Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51778
Gene name	Myozenin 2
Gene symbol	MYOZ2
Synonyms (NCBI Gene)	C4orf5CMH16CS-1FATZ-2
Chromosome	4
Chromosome location	4q26
Summary	The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140126678	A>G	Pathogenic, benign, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs143345726	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT664193	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT664192	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT664190	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT664191	hsa-miR-575	HITS-CLIP	23824327
MIRT664185	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664189	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT664188	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT664187	hsa-miR-621	HITS-CLIP	23824327
MIRT664186	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664185	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664184	hsa-miR-5096	HITS-CLIP	23824327
MIRT664183	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664182	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT664181	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT664180	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664179	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT664178	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT664177	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT664176	hsa-miR-7641	HITS-CLIP	23824327
MIRT664193	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT664192	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT664190	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT664191	hsa-miR-575	HITS-CLIP	23824327
MIRT664185	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664189	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT664188	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT664187	hsa-miR-621	HITS-CLIP	23824327
MIRT664186	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664185	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664184	hsa-miR-5096	HITS-CLIP	23824327
MIRT664183	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664182	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT664181	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT664180	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664179	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT664178	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT664177	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT664176	hsa-miR-7641	HITS-CLIP	23824327
MIRT1170338	hsa-miR-1197	CLIP-seq
MIRT1170339	hsa-miR-142-5p	CLIP-seq
MIRT1170340	hsa-miR-203	CLIP-seq
MIRT1170341	hsa-miR-2054	CLIP-seq
MIRT1170342	hsa-miR-22	CLIP-seq
MIRT1170343	hsa-miR-302f	CLIP-seq
MIRT1170344	hsa-miR-3200-5p	CLIP-seq
MIRT1170345	hsa-miR-320a	CLIP-seq
MIRT1170346	hsa-miR-320b	CLIP-seq
MIRT1170347	hsa-miR-320c	CLIP-seq
MIRT1170348	hsa-miR-320d	CLIP-seq
MIRT1170349	hsa-miR-329	CLIP-seq
MIRT1170350	hsa-miR-362-3p	CLIP-seq
MIRT1170351	hsa-miR-3658	CLIP-seq
MIRT1170352	hsa-miR-3671	CLIP-seq
MIRT1170353	hsa-miR-3941	CLIP-seq
MIRT1170354	hsa-miR-410	CLIP-seq
MIRT1170355	hsa-miR-4251	CLIP-seq
MIRT1170356	hsa-miR-4329	CLIP-seq
MIRT1170357	hsa-miR-4429	CLIP-seq
MIRT1170358	hsa-miR-4662a-3p	CLIP-seq
MIRT1170359	hsa-miR-4789-3p	CLIP-seq
MIRT1170360	hsa-miR-4803	CLIP-seq
MIRT1170361	hsa-miR-548ae	CLIP-seq
MIRT1170362	hsa-miR-548aj	CLIP-seq
MIRT1170363	hsa-miR-548am	CLIP-seq
MIRT1170364	hsa-miR-548x	CLIP-seq
MIRT1170365	hsa-miR-561	CLIP-seq
MIRT1170366	hsa-miR-603	CLIP-seq
MIRT1170367	hsa-miR-607	CLIP-seq
MIRT1170368	hsa-miR-891b	CLIP-seq
MIRT2049081	hsa-miR-339-5p	CLIP-seq
MIRT2049082	hsa-miR-3675-3p	CLIP-seq
MIRT2049083	hsa-miR-4287	CLIP-seq
MIRT2049084	hsa-miR-4469	CLIP-seq
MIRT2049085	hsa-miR-4685-3p	CLIP-seq
MIRT2049086	hsa-miR-4742-3p	CLIP-seq
MIRT1170368	hsa-miR-891b	CLIP-seq
MIRT2431460	hsa-miR-3126-3p	CLIP-seq
MIRT2431461	hsa-miR-450b-5p	CLIP-seq
MIRT2431462	hsa-miR-4539	CLIP-seq
MIRT2431463	hsa-miR-507	CLIP-seq
MIRT2431464	hsa-miR-557	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	10427098, 11114196, 11842093, 15582318, 16076904, 16189514, 19447967, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0030017	Component	Sarcomere	TAS	11114196
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030018	Component	Z disc	NAS	15582318
GO:0030346	Function	Protein phosphatase 2B binding	NAS	11114196
GO:0031433	Function	Telethonin binding	IBA
GO:0031433	Function	Telethonin binding	IPI	15582318
GO:0043503	Process	Skeletal muscle fiber adaptation	IEA
GO:0043503	Process	Skeletal muscle fiber adaptation	ISS
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	ISS
GO:0051373	Function	FATZ binding	IBA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IEA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	ISS

MIM	HGNC	e!Ensembl
605602	1330	ENSG00000172399

Q9NPC6

Protein name

Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)

Protein function

Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05556	Calsarcin	1 → 264	Calcineurin-binding protein (Calsarcin)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in heart and skeletal muscle. {ECO:0000269|PubMed:11114196, ECO:0000269|PubMed:11161785}.

Sequence

MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKM
RQRRSDKYTFENFQYQSRAQINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNP
DNIAPGYSGPLKEIPPEKFNTTAVPKYYQSPWEQAISNDPELLEALYPKLFKPEGKAELP
DYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPRFMSFVNPLSGRRSFNRTPKGWI
SENIPIVITTEPTDDTTVPESEDL

Sequence length

264

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypertrophic cardiomyopathy 16	Likely pathogenic	rs199476398	RCV000023465	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOZ2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	17347475, 28296734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28886070		★★★★★ ★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16	Cardiomyopathy	UNIPROT_DG	17347475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16	Cardiomyopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15582318, 28886070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	18591919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor	Tumor	BEFREE	29514158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	11114196, 17347475, 18591919, 22987565		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15582318, 17347475, 22987565, 28296734		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17347475		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17347475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30280773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30280773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10606891, 24162108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30280773		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27322696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	BEFREE	29514158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36414950	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30280773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30280773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	28320414, 29514158		★★★★★ ★☆☆☆☆ Found in Text Mining only

MYOZ2 (myozenin 2)