MEGF8 Gene Summary [Human]
The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | MEGF8 |
| Official Name | multiple EGF like domains 8 [Source:HGNC Symbol;Acc:HGNC:3233] |
| Ensembl ID | ENSG00000105429 |
| Bio databases IDs | |
| Aliases | multiple EGF like domains 8, HBV pre s2 binding protein 1 |
| Synonyms | AW049492, b2b1702.2Clo, b2b1702Clo, b2b288Clo, C19orf49, CRPT2, EG628781, EGFL4, LOC269878, m687Ddg, mKIAA0817, multiple EGF-like-domains 8, SBP1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 MEGF8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Laminin-type epidermal growth factor-like domai
- Galactose oxidase, central domain
- Kelch motif
- Plexin repeat
- CUB
- EGF domain
- protein binding
- Laminin EGF domain
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Carpenter syndrome type 2
- acrocephalopolysyndactyly type II
- stenosis
- atrial septal defect
- congenital heart disease
- exencephaly
- edema
- ventricular septal defect
- preaxial polydactyly
regulates
- protein-protein complex
role in cell
- outgrowth
- fasciculation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cellular membrane
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MEGF8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic heart tube left/right pattern formation
- determination of heart left/right asymmetry
- determination of digestive tract left/right asymmetry
- coronary vasculature development
- craniofacial suture morphogenesis
- positive regulation of axon extension involved in axon guidance
- embryonic heart tube morphogenesis
- left/right pattern formation
- negative regulation of smoothened signaling pathway
- embryonic skeletal system morphogenesis
- fasciculation of sensory neuron axon
- embryonic limb morphogenesis
- cell migration involved in gastrulation
- BMP signaling pathway
- regulation of gene expression
- epiboly involved in gastrulation with mouth forming second
- limb morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding