BCL2A1 (BCL2 related protein A1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 597
Gene name BCL2 related protein A1
Gene symbol BCL2A1
Synonyms (NCBI Gene)
ACC-1ACC-2ACC1ACC2BCL2L5BFL1GRSHBPA1
Chromosome 15
Chromosome location 15q25.1
Summary This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeosta
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT017218 hsa-miR-335-5p Microarray 18185580
MIRT021264 hsa-miR-146a-5p Microarray 18057241
MIRT818591 hsa-miR-182 CLIP-seq
MIRT818592 hsa-miR-3074-3p CLIP-seq
MIRT818593 hsa-miR-4704-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (7)
Transcription factor Regulation Reference
HDAC1 Activation 17000776
MITF Repression 23447565
NFKB1 Activation 11880364;12665576;19343319
NFKB1 Unknown 10733571;17000776
REL Activation 11880364
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Transcription factors Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IBA
GO:0005515 Function Protein binding IPI 10753914, 16697956, 17428862, 25416956, 31515488, 32296183, 34245648
GO:0005737 Component Cytoplasm IDA 34245648
GO:0005737 Component Cytoplasm IEA
GO:0005741 Component Mitochondrial outer membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
601056 991 ENSG00000140379
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16548
Protein name Bcl-2-related protein A1 (Bcl-2-like protein 5) (Bcl2-L-5) (Hemopoietic-specific early response protein) (Protein BFL-1) (Protein GRS)
Protein function Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in t
PDB 2VM6 , 3I1H , 3MQP , 4ZEQ , 5UUK , 5UUL , 5UUP , 5WHH , 5WHI , 6E3I , 6E3J , 6MBB , 6MBC , 6RJP , 6VO4 , 8RPO , 9FKY , 9FKZ , 9FL0 , 9GIP , 9GIQ , 9GIR , 9GIS , 9GIT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 37 → 140 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smoot
Sequence 
MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVN
VVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISY
FVAEFIMNNTGEWIRQNGGWENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC
Sequence length 175
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Other IDs Associated diseases
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)
Show/Hide Unknown Diseases (10)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (191)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 23517130, 24510998
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9494579
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 17353899, 28595732
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 24510998, 28179306, 31325906, 31513709
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 11074535, 14508795, 14978697, 15329491, 25730315, 3337900, 6255436, 6894931, 8781536 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 25730315 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 28011635 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 14978697, 24599433, 8781536 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 27909141
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic aneurysm Pubtator 2243125 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only