BRINP3

BMP/retinoic acid inducible neural specific 3 is a protein that in humans is encoded by the BRINP3 gene. ^[5]

BRINP3
Identifiers
Aliases	BRINP3, DBCCR1L, DBCCR1L1, FAM5C, BMP/retinoic acid inducible neural specific 3
External IDs	OMIM: 618390 MGI: 2443035 HomoloGene: 17786 GeneCards: BRINP3
Gene location (Human) Chr. Chromosome 1 (human)^[1] Band 1q31.1 Start 190,097,658 bp^[1] End 190,478,404 bp^[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)^[2] Band 1 F|1 63.24 cM Start 146,370,498 bp^[2] End 146,778,210 bp^[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell prefrontal cortex amygdala dorsolateral prefrontal cortex cingulate gyrus Brodmann area 9 hypothalamus cerebellar hemisphere nucleus accumbens Brodmann area 23 Top expressed in ventromedial nucleus mammillary body piriform cortex dorsomedial hypothalamic nucleus supraoptic nucleus lateral hypothalamus suprachiasmatic nucleus paraventricular nucleus of hypothalamus dorsal tegmental nucleus superior frontal gyrus More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 339479 215378 Ensembl ENSG00000162670 ENSMUSG00000035131 UniProt Q76B58 Q499E0 RefSeq (mRNA) NM_199051 NM_001317188 NM_001145807 NM_153539 NM_001357571 NM_001357572 RefSeq (protein) NP_001304117 NP_950252 NP_001139279 NP_705767 NP_001344500 NP_001344501 Location (UCSC) Chr 1: 190.1 – 190.48 Mb Chr 1: 146.37 – 146.78 Mb PubMed search ^[3] ^[4]
Wikidata
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Function

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 an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015].

References

1. GRCh38: Ensembl release 89: ENSG00000162670 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035131 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: BMP/retinoic acid inducible neural specific 3". Retrieved 2018-08-03.

Further reading

• Shorts-Cary L, Xu M, Ertel J, Kleinschmidt-Demasters BK, Lillehei K, Matsuoka I, Nielsen-Preiss S, Wierman ME (March 2007). "Bone morphogenetic protein and retinoic acid-inducible neural specific protein-3 is expressed in gonadotrope cell pituitary adenomas and induces proliferation, migration, and invasion". Endocrinology. 148 (3): 967–75. doi:10.1210/en.2006-0905. PMID 17138656.
• Vasan RS, Larson MG, Aragam J, Wang TJ, Mitchell GF, Kathiresan S, Newton-Cheh C, Vita JA, Keyes MJ, O'Donnell CJ, Levy D, Benjamin EJ (September 2007). "Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study". BMC Med. Genet. 8 (Suppl 1): S2. doi:10.1186/1471-2350-8-S1-S2. PMC 1995617. PMID 17903301.
• Connelly JJ, Shah SH, Doss JF, Gadson S, Nelson S, Crosslin DR, Hale AB, Lou X, Wang T, Haynes C, Seo D, Crossman DC, Mooser V, Granger CB, Jones CJ, Kraus WE, Hauser ER, Gregory SG (April 2008). "Genetic and functional association of FAM5C with myocardial infarction". BMC Med. Genet. 9: 33. doi:10.1186/1471-2350-9-33. PMC 2383879. PMID 18430236.
• Connelly JJ, Shah SH, Doss JF, Gadson S, Nelson S, Crosslin DR, Hale AB, Lou X, Wang T, Haynes C, Seo D, Crossman DC, Mooser V, Granger CB, Jones CJ, Kraus WE, Hauser ER, Gregory SG (April 2008). "Genetic and functional association of FAM5C with myocardial infarction". BMC Med. Genet. 9: 33. doi:10.1186/1471-2350-9-33. PMC 2383879. PMID 18430236.
• Kuroiwa T, Yamamoto N, Onda T, Shibahara T (November 2009). "Expression of the FAM5C in tongue squamous cell carcinoma". Oncol. Rep. 22 (5): 1005–11. doi:10.3892/or_00000528. PMID 19787213.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Carvalho FM, Tinoco EM, Deeley K, Duarte PM, Faveri M, Marques MR, Mendonça AC, Wang X, Cuenco K, Menezes R, Garlet GP, Vieira AR (April 2010). "FAM5C contributes to aggressive periodontitis". PLOS ONE. 5 (4): e10053. Bibcode:2010PLoSO...510053C. doi:10.1371/journal.pone.0010053. PMC 2850931. PMID 20383335.
• Carvalho FM, Tinoco EM, Deeley K, Duarte PM, Faveri M, Marques MR, Mendonça AC, Wang X, Cuenco K, Menezes R, Garlet GP, Vieira AR (April 2010). "FAM5C contributes to aggressive periodontitis". PLOS ONE. 5 (4): e10053. Bibcode:2010PLoSO...510053C. doi:10.1371/journal.pone.0010053. PMC 2850931. PMID 20383335.
• Cline JL, Beckie TM (April 2013). "The relationships between FAM5C SNP (rs10920501) variability and metabolic syndrome and inflammation in women with coronary heart disease". Biol Res Nurs. 15 (2): 160–6. doi:10.1177/1099800411424487. PMC 4108984. PMID 22013132.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.