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Aliases for BFAR Gene

Aliases for BFAR Gene

  • Bifunctional Apoptosis Regulator 2 3 5
  • RING Finger Protein 47 3 4
  • RNF47 3 4
  • BAR 3 4
  • Bifunctional Apoptosis Inhibitor 3

External Ids for BFAR Gene

Previous GeneCards Identifiers for BFAR Gene

  • GC16P014675
  • GC16M017798
  • GC16P014693

Summaries for BFAR Gene

GeneCards Summary for BFAR Gene

BFAR (Bifunctional Apoptosis Regulator) is a Protein Coding gene. GO annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot for BFAR Gene

  • Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.

Additional gene information for BFAR Gene

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

Genomics for BFAR Gene

Regulatory Elements for BFAR Gene

Enhancers for BFAR 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
GH16H015588 2.1 FANTOM5 Ensembl ENCODE dbSUPER 30.5 +958.5 958512 5 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 MEF2D ZNF610 PARN ENSG00000263335 BFAR LOC100505915 RRN3 ABCC1 PKD1P6 ENSG00000262171 ENSG00000241067 ENSG00000263029
GH16H015517 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23 +885.8 885822 1 YBX3 HDGF ZSCAN4 FEZF1 GLI4 ZNF2 RAD21 TCF12 EGR1 EGR2 PARN C16orf45 BFAR LOC100505915 PKD1P6 RRN3 ENSG00000270734 ENSG00000241067 LOC105371095 ENSG00000263029
GH16H014283 1.4 Ensembl ENCODE 19.9 -347.4 -347407 3 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 SLC30A9 PARN LOC100505915 ENSG00000183458 NPIPP1 NPIPA1 NPIPA3 NPIPA2 PKD1P6 RRN3 BFAR
GH16H014050 1.1 Ensembl ENCODE 23.1 -581.9 -581931 1 FOXA2 SUZ12 JUN ZSCAN4 NFRKB TSC22D4 SIN3A YBX1 CDC5L ZBTB40 PARN BFAR MKL2 LINC02186
GH16H014095 1.2 Ensembl ENCODE 20.5 -535.9 -535904 3 FOXA2 ZNF493 ZFP64 ZNF133 FEZF1 FOS ZNF202 ZC3H11A REST PPARG LOC100505915 PARN ENSG00000183458 RRN3 NPIPA3 NPIPA1 NPIPA2 ERCC4 BFAR PDXDC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BFAR on UCSC Golden Path with GeneCards custom track

Promoters for BFAR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000083721 489 1801 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B

Genomic Location for BFAR Gene

Chromosome:
16
Start:
14,632,811 bp from pter
End:
14,669,236 bp from pter
Size:
36,426 bases
Orientation:
Plus strand

Genomic View for BFAR Gene

Genes around BFAR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BFAR Gene

Proteins for BFAR Gene

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

    Protein Symbol:
    Q9NZS9-BFAR_HUMAN
    Recommended name:
    Bifunctional apoptosis regulator
    Protein Accession:
    Q9NZS9
    Secondary Accessions:
    • A8K4Z9
    • B4DUT0
    • D3DUG8

    Protein attributes for BFAR Gene

    Size:
    450 amino acids
    Molecular mass:
    52738 Da
    Quaternary structure:
    • Interacts with CASP8, BCL2 and BCL2L1 through SAM domain and also with HIP1, IFT57, ESRRBL1 and BCAP31.

    Alternative splice isoforms for BFAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BFAR Gene

Post-translational modifications for BFAR Gene

  • Ubiquitination at Lys82, Lys225, Lys247, posLast=252252, Lys261, and posLast=322322
  • Glycosylation at posLast=232232
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BFAR Gene

Domains & Families for BFAR Gene

Gene Families for BFAR Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for BFAR Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BFAR: view

No data available for UniProtKB/Swiss-Prot for BFAR Gene

Function for BFAR Gene

Molecular function for BFAR Gene

GENATLAS Biochemistry:
potential adhesion receptor,putatively involved in neural crest cells migration,close (10kb) to the ADU breakpoint in DiGeorge syndrome,(?same as LAN1,IDD)
UniProtKB/Swiss-Prot Function:
Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.

Phenotypes From GWAS Catalog for BFAR Gene

Gene Ontology (GO) - Molecular Function for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21068390
GO:0030674 protein binding, bridging IDA 10716992
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IDA 21068390
GO:0089720 caspase binding IDA 10716992
genes like me logo Genes that share ontologies with BFAR: view
genes like me logo Genes that share phenotypes with BFAR: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BFAR

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BFAR Gene

Localization for BFAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFAR Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 BFAR gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 3
extracellular 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21068390
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane NAS 10716992
GO:0016020 membrane IEA,IDA 10716992
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BFAR: view

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

Pathways & Interactions for BFAR Gene

No Data Available

SIGNOR curated interactions for BFAR Gene

Inactivates:

Gene Ontology (GO) - Biological Process for BFAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 21068390
GO:0006915 apoptotic process IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 21068390
GO:0043066 negative regulation of apoptotic process IDA 10716992
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA 21068390
genes like me logo Genes that share ontologies with BFAR: view

No data available for Pathways by source for BFAR Gene

Drugs & Compounds for BFAR Gene

No Compound Related Data Available

Transcripts for BFAR Gene

Unigene Clusters for BFAR Gene

Bifunctional apoptosis regulator:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - - -
SP5: - -
SP6: - - - - -
SP7: - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: -

Relevant External Links for BFAR Gene

GeneLoc Exon Structure for
BFAR
ECgene alternative splicing isoforms for
BFAR

Expression for BFAR Gene

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

Protein differential expression in normal tissues from HIPED for BFAR Gene

This gene is overexpressed in CD4 Tcells (60.1) and Heart (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BFAR Gene



Protein tissue co-expression partners for BFAR Gene

NURSA nuclear receptor signaling pathways regulating expression of BFAR Gene:

BFAR

SOURCE GeneReport for Unigene cluster for BFAR Gene:

Hs.435556

mRNA Expression by UniProt/SwissProt for BFAR Gene:

Q9NZS9-BFAR_HUMAN
Tissue specificity: Expressed highly in brain, moderately in small intestine, weakly in testes and only faintly in liver and skeletal muscle. Not expressed in heart, kidney, lung and spleen.

Evidence on tissue expression from TISSUES for BFAR Gene

  • Intestine(5)
  • Lung(4.3)
  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with BFAR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BFAR Gene

Orthologs for BFAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for BFAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BFAR 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia BFAR 33 34
  • 89.93 (n)
cow
(Bos Taurus)
Mammalia BFAR 33 34
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia BFAR 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bfar 33
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Bfar 33 16 34
  • 86.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves BFAR 33 34
  • 75.82 (n)
lizard
(Anolis carolinensis)
Reptilia BFAR 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bfar 33
  • 72.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2931 33
Species where no ortholog for BFAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for BFAR Gene

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

Paralogs for BFAR Gene

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

No data available for Paralogs for BFAR Gene

Variants for BFAR Gene

Sequence variations from dbSNP and Humsavar for BFAR Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000083127 -- 14,638,760(+) GGCCA(A/G)CGTGG intron-variant
rs1000183091 -- 14,659,239(+) GTTTT(G/T)TTTTG intron-variant
rs1000199007 -- 14,636,997(+) ACAGC(A/T)TCTCA intron-variant
rs1000206553 -- 14,668,880(+) ATAGT(C/T)GTTTT utr-variant-3-prime
rs1000241805 -- 14,647,765(+) TTACT(A/G)TTTTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2738n100 CNV gain 25217958
esv2758632 CNV gain+loss 17122850
nsv1134503 CNV deletion 24896259
nsv1138416 CNV deletion 24896259
nsv1740 CNV deletion 18451855
nsv833144 CNV gain 17160897

Variation tolerance for BFAR Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.62; 86.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BFAR Gene

Human Gene Mutation Database (HGMD)
BFAR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BFAR

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

Disorders for BFAR Gene

Relevant External Links for BFAR

Genetic Association Database (GAD)
BFAR
Human Genome Epidemiology (HuGE) Navigator
BFAR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BFAR

No disorders were found for BFAR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BFAR Gene

Publications for BFAR Gene

  1. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PMID: 14502241) Roth W … Reed JC (Cell death and differentiation 2003) 3 4 22 60
  2. BAR: An apoptosis regulator at the intersection of caspases and Bcl-2 family proteins. (PMID: 10716992) Zhang H … Reed JC (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 60
  3. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. (PMID: 20523265) Liu X … Yang Z (Retina (Philadelphia, Pa.) 2010) 3 45 60
  4. Over-expression of a modified bifunctional apoptosis regulator protects against cardiac injury and doxorubicin-induced cardiotoxicity in transgenic mice. (PMID: 18805781) Chua CC … Chua BH (Cardiovascular research 2009) 3 22 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for BFAR Gene

Sources for BFAR Gene

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