SPRR2B (small proline rich protein 2B)

Gene

• Entrez ID: 6701
• Gene name: Small proline rich protein 2B
• Gene symbol: SPRR2B
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1q21.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1385962	hsa-miR-25	CLIP-seq
MIRT1385963	hsa-miR-2681	CLIP-seq
MIRT1385964	hsa-miR-32	CLIP-seq
MIRT1385965	hsa-miR-3529	CLIP-seq
MIRT1385966	hsa-miR-3609	CLIP-seq
MIRT1385967	hsa-miR-363	CLIP-seq
MIRT1385968	hsa-miR-367	CLIP-seq
MIRT1385969	hsa-miR-379	CLIP-seq
MIRT1385970	hsa-miR-4270	CLIP-seq
MIRT1385971	hsa-miR-4441	CLIP-seq
MIRT1385972	hsa-miR-4451	CLIP-seq
MIRT1385973	hsa-miR-4504	CLIP-seq
MIRT1385974	hsa-miR-4536	CLIP-seq
MIRT1385975	hsa-miR-4650-3p	CLIP-seq
MIRT1385976	hsa-miR-548ah	CLIP-seq
MIRT1385977	hsa-miR-548t	CLIP-seq
MIRT1385978	hsa-miR-552	CLIP-seq
MIRT1385979	hsa-miR-92a	CLIP-seq
MIRT1385980	hsa-miR-92b	CLIP-seq
MIRT2115509	hsa-miR-125a-3p	CLIP-seq
MIRT1385970	hsa-miR-4270	CLIP-seq
MIRT1385971	hsa-miR-4441	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	NAS	8325635
GO:0001533	Component	Cornified envelope	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008544	Process	Epidermis development	NAS	8325635
GO:0030216	Process	Keratinocyte differentiation	NAS	8325635
GO:0031424	Process	Keratinization	IEA

Other IDs

• MIM: 182268
• HGNC: 11262
• e!Ensembl: ENSG00000196805

Protein

• UniProt ID: P35325
• Protein name: Small proline-rich protein 2B (SPR-2B)
• Protein function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14820	SPRR2	2 → 69	Small proline-rich 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Suprabasal layers of squamous-differentiated tissues such as epidermis, esophagus, tongue and trachea.
• Sequence:

  MSYQQQQCKQPCQPPPVCPTPKCPEPCPPPKCPEPCPPPKCPQPCPPQQCQQKYPPVTPS
  PPCQPKYPPKSK

• Sequence length: 72

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	CTD_human_DG	21912604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	22374195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	22374195	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	29581288		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22374195		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	22374195	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29581288		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29581288		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35003328	Associate	★☆☆☆☆ Found in Text Mining only