This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of diff... See more...

Aliases for BCL2L12 Gene

Aliases for BCL2L12 Gene

  • BCL2 Like 12 2 3 5
  • BCL2-Like 12 (Proline Rich) 2 3
  • Bcl-2-Like Protein 12 3 4
  • Bcl-2 Related Proline-Rich Protein 3
  • Bcl-2-Related Proline-Rich Protein 4
  • Bcl2-L-12 4
  • BPR 4

External Ids for BCL2L12 Gene

Previous GeneCards Identifiers for BCL2L12 Gene

  • GC19P050826
  • GC19P050536
  • GC19P054844
  • GC19P054860
  • GC19P050168
  • GC19P046545

Summaries for BCL2L12 Gene

Entrez Gene Summary for BCL2L12 Gene

  • This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for BCL2L12 Gene

BCL2L12 (BCL2 Like 12) is a Protein Coding gene. Diseases associated with BCL2L12 include Autoimmune Lymphoproliferative Syndrome, Type Iii and Laryngeal Benign Neoplasm. Among its related pathways are Regulation of Apoptosis by Parathyroid Hormone-related Protein. Gene Ontology (GO) annotations related to this gene include p53 binding. An important paralog of this gene is BCL2L14.

Gene Wiki entry for BCL2L12 Gene

Additional gene information for BCL2L12 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL2L12 Gene

Genomics for BCL2L12 Gene

GeneHancer (GH) Regulatory Elements for BCL2L12 Gene

Promoters and enhancers for BCL2L12 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 BCL2L12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL2L12

Top Transcription factor binding sites by QIAGEN in the BCL2L12 gene promoter:
  • COUP-TF
  • NF-kappaB
  • NF-kappaB1
  • p300
  • p53
  • STAT1

Genomic Locations for BCL2L12 Gene

Genomic Locations for BCL2L12 Gene
chr19:49,665,142-49,673,916
(GRCh38/hg38)
Size:
8,775 bases
Orientation:
Plus strand
chr19:50,168,399-50,177,173
(GRCh37/hg19)
Size:
8,775 bases
Orientation:
Plus strand

Genomic View for BCL2L12 Gene

Genes around BCL2L12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2L12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2L12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L12 Gene

Proteins for BCL2L12 Gene

  • Protein details for BCL2L12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB09-B2L12_HUMAN
    Recommended name:
    Bcl-2-like protein 12
    Protein Accession:
    Q9HB09
    Secondary Accessions:
    • Q3SY11
    • Q3SY13
    • Q96I96
    • Q9HB08

    Protein attributes for BCL2L12 Gene

    Size:
    334 amino acids
    Molecular mass:
    36821 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for BCL2L12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2L12 Gene

Post-translational modifications for BCL2L12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BCL2L12 Gene

Domains & Families for BCL2L12 Gene

Gene Families for BCL2L12 Gene

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

Protein Domains for BCL2L12 Gene

Blocks:
  • Apoptosis regulator Bcl-2 protein, BH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCL2L12 Gene

GenScript: Design optimal peptide antigens:
  • Bcl-2-related proline-rich protein (B2L12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HB09

UniProtKB/Swiss-Prot:

B2L12_HUMAN :
  • Belongs to the Bcl-2 family.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L12: view

Function for BCL2L12 Gene

Phenotypes From GWAS Catalog for BCL2L12 Gene

Gene Ontology (GO) - Molecular Function for BCL2L12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IEA --
genes like me logo Genes that share ontologies with BCL2L12: view
genes like me logo Genes that share phenotypes with BCL2L12: view

Animal Models for BCL2L12 Gene

MGI Knock Outs for BCL2L12:

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL2L12 Gene

Localization for BCL2L12 Gene

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 BCL2L12 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCL2L12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20837658
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with BCL2L12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BCL2L12 Gene

Pathways & Interactions for BCL2L12 Gene

genes like me logo Genes that share pathways with BCL2L12: view

Pathways by source for BCL2L12 Gene

SIGNOR curated interactions for BCL2L12 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BCL2L12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0042981 regulation of apoptotic process IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 22262180
GO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA --
GO:1990001 inhibition of cysteine-type endopeptidase activity involved in apoptotic process IDA 22262180
genes like me logo Genes that share ontologies with BCL2L12: view

Drugs & Compounds for BCL2L12 Gene

No Compound Related Data Available

Transcripts for BCL2L12 Gene

mRNA/cDNA for BCL2L12 Gene

7 REFSEQ mRNAs :
65 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L12 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1:
SP2:
SP3: -
SP4: - -
SP5: - -
SP6:

Relevant External Links for BCL2L12 Gene

GeneLoc Exon Structure for
BCL2L12

Expression for BCL2L12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCL2L12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCL2L12 Gene

This gene is overexpressed in Bone (49.8) and Breast (19.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL2L12 Gene



Protein tissue co-expression partners for BCL2L12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL2L12

SOURCE GeneReport for Unigene cluster for BCL2L12 Gene:

Hs.289052

mRNA Expression by UniProt/SwissProt for BCL2L12 Gene:

Q9HB09-B2L12_HUMAN
Tissue specificity: Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for BCL2L12 Gene

  • Liver(4.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with BCL2L12: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2L12 Gene

Orthologs for BCL2L12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2L12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL2L12 31 30
  • 98.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BCL2L12 31 30
  • 88.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2L12 31 30
  • 87.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl2l12 30
  • 82.67 (n)
mouse
(Mus musculus)
Mammalia Bcl2l12 17 31 30
  • 80.53 (n)
lizard
(Anolis carolinensis)
Reptilia BCL2L12 31
  • 31 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BCL2L12 31
  • 24 (a)
OneToOne
Species where no ortholog for BCL2L12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCL2L12 Gene

ENSEMBL:
Gene Tree for BCL2L12 (if available)
TreeFam:
Gene Tree for BCL2L12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL2L12: view image

Paralogs for BCL2L12 Gene

Paralogs for BCL2L12 Gene

Pseudogenes.org Pseudogenes for BCL2L12 Gene

genes like me logo Genes that share paralogs with BCL2L12: view

Variants for BCL2L12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL2L12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1057519880 Likely Pathogenic: Squamous cell carcinoma of the skin; Malignant melanoma of skin 49,665,875(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs2060263 - p.Gly47Val

Additional dbSNP identifiers (rs#s) for BCL2L12 Gene

Structural Variations from Database of Genomic Variants (DGV) for BCL2L12 Gene

Variant ID Type Subtype PubMed ID
nsv1160655 CNV deletion 26073780
nsv469715 CNV gain+loss 16826518
nsv470150 CNV gain 18288195
nsv817854 CNV gain 17921354
nsv828578 CNV loss 20364138
nsv833864 CNV gain 17160897
nsv833865 CNV gain+loss 17160897
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for BCL2L12 Gene

Residual Variation Intolerance Score: 91.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2L12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2L12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2L12 Gene

Disorders for BCL2L12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BCL2L12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome, type iii
  • alps3
laryngeal benign neoplasm
  • laryngeal tumor
gliosarcoma
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BCL2L12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCL2L12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL2L12 Gene

Publications for BCL2L12 Gene

  1. Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family. (PMID: 11401436) Scorilas A … Diamandis EP (Genomics 2001) 3 4 23 54
  2. 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 54
  3. 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 54
  4. Molecular analysis and prognostic impact of the novel apoptotic gene BCL2L12 in gastric cancer. (PMID: 19903463) Florou D … Scorilas A (Biochemical and biophysical research communications 2010) 3 23 54
  5. Quantitative expression analysis and prognostic significance of the novel apoptosis-related gene BCL2L12 in colon cancer. (PMID: 18844453) Kontos CK … Scorilas A (Biological chemistry 2008) 3 23 54

Products for BCL2L12 Gene

Sources for BCL2L12 Gene