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Aliases for BRINP3 Gene

Aliases for BRINP3 Gene

  • BMP/Retinoic Acid Inducible Neural Specific 3 2 3 5
  • Bone Morphogenetic Protein/Retinoic Acid Inducible Neural-Specific 3 2 3
  • Family With Sequence Similarity 5, Member C 2 3
  • DBCCR1-Like Protein 1 3 4
  • DBCCR1L1 3 4
  • DBCCR1L 3 4
  • FAM5C 3 4
  • BMP/Retinoic Acid-Inducible Neural-Specific Protein 3 3
  • Protein FAM5C 3

External Ids for BRINP3 Gene

Previous HGNC Symbols for BRINP3 Gene

  • FAM5C

Summaries for BRINP3 Gene

Entrez Gene Summary for BRINP3 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 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]

GeneCards Summary for BRINP3 Gene

BRINP3 (BMP/Retinoic Acid Inducible Neural Specific 3) is a Protein Coding gene. Diseases associated with BRINP3 include Tongue Squamous Cell Carcinoma and Myocardial Infarction. An important paralog of this gene is BRINP2.

UniProtKB/Swiss-Prot for BRINP3 Gene

  • 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.

Additional gene information for BRINP3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRINP3 Gene

Genomics for BRINP3 Gene

Regulatory Elements for BRINP3 Gene

Enhancers for BRINP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H190473 0.8 ENCODE 10.7 +1.6 1635 6 CTCF PKNOX1 MXI1 ZNF384 EBF1 CEBPG BMI1 GATA3 CTBP1 ZNF316 BRINP3 LINC01351 GC01M190277
GH01H189658 0.5 ENCODE 3.8 +819.8 819839 0 PKNOX1 JUND EP300 BRINP3 RNA5SP73 GC01M189625 PIR32764
GH01H189657 0.5 ENCODE 3.8 +820.5 820519 0 HLF CEBPB EP300 BRINP3 RNA5SP73 PIR32764 GC01M189625
GH01H190596 0.4 ENCODE 4.6 -119.0 -118978 2 PKNOX1 TCF7L2 BRINP3 LINC01720 ENSG00000241505
GH01H190709 0.3 FANTOM5 3.8 -231.0 -231039 0 BRINP3 GC01M190635 ENSG00000236025
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRINP3 on UCSC Golden Path with GeneCards custom track

Promoters for BRINP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000017377 -297 1399 CTCF PKNOX1 MXI1 ZNF384 EBF1 BMI1 CTBP1 GATA3 POLR2A EZH2

Genomic Location for BRINP3 Gene

Chromosome:
1
Start:
190,097,662 bp from pter
End:
190,478,404 bp from pter
Size:
380,743 bases
Orientation:
Minus strand

Genomic View for BRINP3 Gene

Genes around BRINP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRINP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRINP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRINP3 Gene

Proteins for BRINP3 Gene

  • Protein details for BRINP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76B58-BRNP3_HUMAN
    Recommended name:
    BMP/retinoic acid-inducible neural-specific protein 3
    Protein Accession:
    Q76B58
    Secondary Accessions:
    • B3KVP1
    • B7Z260
    • O95726
    • Q2M330

    Protein attributes for BRINP3 Gene

    Size:
    766 amino acids
    Molecular mass:
    88445 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BRINP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRINP3 Gene

Post-translational modifications for BRINP3 Gene

  • Glycosylation at posLast=168168, posLast=337337, Asn456, posLast=562562, Asn609, and Asn641
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BRINP3 Gene

Domains & Families for BRINP3 Gene

Gene Families for BRINP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for BRINP3 Gene

Suggested Antigen Peptide Sequences for BRINP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q76B58

UniProtKB/Swiss-Prot:

BRNP3_HUMAN :
  • Belongs to the BRINP family.
Family:
  • Belongs to the BRINP family.
genes like me logo Genes that share domains with BRINP3: view

Function for BRINP3 Gene

Molecular function for BRINP3 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for BRINP3 Gene

Phenotypes for BRINP3 Gene

GenomeRNAi human phenotypes for BRINP3:
genes like me logo Genes that share phenotypes with BRINP3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BRINP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BRINP3 Gene

Localization for BRINP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRINP3 Gene

Secreted. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRINP3 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
mitochondrion 3
golgi apparatus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BRINP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA,IBA --
GO:0030425 dendrite IEA,IBA --
GO:0043025 neuronal cell body IBA,IEA --
genes like me logo Genes that share ontologies with BRINP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BRINP3 Gene

Pathways & Interactions for BRINP3 Gene

SuperPathways for BRINP3 Gene

No Data Available

Interacting Proteins for BRINP3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000356432%0d%0a9606.ENSP00000246672%0d%0a9606.ENSP00000331201%0d%0a
Selected Interacting proteins: ENSP00000356432 Q76B58-BRNP3_HUMAN for BRINP3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for BRINP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
GO:0007399 nervous system development IEA --
GO:0045666 positive regulation of neuron differentiation IEA,ISS --
GO:0045786 negative regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with BRINP3: view

No data available for Pathways by source and SIGNOR curated interactions for BRINP3 Gene

Drugs & Compounds for BRINP3 Gene

No Compound Related Data Available

Transcripts for BRINP3 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BRINP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BRINP3 Gene

No ASD Table

Relevant External Links for BRINP3 Gene

GeneLoc Exon Structure for
BRINP3
ECgene alternative splicing isoforms for
BRINP3

Expression for BRINP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRINP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BRINP3 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.1), Brain - Cortex (x4.9), Brain - Amygdala (x4.3), and Brain - Frontal Cortex (BA9) (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of BRINP3 Gene:

BRINP3

mRNA Expression by UniProt/SwissProt for BRINP3 Gene:

Q76B58-BRNP3_HUMAN
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 tissues.

Evidence on tissue expression from TISSUES for BRINP3 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with BRINP3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRINP3 Gene

Orthologs for BRINP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BRINP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRINP3 34
  • 100 (a)
OneToOne
FAM5C 33
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia BRINP3 34
  • 99 (a)
OneToOne
FAM5C 33
  • 94.73 (n)
cow
(Bos Taurus)
Mammalia BRINP3 34
  • 98 (a)
OneToOne
FAM5C 33
  • 93.17 (n)
oppossum
(Monodelphis domestica)
Mammalia BRINP3 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRINP3 34
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brinp3 33 16 34
  • 91.17 (n)
rat
(Rattus norvegicus)
Mammalia Brinp3 33
  • 90.91 (n)
chicken
(Gallus gallus)
Aves BRINP3 34
  • 95 (a)
OneToOne
FAM5C 33
  • 86.38 (n)
lizard
(Anolis carolinensis)
Reptilia BRINP3 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam5c 33
  • 81.24 (n)
zebrafish
(Danio rerio)
Actinopterygii BRINP3 34
  • 73 (a)
OneToOne
LOC100001603 33
  • 72.12 (n)
Species where no ortholog for BRINP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BRINP3 Gene

ENSEMBL:
Gene Tree for BRINP3 (if available)
TreeFam:
Gene Tree for BRINP3 (if available)

Paralogs for BRINP3 Gene

Paralogs for BRINP3 Gene

(2) SIMAP similar genes for BRINP3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BRINP3: view

Variants for BRINP3 Gene

Sequence variations from dbSNP and Humsavar for BRINP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000000976 -- 190,148,185(+) AAGCT(C/T)TCTCT intron-variant
rs1000002036 -- 190,422,012(+) TTCCT(C/G)TCCAA intron-variant
rs1000008107 -- 190,244,035(+) TAACT(A/C)CACAT intron-variant
rs1000018133 -- 190,187,819(+) GATGT(A/C)TCCAG intron-variant
rs1000025429 -- 190,304,223(+) ATTAT(A/C)TAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BRINP3 Gene

Variant ID Type Subtype PubMed ID
dgv495n100 CNV loss 25217958
dgv50n27 CNV loss 19166990
dgv693n54 CNV loss 21841781
dgv694n54 CNV loss 21841781
dgv695n54 CNV loss 21841781
dgv90n67 CNV loss 20364138
esv24408 CNV gain 19812545
esv2668836 CNV deletion 23128226
esv2671428 CNV deletion 23128226
esv2675501 CNV deletion 23128226
esv2762036 CNV gain 21179565
esv2762204 CNV loss 21179565
esv2764208 CNV loss 21179565
esv3544099 CNV deletion 23714750
esv3588296 CNV loss 21293372
esv3588297 CNV loss 21293372
esv3588298 CNV loss 21293372
esv3588299 CNV loss 21293372
esv3588300 CNV loss 21293372
esv3588301 CNV loss 21293372
esv3588302 CNV loss 21293372
esv3588303 CNV loss 21293372
nsv1003035 CNV gain 25217958
nsv1007121 CNV loss 25217958
nsv161162 CNV deletion 16902084
nsv3932 CNV insertion 18451855
nsv480844 CNV novel sequence insertion 20440878
nsv548532 CNV gain 21841781
nsv548552 CNV loss 21841781
nsv832104 CNV gain 17160897

Variation tolerance for BRINP3 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRINP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRINP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRINP3 Gene

Disorders for BRINP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BRINP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tongue squamous cell carcinoma
  • carcinoma, squamous cell
myocardial infarction
  • myocardial infarction, protection against
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BRINP3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRINP3
genes like me logo Genes that share disorders with BRINP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRINP3 Gene

Publications for BRINP3 Gene

  1. Expression of the FAM5C in tongue squamous cell carcinoma. (PMID: 19787213) Kuroiwa T … Shibahara T (Oncology reports 2009) 3 4 60
  2. Genetic and functional association of FAM5C with myocardial infarction. (PMID: 18430236) Connelly JJ … Gregory SG (BMC medical genetics 2008) 3 4 60
  3. Bone morphogenetic protein and retinoic acid-inducible neural specific protein-3 is expressed in gonadotrope cell pituitary adenomas and induces proliferation, migration, and invasion. (PMID: 17138656) Shorts-Cary L … Wierman ME (Endocrinology 2007) 3 4 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  5. Id4 and FABP7 are preferentially expressed in cells with astrocytic features in oligodendrogliomas and oligoastrocytomas. (PMID: 16018821) Liang Y … Gupta N (BMC clinical pathology 2005) 2 3 60

Products for BRINP3 Gene

Sources for BRINP3 Gene

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