MYOCD

myocardin, the group of Myocardin family

Basic information

Region (hg38): 17:12665889-12768949

Links

ENSG00000141052 ∙ NCBI:93649 ∙ OMIM:606127 ∙ HGNC:16067 ∙ Uniprot:Q8IZQ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• megabladder, congenital (Limited), mode of inheritance: AD
• megabladder, congenital (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Megabladder, congenital	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary; Renal	31513549

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYOCD gene.

• not provided (41 variants)
• Inborn genetic diseases (34 variants)
• - (2 variants)
• Megabladder, congenital (2 variants)
• not specified (1 variants)
• Intellectual disability;Seizure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOCD gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	7	8
missense			33	2	7	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region		1				1
non coding					24	24
Total	0	0	33	3	38

Variants in MYOCD

This is a list of pathogenic ClinVar variants found in the MYOCD region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-12666125-G-A			Benign (Jun 20, 2021)
17-12704954-T-C			Benign (Jun 20, 2021)
17-12705154-A-G		not specified	Uncertain significance (Mar 06, 2023)
17-12705181-G-C		not specified	Uncertain significance (Jul 09, 2021)
17-12715310-C-CCT			Benign (Nov 12, 2018)
17-12715363-G-C			Benign (Jun 20, 2021)
17-12717394-G-A			Benign (May 08, 2017)
17-12717444-A-G			Benign (Nov 12, 2018)
17-12717580-G-A			Benign (Nov 12, 2018)
17-12722609-G-A			Benign (Jun 20, 2021)
17-12722936-C-T		Prune belly syndrome • Megabladder, congenital	Pathogenic (Dec 23, 2019)
17-12722951-G-A		not specified	Uncertain significance (May 31, 2023)
17-12722952-A-G		not specified	Uncertain significance (Oct 12, 2022)
17-12735977-T-C			Benign (Nov 12, 2018)
17-12736168-G-A			Benign (Jun 09, 2021)
17-12736251-G-A		Megabladder, congenital • not specified	Conflicting classifications of pathogenicity (Jul 16, 2021)
17-12736288-C-T			Uncertain significance (-)
17-12738949-TTA-T			Benign (Jun 20, 2021)
17-12739270-C-T		not specified	Uncertain significance (Sep 13, 2023)
17-12739288-G-GC		-	no classification for the single variant (-)
17-12739573-T-C			Benign (Nov 12, 2018)
17-12744091-A-G			Benign (Jun 21, 2021)
17-12744173-T-C			Benign (Nov 12, 2018)
17-12744190-C-A		not specified	Uncertain significance (Dec 22, 2023)
17-12744226-A-G		not specified	Uncertain significance (Oct 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOCD	protein_coding	protein_coding	ENST00000425538	14	103060

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.334	0.666	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.336	517	539	0.959	0.0000281	6463
Missense in Polyphen		197	214.38	0.91894		2654
Synonymous	-1.28	251	227	1.11	0.0000136	1975
Loss of Function	4.73	10	43.8	0.228	0.00000245	468

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000885	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.0000431	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Smooth muscle cells (SM) and cardiac muscle cells- specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity). {ECO:0000250, ECO:0000269|PubMed:12640126}.
• Pathway: SRF and miRs in Smooth Muscle Differentiation and Proliferation;PDGFR-beta signaling pathway (Consensus)

Recessive Scores

• pRec: 0.216

Intolerance Scores

• loftool: 0.0234
• rvis_EVS: -0.68
• rvis_percentile_EVS: 15.39

Haploinsufficiency Scores

• pHI: 0.453
• hipred: Y
• hipred_score: 0.594
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.653

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Myocd
• Phenotype: muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of cell growth by extracellular stimulus;vasculogenesis;response to hypoxia;cardiac ventricle development;positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;positive regulation of cell population proliferation;negative regulation of cell population proliferation;negative regulation of cardiac muscle cell apoptotic process;negative regulation of myotube differentiation;positive regulation of transforming growth factor beta receptor signaling pathway;cardiocyte differentiation;regulation of histone acetylation;vascular smooth muscle cell differentiation;positive regulation of DNA binding;cellular component maintenance;regulation of myoblast differentiation;negative regulation of cyclin-dependent protein serine/threonine kinase activity;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of smooth muscle contraction;lung alveolus development;digestive tract development;positive regulation of DNA-binding transcription factor activity;smooth muscle cell differentiation;regulation of smooth muscle cell differentiation;positive regulation of smooth muscle cell differentiation;cardiac muscle cell differentiation;ventricular cardiac muscle cell differentiation;uterus development;urinary bladder development;ductus arteriosus closure;negative regulation of amyloid-beta clearance;regulation of phenotypic switching;negative regulation of vascular smooth muscle cell proliferation;negative regulation of vascular associated smooth muscle cell migration;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation;positive regulation of cardiac vascular smooth muscle cell differentiation;positive regulation of cardiac muscle cell differentiation;negative regulation of skeletal muscle cell differentiation
• Cellular component: nuclear chromatin;nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription activator activity, RNA polymerase II-specific;transcription coactivator activity;protein binding;transcription factor binding;histone acetyltransferase binding;histone deacetylase binding;RNA polymerase II-specific DNA-binding transcription factor binding;R-SMAD binding