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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAG6 Gene

protein-coding   GIFtS: 53
GCID: GC06M031648

BCL2-associated athanogene 6

(Previous name: HLA-B associated transcript 3 )
(Previous symbol: BAT3)
 Explore 15 diseases affiliated with
BAG6 via our new
 Human Malady Compendium 
Biological research products
for BAG6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BCL2-Associated Athanogene 61 2 3     BAG-62 3
BAT31 2 3 5     BAG Family Molecular Chaperone Regulator 62 3
G31 2 3     HLA-B-Associated Transcript 32 3
D6S52E1 2 5     HLA-B Associated Transcript-32
HLA-B Associated Transcript 31 2     Large Proline-Rich Protein BAG62
Protein G32 3     Large Proline-Rich Protein BAT32
Protein Scythe2 3     Scythe1

External Ids:    HGNC: 139191   Entrez Gene: 79172   Ensembl: ENSG000002044637   OMIM: 1425905   UniProtKB: P463793   

Export aliases for BAG6 gene to outside databases

Previous GC identifers: GC06M031392 GC06M031632 GC06M031636 GC06M031639 GC06M031643


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAG6:
This gene was first characterized as part of a cluster of genes located within the human major histocompatibility
complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the
control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the
acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BAG6_HUMAN, P46379
Function: Chaperone that plays a key role in various processes such as apoptosis, insertion of tail-anchored (TA)
membrane proteins to the endoplasmic reticulum membrane and regulation of chromatin. Acts in part by regulating
stability of proteins and their degradation by the proteasome. Participates in endoplasmic reticulum stress-induced
apoptosis via its interaction with AIFM1/AIF by regulating AIFM1/AIF stability and preventing its degradation. Also
required during spermatogenesis for synaptonemal complex assembly via its interaction with HSPA2, by inhibiting
polyubiquitination and subsequent proteasomal degradation of HSPA2. Required for selective ubiquitin-mediated
degradation of defective nascent chain polypeptides by the proteasome. In this context, may play a role in
immuno-proteasomes to generate antigenic peptides via targeted degradation, thereby playing a role in antigen
presentation in immune response. Key component of the BAG6/BAT3 complex, a cytosolic multiprotein complex involved in
the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA
membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region.
BAG6/BAT3 acts by facilitating TA membrane proteins capture by ASNA1/TRC40: it is recruited to ribosomes synthesizing
membrane proteins, interacts with the transmembrane region of newly released TA proteins and transfers them to
ASNA1/TRC40 for targeting to the endoplasmic reticulum membrane
Function: Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a
complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53
transcriptional activity. When nuclear, may also act as a component of some chromatin regulator complex that regulates
histone 3 'Lys-4' dimethylation (H3K4me2)
Function: Can be released from tumor and dendritic cells in membrane vesicles or exosomes, and engage NCR3 thereby
promoting natural killer cell (NK) activation and cytotoxicity

Gene Wiki entry for BAG6 (HLA-B associated transcript 3)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BAG6
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAG6 promoter sequence
   Search SABiosciences Chromatin IP Primers for BAG6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAG6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

BAG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAG6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031648:  view genomic region     (about GC identifiers)

Start:
31,606,805 bp from pter      End:
31,620,482 bp from pter
Size:
13,678 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,ALT_REF_LOCI_4 31,569,347-31,583,025      Chr6-,ALT_REF_LOCI_2 31,594,212-31,647,080      Chr6-,ALT_REF_LOCI_5 31,597,915-31,611,580     
Chr6-,ALT_REF_LOCI_6 31,597,040-31,646,299      Chr6-,ALT_REF_LOCI_3 31,588,979-31,613,697      Chr6-,ALT_REF_LOCI_7 31,527,067-31,540,741     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BAG6_HUMAN, P46379 (See protein sequence)
Recommended Name: Large proline-rich protein BAG6  
Size: 1132 amino acids; 119409 Da
Subunit: Component of the BAT3 complex, at least composed of BAG6/BAT3, UBL4A and GET3/TRC35. Interacts with AIFM1,
CTCFL, HSPA2 and p300/EP300. Interacts with ricin A chain. Interacts with L.pneumophila proteins Lpg2160 and LegU1.
Interacts with NCR3
Subcellular location: Cytoplasm, cytosol. Nucleus. Note=The C-terminal fragment generated by caspase-3 is cytoplasmic.
Also found in extracellular vesicular exosomes in some tumor cells
Sequence caution: Sequence=AAD18085.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB63390.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI18318.2;
Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for BAG6:
1WX9 (3D)        4DWF (3D)        4EEW (3D)    
Secondary accessions: A2ADJ7 A3KQ42 A3KQ44 A6NGY6 A6PWF7 B0UX84 B4DZ12 B4E3V4 E7EMZ4 F8VXY4 O95874
Q5HYL9 Q5SQ35 Q5SQ36 Q5SQ37 Q5SQ41 Q5SRP8 Q5SRP9 Q5STC1 Q5STX1 Q5STX3 Q96SA6 Q9BCN4
Alternative splicing: 5 isoforms:  P46379-1   P46379-2   P46379-3   P46379-4   P46379-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BAG6: NX_P46379

Post-translational modifications:

  • Cleavage by caspase-3 releases a C-terminal peptide that plays a role in ricin-induced apoptosis1
  • In case of infection by L.pneumophila, ubiquitinated by the SCF(LegU1) complex1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46379

  • BAG6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_001092004.1  NP_001186626.1  NP_001186627.1  NP_004630.3  NP_542433.1  NP_542434.1  

    ENSEMBL proteins: 
     ENSP00000413225   ENSP00000416633   ENSP00000365143   ENSP00000365131   ENSP00000211379  
     ENSP00000397978   ENSP00000410280   ENSP00000401544   ENSP00000406434   ENSP00000411083  
     ENSP00000394856   ENSP00000404971   ENSP00000401031   ENSP00000413561   ENSP00000391613  
     ENSP00000388244   ENSP00000411043   ENSP00000391783   ENSP00000403629   ENSP00000406302  
     ENSP00000406436   ENSP00000396503   ENSP00000384494   ENSP00000402856   ENSP00000354875  

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    Uscn Proteins for BAG6

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17403783
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA17403783
    GO:0071818BAT3 complex IDA--


    BAG6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BAG6


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BAG6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR019954 Ubiquitin_CS
     IPR021925 DUF3538
     IPR000626 Ubiquitin
     IPR019955 Ubiquitin_supergroup

    Graphical View of Domain Structure for InterPro Entry P46379

    ProtoNet protein and cluster: P46379

    1 Blocks protein family: IPB000626 Ubiquitin domain

    UniProtKB/Swiss-Prot: BAG6_HUMAN, P46379
    Similarity: Contains 1 ubiquitin-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BAG6_HUMAN, P46379
    Function: Chaperone that plays a key role in various processes such as apoptosis, insertion of tail-anchored (TA)
    membrane proteins to the endoplasmic reticulum membrane and regulation of chromatin. Acts in part by regulating
    stability of proteins and their degradation by the proteasome. Participates in endoplasmic reticulum stress-induced
    apoptosis via its interaction with AIFM1/AIF by regulating AIFM1/AIF stability and preventing its degradation. Also
    required during spermatogenesis for synaptonemal complex assembly via its interaction with HSPA2, by inhibiting
    polyubiquitination and subsequent proteasomal degradation of HSPA2. Required for selective ubiquitin-mediated
    degradation of defective nascent chain polypeptides by the proteasome. In this context, may play a role in
    immuno-proteasomes to generate antigenic peptides via targeted degradation, thereby playing a role in antigen
    presentation in immune response. Key component of the BAG6/BAT3 complex, a cytosolic multiprotein complex involved in
    the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA
    membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region.
    BAG6/BAT3 acts by facilitating TA membrane proteins capture by ASNA1/TRC40: it is recruited to ribosomes synthesizing
    membrane proteins, interacts with the transmembrane region of newly released TA proteins and transfers them to
    ASNA1/TRC40 for targeting to the endoplasmic reticulum membrane
    Function: Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a
    complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53
    transcriptional activity. When nuclear, may also act as a component of some chromatin regulator complex that regulates
    histone 3 'Lys-4' dimethylation (H3K4me2)
    Function: Can be released from tumor and dendritic cells in membrane vesicles or exosomes, and engage NCR3 thereby
    promoting natural killer cell (NK) activation and cytotoxicity

    miRNA
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    hsa-miR-200c hsa-miR-429 hsa-miR-4318 hsa-miR-3611 hsa-miR-1252 hsa-miR-200b hsa-miR-892a
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0030544Hsp70 protein binding IEA--
    GO:0031593polyubiquitin binding ISS--
    GO:0043022ribosome binding IDA--
    GO:0070628proteasome binding ISS--


    BAG6 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for BAG6:
     Increased G1 DNA content  Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Bag6tm1Pmc for BAG6
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bag6):
     cellular  homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 
     respiratory system 

    BAG6 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling1.00
    2Protein Stability
    Protein Stability1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for BAG6
        TGF-beta/Smad Signaling
    Protein Stability



    BAG6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BAG6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/172 Interacting proteins for BAG6 (P463791, 2, 3 ENSP000003651314) via UniProtKB, MINT, STRING, and/or I2D (see all 172)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBL7Q96S822, 3, ENSP000003548834MINT-62792 MINT-62716 MINT-62618 I2D: score=4 STRING: ENSP00000354883
    ATN1P542592, 3, ENSP000003490764MINT-2864594 MINT-2864575 I2D: score=3 STRING: ENSP00000349076
    KLHL12Q53G592, 3, ENSP000003562304MINT-66953 I2D: score=5 STRING: ENSP00000356230
    SMN1Q166372, 3MINT-64291 I2D: score=5 
    SMN2Q166372, 3MINT-64291 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development ISS--
    GO:0006511ubiquitin-dependent protein catabolic process ISS--
    GO:0006810transport IEA--
    GO:0007130synaptonemal complex assembly ISS--
    GO:0007283spermatogenesis ISS--


    BAG6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAG6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAG6
    1 PharmGKB related drug/compound annotation for BAG6 gene
    Drug/compound PharmGKB Annotation
    carbamazepineCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about BAG6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAG6 gene (6 alternative transcripts): 
    NM_001098534.1  NM_001199697.1  NM_001199698.1  NM_004639.3  NM_080702.2  NM_080703.2  

    Unigene Cluster for BAG6:

    BCL2-associated athanogene 6
    Hs.440900  [show with all ESTs]
    Unigene Representative Sequence: NM_004639
    18/34 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 34):
    ENST00000464869 ENST00000464126 ENST00000422948 ENST00000441793 ENST00000375976(uc003nvf.4)
    ENST00000375964 ENST00000211379(uc003nvi.4 uc003nvh.4 uc003nvg.4 uc011dnw.2 uc011dnx.2)
    ENST00000462875 ENST00000470875 ENST00000437771 ENST00000465348 ENST00000438149
    ENST00000436214 ENST00000469182 ENST00000453833 ENST00000435080 ENST00000462682
    ENST00000434444

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    Additional cDNA sequence: 

    AK302695.1 AK304879.1 BC003133.1 BC131567.1 BX647244.1 M33519.1 

    24/44 DOTS entries (see all 44):

    DT.454198  DT.95301397  DT.97856192  DT.100650022  DT.100852263  DT.100852256  DT.92458340  DT.92458327 
    DT.95301422  DT.100852276  DT.100805964  DT.95301426  DT.92458335  DT.121312722  DT.100852272  DT.100852278 
    DT.92458341  DT.100852268  DT.100852271  DT.95301373  DT.95348059  DT.100807709  DT.85105594  DT.95301393 

    24/384 AceView cDNA sequences (see all 384):

    BM927106 BF594693 BM830544 BG252296 BF194760 BI523628 BU539436 BE271564 
    BI913608 BG109777 BU146637 CF125935 BM927688 AI623193 BQ929445 BM991023 
    AL044929 BG818745 AW276474 BQ923162 BU521395 AA715034 BI836477 BE262419 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAG6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BAG6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAG6

    SOURCE GeneReport for Unigene cluster: Hs.440900
        SABiosciences Custom PCR Arrays for BAG6
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BAG6 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bag61 , 5 BCL2-associated athanogene 61, 5 88.71(n)1
    94.23(a)1
      17 (18.59 cM)5
    2247271  NM_001252469.11  NP_001239398.11 
     351351785 
    lizard
    (Anolis carolinensis)
    Reptilia BAG66
    --
    64(a)
    1 ↔ 1
    2(193981909-194007969)
    African clawed frog
    (Xenopus laevis)
    Amphibia bat2-A-prov2 HLA-B associated transcript 3(scythe) 74.6(n)    AF098511.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bat32 HLA-B-associated transcript 3 75.53(n)   83910  BC052476.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75466
    --
    16(a)
    1 ↔ 1
    3L(7504086-7510416)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G252706
    AT5G110806
    (see all 3)
    ubiquitin family protein
    (see all 3)
    17(a)
    15(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    5(8757547-8762757)
    5(3517223-3520003)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    ubiquitin family protein, putative, expressed
    15(a)
    14(a)
    many → 1
    many → 1
    8(11868985-11878535)
    7(18716041-18724775)


    ENSEMBL Gene Tree for BAG6 (if available)
    TreeFam Gene Tree for BAG6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/365 NCBI SNPs in BAG6 are shown (see all 365    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs92793771,2
    C--31400774(+) ttttt-/Tagaca 1 -- int10--------
    rs668204731,2
    C--31400774(+) TTTTT-/TGAGAC 1 -- int11Minor allele frequency- T:0.00NA 2
    rs20774911,2
    C,F,A,H,--31606376(+) AAACAT/CCAGGC 6 -- ds500121Minor allele frequency- C:0.45NS EA NA WA 2334
    rs20774921,2
    C,F,A,H,--31606392(+) GCGGTG/AGCCCA 6 -- ds50015Minor allele frequency- A:0.50NA WA 10
    rs31300461,2
    C,F,--31606398(+) GCCCAC/GGCCTG 6 -- ds50014Minor allele frequency- G:0.38NA CSA 8
    rs1831738041,2
    --31606408(+) GTAATC/TCCAGC 6 -- ds50010--------
    rs20775381,2
    A--31606432(+) aaggcG/Aggtgg 6 -- ds50011Minor allele frequency- A:0.00NA 2
    rs1860822341,2
    --31606471(+) CTGGCA/CAATAT 6 -- ds50010--------
    rs20775371,2
    C,F,A,H,--31606522(+) GGCGTG/CGTGGC 6 -- ds50017Minor allele frequency- C:0.29NA WA 14
    rs1904529981,2
    --31606528(+) GTGGCA/GGACGC 6 -- ds50010--------

    HapMap Linkage Disequilibrium report for BAG6 (31606805 - 31620482 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BAG6: --
    Human Gene Mutation Database (HGMD): BAG6

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BAG6 for disorders           About GeneDecksing

    OMIM gene information: 142590    OMIM disorders: --

    15 diseases for BAG6:    About MalaCards
    coronary artery aneurysm    systemic lupus erythematosus    lupus erythematosus    acute lymphoblastic leukemia
    lymphoblastic leukemia    lung cancer susceptibility    rheumatoid arthritis    lung cancer
    arthritis    leukemia    osteosarcoma    ataxia
    esophagitis    adenocarcinoma    sepsis


    Export disorders for BAG6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BAG6 gene, integrated from 9 sources (see all 98):
    (articles sorted by number of sources associating them with BAG6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene pair from the human major histocompatibility complex encodes large proline-rich proteins with multiple repeated motifs and a single ubiquitin-like domain. (PubMed id 2156268)1, 2, 3, 9 Banerji J.... Spies T. (1990)
    2. Human leukocyte antigen-B-associated transcript 3 is released from tumor cells and engages the NKp30 receptor on natural killer cells. (PubMed id 18055229)1, 2, 9 Pogge von Strandmann E....Engert A. (2007)
    3. A ribosome-associating factor chaperones tail-anchore d membrane proteins. (PubMed id 20676083)1, 2 Mariappan M....Hegde R.S. (2010)
    4. Bat3 promotes the membrane integration of tail-anchor ed proteins. (PubMed id 20516149)1, 2 Leznicki P....High S. (2010)
    5. BAT3 and SET1A form a complex with CTCFL/BORIS to modulate H3K4 histone dimethylation and gene expression. (PubMed id 18765639)1, 2 Nguyen P.... Gius D. (2008)
    6. Dendritic cells release HLA-B-associated transcript-3 positive exosomes to regulate natural killer function. (PubMed id 18852879)1, 2 Simhadri V.R....Pogge von Strandmann E. (2008)
    7. HLA-B-associated transcript 3 (Bat3)/Scythe is essential for p300-mediated acetylation of p53. (PubMed id 17403783)1, 2 Sasaki T....Okada H. (2007)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Ricin triggers apoptotic morphological changes through caspase-3 cleavage of BAT3. (PubMed id 14960581)1, 2 Wu Y.-H.... Lin J.-Y. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7917 HGNC: 13919 AceView: BAT3 Ensembl:ENSG00000204463 euGenes: HUgn7917
    ECgene: BAG6 H-InvDB: BAG6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BAG6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BAG6 gene:
    Search GeneIP for patents involving BAG6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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