SPRR2E Gene Summary [Human]

This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]

Details

Type
Protein Coding
Official Symbol
SPRR2E
Official Name
small proline rich protein 2E [Source:HGNC Symbol;Acc:HGNC:11265]
Ensembl ID
ENSG00000203785
Bio databases IDs NCBI: 6704 Ensembl: ENSG00000203785
Aliases small proline rich protein 2E
Synonyms small proline rich protein 2E, SPR-2E
Species
Human, Homo sapiens

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 SPRR2E often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • structural constituent of epidermis
  • protein binding
  • structural molecule

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • eczema
  • plaque psoriasis
regulated by
regulates
  • peptide

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
  • cornified envelope
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SPRR2E gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • epidermis development
  • keratinization
  • peptide cross-linking

Cellular Component

Where in the cell the gene product is active
  • cornified envelope
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • structural constituent of epidermis
  • protein binding
  • structural molecule activity

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