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

TMEM8B Gene

protein-coding   GIFtS: 48
GCID: GC09P035814

transmembrane protein 8B

(Previous name: chromosome 9 open reading frame 127 )
(Previous symbol: C9orf127)
 Explore 5 diseases affiliated with
TMEM8B via our new
 Human Malady Compendium 
Biological research products
for TMEM8B
    

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

Aliases
Transmembrane Protein 8B1 2     Protein NGX62 3
C9orf1271 2 3     Chromosome 9 Open Reading Frame 1271
NGX61 2 3     RP11-112J3.102
NAG-51 2     Nasopharyngeal Carcinoma Expressed 62
Nasopharyngeal Carcinoma-Associated Gene 6 Protein2 3     Nasopharyngeal Carcinoma Related Protein2
Protein NAG-52 3     

External Ids:    HGNC: 214271   Entrez Gene: 517542   Ensembl: ENSG000001371037   UniProtKB: A6NDV43   

Export aliases for TMEM8B gene to outside databases

Previous GC identifer: GC09P035785


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

UniProtKB/Swiss-Prot: TMM8B_HUMAN, A6NDV4
Function: May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth,
proliferation and adhesion

Gene Wiki entry for TMEM8B (C9orf127)


(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_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMEM8B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TMEM8B promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM8B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM8B


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.3

TMEM8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM8B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P035814:  view genomic region     (about GC identifiers)

Start:
35,814,448 bp from pter      End:
35,854,844 bp from pter
Size:
40,397 bases      Orientation:
plus 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: TMM8B_HUMAN, A6NDV4 (See protein sequence)
Recommended Name: Transmembrane protein 8B  
Size: 472 amino acids; 51941 Da
Subunit: Isoform 2 (via its cytoplasmic part) interacts with EZR
Subcellular location: Isoform 2: Cell membrane; Multi-pass membrane protein (Probable). Cytoplasm (Probable). Nucleus
(Probable). Mitochondrion. Endoplasmic reticulum. Note=Also detected in mitochondrion and endoplasmic reticulum
Sequence caution: Sequence=AAC28644.1; Type=Erroneous initiation; Sequence=AAF34820.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAF34820.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Sequence of unknown origin in the N-terminal part;
Secondary accessions: B3KQF3 O75539 Q49AB1 Q4KMX5 Q5TCW5 Q9HBY2 Q9P0U7
Alternative splicing: 3 isoforms:  A6NDV4-1   A6NDV4-2   A6NDV4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM8B: NX_A6NDV4

Post-translational modifications:

  • Isoform 2 is N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NDV4

  • TMEM8B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001036054.1  NP_001036055.1  NP_057530.2  

    ENSEMBL proteins: 
     ENSP00000367235   ENSP00000395810   ENSP00000367230   ENSP00000367227  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TMEM8B

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane IDA15498789
    GO:0009986cell surface IDA15498789


    TMEM8B 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

    TMEM8B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR021910 DUF3522

    Graphical View of Domain Structure for InterPro Entry A6NDV4

    ProtoNet protein and cluster: A6NDV4

    UniProtKB/Swiss-Prot: TMM8B_HUMAN, A6NDV4
    Similarity: Belongs to the TMEM8 family
    Similarity: Contains 1 EGF-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: TMM8B_HUMAN, A6NDV4
    Function: May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth,
    proliferation and adhesion
    Induction: Isoform 2 is down-regulated in nasopharyngeal carcinoma cells

    miRNA
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    hsa-miR-186* hsa-miR-516a-3p hsa-miR-516b* hsa-miR-3653 hsa-miR-4308
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM8B

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15498789


    TMEM8B for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TMEM8B:
     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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TMEM8B

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for TMEM8B (A6NDV42, 3 ENSP000003672274) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EZRP153113, ENSP000003389344I2D: score=2 STRING: ENSP00000338934
    SH3GL2Q999623I2D: score=1 
    --XM_292512.32MINT-2873614
    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:0007160cell-matrix adhesion IMP15498789
    GO:0007346regulation of mitotic cell cycle TAS15498789
    GO:0040008regulation of growth IEA--


    TMEM8B 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMEM8B
    Search CenterWatch for drugs/clinical trials and news about TMEM8B / TMM8B 

    (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 TMEM8B gene (3 alternative transcripts): 
    NM_001042589.2  NM_001042590.2  NM_016446.3  

    Unigene Cluster for TMEM8B:

    Transmembrane protein 8B
    Hs.493808  [show with all ESTs]
    Unigene Representative Sequence: NM_001042590
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377996 ENST00000439587(uc003zyk.3) ENST00000377991(uc003zym.3)
    ENST00000464519 ENST00000473947 ENST00000472010 ENST00000490199 ENST00000377988(uc003zyn.3 uc003zyo.3)


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    hsa-miR-186* hsa-miR-516a-3p hsa-miR-516b* hsa-miR-3653 hsa-miR-4308
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AF070572.1 AF188239.1 AK074844.1 BC043384.1 BC064951.1 BC082765.1 BC098265.1 BC098296.1 
    BC099733.1 

    12 DOTS entries:

    DT.100806215  DT.108476  DT.121165138  DT.438424  DT.40308515  DT.100010162  DT.97801621  DT.437144 
    DT.95239336  DT.100779858  DT.121165156  DT.95167360 

    24/107 AceView cDNA sequences (see all 107):

    BC064951 BF843007 BM554267 CD517650 BQ945856 AA837043 BM977883 AI521416 
    BM468607 BI711178 CB242773 AI093854 BM713915 AA449507 AA171488 BX282158 
    AF070572 BE675594 BE391614 AI818893 BX094772 BU738753 BC082765 BU856426 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM8B (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                -     -     -     -     -     -     -     -     -     -     -     -                                                         
    SP4:                                -     -     -     -                                                     -                                                   
    SP5:                                                                                                        -                                                   

    ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
    SP1:  -                                 
    SP2:  -                                 
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for TMEM8B

    (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

    TMEM8B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTCTGGAA

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

    About this image
    See TMEM8B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM8B

    SOURCE GeneReport for Unigene cluster: Hs.493808
        SABiosciences Custom PCR Arrays for TMEM8B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM8B

    (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 animals.

    Orthologs for TMEM8B gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMEM8B1 transmembrane protein 8B 75(n)
    76.48(a)
      769808  XM_001233114.2  XP_001233115.2 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM8B6
    --
    76(a)
    1 ↔ 1
    GL344461.1(17557-32011)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-84j12.11 si:dkey-84j12.1 69.21(n)
    72.25(a)
      563965  XM_001920797.3  XP_001920832.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG136546
    --
    13(a)
    1 → many
    3R(21025540-21039371)


    ENSEMBL Gene Tree for TMEM8B (if available)
    TreeFam Gene Tree for TMEM8B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM8B gene
    TMEM8A2  TMEM8C2  
    2 SIMAP similar genes for TMEM8B using alignment to 1 protein entry:     TMM8B_HUMAN:
    TMEM8A    TMEM8C

    TMEM8B 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

    10/459 NCBI SNPs in TMEM8B are shown (see all 459    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs749659951,2
    F,--35783707(+) CCCCCA/GTGTTC 1 -- us2k11Minor allele frequency- G:0.13WA 118
    rs1131300181,2
    C,--35785100(+) GACCAA/GTAGAG 1 -- us2k12Minor allele frequency- G:0.04WA 120
    rs70386171,2
    C,F,--35786102(+) CAGGGA/GTTGGC 1 -- int11Minor allele frequency- G:0.09WA 118
    rs734448421,2
    C,--35787465(+) ATCCCC/TAGCCA 1 -- int12Minor allele frequency- T:0.02WA 120
    rs757630331,2
    F,--35787672(+) GGTGAG/CGGGAG 1 -- int11Minor allele frequency- C:0.08WA 118
    rs117929891,2
    H--35788514(+) GCTTAG/TCTAGT 1 -- int10--------
    rs1151075011,2
    C,F,--35789904(+) CTGCTC/TCTAAC 1 -- int11Minor allele frequency- T:0.05WA 118
    rs734448471,2
    C,--35790703(+) ACTTTC/TCAGAC 1 -- int12Minor allele frequency- T:0.04WA 120
    rs119995241,2
    H--35790977(+) CATTGG/TCTGCT 1 -- int10--------
    rs775234271,2
    --35791234(+) TGTTGC/TCCAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for TMEM8B (35814448 - 35854844 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMEM8B: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM8B
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM8B

    (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

    TMEM8B for disorders           About GeneDecksing

    5 diseases for TMEM8B:    About MalaCards
    nasopharyngitis    carcinoma    nasopharynx carcinoma    colon cancer
    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for TMEM8B:
    Nasopharynx carcinoma
    Human Genome Epidemiology (HuGE) Navigator: TMEM8B (1 document)

    Export disorders for TMEM8B 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)
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    PubMed articles for TMEM8B gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with TMEM8B)
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    1. The expression of ezrin in NPC and its interaction with NGX6, a novel candidate suppressor. (PubMed id 17270023)1, 2 Peng S.-P.... Li G.-Y. (2007)
    2. The role of NGX6 and its deletion mutants in the proliferation, adhesion and migration of nasopharyngeal carcinoma 5-8F cells. (PubMed id 17641538)1, 2 Peng S.P.... Li G.-Y. (2006)
    3. Role of a novel EGF-like domain-containing gene NGX6 in cell adhesion modulation in nasopharyngeal carcinoma cells. (PubMed id 15498789)1, 2 Ma J....Li G. (2005)
    4. NGX6 gene inhibits cell proliferation and plays a negative role in EGFR pathway in nasopharyngeal carcinoma cells. (PubMed id 15723283)1, 2 Wang L.-L.... Li G.-Y. (2005)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    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. Expression of tumor related genes NGX6, NAG-7, BRD7 in gastric and colorectal cancer. (PubMed id 12918109)1, 3 Zhang X.M....Li J. (2003)
    8. Proteomic detection of changes in protein synthesis induced by NGX6 transfected in human nasopharyngeal carcinoma cells. (PubMed id 11565907)1, 2 Li J....Li G. (2001)
    9. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    10. Tumor suppressor gene NGX6 induces changes in protein expression profiles in colon cancer HT-29 cells. (PubMed id 22647848)1 Li Y....Su Z. (2012)

    (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)
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    Entrez Gene: 51754 HGNC: 21427 AceView: C9orf127 Ensembl:ENSG00000137103 euGenes: HUgn51754
    ECgene: TMEM8B H-InvDB: TMEM8B

    (According to HUGE)
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      --

    (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 TMEM8B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMEM8B gene:
    Search GeneIP for patents involving TMEM8B

    GeneCards and IP:
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