MYOCD myocardin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOCDprovided by HGNC
Official Full Name: myocardinprovided by HGNC
Primary source: HGNC:HGNC:16067
See related: Ensembl:ENSG00000141052 MIM:606127; AllianceGenome:HGNC:16067
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGBL; MYCD
Summary: This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression: Broad expression in esophagus (RPKM 7.3), endometrium (RPKM 5.9) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (12665890..12768949)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (12573362..12676444)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (12569207..12672266)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myocardin regulates fibronectin expression and secretion from human pleural mesothelial cells.
Title: Myocardin regulates fibronectin expression and secretion from human pleural mesothelial cells.
Myocardin regulates exon usage in smooth muscle cells through induction of splicing regulatory factors.
Title: Myocardin regulates exon usage in smooth muscle cells through induction of splicing regulatory factors.
Myocardin/microRNA-30a/Beclin1 signaling controls the phenotypic modulation of vascular smooth muscle cells by regulating autophagy.
Title: Myocardin/microRNA-30a/Beclin1 signaling controls the phenotypic modulation of vascular smooth muscle cells by regulating autophagy.
CARMN Is an Evolutionarily Conserved Smooth Muscle Cell-Specific LncRNA That Maintains Contractile Phenotype by Binding Myocardin.
Title: CARMN Is an Evolutionarily Conserved Smooth Muscle Cell-Specific LncRNA That Maintains Contractile Phenotype by Binding Myocardin.
Serum response factor-cofactor interactions and their implications in disease.
Title: Serum response factor-cofactor interactions and their implications in disease.
Myocardin suppression increases lipid retention and atherosclerosis via downregulation of ABCA1 in vascular smooth muscle cells.
Title: Myocardin suppression increases lipid retention and atherosclerosis via downregulation of ABCA1 in vascular smooth muscle cells.
Antagonistic relationship between the unfolded protein response and myocardin-driven transcription in smooth muscle.
Title: Antagonistic relationship between the unfolded protein response and myocardin-driven transcription in smooth muscle.
MYOCD and SMAD3/SMAD4 form a positive feedback loop and drive TGF-beta-induced epithelial-mesenchymal transition in non-small cell lung cancer.
Title: MYOCD and SMAD3/SMAD4 form a positive feedback loop and drive TGF-β-induced epithelial-mesenchymal transition in non-small cell lung cancer.
Data show that transcription factor 21 (TCF21) directly interferes with formation and function of the myocardin (MYOCD)-serum response factor (SRF) complex.
Title: Coronary Disease-Associated Gene TCF21 Inhibits Smooth Muscle Cell Differentiation by Blocking the Myocardin-Serum Response Factor Pathway.
monoallelic loss-of-function variants in MYOCD cause congenital megabladder in males and that biallelic variants are associated with disease manifest in females that also involves the cardiovascular system.
Title: Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Megabladder, congenital MedGen: C5231472 OMIM: 618719 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of myocardin (MYOCD) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables R-SMAD binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone acetyltransferase binding	IEA Inferred from Electronic Annotation more info
enables histone deacetylase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle cell myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac vascular smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac ventricle development	IEA Inferred from Electronic Annotation more info
involved_in cardiocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular component maintenance	IEA Inferred from Electronic Annotation more info
involved_in digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in ductus arteriosus closure	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of amyloid-beta clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion molecule production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of myotube differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of platelet-derived growth factor receptor-beta signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of skeletal muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell growth by extracellular stimulus	IEA Inferred from Electronic Annotation more info
involved_in regulation of myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of phenotypic switching	IEA Inferred from Electronic Annotation more info
involved_in regulation of smooth muscle cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in smooth muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in smooth muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription initiation-coupled chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in urinary bladder development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in uterus development	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myocardin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012972.1 RefSeqGene

Range

5001..108060

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001146312.3 → NP_001139784.1 myocardin isoform 1

See identical proteins and their annotated locations for NP_001139784.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC005358, AK292885

Consensus CDS

CCDS54091.1

UniProtKB/Swiss-Prot

Q8IZQ8

Related

ENSP00000401678.1, ENST00000425538.6

Conserved Domains (2) summary

smart00707
Location:106 → 131

RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

pfam02037
Location:371 → 404

SAP; SAP domain
NM_001378306.1 → NP_001365235.1 myocardin isoform 3

Status: REVIEWED

Source sequence(s)

AC005358

Conserved Domains (2) summary

smart00513
Location:292 → 323

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

smart00707
Location:27 → 52

RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
NM_153604.4 → NP_705832.1 myocardin isoform 2

See identical proteins and their annotated locations for NP_705832.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2) that lacks a 48 aa segment, compared to isoform 1.

Source sequence(s)

AC005358, AF532596, BQ000229, DA650534

Consensus CDS

CCDS11163.1

UniProtKB/Swiss-Prot

Q5UBU5, Q8IZQ8, Q8N7Q1

Related

ENSP00000341835.4, ENST00000343344.8

Conserved Domains (2) summary

smart00707
Location:106 → 131

RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

pfam02037
Location:371 → 404

SAP; SAP domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

12665890..12768949

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256863.1 → XP_005256920.1 myocardin isoform X2

Conserved Domains (2) summary

smart00707
Location:106 → 131

RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

pfam02037
Location:371 → 404

SAP; SAP domain
XM_017025342.1 → XP_016880831.1 myocardin isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

12573362..12676444

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317821.1 → XP_054173796.1 myocardin isoform X2
XM_054317820.1 → XP_054173795.1 myocardin isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001146313.1: Suppressed sequence

Description

NM_001146313.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.