BRINP3 (BMP/retinoic acid inducible neural specific 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
339479
Gene name Gene Name - the full gene name approved by the HGNC.
BMP/retinoic acid inducible neural specific 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRINP3
Synonyms (NCBI Gene) Gene synonyms aliases
DBCCR1L, DBCCR1L1, FAM5C
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and a
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion IEA
GO:0007399 Process Nervous system development IEA
GO:0007399 Process Nervous system development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618390 22393 ENSG00000162670
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q76B58
Protein name BMP/retinoic acid-inducible neural-specific protein 3 (DBCCR1-like protein 1)
Protein function Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development. {ECO:00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01823 MACPF 52 → 207 MAC/Perforin domain Domain
PF19052 BRINP 319 → 766 BMP/retinoic acid-inducible neural-specific protein Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in oral keratinocytes compared to the weak expression in tongue squamous cell carcinoma (SCC). Expressed in endothelial and aortic smooth muscle cells. Overexpressed in gonadotropinomas compared to normal pituitarie
Sequence
Sequence length 766
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event) N/A N/A GWAS
Gout Gout N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aggressive Periodontitis Associate 20383335, 25887438
Carcinoma Basal Cell Associate 34972722
Cardiovascular Diseases Associate 29100088
Chronic Periodontitis Associate 25887438
Colitis Ulcerative Inhibit 25171508
Coronary Disease Associate 22013132, 27461004
Inflammation Associate 27461004
Ischemia Stimulate 30649309
Leiomyoma Associate 30196971
Lymphatic Metastasis Associate 22377736