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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51778
Gene name Gene Name - the full gene name approved by the HGNC.	Myozenin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYOZ2
Synonyms (NCBI Gene) Gene synonyms aliases	C4orf5, CMH16, CS-1, FATZ-2
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q26
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 16	rs199476398	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Restrictive cardiomyopathy	restrictive cardiomyopathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cardiomyopathy Hypertrophic	Associate	17347475, 28296734
COVID 19	Inhibit	36414950
Death Sudden Cardiac	Associate	28296734
Inflammation	Stimulate	22203690
Lymphatic Metastasis	Associate	30280773
Multiple Myeloma	Associate	10606891, 24162108
Periodontitis	Inhibit	36414950
Stomach Neoplasms	Associate	30280773

MYOZ2 (myozenin 2)