BRINP3

Protein-coding gene in the species Homo sapiens
BRINP3
Identifiers
AliasesBRINP3, DBCCR1L, DBCCR1L1, FAM5C, BMP/retinoic acid inducible neural specific 3
External IDsOMIM: 618390; MGI: 2443035; HomoloGene: 17786; GeneCards: BRINP3; OMA:BRINP3 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for BRINP3
Genomic location for BRINP3
Band1q31.1Start190,097,658 bp[1]
End190,478,404 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for BRINP3
Genomic location for BRINP3
Band1 F|1 63.24 cMStart146,370,498 bp[2]
End146,778,210 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gonad

  • testicle

  • endothelial cell

  • prefrontal cortex

  • primary visual cortex

  • right frontal lobe

  • amygdala

  • dorsolateral prefrontal cortex

  • cingulate gyrus

  • Brodmann area 9
Top expressed in
  • lumbar subsegment of spinal cord

  • ventromedial nucleus

  • mammillary body

  • anterior amygdaloid area

  • piriform cortex

  • dorsomedial hypothalamic nucleus

  • supraoptic nucleus

  • lateral hypothalamus

  • suprachiasmatic nucleus

  • paraventricular nucleus of hypothalamus
More reference expression data
BioGPS
n/a
Orthologs
SpeciesHumanMouse
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 MbChr 1: 146.37 – 146.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000162670 – Ensembl, May 2017
  2. ^ a b c 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.


  • v
  • t
  • e

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