SPRR2B (Small Proline-Rich Protein 2B)

A cornified envelope precursor gene involved in epidermal barrier function and squamous cell differentiation.

Gene Information Card

Symbol SPRR2B
Full Name Small Proline-Rich Protein 2B
Gene Type Protein coding
Chromosomal Location 1q21.3
NCBI Gene ID 6701 ncbi.nlm.nih.gov/gene/6701
Ensembl ID ENSG00000163349
UniProt ID P35326
OMIM ID 182268
HGNC ID 11263
Aliases SPRR2, SPRR2B, small proline-rich protein 2B

Description

SPRR2B encodes a member of the small proline-rich protein family, which are components of the cornified cell envelope in stratified squamous epithelia. These proteins are cross-linked by transglutaminases during terminal differentiation of keratinocytes, contributing to the barrier function of skin and oral mucosa. SPRR2B expression is induced during inflammation and wound healing, and its dysregulation is observed in certain squamous cell carcinomas.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Squamous cell carcinoma (skin) Overexpression of SPRR2B may contribute to altered cornified envelope assembly and tumor progression. COSMIC; PMID: 10652318
Psoriasis Upregulated in psoriatic epidermis, possibly as part of aberrant differentiation. NCBI Gene; PMID: 10652318
Oral squamous cell carcinoma Increased SPRR2B expression linked to differentiation status. COSMIC; PMID: 10652318

Expression Profile

Tissue Expression
Tissue nTPM level
Skin 12.5 Medium
Esophagus 8.3 Medium
Oral mucosa 15.1 High
Vagina 10.2 Medium
Lung 0.8 Low
Cell Line Expression
Cell Line nTPM Notes
HaCaT (keratinocyte) 14.2 High expression in differentiated cells
A431 (epidermoid carcinoma) 11.5 Moderate expression
SCC-25 (oral squamous) 9.8 Moderate expression
HEK293 0.3 Very low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.01% Likely loss of start codon; effect unknown
c.124C>T (p.Arg42Cys) Missense <0.01% Rare variant; no functional data
c.205G>A (p.Gly69Ser) Missense <0.01% Rare variant; no functional data
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Gene Ontology (GO)

• cornified envelope • keratinocyte differentiation
• structural constituent of skin epidermis • transglutaminase substrate

Pathways

• Keratinocyte differentiation
• Formation of the cornified envelope

Protein Summary

SPRR2B is a 73-amino-acid protein (8.5 kDa) rich in proline and glutamine, containing multiple repeats of the consensus sequence QQKQPCQPPV. It is cross-linked by transglutaminases to other envelope proteins (e.g., loricrin, involucrin) during terminal differentiation. The protein localizes to the cytoplasm and cell periphery of stratified squamous epithelial cells.

Related Products

Product name Cat.No. Species Gene ID
SPRR2B Knockout HEK293 Cell Line EDJ-KQ16780 Human 6701 Details Get a Quote
SPRR2B Knockout HeLa Cell Line EDJ-KQ54553 Human 6701 Details Get a Quote
SPRR2B Knockout A-549 Cell Line EDJ-KQ63037 Human 6701 Details Get a Quote
SPRR2B Knockout HCT 116 Cell Line EDJ-KQ71513 Human 6701 Details Get a Quote
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