MYH16

Summary

MYH16 (myosin heavy chain 16, HGNC:31038) is a protein-coding gene on chromosome 7q22.1, encoding Putative uncharacterized protein MYH16 (Q9H6N6). Has most probably lost the function in masticatory muscles contraction suspected for its homologs in dog (AC F1PT61) and apes.

The protein coding status of the MYH16 gene is uncertain. In nonhuman primates, this gene encodes a sarcomeric myosin heavy chain expressed in masticatory muscles, but has been hypothesized to be inactivated in humans. Stedman et al. (2004) [PubMed 15042088] suggest that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man. However, there is peptide support suggesting that a shorter protein containing only a myosin tail domain is expressed in human.

Source: NCBI Gene 84176 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• MANE Select transcript: NM_001431356

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31038
Approved symbol	MYH16
Name	myosin heavy chain 16
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MHC20, MYH16P
Ensembl gene	ENSG00000293560
Ensembl biotype	protein_coding
OMIM	608580
Entrez	84176

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 1 retained_intron, 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000429079, ENST00000716970, ENST00000760551

RefSeq mRNA: 1 — MANE Select: NM_001431356 NM_001431356

Canonical transcript exons

ENST00000716970 — 24 exons

Exon	Start	End
ENSE00004031273	99289287	99289404
ENSE00004031274	99294018	99294150
ENSE00004031275	99303065	99303190
ENSE00004031276	99283873	99284018
ENSE00004031277	99283565	99283651
ENSE00004031278	99272839	99273077
ENSE00004031279	99296701	99296917
ENSE00004031280	99297892	99297995
ENSE00004031281	99306609	99306836
ENSE00004031282	99291323	99291450
ENSE00004031283	99284845	99284935
ENSE00004031284	99277539	99277712
ENSE00004031285	99285382	99285438
ENSE00004031287	99301601	99301804
ENSE00004031288	99304586	99304756
ENSE00004031289	99297660	99297796
ENSE00004031290	99279510	99279737
ENSE00004031291	99305836	99306036
ENSE00004031292	99280876	99280980
ENSE00004031293	99299466	99299658
ENSE00004031294	99292312	99292508
ENSE00004031295	99273342	99273423
ENSE00004031296	99287892	99288137
ENSE00004282774	99310739	99311124

Expression profiles

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3881 / max 293.5895, expressed in 56 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79849	0.1116	23
79850	0.0849	19
79854	0.0598	4
79851	0.0571	12
79853	0.0374	4
79848	0.0230	5
79852	0.0091	2
79855	0.0052	2

Top tissues by expression

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NKX2-5

Literature-anchored findings (GeneRIF, showing 2)

• first proteomic distinction between humans and chimpanzees that can be correlated with a traceable anatomic imprint in the fossil record (PMID:15042088)
• MYH16 upregulation is associated with lung adenocarcinoma aggressiveness and immune infiltration. (PMID:37589445)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000076357

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

Putative uncharacterized protein MYH16 — Q9H6N6 (reviewed: Q9H6N6)

Alternative names: Myosin heavy chain 16 pseudogene, myosin heavy polypeptide 5

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Has most probably lost the function in masticatory muscles contraction suspected for its homologs in dog (AC F1PT61) and apes.

Tissue specificity. Specifically expressed in muscles of the head including temporalis and tensor veli palatini.

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

RefSeq proteins (1): NP_001418285* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002928	Myosin_tail	Domain
IPR014751	XRCC4-like_C	Homologous_superfamily

Pfam: PF01576

UniProt features (3 total): chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6N6-F1	75.36	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): SENESE_HDAC1_TARGETS_UP, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, BLANCO_MELO_RESPIRATORY_SYNCYTIAL_VIRUS_INFECTION_A594_CELLS_UP, chr7q22, SENESE_HDAC2_TARGETS_UP, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_72H_ACT_CD4_TCELL_DN, GSE26928_CENTR_MEMORY_VS_CXCR5_POS_CD4_TCELL_UP, GOCC_ACTIN_CYTOSKELETON, GOCC_MYOSIN_COMPLEX, GSE9960_HEALTHY_VS_SEPSIS_PBMC_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): myosin complex (GO:0016459)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

2 interactions, top by confidence:

A	B	Type	Score
MYH16	HDLBP	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A1KYZ2, A4URH3, A7UMC0, M1H607, O02389, O18416, O44119, O61379, O96064, O97162, P06198, P08928, P10567, P13392, P35415, P35416, P35417, P35418, P39922, P42636, P43689, P86704, P91958, Q01202, Q02171, Q03427, Q05000, Q05870, Q23939, Q25145, Q25456, Q25457, Q3BJY7, Q3Y8M6, Q86RN8, Q8IT89, Q8MUF6, Q8T305, Q8WR63, Q967Z0

Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I460, F4I507, F4I5Q6, F4IRU3, F4IVR7, F4JM19, F4K5J1, G3UW82, O08638, O14157, 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, P21271, P24733

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000000945 (7:99237677 G>A,C), RS1000064394 (7:99280210 T>A), RS1000073102 (7:99259485 T>C), RS1000075314 (7:99266643 C>A,G), RS1000119389 (7:99273267 C>A), RS1000124025 (7:99269069 G>A), RS1000140288 (7:99267885 G>C,T), RS1000255920 (7:99273391 C>T), RS1000264964 (7:99303553 C>T), RS1000305937 (7:99287244 A>G), RS1000480329 (7:99279144 T>C), RS1000493301 (7:99293653 C>T), RS1000521050 (7:99271597 T>A), RS1000529682 (7:99267050 T>G), RS1000537753 (7:99299846 G>A)

Disease associations

OMIM: gene MIM:608580 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002882_3	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	6.000000e-12
GCST004730_2	Facial emotion recognition (sad faces)	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007007	ticagrelor measurement
EFO:0008329	facial emotion recognition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, decreases expression	1
chlorophyllin	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
nutlin 3	increases expression, affects cotreatment	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dactinomycin	affects cotreatment, increases expression	1
Folic Acid	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Methotrexate	affects cotreatment, increases expression	1
Rifampin	decreases expression	1

Clinical trials (associated diseases)

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