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

345

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypertrophic cardiomyopathy 16	Likely pathogenic	rs199476398	RCV000023465

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs763449906, rs372215131, rs138061447, rs149125238, rs192725921, rs374655743, rs17851524, rs148908208, rs397517288, rs397517289, rs76757102, rs117556704, rs143345726, rs17049982, rs774333721 View all (5 more)	RCV001799346 RCV001170138 RCV001798610 RCV001170134 RCV000770197 RCV003448909 RCV000770198 RCV001170133 RCV000769183 RCV001170131 RCV000852985 RCV000770196 RCV000770200 RCV001798126 RCV000770202 RCV000770199 RCV000770203 RCV000770201 RCV001170135 RCV001170136 RCV001170137
Cardiovascular phenotype	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs746027670, rs527258961, rs2149221474, rs752275226, rs144720577, rs781466292, rs775850657, rs376901669, rs1741621672, rs745351307, rs1408647865, rs368392953, rs1215550950, rs200077093, rs1051191303 View all (93 more)	RCV002419022 RCV003163899 RCV003303461 RCV004043966 RCV003166966 RCV006367649 RCV004042336 RCV002344048 RCV006367789 RCV004044299 RCV004043398 RCV003382757 RCV005375028 RCV002331773 RCV004641930 RCV004651932 RCV002416418 RCV002409608 RCV002391192 RCV002362814 RCV002399529 RCV005372243 RCV002355435 RCV002364059 RCV002366256 RCV002445816 RCV002452347 RCV002338429 RCV002346856 RCV002369189 RCV002359862 RCV002375783 RCV002391491 RCV002416671 RCV002367439 RCV002380405 RCV002400475 RCV002376039 RCV002383455 RCV002380764 RCV002432887 RCV002459551 RCV002428053 RCV002420129 RCV002437083 RCV002423797 RCV002424206 RCV002455767 RCV002431354 RCV004642115 RCV003294505 RCV002433748 RCV004649082 RCV002372076 RCV002408871 RCV002336531 RCV002453734 RCV004141812 RCV000618421 RCV002453763 RCV002444854 RCV002321842 RCV002336596 RCV003298306 RCV003187109 RCV003187110 RCV003187111 RCV003187112 RCV003187113 RCV004280158 RCV003310687 RCV003382069 RCV003382070 RCV003382071 RCV003382072 RCV004985420 RCV005387203 RCV004987414 RCV005687267 RCV004522079 RCV004522080 RCV004522081 RCV004522082 RCV004522083 RCV000617328 RCV002451145 RCV004023091 RCV000247372 RCV000243425 RCV002376887 RCV002395187 RCV002438280 RCV004984950 RCV003159720 RCV000620911 RCV003380628 RCV000619742 RCV002325154 RCV000620670 RCV000619125 RCV004025345 RCV000619179 RCV002408523 RCV000242166 RCV000621201 RCV000247375 RCV000246679 RCV000250478 RCV002444490 RCV003303240 RCV003380769 RCV002337096 RCV002355131 RCV004986974
Gastric cancer	-	rs147558994	RCV005948011
Hypertrophic cardiomyopathy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs746027670, rs1742290113, rs2149230757, rs1578729988, rs527258961, rs1035375546, rs2149221474, rs752275226, rs775592981, rs761283496, rs1741433554, rs144720577, rs1742288958, rs781466292, rs2149221447 View all (114 more)	RCV001345814 RCV001338801 RCV001364810 RCV001439168 RCV002540667 RCV001867489 RCV001965320 RCV002004920 RCV001984331 RCV001945271 RCV001936805 RCV001898131 RCV002005042 RCV001923589 RCV001926190 RCV002018677 RCV002055694 RCV002055695 RCV001916955 RCV001922923 RCV001957968 RCV001929217 RCV001925990 RCV001901450 RCV002005876 RCV002029349 RCV001963624 RCV002038490 RCV002079285 RCV002133823 RCV002076112 RCV002085679 RCV002133156 RCV002168243 RCV002183405 RCV002100848 RCV002100926 RCV002115099 RCV002200813 RCV002207226 RCV001499991 RCV002055995 RCV000794174 RCV005058444 RCV003586371 RCV000168019 RCV003051382 RCV003073659 RCV003092943 RCV001852093 RCV000537605 RCV002628011 RCV002597510 RCV002761580 RCV002818991 RCV002862582 RCV002517183 RCV003748205 RCV001853160 RCV000458464 RCV003765254 RCV002928634 RCV002975221 RCV001421078 RCV002979502 RCV002988587 RCV000824163 RCV003039209 RCV001522619 RCV001084581 RCV002057125 RCV001494254 RCV002517485 RCV001422805 RCV005104243 RCV003587317 RCV003587394 RCV003587716 RCV000333298 RCV003748534 RCV000308941 RCV000390447 RCV000387834 RCV003749842 RCV003748011 RCV003748103 RCV003748696 RCV003748135 RCV003749640 RCV003836619 RCV003831278 RCV001514771 RCV000465076 RCV001462072 RCV000330572 RCV000315825 RCV002054474 RCV001085057 RCV002525953 RCV000545242 RCV000555535 RCV000544308 RCV000559118 RCV000544548 RCV000529439 RCV002531120 RCV002529531 RCV002060641 RCV001217860 RCV001868136 RCV001485080 RCV001070182 RCV000358872 RCV000768522 RCV000260616 RCV001339474 RCV000459249 RCV005089366 RCV000206171 RCV000264108 RCV000704287 RCV001492541 RCV000811497 RCV000796939 RCV001401485 RCV001066039 RCV001038417 RCV001037228 RCV001061554 RCV001065784 RCV001043390 RCV001295089 RCV001211643 RCV001209259 RCV001225964 RCV001237993 RCV001238834
Lung cancer	Benign	rs77187847	RCV005903956
MYOZ2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs774202003, rs192725921, rs17851524, rs17049982, rs372006344, rs748259386	RCV003955221 RCV003942372 RCV003974855 RCV003904933 RCV003914954 RCV003398969
Primary familial hypertrophic cardiomyopathy	Uncertain significance	rs200791464, rs1578374324	RCV000623809 RCV000853157
Restrictive cardiomyopathy	Conflicting classifications of pathogenicity	rs143345726	RCV000852986
Sarcoma	Benign; Likely benign	rs149125238	RCV005895015
Uterine corpus endometrial carcinoma	Benign	rs77187847	RCV005903957

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)