MYO16 (myosin XVI)

Gene

• Entrez ID: 23026
• Gene name: Myosin XVI
• Gene symbol: MYO16
• Synonyms (NCBI Gene): MYAP3, MYR8, Myo16b, NYAP3, PPP1R107
• Chromosome: 13
• Chromosome location: 13q33.3
• Summary: This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs774060871	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT693550	hsa-miR-3133	HITS-CLIP	23313552
MIRT693549	hsa-miR-548b-3p	HITS-CLIP	23313552
MIRT615711	hsa-miR-8485	HITS-CLIP	23313552
MIRT615710	hsa-miR-602	HITS-CLIP	23313552
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	27418678
MIRT615711	hsa-miR-8485	HITS-CLIP	27418678
MIRT615711	hsa-miR-8485	HITS-CLIP	27418678
MIRT615711	hsa-miR-8485	HITS-CLIP	27418678
MIRT693550	hsa-miR-3133	HITS-CLIP	23313552
MIRT693549	hsa-miR-548b-3p	HITS-CLIP	23313552
MIRT615711	hsa-miR-8485	HITS-CLIP	23313552
MIRT615710	hsa-miR-602	HITS-CLIP	23313552
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT615711	hsa-miR-8485	HITS-CLIP	23824327
MIRT615710	hsa-miR-602	HITS-CLIP	23824327
MIRT615709	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT1169211	hsa-miR-1245b-5p	CLIP-seq
MIRT1169212	hsa-miR-29a	CLIP-seq
MIRT1169213	hsa-miR-29b	CLIP-seq
MIRT1169214	hsa-miR-29c	CLIP-seq
MIRT1169215	hsa-miR-3126-5p	CLIP-seq
MIRT1169216	hsa-miR-3142	CLIP-seq
MIRT1169217	hsa-miR-3185	CLIP-seq
MIRT1169218	hsa-miR-3922-5p	CLIP-seq
MIRT1169219	hsa-miR-4419a	CLIP-seq
MIRT1169220	hsa-miR-4510	CLIP-seq
MIRT1169221	hsa-miR-4709-3p	CLIP-seq
MIRT1169222	hsa-miR-4742-3p	CLIP-seq
MIRT1169223	hsa-miR-4797-5p	CLIP-seq
MIRT2277623	hsa-miR-1271	CLIP-seq
MIRT2277624	hsa-miR-1305	CLIP-seq
MIRT2277625	hsa-miR-4496	CLIP-seq
MIRT2277626	hsa-miR-4773	CLIP-seq
MIRT2277627	hsa-miR-607	CLIP-seq
MIRT2277628	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	25902260
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA	17029291
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	11588169
GO:0005886	Component	Plasma membrane	ISS	11588169, 17029291
GO:0008285	Process	Negative regulation of cell population proliferation	ISS	17029291
GO:0016459	Component	Myosin complex	IBA
GO:0016459	Component	Myosin complex	IEA
GO:0019903	Function	Protein phosphatase binding	IBA
GO:0021549	Process	Cerebellum development	ISS	11588169
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17029291
GO:0048812	Process	Neuron projection morphogenesis	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	ISS	11588169
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IBA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	ISS	17029291

Other IDs

• MIM: 615479
• HGNC: 29822
• e!Ensembl: ENSG00000041515

Protein

• UniProt ID: Q9Y6X6
• Protein name: Unconventional myosin-XVI (Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3) (Unconventional myosin-16)
• Protein function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	64 → 156	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	200 → 285	Ankyrin repeats (3 copies)	Repeat
  PF00063	Myosin_head	403 → 1133	Myosin head (motor domain)	Domain
  PF15439	NYAP_N	1221 → 1589	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter	Family

• Sequence:

  MEIDQCLLESLPLGQRQRLVKRMRCEQIKAYYEREKAFQKQEGFLKRLKHAKNPKVHFNL
  TDMLQDAIIHHNDKEVLRLLKEGADPHTLVSSGGSLLHLCARYDNAFIAEILIDRGVNVN
  HQDEDFWTPMHIACACDNPDIVLLLVLAGANVLLQDVNGNIPLDYAVEGTESSSILLTYL
  DENGVDLTSLRQMKLQRPMSMLTDVKHFLSSGGNVNEKNDEGVTLLHMACASGYKEVVSL
  ILEHGGDLNIVDDQYWTPLHLAAKYGQTNLVKLLLMHQANPHLVNCNEEKASDIAASEFI
  EEMLLKAEIAWEEKMKEPLSASTLAQEEPYEEIIHDLPVLSSKLSPLVLPIAKQDSLLEK
  DIMFKDATKGLCKQQSQDSIPENPMMSGSTKPEQVKLMPPAPNDDLATLSELNDGSLLYE
  IQKRFGNNQIYTFIGDILLLVNPYKELPIYSSMVSQLYFSSSGKLCSSLPPHLFSCVERA
  FHQLFREQRPQCFILSGERGSGKSEASKQIIRHLTCRAGASRATLDSRFKHVVCILEAFG
  HAKTTLNDLSSCFIKYFELQFCERKQQLTGARIYTYLLEKSRLVSQPLGQSNFLIFYLLM
  DGLSAEEKYGLHLNNLCAHRYLNQTIQDDASTGERSLNREKLAVLKRALNVVGFSSLEVE
  NLFVILAAILHLGDIRFTALNEGNSAFVSDLQLLEQVAGMLQVSTDELASALTTDIQYFK
  GDMIIRRHTIQIAEFFRDLLAKSLYSRLFSFLVNTMNSCLHSQDEQKSMQTLDIGILDIF
  GFEEFQKNEFEQLCVNMTNEKMHHYINEVLFLHEQVECVQEGVTMETAYSPGNQNGVLDF
  FFQKPSGFLTLLDEESQMIWSVESNFPKKLQSLLESSNTNAVYSPMKDGNGNVALKDHGT
  AFTIMHYAGRVMYDVVGAIEKNKDSLSQNLLFVMKTSENVVINHLFQSKLSQTGSLVSAY
  PSFKFRGHKSALLSKKMTASSIIGENKNYLELSKLLKKKGTSTFLQRLERGDPVTIASQL
  RKSLMDIIGKLQKCTPHFIHCIRPNNSKLPDTFDNFYVSAQLQYIGVLEMVKIFRYGYPV
  RLSFSDFLSRYKPLADTFLREKKEQSAAERCRLVLQQCKLQGWQMGVRKVFLKYWHADQL
  NDLCLQLQRKIITCQKVIRGFLARQHLLQRISIRQQEVTSINSFLQNTEDMGLKTYDALV
  IQNASDIARENDRLRSEMNAPYHKEKLEVRNMQEEGSKRTDDKSGPRHFHPSSMSVCAAV
  DGLGQCLVGPSIWSPSLHSVFSMDDSSSLPSPRKQPPPKPKRDPNTRLSASYEAVSACLS
  AAREAANEALARPRPHSDDYSTMKKIPPRKPKRSPNTKLSGSYEEISGSRPGDARPAGAP
  GAAARVLTPGTPQCALPPAAPPGDEDDSEPVYIEMLGHAARPDSPDPGESVYEEMKCCLP
  DDGGPGAGSFLLHGASPPLLHRAPEDEAAGPPGDACDIPPPFPNLLPHRPPLLVFPPTPV
  TCSPASDESPLTPLEVKKLPVLETNLKYPVQPEGSSPLSPQYSKSQKGDGDRPASPGLAL
  FNGSGRASPPSTPPPPPPPPGPPPAPYRPCAHLAFPPEPAPVNAGKAGPSAEAPKVHPKP
  NSAPVAGPCSSFPKIPYSPVKATRADARKAGSSASPPAPYSPPSSRPLSSPLDELASLFN
  SGRSVLRKSAAGRKIREAEGFETNMNISSRDDPSTSEITSETQDRNANNHGIQLSNSLSS
  AITAENGNSISNGLPEEDGYSRLSISGTGTSTFQRHRDSHTTQVIHQLRLSENESVALQE
  LLDWRRKLCEEGQDWQQILHHAEPRVPPPPPCKKPSLLKKPEGASCNRLPSELWDTTI

• Sequence length: 1858

Pathways

KEGG:

Motor proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
MYO16-associated developmental delay	Likely pathogenic	rs774060871	RCV000767344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYO16-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37333771	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	23535033		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	23535033, 26830138, 30636644		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24132906		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	27450446	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21412220		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21412220		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34324492	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25902260		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21412220		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25646961	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25646961		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25902260		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34889895	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24141571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24141571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24141571	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30170380	Associate	★☆☆☆☆ Found in Text Mining only