Gene Gene information from NCBI Gene database.
Entrez ID 6700
Gene name Small proline rich protein 2A
Gene symbol SPRR2A
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT2338135 hsa-miR-3121-5p CLIP-seq
MIRT2338136 hsa-miR-4690-3p CLIP-seq
MIRT2338137 hsa-miR-617 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ELF3 Activation 10773884
POU2F3 Unknown 8816448
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope TAS
GO:0005515 Function Protein binding IPI 18155796
GO:0005576 Component Extracellular region IDA 34735226
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182267 11261 ENSG00000241794
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35326
Protein name Small proline-rich protein 2A (SPR-2A) (2-1)
Protein function Gut bactericidal protein that selectively kills Gram-positive bacteria by binding to negatively charged lipids on bacterial membranes, leading to bacterial membrane permeabilization and disruption (PubMed:34735226). Specifically binds lipids bea
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14820 SPRR2 2 69 Small proline-rich 2 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in intestine; selectively expressed in goblet cells. {ECO:0000269|PubMed:34735226}.
Sequence
Sequence length 72
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyloidosis Amyloidosis BEFREE 31243684
★☆☆☆☆
Found in Text Mining only
Anal carcinoma Anal Cancer BEFREE 10891534
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 27188728
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 26771601 Inhibit
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 29706949
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 22933251 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Pancreatitis Autoimmune pancreatitis Pubtator 32147308 Associate
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia BEFREE 24946023, 26600408
★☆☆☆☆
Found in Text Mining only
beta^+^ Thalassemia beta Thalassemia BEFREE 24946023, 26600408
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31574376
★☆☆☆☆
Found in Text Mining only