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FLASH GENE
Symbol BCL2L13 contributors: mct/npt - updated : 30/09/2008
HGNC name BCL2-like 13 (apoptosis facilitator)
HGNC id 17164
Location 22q11.2      Physical location : 18.121.484 - 18.211.987
Synonym name
  • MIL1 protein
  • mitochondria located 1 homolog
    • Synonym symbol(s) BCL-RAMBO, MIL1
    DNA
    TYPE functioning gene
    STRUCTURE 90.50 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see ATP6V1E
    Physical map
    ADPRTL4 22q11.1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 VWFP 22q11.22-q11.23 von Willebrand factor pseudogene MGC57211 22q11.21 hypothetical protein MGC57211 LOC391288 22 similar to zinc finger protein LOC391289 22 similar to GRB2-associated binding protein 2 isoform a; Grb2-associated binder 2 VN1R9P 22 vomeronasal 1 receptor 9 pseudogene LOC391290 22 similar to acetyl-Coenzyme A synthetase 3; medium-chain acyl-CoA synthetase; Butyrate CoA ligase IL17R 22q11.1 interleukin 17 receptor CECR6 22q11.2 cat eye syndrome chromosome region, candidate 6 CECR5 22q11.2 cat eye syndrome chromosome region, candidate 5 CECR1 22q11.2 cat eye syndrome chromosome region, candidate 1 RPL32L2 22q11.1 ribosomal protein L32-like 2 CLCP1 22q11.2 Charot-Leyden crystal protein pseudogene 1 CECR2 22q11.2 cat eye syndrome chromosome region, candidate 2 SLC25A18 22q11.2 solute carrier family 25, (mitochondrial carrier), member 18 ATP6V1E1 22q11.21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 BCL2L13 22q11.2 BCL2-like 13 (apoptosis facilitator) BID 22q11.21 BH3 interacting domain death agonist FLJ40542 22q11.21 hypothetical protein FLJ40542 LOC388843 22 LOC388843 KIAA0819 22q11.21 KIAA0819 protein MICAL3 22q11.21 flavoprotein oxidoreductase MICAL3 PEX26 22q11.21 peroxisome biogenesis factor 26 TUBA8 22q11 tubulin, alpha 8 USP18 22q11.21 ubiquitin specific protease 18 LOC391291 22 LOC391291 LOC388844 22 hypothetical gene supported by AK097777; AK128837; AK129567; BC040613 LOC220522 22q11.21 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding) LOC391294 22 similar to POM121 membrane glycoprotein-like 1 LOC343830 22q11.21 similar to carbonic anhydrase XV DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 LOC391295 22 similar to serine/threonine kinase FKSG81; spermiogenesis associated 4 STK22B 22q11.2 serine/threonine kinase 22B (spermiogenesis associated) DGCR14 22q11.21 DiGeorge syndrome critical region gene 14
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3367 52.7 485 - Olsen (2006)
    - splicing 1390 - 104 ubiquitous Yi (2003)
    lack exon 8
    - - - - 104 in lymph node, heart, and cervix but is absent in brain Yi (2003)
  • contains a 98 bp Alu-like sequence which acts as an exon
  • lacking of the BH1, BH2 and BH3 motifs and becomes a BH4-only protein
  • not to be associated with mitochondria due to the absence of its C-terminal membrane anchor region
  • having proapoptotic capability
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   highly
    Skin/Tegumentskin   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved Bcl-2 homology (BH) motifs 1, 2, 3, and 4
  • C-terminal mitochondrial membrane anchor region
    • HOMOLOGY
    Homologene
    FAMILY
  • BCL2 family of apoptosis regulators
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION novel type of pro-apoptotic BCL2 member that triggers cell death independently of its BH motifs
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    induces apoptosis that is specifically blocked by the caspase inhibitors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS