Gene Gene information from NCBI Gene database.
Entrez ID 51283
Gene name Bifunctional apoptosis regulator
Gene symbol BFAR
Synonyms (NCBI Gene)
BARRNF47
Chromosome 16
Chromosome location 16p13.12
miRNA miRNA information provided by mirtarbase database.
317
miRTarBase ID miRNA Experiments Reference
MIRT020378 hsa-miR-29c-3p Sequencing 20371350
MIRT027003 hsa-miR-103a-3p Sequencing 20371350
MIRT027411 hsa-miR-98-5p Microarray 19088304
MIRT031448 hsa-miR-16-5p Sequencing 20371350
MIRT049808 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 21068390
GO:0005515 Function Protein binding IPI 21068390, 32296183, 32814053
GO:0005783 Component Endoplasmic reticulum IDA 21068390
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619516 17613 ENSG00000103429
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZS9
Protein name Bifunctional apoptosis regulator (EC 2.3.2.27) (RING finger protein 47)
Protein function Membrane-bound E3 ubiquitin ligase that plays a role in several processes including apoptosis regulation or reticulum endoplasmic stress (PubMed:14502241, PubMed:21068390). Has anti-apoptotic activity, both for apoptosis triggered via death-rece
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15227 zf-C3HC4_4 34 73 Domain
PF00536 SAM_1 180 247 SAM domain (Sterile alpha motif) Domain
Tissue specificity 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. {ECO:0000269|PubMed:10716992, ECO:0000269|PubMed:14502241}.
Sequence
MEEPQKSYVNTMDLERDEPLKSTGPQISVSEFSCHCCYDILVNPTTLNCGHSFCRHCLAL
WWASSKKTECPEC
REKWEGFPKVSILLRDAIEKLFPDAIRLRFEDIQQNNDIVQSLAAFQ
KYGNDQIPLAPNTGRANQQMGGGFFSGVLTALTGVAVVLLVYHWSSRESEHDLLVHKAVA
KWTAEEVVLWLEQLGPWASLYRERFLSERVNGRLLLTLTEEEFSKTPYTIENSSHRRAIL
MELERVK
ALGVKPPQNLWEYKAVNPGRSLFLLYALKSSPRLSLLYLYLFDYTDTFLPFIH
TICPLQEDSSGEDIVTKLLDLKEPTWKQWREFLVKYSFLPYQLIAEFAWDWLEVHYWTSR
FLIINAMLLSVLELFSFWRIWSRSELKTVPQRMWSHFWKVSTQGLFVAMFWPLIPQFVCN
CLFYWALYFNPIINIDLVVKELRRLETQVL
Sequence length 450
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21525435, 24025864
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 19920191, 30268789
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 20619465
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 23644527
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 31043634
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 21565989, 9709965
★☆☆☆☆
Found in Text Mining only
Erythema Multiforme Erythema BEFREE 30467994
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 32483702 Associate
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 28711716 Associate
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 28711716 Associate
★☆☆☆☆
Found in Text Mining only