PRB3 (proline rich protein BstNI subfamily 3)

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Gene Gene information from NCBI Gene database.
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Entrez ID 5544
Gene name Proline rich protein BstNI subfamily 3
Gene symbol PRB3
Synonyms (NCBI Gene)
G1PRG
Chromosome 12
Chromosome location 12p13.2
Summary This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the "Lo
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 1894623
GO:0050829 Process Defense response to Gram-negative bacterium NAS 1894623
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
168840 9339 ENSG00000197870
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04118
Protein name Basic salivary proline-rich protein 3 (Parotid salivary glycoprotein G1) (Proline-rich protein G1)
Protein function Acts as a receptor for the Gram-negative bacterium F.nucleatum.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15240 Pro-rich 1 → 117 Proline-rich Disordered
PF15240 Pro-rich 215 → 304 Proline-rich Disordered
Sequence 
MLLILLSVALLALSSAQSLNEDVSQEESPSVISGKPEGRRPQGGNQPQRTPPPPGKPEGR
PPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGQPPQGGNQSQGPPPRPGKP
EGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPHPGKPEGPPPQGGNQSQGPPPRP
GKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGSPSQGGNKPQGPP
PHPGKPQGPPPQEGNKPQRPPPPGRPQGPPPPGGNPQQPLPPPAGKPQGPPPPPQGGRPH
RPPQGQPPQ
Sequence length 309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
PRB3M(NULL) Pathogenic rs3842295 RCV000014737
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRB3S(CYS) Pathogenic rs71455367 RCV000014736
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 22745723 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Gaucher Disease Gaucher disease Pubtator 1334945 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Kidney Failure, Acute Kidney Failure BEFREE 28886014
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29296842
★★★★★
★☆☆☆☆
Found in Text Mining only
Oligospermia Oligospermia BEFREE 31002754
★★★★★
★☆☆☆☆
Found in Text Mining only
Prolactinoma Prolactinoma BEFREE 24135847
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for PRB3.

No additional diseases found yet through genes similar to PRB3.