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The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have be... See more...
Aliases for BCL2L14 Gene
Aliases for BCL2L14 Gene
External Ids for BCL2L14 Gene
- HGNC: 16657
- Entrez Gene: 79370
- Ensembl: ENSG00000121380
- OMIM: 606126
- UniProtKB: Q9BZR8
Previous GeneCards Identifiers for BCL2L14 Gene
- GC12P012115
- GC12P011989
- GC12P012202
Summaries for BCL2L14 Gene
-
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
GeneCards Summary for BCL2L14 Gene
BCL2L14 (BCL2 Like 14) is a Protein Coding gene. Among its related pathways are TP53 Regulates Transcription of Cell Death Genes and Regulation of Apoptosis by Parathyroid Hormone-related Protein. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is BCL2L12.
UniProtKB/Swiss-Prot Summary for BCL2L14 Gene
-
Plays a role in apoptosis.
Additional gene information for BCL2L14 Gene
- HGNC(16657)
- Entrez Gene(79370)
- Ensembl(ENSG00000121380)
- OMIM(606126)
- UniProtKB(Q9BZR8)
- Open Targets Platform(ENSG00000121380)
- Search for BCL2L14 at DataMed
- Search for BCL2L14 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL2L14 Gene
Genomics for BCL2L14 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BCL2L14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BCL2L14 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL2L14
- Top Transcription factor binding sites by QIAGEN in the BCL2L14 gene promoter:
-
- IRF-1
Genomic Locations for BCL2L14 Gene
Genomic Locations for BCL2L14 Gene
- chr12:12,049,844-12,211,084
- (GRCh38/hg38)
- Size:
- 161,241 bases
- Orientation:
- Plus strand
- chr12:12,202,778-12,364,018
- (GRCh37/hg19)
- Size:
- 161,241 bases
- Orientation:
- Plus strand
Genomic View for BCL2L14 Gene
Genes around BCL2L14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.2 by HGNC
- 12p13.2 by Entrez Gene
- 12p13.2 by Ensembl
BCL2L14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BCL2L14 Gene
Proteins for BCL2L14 Gene
-
Protein details for BCL2L14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BZR8-B2L14_HUMAN
- Recommended name:
- Apoptosis facilitator Bcl-2-like protein 14
- Protein Accession:
- Q9BZR8
- A8KAD0
- Q96QR5
- Q9BZR7
Protein attributes for BCL2L14 Gene
- Size:
- 327 amino acids
- Molecular mass:
- 36598 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for BCL2L14 Gene
Post-translational modifications for BCL2L14 Gene
- Phosphorylated by MELK, leading to inhibit its pro-apoptotic function.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for BCL2L14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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Quality Products:
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Abcam proteins for BCL2L14
No data available for DME Specific Peptides for BCL2L14 Gene
Domains & Families for BCL2L14 Gene
Gene Families for BCL2L14 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for BCL2L14 Gene
- InterPro:
- Blocks:
-
- Apoptosis regulator Bcl-2 protein, BH
- ProtoNet:
Suggested Antigen Peptide Sequences for BCL2L14 Gene
- GenScript: Design optimal peptide antigens:
-
- Apoptosis regulator Bcl-G (B2L14_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BZR8- Family:
-
- Belongs to the Bcl-2 family.
Function for BCL2L14 Gene
Molecular function for BCL2L14 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in apoptosis.
Phenotypes From GWAS Catalog for BCL2L14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11054413 |
| GO:0019901 | protein kinase binding | IPI | 17280616 |
Phenotypes for BCL2L14 Gene
- GenomeRNAi human phenotypes for BCL2L14:
-
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased viability with neratinib
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased IL-8 secretion
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased cell number
- No cells
Animal Model Products
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CRISPR Products
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCL2L14 Gene
Localization for BCL2L14 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BCL2L14 Gene
- Cytoplasm.
- [Isoform 1]: Cytoplasm, cytosol. Note=Diffusely distributed throughout the cytosol.
- [Isoform 2]: Endomembrane system. Note=Predominantly localized to cytosolic organelles.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0012505 | endomembrane system | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0043229 | intracellular organelle | IDA | 11054413 |
Pathways & Interactions for BCL2L14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gene Expression |
.48
|
|
| 2 | TP53 Regulates Transcription of Cell Death Genes | ||
| 3 | Regulation of TP53 Activity | ||
| 4 | Direct p53 effectors | ||
| 5 | Regulation of Apoptosis by Parathyroid Hormone-related Protein | ||
Pathways by source for BCL2L14 Gene
2 BioSystems pathways for BCL2L14 Gene
Interacting Proteins for BCL2L14 Gene
Selected Interacting proteins:
Q9BZR8-B2L14_HUMAN
ENSP00000309132
for BCL2L14 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BCL2L14
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006915 | apoptotic process | IEA,IDA | 17280616 |
| GO:0042981 | regulation of apoptotic process | TAS | -- |
| GO:2001236 | regulation of extrinsic apoptotic signaling pathway | IBA | 21873635 |
No data available for SIGNOR curated interactions for BCL2L14 Gene
Transcripts for BCL2L14 Gene
mRNA/cDNA for BCL2L14 Gene
- 6 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000589718 1850 nts (view in UCSC)
- ENST00000591235 546 nts (view in UCSC)
- ENST00000586576 1927 nts (view in UCSC)
- ENST00000545463 574 nts (view in UCSC)
- ENST00000484949 1320 nts (view in UCSC)
CRISPR Products
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- RR205191
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||
| SP6: | - |
Relevant External Links for BCL2L14 Gene
- GeneLoc Exon Structure for
- BCL2L14
Expression for BCL2L14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Intestine (Gastrointestinal Tract)
-
Colon (Gastrointestinal Tract)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for BCL2L14 Gene
This gene is overexpressed in Testis (x19.7), Colon - Transverse (x10.8), Small Intestine - Terminal Ileum (x5.2), and Stomach (x5.0).
This gene is overexpressed in Platelet (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BCL2L14 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL2L14
SOURCE GeneReport for Unigene cluster for BCL2L14 Gene:
Hs.210343mRNA Expression by UniProt/SwissProt for BCL2L14 Gene:
Q9BZR8-B2L14_HUMAN
Tissue specificity:
Isoform 1 is widely expressed. Isoform 2 is testis-specific.
Evidence on tissue expression from TISSUES for BCL2L14 Gene
- Pancreas(4.3)
Primer Products
-
OriGene qPCR primer pairs for BCL2L14
-
OriGene qPCR primer pairs and template standards for BCL2L14
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2L14 Gene
Orthologs for BCL2L14 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BCL2L14 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BCL2L14 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BCL2L14 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bcl2l14 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bcl2l14 30 |
|
||
| Chicken (Gallus gallus) |
Aves | BCL2L14 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101732952 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CABZ01020840.1 31 |
|
OneToOne |
- Species where no ortholog for BCL2L14 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 BCL2L14 Gene
- ENSEMBL:
- Gene Tree for BCL2L14 (if available)
- TreeFam:
- Gene Tree for BCL2L14 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BCL2L14: view image
Paralogs for BCL2L14 Gene
Variants for BCL2L14 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL2L14 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 775306 | Benign: not provided | 12,079,512(+) | G/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2676351 | CNV | deletion | 23128226 |
| esv3628598 | CNV | loss | 21293372 |
| esv7410 | CNV | loss | 19470904 |
| nsv1046355 | CNV | loss | 25217958 |
| nsv557583 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.19;
69.70% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BCL2L14 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BCL2L14
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2L14 Gene
Disorders for BCL2L14 Gene
Additional Disease Information for BCL2L14
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No disorders were found for BCL2L14 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BCL2L14 Gene
Publications for BCL2L14 Gene
- Bcl-G, a novel pro-apoptotic member of the Bcl-2 family. (PMID: 11054413) Guo B … Reed JC (The Journal of biological chemistry 2001) 2 3 4
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 41
- Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly JL … Cerhan JR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41
ExternalLinks
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- VectorBuilder Stable cell line generation for BCL2L14
- antibodies-online: Show 13 available BCL2L14 Antibodies ranked by validation data
- Compare Top BCL2L14 Antibodies
- antibodies-online: Search results for available BCL2L14 related products ranked by validation data
- antibodies-online: Show 7 available BCL2L14 Proteins ranked by validation data
- Compare Top BCL2L14 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for BCL2L14
- Search Santa Cruz Biotechnology (SCBT) for BCL2L14 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BCL2L14
- Custom Antibody ServicesProSci Antibodies for BCL2L14
- Search for BCL2L14 Proteins at ProSci
- Horizon Cell Lines for BCL2L14
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCL2L14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCL2L14
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BCL2L14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL2L14
- Boster Bio Antibodies for BCL2L14
- Browse Boster Bio ELISA Kits
Sources for BCL2L14 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB