MYBPHL Gene Summary [Human]

This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

Details

Type
Processed Transcript
Official Symbol
MYBPHL
Official Name
myosin binding protein H like [Source:HGNC Symbol;Acc:HGNC:30434]
Ensembl ID
ENSG00000221986
Bio databases IDs NCBI: 343263 Ensembl: ENSG00000221986
Aliases myosin binding protein H like
Synonyms 1110037P11Rik, myosin binding protein H-like, RGD1310511
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MYBPHL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FN3
  • immunoglobulin domain
  • Immunoglobulin like
  • Immunoglobulin I-set domain
  • protein binding
  • Fibronectin type 3 domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • pervasive developmental disorder
regulated by
regulates
role in cell
  • relaxation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • myofilaments
  • C zone

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MYBPHL gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • in utero embryonic development

Cellular Component

Where in the cell the gene product is active
  • sarcomere

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.