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

TMBIM4 Gene

protein-coding   GIFtS: 47
GCID: GC12M066531

transmembrane BAX inhibitor motif containing 4

 Explore 11 diseases affiliated with
TMBIM4 via our new
 Human Malady Compendium 
Biological research products
for TMBIM4
    

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

Aliases
Transmembrane BAX Inhibitor Motif Containing 41 2     Z-Protein1
GAAP1 2 3     Golgi Anti-Apoptotic Protein2 3
LFG41 2 3     CGI-1191
S1R1 2     Protein Lifeguard 42
ZPRO1 2     Protein S1R3
Transmembrane BAX Inhibitor Motif-Containing Protein 42 3     

External Ids:    HGNC: 242571   Entrez Gene: 516432   Ensembl: ENSG000001559577   UniProtKB: Q9HC243   

Export aliases for TMBIM4 gene to outside databases

Previous GC identifers: GC12M064818 GC12M063581


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

UniProtKB/Swiss-Prot: LFG4_HUMAN, Q9HC24
Function: Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can
modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release

Gene Wiki entry for TMBIM4


(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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMBIM4 gene promoter:
         AP-1   NCX/Ncx   ATF-2   Nkx2-5   NF-AT   PPAR-gamma1   PPAR-gamma2   c-Jun   NF-kappaB1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMBIM4 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMBIM4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMBIM4


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

Entrez Gene cytogenetic band: 12q14.1-q15   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q14.1-q15

TMBIM4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMBIM4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M066531:  view genomic region     (about GC identifiers)

Start:
66,517,709 bp from pter      End:
66,563,852 bp from pter
Size:
46,144 bases      Orientation:
minus strand

(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: LFG4_HUMAN, Q9HC24 (See protein sequence)
Recommended Name: Protein lifeguard 4  
Size: 238 amino acids; 26971 Da
Subunit: Interacts with ITPR3
Subcellular location: Golgi apparatus membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAD34114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q542Z6 Q9UHY5 Q9Y3C2

Explore the universe of human proteins at neXtProt for TMBIM4: NX_Q9HC24

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HC24

  • TMBIM4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057140.2  
    ENSEMBL proteins: 
     ENSP00000350965   ENSP00000444639   ENSP00000388338   ENSP00000286424   ENSP00000381114  
     ENSP00000441291   ENSP00000440964   ENSP00000438957   ENSP00000439310   ENSP00000451688  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TMBIM4

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005795Golgi stack IDA17319741
    GO:0016021integral to membrane IEA--


    TMBIM4 for ontologies           About GeneDecksing



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

    TMBIM4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006214 Bax_inhibitor_1-related

    Graphical View of Domain Structure for InterPro Entry Q9HC24

    ProtoNet protein and cluster: Q9HC24

    UniProtKB/Swiss-Prot: LFG4_HUMAN, Q9HC24
    Similarity: Belongs to the BI1 family. LFG subfamily


    (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: LFG4_HUMAN, Q9HC24
    Function: Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can
    modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release

    miRNA
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    hsa-miR-200c hsa-miR-429 hsa-miR-3143 hsa-miR-200b hsa-miR-556-3p hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidTMBIM4 3' UTR sequence
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19553469


    TMBIM4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TMBIM4:
     Increased gamma-H2AX phosphory 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMBIM4

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

    5/35 Interacting proteins for TMBIM4 (Q9HC243 ENSP000003509654) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC47Q96A333, ENSP000002257264I2D: score=2 STRING: ENSP00000225726
    COX4I1P130733, ENSP000002534524I2D: score=2 STRING: ENSP00000253452
    DDOSTP396563, ENSP000003641884I2D: score=2 STRING: ENSP00000364188
    PPIBP232843, ENSP000003000264I2D: score=2 STRING: ENSP00000300026
    PRPSAP1Q145583, ENSP000004146244I2D: score=2 STRING: ENSP00000414624
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0043066negative regulation of apoptotic process IMP17319741
    GO:0050848regulation of calcium-mediated signaling IDA19553469


    TMBIM4 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

    TMBIM4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TMBIM4
    3 Novoseek chemical compound relationships for TMBIM4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phospholipid 37.1 3 1872862 (2)
    serine 16.2 1 2403355 (1)
    calcium 0 1 1872862 (1)

    Search CenterWatch for drugs/clinical trials and news about TMBIM4 / LFG4 

    (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 TMBIM4 gene: 
    NM_016056.2  

    Unigene Cluster for TMBIM4:

    Transmembrane BAX inhibitor motif containing 4
    Hs.505934  [show with all ESTs]
    Unigene Representative Sequence: AL117550
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358230(uc001stc.3 uc001std.3 uc009zqr.3 uc001stf.3 uc009zqs.3)
    ENST00000544599 ENST00000538217 ENST00000426857 ENST00000286424 ENST00000398033
    ENST00000542724 ENST00000545407 ENST00000545504 ENST00000534930 ENST00000542072
    ENST00000535812 ENST00000556010

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    Additional cDNA sequence: 

    AF113127.1 AF151877.1 AF161526.1 AF182041.1 AF182414.1 AK075069.1 AK094572.1 AK225158.1 
    AL117550.1 BC004401.1 BC020613.1 BC052273.1 BC070366.1 BC094852.1 

    21 DOTS entries:

    DT.100817619  DT.215990  DT.100037203  DT.95135185  DT.104898  DT.100817616  DT.100817617  DT.100037204 
    DT.121123237  DT.92327101  DT.100837616  DT.91959619  DT.121123223  DT.121123234  DT.121123236  DT.121123254 
    DT.95155632  DT.97800391  DT.100817612  DT.75196398  DT.99942723 

    24/279 AceView cDNA sequences (see all 279):

    BU689481 CR597581 BF434508 AW614415 AA912193 CB988270 BM915191 BQ271316 
    AA887381 BM955680 AI472103 AA886637 T50287 AI018289 CR597621 BQ640642 
    BM564028 CD244606 BM918824 AV713864 BX431941 AA904689 BM836205 AA887119 

    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

    TMBIM4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAGTCCTGC

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

    About this image
    See TMBIM4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMBIM4

    SOURCE GeneReport for Unigene cluster: Hs.505934
        SABiosciences Custom PCR Arrays for TMBIM4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMBIM4

    (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 TMBIM4 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMBIM41 transmembrane BAX inhibitor motif containing 4 76.05(n)
    78.79(a)
      771874  XM_001235092.1  XP_001235093.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMBIM46
    --
    66(a)
    1 → many
    GL343256.1(310408-317160)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.63022 Xenopus laevis transcribed sequence with weak similarity more 75.53(n)    48023697 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663432 Danio rerio cDNA clone MGC64112 IMAGE6795228, complete more 70.25(n)    BC057432.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tmbi-41 Protein TMBI-4 47.44(n)
    36.28(a)
      181150  NM_077142.4  NP_509543.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BXI11 Bxi1p 45(n)
    35.91(a)
      855411   NP_014094.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G154701 BI1-like protein 50.57(n)
    42.36(a)
      827218  NM_117636.2  NP_567466.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g04023001 hypothetical protein 46.6(n)
    36.89(a)
      4338736  NM_001062028.1  NP_001055493.1 


    ENSEMBL Gene Tree for TMBIM4 (if available)
    TreeFam Gene Tree for TMBIM4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMBIM4 gene
    TMBIM12  GRINA2  ENSG000002281442  FAIM22  
    4 SIMAP similar genes for TMBIM4 using alignment to 11 protein entries:     LFG4_HUMAN (see all proteins):
    MDS013    GRINA    TMBIM1    FAIM2

    TMBIM4 for paralogs           About GeneDecksing



    (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

    10/546 NCBI SNPs in TMBIM4 are shown (see all 546    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1395754281,2
    --66530222(+) CTTAAC/TAGCTG 1 -- ds50010--------
    rs1894191401,2
    --66530294(+) TCCTAA/GTCCCA 1 -- ds50010--------
    rs721677561,2
    C,--66530435(+) CAAGT-/ACAGAGG 1 -- ds50011Minor allele frequency- AC:0.50CSA 2
    rs352436931,2
    C--66530436(+) AAGTACA/-GAGGG 1 -- ds50011Minor allele frequency- -:0.50NA 2
    rs1499979211,2
    --66530567(+) AAACAA/CATTTC 1 -- ds50010--------
    rs1113168251,2
    C,--66530654(+) TTTCAC/TTGGTT 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1816986371,2
    --66530669(+) GTACAC/TTGACC 1 -- ds50010--------
    rs1452638441,2
    --66530708(+) AAACCA/GTAAGA 1 -- ds50010--------
    rs1861890441,2
    --66530793(+) TAACCA/GCATTA 1 -- ut310--------
    rs11687541,2
    C,F,A,H,--66530799(+) CATTAG/CCATTC 1 -- ut3119Minor allele frequency- C:0.14MN NS EA NA WA CSA 979

    HapMap Linkage Disequilibrium report for TMBIM4 (66517709 - 66563852 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMBIM4: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMBIM4
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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

    TMBIM4 for disorders           About GeneDecksing

    11 diseases for TMBIM4:    About MalaCards
    alpha 1-antitrypsin deficiency    bolivian hemorrhagic fever    argentine hemorrhagic fever    hemorrhagic fever
    venezuelan hemorrhagic fever    warfarin sensitivity    lassa fever    lymphocytic choriomeningitis
    gilbert syndrome    vaccinia    malaria

    4 diseases from the University of Copenhagen DISEASES database for TMBIM4:
    Venezuelan hemorrhagic fever     Lassa fever     Alpha 1-antitrypsin deficiency     Argentine hemorrhagic fever

    Export disorders for TMBIM4 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 TMBIM4 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with TMBIM4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
    2. Six-transmembrane topology for Golgi anti-apoptotic protein (GAAP) and Bax inhibitor 1 (BI-1) provides model for the transmembrane Bax inhibitor-containing motif (TMBIM) family. (PubMed id 22418439)1, 2 Carrara G.... Smith G.L. (2012)
    3. Human Golgi antiapoptotic protein modulates intracell ular calcium fluxes. (PubMed id 19553469)1, 2 de Mattia F....van Kuppeveld F.J. (2009)
    4. A new inhibitor of apoptosis from vaccinia virus and eukaryotes. (PubMed id 17319741)1, 2 Gubser C....Smith G.L. (2007)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    8. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 3 Zhang Q.-H.... Chen Z. (2000)
    9. LFG: a candidate apoptosis regulatory gene family. (PubMed id 19784873)2 Hu L....Goldberger G. (2009)
    10. Comparative genomics and function analysis on BI1 family. (PubMed id 18440869)1 Zhou J....Ma D. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51643 HGNC: 24257 AceView: CGI-119 Ensembl:ENSG00000155957 euGenes: HUgn51643
    ECgene: TMBIM4 H-InvDB: TMBIM4

    (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 TMBIM4 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 TMBIM4 gene:
    Search GeneIP for patents involving TMBIM4

    GeneCards and IP:
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