SPRR2E
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| small proline rich protein 2E | MIM:617588 | Ensembl:ENSG00000203785 | HGNC:HGNC:11265 | PA36094 | 1q21.3 |
GO terms in SPRR2E
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0001533 | cornified envelope |
| CC | IDA | GO:0001533 | cornified envelope |
| CC | TAS | GO:0001533 | cornified envelope |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| BP | NAS | GO:0008544 | epidermis development |
| BP | IBA | GO:0018149 | peptide cross-linking |
| BP | IDA | GO:0018149 | peptide cross-linking |
| BP | IBA | GO:0030216 | keratinocyte differentiation |
| BP | TAS | GO:0070268 | cornification |
| MF | IBA | GO:0005198 | structural molecule activity |
| MF | TAS | GO:0005198 | structural molecule activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0030280 | structural constituent of epidermis |
Gene expression in normal tissue: SPRR2E
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPRR2E
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-6805567 | Keratinization |
| reactome | R-HSA-6809371 | Formation of the cornified envelope |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPRR2E
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