top): HUMMERICH_BENIGN_SKIN_TUMOR_DN, HUMMERICH_MALIGNANT_SKIN_TUMOR_DN, KEGG_TIGHT_JUNCTION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, GOBP_SKELETAL_MUSCLE_CONTRACTION, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, KEGG_VIRAL_MYOCARDITIS, GOBP_MUSCLE_CONTRACTION, TGCTGAY_UNKNOWN, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY

GO Biological Process (4): skeletal muscle contraction (GO:0003009), muscle contraction (GO:0006936), muscle filament sliding (GO:0030049), ATP metabolic process (GO:0046034)

GO Molecular Function (11): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), structural constituent of muscle (GO:0008307), ATP hydrolysis activity (GO:0016887), myosin phosphatase activity (GO:0017018), myosin light chain binding (GO:0032027), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin II complex (GO:0016460), sarcomere (GO:0030017), myosin filament (GO:0032982), myosin complex (GO:0016459), myofibril (GO:0030016)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ATP-dependent activity	2
contractile muscle fiber	2
myosin complex	2
striated muscle contraction	1
musculoskeletal movement	1
muscle system process	1
muscle contraction	1
actin-myosin filament sliding	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
structural molecule activity	1
ribonucleoside triphosphate phosphatase activity	1
protein serine/threonine phosphatase activity	1
myosin 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
intracellular anatomical structure	1
cytoplasm	1
myosin II complex	1
myofibril	1
supramolecular fiber	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

1618 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYH8	PRKAR1A	P10644	807
MYH8	MUTYH	Q9UIF7	757
MYH8	TNNI2	P48788	616
MYH8	TNNT3	P45378	604
MYH8	MYOG	P15173	603
MYH8	MYMK	A6NI61	575
MYH8	MYL1	P05976	570
MYH8	MYOD1	P15172	557
MYH8	MSTN	O14793	553
MYH8	TPM2	P06468	545
MYH8	TNNC2	P02585	542
MYH8	MYF5	P13349	528
MYH8	MYBPC1	Q00872	528
MYH8	ADPRM	Q3LIE5	507
MYH8	ACTA1	P02568	506

IntAct

47 interactions, top by confidence:

A	B	Type	Score
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
PRKAG2	PRKAB2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
MYH13	C1orf226	psi-mi:“MI:0914”(association)	0.350
H4C16		psi-mi:“MI:0914”(association)	0.350
TLE3	ATP2A1	psi-mi:“MI:0914”(association)	0.350
ROGDI		psi-mi:“MI:0914”(association)	0.350
AURKC	USP19	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
CFTR	MYH7B	psi-mi:“MI:0914”(association)	0.350
ABTB2	IFT56	psi-mi:“MI:0914”(association)	0.350
SLC39A3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYH4	PALM3	psi-mi:“MI:0914”(association)	0.350
KRT40	ANKRD36	psi-mi:“MI:0914”(association)	0.350
AURKC	AURKA	psi-mi:“MI:0914”(association)	0.350
MECOM	ATP2A1	psi-mi:“MI:0914”(association)	0.350
ROGDI	ATP2A1	psi-mi:“MI:0914”(association)	0.350
RSPH6A	ATP2A1	psi-mi:“MI:0914”(association)	0.350
CFAP141	WDR46	psi-mi:“MI:0914”(association)	0.350
DNAJC12	CYB5R3	psi-mi:“MI:0914”(association)	0.350
TLE3	COL1A1	psi-mi:“MI:0914”(association)	0.350
LZTR1	CKM	psi-mi:“MI:0914”(association)	0.350

BioGRID (54): MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), ACTN2 (Co-fractionation), TPM1 (Co-fractionation), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH8 (Synthetic Lethality), MYH8 (Two-hybrid), MYH8 (Negative Genetic)

ESM2 similar proteins: A2AQP0, A7E2Y1, E7F9L8, F1PRN2, F1PT61, F4IUG9, O94832, P02563, P02564, P02565, P02566, P02567, P05659, P05661, P08799, P11055, P12844, P12845, P12847, P12883, P13533, P13535, P13539, P13540, P13541, P24733, P49824, P79293, Q02566, Q076A3, Q076A4, Q076A5, Q17R14, Q23979, Q29RW1, Q5SX39, Q5SX40, Q5SYD0, Q60LV4, Q63357

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 57 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.

GO biological processes:

GO term	Partners	Fold	FDR
muscle contraction	5	20.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	268
Likely benign	42
Benign	40

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
14136	NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)	Pathogenic

SpliceAI

3576 predictions. Top by Δscore:

Variant	Effect	Δscore
17:10390601:CTC:C	acceptor_gain	1.0000
17:10390603:CCTAA:C	acceptor_loss	1.0000
17:10391873:GATAC:G	donor_loss	1.0000
17:10391876:ACTT:A	donor_loss	1.0000
17:10391877:CTTA:C	donor_loss	1.0000
17:10391878:TTACA:T	donor_loss	1.0000
17:10391879:TA:T	donor_loss	1.0000
17:10391880:A:AC	donor_gain	1.0000
17:10391880:AC:A	donor_loss	1.0000
17:10391880:ACAG:A	donor_gain	1.0000
17:10391880:ACAGC:A	donor_gain	1.0000
17:10391881:C:CT	donor_gain	1.0000
17:10391881:CA:C	donor_gain	1.0000
17:10391881:CAG:C	donor_gain	1.0000
17:10391881:CAGC:C	donor_gain	1.0000
17:10391881:CAGCC:C	donor_gain	1.0000
17:10391974:CAGT:C	acceptor_gain	1.0000
17:10391975:AGTC:A	acceptor_loss	1.0000
17:10391976:GT:G	acceptor_gain	1.0000
17:10391976:GTCT:G	acceptor_loss	1.0000
17:10391977:TCTG:T	acceptor_loss	1.0000
17:10391978:C:CC	acceptor_gain	1.0000
17:10391978:C:CG	acceptor_loss	1.0000
17:10391979:T:A	acceptor_loss	1.0000
17:10391986:T:C	acceptor_gain	1.0000
17:10391986:T:TC	acceptor_gain	1.0000
17:10392536:CTTTA:C	donor_loss	1.0000
17:10392537:TTTAC:T	donor_loss	1.0000
17:10392538:TTACC:T	donor_loss	1.0000
17:10392539:TA:T	donor_loss	1.0000

AlphaMissense

12910 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:10406176:A:T	V766D	1.000
17:10406284:C:T	G762E	1.000
17:10406744:C:G	R706P	1.000
17:10406751:C:G	G704R	1.000
17:10406762:C:A	G700V	1.000
17:10406762:C:T	G700D	1.000
17:10406763:C:G	G700R	1.000
17:10406764:A:C	N699K	1.000
17:10406764:A:T	N699K	1.000
17:10406774:A:G	L696P	1.000
17:10406920:A:C	C675W	1.000
17:10406929:G:C	F672L	1.000
17:10406929:G:T	F672L	1.000
17:10406931:A:G	F672L	1.000
17:10406951:A:G	L665P	1.000
17:10409390:A:G	W596R	1.000
17:10409390:A:T	W596R	1.000
17:10409419:G:T	A586D	1.000
17:10410816:A:C	F516L	1.000
17:10410816:A:T	F516L	1.000
17:10410818:A:G	F516L	1.000
17:10410831:C:A	W511C	1.000
17:10410831:C:G	W511C	1.000
17:10410833:A:G	W511R	1.000
17:10410833:A:T	W511R	1.000
17:10410873:A:C	F497L	1.000
17:10410873:A:T	F497L	1.000
17:10410874:A:G	F497S	1.000
17:10410875:A:G	F497L	1.000
17:10410888:G:C	F492L	1.000

dbSNP variants (sampled 300 via entrez): RS1000297836 (17:10405089 T>C), RS1000312529 (17:10391044 T>C), RS1000480269 (17:10398172 G>A), RS1000526531 (17:10411781 G>T), RS1000540731 (17:10407872 T>C), RS1000571734 (17:10407636 C>G,T), RS1000577672 (17:10400393 G>T), RS1000635142 (17:10407073 A>G), RS1000650489 (17:10392463 A>G,T), RS1000679904 (17:10392127 T>A,C), RS1000785112 (17:10399763 T>C), RS1000945655 (17:10421742 G>A), RS1000976646 (17:10421267 C>A), RS1001171526 (17:10413847 A>G), RS1001748656 (17:10399856 G>A)

Disease associations

OMIM: gene MIM:160741 | disease phenotypes: MIM:158300, MIM:608837, MIM:108120

GenCC curated gene-disease

Disease	Classification	Inheritance
trismus-pseudocamptodactyly syndrome	Strong	Autosomal dominant
Carney complex - trismus - pseudocamptodactyly syndrome	Refuted Evidence	Autosomal dominant

Mondo (7): trismus-pseudocamptodactyly syndrome (MONDO:0008016), Carney complex - trismus - pseudocamptodactyly syndrome (MONDO:0012137), prostate cancer (MONDO:0008315), dilated cardiomyopathy (MONDO:0005021), hereditary skeletal muscle disorder (MONDO:0700223), neuromuscular disease (MONDO:0019056), arthrogryposis, distal, type 1A (MONDO:0007157)

Orphanet (6): Trismus-pseudocamptodactyly syndrome (Orphanet:3377), Carney complex-trismus-pseudocamptodactyly syndrome (Orphanet:319340), Familial prostate cancer (Orphanet:1331), Dilated cardiomyopathy (Orphanet:217604), Neuromuscular disease (Orphanet:68381), Distal arthrogryposis type 1 (Orphanet:1146)

HPO phenotypes

22 total (23 of 22 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000211	Trismus
HP:0000256	Macrocephaly
HP:0000303	Mandibular prognathia
HP:0000324	Facial asymmetry
HP:0000347	Micrognathia
HP:0000508	Ptosis
HP:0001376	Limitation of joint mobility
HP:0001762	Talipes equinovarus
HP:0001765	Hammertoe
HP:0001840	Metatarsus adductus
HP:0002002	Deep philtrum
HP:0002015	Dysphagia
HP:0002804	Arthrogryposis multiplex congenita
HP:0002827	Hip dislocation
HP:0003011	Abnormality of the musculature
HP:0004322	Short stature
HP:0005684	Distal arthrogryposis
HP:0010621	Cutaneous syndactyly of toes
HP:0011672	Cardiac myxoma
HP:0011968	Feeding difficulties
HP:0400000	Tall chin
HP:0001644	Dilated cardiomyopathy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009936_6	Venous thromboembolism	9.000000e-06

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D009468	Neuromuscular Diseases	C10.668
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
C535857	Hecht syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aflatoxin B2	increases methylation	1
CGP 52608	increases reaction, affects binding	1
monomethylarsonous acid	increases expression	1
incobotulinumtoxinA	decreases expression	1
Acetaminophen	decreases expression	1
Valproic Acid	decreases methylation	1

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