BCL2A1 (BCL2 related protein A1) - Rat Genome Database
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Gene: BCL2A1 (BCL2 related protein A1) Homo sapiens
Analyze
Symbol: BCL2A1
Name: BCL2 related protein A1
RGD ID: 733985
HGNC Page HGNC
Description: Predicted to have BH domain binding activity. Predicted to be involved in negative regulation of apoptotic process.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACC-1; ACC-2; ACC1; ACC2; bcl-2-like protein 5; bcl-2-related protein A1; bcl2-L-5; BCL2-related protein A1; BCL2L5; BFL1; GRS; HBPA1; hematopoietic BCL2-related protein A1; hemopoietic-specific early response protein; protein BFL-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1579,960,892 - 79,971,196 (-)EnsemblGRCh38hg38GRCh38
GRCh381579,960,892 - 79,971,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371580,253,234 - 80,263,538 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361578,040,290 - 78,050,698 (-)NCBINCBI36hg18NCBI36
Build 341578,040,289 - 78,050,698NCBI
Celera1557,189,526 - 57,199,937 (-)NCBI
Cytogenetic Map15q25.1NCBI
HuRef1557,011,277 - 57,021,688 (-)NCBIHuRef
CHM1_11580,370,121 - 80,380,532 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-demecolcine  (EXP)
(S)-nicotine  (EXP)
1'-acetoxychavicol acetate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
2-naphthylamine  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
4-nitroquinoline N-oxide  (ISO)
6alpha-methylprednisolone  (EXP)
acetamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
bathocuproine disulfonic acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon monoxide  (EXP)
carbon nanotube  (EXP)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
curcumin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dichloromethane  (EXP)
diclofenac  (EXP)
diethyl maleate  (ISO)
diosgenin  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
eriodictyol  (EXP)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
Evodiamine  (EXP)
fenofibrate  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
furan  (ISO)
Fusarenone X  (ISO)
gentamycin  (ISO)
glycochenodeoxycholic acid  (ISO)
glyphosate  (EXP)
guggulsterone  (EXP)
indole-3-methanol  (EXP)
indometacin  (EXP)
ionomycin  (EXP)
iron(2+) sulfate (anhydrous)  (EXP)
isoflurane  (ISO)
kaempferol  (EXP)
kojic acid  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP,ISO)
lonafarnib  (EXP)
LY294002  (ISO)
maneb  (EXP)
melphalan  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylseleninic acid  (EXP)
Mitotane  (ISO)
N-(6-acetamidohexyl)acetamide  (EXP)
naphthalenes  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP)
o-xylene  (EXP)
ochratoxin A  (ISO)
oxycodone  (ISO)
paracetamol  (ISO)
paraquat  (EXP)
pentanal  (EXP)
peptidoglycan  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(I:C)  (ISO)
prednisolone  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
protein kinase inhibitor  (EXP)
pyridaben  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
romidepsin  (EXP)
silicon dioxide  (EXP,ISO)
simazine  (ISO)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamibarotene  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (EXP)
topotecan  (ISO)
Tributyltin oxide  (EXP)
trichloroethene  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
undecane  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
withaferin A  (EXP)
zerumbone  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7478596   PMID:8345191   PMID:8589678   PMID:8605321   PMID:8910286   PMID:8952545   PMID:9050999   PMID:9321477   PMID:9356461   PMID:9670936   PMID:9731710   PMID:10049353  
PMID:10198631   PMID:10381646   PMID:10430908   PMID:10454539   PMID:10545479   PMID:10753914   PMID:10849436   PMID:11329013   PMID:11483855   PMID:11696595   PMID:11929871   PMID:12477932  
PMID:12665576   PMID:12692420   PMID:12771180   PMID:14747545   PMID:14966372   PMID:14981542   PMID:15489334   PMID:15499630   PMID:15501771   PMID:15592513   PMID:15617521   PMID:15694340  
PMID:15696550   PMID:16164629   PMID:16551634   PMID:16572199   PMID:16697956   PMID:16873269   PMID:17121585   PMID:17428862   PMID:17666431   PMID:17724464   PMID:17726463   PMID:17907802  
PMID:17942758   PMID:18093280   PMID:18206119   PMID:18414982   PMID:18512730   PMID:18812174   PMID:18835031   PMID:19336552   PMID:19573080   PMID:19759007   PMID:19773279   PMID:19913121  
PMID:20185581   PMID:20353833   PMID:20628086   PMID:20800603   PMID:20855536   PMID:21167304   PMID:21491422   PMID:21832049   PMID:21843371   PMID:21873635   PMID:22231730   PMID:22292048  
PMID:22510878   PMID:22553204   PMID:22615379   PMID:22720045   PMID:22745672   PMID:22865454   PMID:23118966   PMID:23152563   PMID:23447565   PMID:23480177   PMID:23841872   PMID:24810636  
PMID:25416956   PMID:25486183   PMID:27107012   PMID:27386628   PMID:29276033   PMID:30042493   PMID:30560933   PMID:30773399   PMID:30816537   PMID:31003775   PMID:31300747   PMID:31515488  
PMID:32296183   PMID:32661419  


Genomics

Comparative Map Data
BCL2A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1579,960,892 - 79,971,196 (-)EnsemblGRCh38hg38GRCh38
GRCh381579,960,892 - 79,971,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371580,253,234 - 80,263,538 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361578,040,290 - 78,050,698 (-)NCBINCBI36hg18NCBI36
Build 341578,040,289 - 78,050,698NCBI
Celera1557,189,526 - 57,199,937 (-)NCBI
Cytogenetic Map15q25.1NCBI
HuRef1557,011,277 - 57,021,688 (-)NCBIHuRef
CHM1_11580,370,121 - 80,380,532 (-)NCBICHM1_1
Bcl2a1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39989,081,326 - 89,089,891 (+)NCBIGRCm39mm39
GRCm39 Ensembl989,081,262 - 89,089,880 (+)Ensembl
GRCm38989,199,273 - 89,207,838 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl989,199,209 - 89,207,827 (+)EnsemblGRCm38mm10GRCm38
MGSCv37989,094,111 - 89,102,676 (+)NCBIGRCm37mm9NCBIm37
MGSCv36988,997,122 - 89,005,719 (+)NCBImm8
Celera987,568,132 - 87,573,632 (-)NCBICelera
Cytogenetic Map9E3.1NCBI
Bcl2a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2889,716,914 - 89,724,998 (+)NCBI
Rnor_6.0 Ensembl896,551,245 - 96,559,483 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0896,551,424 - 96,559,527 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0896,059,040 - 96,067,299 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4894,045,109 - 94,053,777 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1894,064,563 - 94,073,232 (+)NCBI
Celera889,278,398 - 89,286,468 (+)NCBICelera
Cytogenetic Map8q31NCBI
Bcl2a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955533773,912 - 785,037 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955533773,912 - 785,040 (-)NCBIChiLan1.0ChiLan1.0
BCL2A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11577,884,030 - 77,893,167 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1577,882,940 - 77,893,628 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01558,925,853 - 58,935,122 (-)NCBIMhudiblu_PPA_v0panPan3
BCL2A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl357,424,555 - 57,463,692 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1357,451,512 - 57,463,692 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Bcl2a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647137,981,851 - 37,993,097 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCL2A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl748,887,094 - 48,897,870 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1748,887,227 - 48,897,667 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2754,395,262 - 54,419,816 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCL2A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1263,451,773 - 3,461,215 (+)NCBI
ChlSab1.1 Ensembl263,451,873 - 3,461,180 (+)Ensembl
Bcl2a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624941907,382 - 932,751 (-)NCBI

Position Markers
SHGC-64943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,191,288 - 80,191,444UniSTSGRCh37
Build 361577,978,343 - 77,978,499RGDNCBI36
Celera1557,127,594 - 57,127,750RGD
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q24.3UniSTS
HuRef1556,949,384 - 56,949,540UniSTS
TNG Radiation Hybrid Map1531027.0UniSTS
D10S1618E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,253,345 - 80,253,444UniSTSGRCh37
Build 361578,040,400 - 78,040,499RGDNCBI36
Celera1557,189,639 - 57,189,738RGD
Cytogenetic Map15q24.3UniSTS
HuRef1557,011,390 - 57,011,489UniSTS
SHGC-35552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,253,260 - 80,253,409UniSTSGRCh37
Build 361578,040,315 - 78,040,464RGDNCBI36
Celera1557,189,554 - 57,189,703RGD
Cytogenetic Map15q24.3UniSTS
HuRef1557,011,305 - 57,011,454UniSTS
Stanford-G3 RH Map152869.0UniSTS
GeneMap99-GB4 RH Map15277.54UniSTS
Whitehead-RH Map15301.9UniSTS
NCBI RH Map15528.8UniSTS
GeneMap99-G3 RH Map152864.0UniSTS
STS-U27467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,253,336 - 80,253,490UniSTSGRCh37
GRCh371580,191,286 - 80,191,441UniSTSGRCh37
Build 361577,978,341 - 77,978,496RGDNCBI36
Celera1557,189,630 - 57,189,784UniSTS
Celera1557,127,592 - 57,127,747RGD
Cytogenetic Map15q24.3UniSTS
Cytogenetic Map15q25.1UniSTS
HuRef1556,949,382 - 56,949,537UniSTS
HuRef1557,011,381 - 57,011,535UniSTS
GeneMap99-GB4 RH Map15276.09UniSTS
PMC97140P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,263,120 - 80,263,434UniSTSGRCh37
Build 361578,050,175 - 78,050,489RGDNCBI36
Celera1557,199,414 - 57,199,728RGD
Cytogenetic Map15q24.3UniSTS
HuRef1557,021,165 - 57,021,479UniSTS
RH68628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,253,337 - 80,253,490UniSTSGRCh37
GRCh371580,191,287 - 80,191,441UniSTSGRCh37
Build 361577,978,342 - 77,978,496RGDNCBI36
Celera1557,189,631 - 57,189,784UniSTS
Celera1557,127,593 - 57,127,747RGD
Cytogenetic Map15q24.3UniSTS
Cytogenetic Map15q25.1UniSTS
HuRef1556,949,383 - 56,949,537UniSTS
HuRef1557,011,382 - 57,011,535UniSTS
GeneMap99-GB4 RH Map15275.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:240
Count of miRNA genes:153
Interacting mature miRNAs:155
Transcripts:ENST00000267953, ENST00000335661
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 10 1 1
Medium 187 928 149 82 1652 66 238 38 124 69 132 759 17 382 35 1
Low 1520 1546 1430 494 220 365 2649 1058 2222 289 978 673 135 1 815 1681 2 2
Below cutoff 641 490 137 41 46 25 1296 1018 1272 51 304 93 19 7 1020

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF479683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY234180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG198875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG204033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG216703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD640106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ081729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U27467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U29680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000267953   ⟹   ENSP00000267953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1579,960,892 - 79,971,196 (-)Ensembl
RefSeq Acc Id: ENST00000335661   ⟹   ENSP00000335250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1579,960,892 - 79,971,169 (-)Ensembl
RefSeq Acc Id: ENST00000677151   ⟹   ENSP00000504466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1579,970,541 - 79,971,196 (-)Ensembl
RefSeq Acc Id: NM_001114735   ⟹   NP_001108207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,960,892 - 79,971,196 (-)NCBI
GRCh371580,253,232 - 80,263,643 (-)ENTREZGENE
HuRef1557,011,277 - 57,021,688 (-)ENTREZGENE
CHM1_11580,370,121 - 80,380,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004049   ⟹   NP_004040
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,960,892 - 79,971,196 (-)NCBI
GRCh371580,253,232 - 80,263,643 (-)ENTREZGENE
Build 361578,040,290 - 78,050,698 (-)NCBI Archive
HuRef1557,011,277 - 57,021,688 (-)ENTREZGENE
CHM1_11580,370,121 - 80,380,532 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004040   ⟸   NM_004049
- Peptide Label: isoform 1
- UniProtKB: Q16548 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001108207   ⟸   NM_001114735
- Peptide Label: isoform 2
- UniProtKB: Q16548 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000267953   ⟸   ENST00000267953
RefSeq Acc Id: ENSP00000335250   ⟸   ENST00000335661
RefSeq Acc Id: ENSP00000504466   ⟸   ENST00000677151

Promoters
RGD ID:6792119
Promoter ID:HG_KWN:22076
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001114735,   OTTHUMT00000291372
Position:
Human AssemblyChrPosition (strand)Source
Build 361578,050,291 - 78,050,791 (-)MPROMDB
RGD ID:7230277
Promoter ID:EPDNEW_H20885
Type:initiation region
Name:BCL2A1_1
Description:BCL2 related protein A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20886  EPDNEW_H20888  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,971,183 - 79,971,243EPDNEW
RGD ID:7230281
Promoter ID:EPDNEW_H20886
Type:multiple initiation site
Name:BCL2A1_3
Description:BCL2 related protein A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20885  EPDNEW_H20888  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,971,326 - 79,971,386EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3 copy number gain See cases [RCV000052107] Chr15:79552851..80526230 [GRCh38]
Chr15:79845193..80818571 [GRCh37]
Chr15:77632248..78605626 [NCBI36]
Chr15:15q25.1
uncertain significance
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1
pathogenic|uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 copy number gain not provided [RCV000683712] Chr15:79023343..87158823 [GRCh37]
Chr15:15q25.1-25.3
pathogenic
GRCh37/hg19 15q25.1(chr15:80137560-80443036)x3 copy number gain not provided [RCV000738849] Chr15:80137560..80443036 [GRCh37]
Chr15:15q25.1
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_004049.4(BCL2A1):c.99G>A (p.Thr33=) single nucleotide variant not provided [RCV000884061] Chr15:79971021 [GRCh38]
Chr15:80263363 [GRCh37]
Chr15:15q25.1
benign
NM_004049.4(BCL2A1):c.421-8T>G single nucleotide variant not provided [RCV000893826] Chr15:79961182 [GRCh38]
Chr15:80253524 [GRCh37]
Chr15:15q25.1
benign
GRCh37/hg19 15q25.1(chr15:79679772-80383301)x3 copy number gain not provided [RCV001259713] Chr15:79679772..80383301 [GRCh37]
Chr15:15q25.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:991 AgrOrtholog
COSMIC BCL2A1 COSMIC
Ensembl Genes ENSG00000140379 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000267953 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000335250 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000267953 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000335661 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.437.10 UniProtKB/Swiss-Prot
GTEx ENSG00000140379 GTEx
HGNC ID HGNC:991 ENTREZGENE
Human Proteome Map BCL2A1 Human Proteome Map
InterPro Bcl2-like UniProtKB/Swiss-Prot
  Bcl2_BH1_motif_CS UniProtKB/Swiss-Prot
  Bcl2_BH2_motif_CS UniProtKB/Swiss-Prot
  Bcl2A1 UniProtKB/Swiss-Prot
  Blc2-like_sf UniProtKB/Swiss-Prot
  Blc2_fam UniProtKB/Swiss-Prot
KEGG Report hsa:597 UniProtKB/Swiss-Prot
NCBI Gene 597 ENTREZGENE
OMIM 601056 OMIM
PANTHER PTHR11256 UniProtKB/Swiss-Prot
  PTHR11256:SF10 UniProtKB/Swiss-Prot
Pfam Bcl-2 UniProtKB/Swiss-Prot
PharmGKB PA25303 PharmGKB
PRINTS BCL2FAMILY UniProtKB/Swiss-Prot
  BCL2RLATEDA1 UniProtKB/Swiss-Prot
PROSITE BCL2_FAMILY UniProtKB/Swiss-Prot
  BH1 UniProtKB/Swiss-Prot
  BH2 UniProtKB/Swiss-Prot
SMART BCL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56854 UniProtKB/Swiss-Prot
UniProt B2LA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6FGZ4 UniProtKB/Swiss-Prot
  Q6FH19 UniProtKB/Swiss-Prot
  Q86W13 UniProtKB/Swiss-Prot
  Q99524 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 BCL2A1  BCL2 related protein A1    BCL2-related protein A1  Symbol and/or name change 5135510 APPROVED
2011-08-16 BCL2A1  BCL2-related protein A1  BCL2A1  BCL2-related protein A1  Symbol and/or name change 5135510 APPROVED