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

TMEM8A Gene

protein-coding   GIFtS: 45
GCID: GC16M000360

Transmembrane Protein 8A

(Previous names: transmembrane protein 6, transmembrane protein 8 (five membrane-spanning...)
(Previous symbols: TMEM6, TMEM8)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane Protein 8A1 2     M832
Transmembrane Protein 61 2 3     Five-Span Transmembrane Protein M832
TMEM61 2 3     Protein M833
TMEM81 2 3     Transmembrane Protein 83
Transmembrane Protein 8 (Five Membrane-Spanning Domains)1 2     

External Ids:    HGNC: 172051   Entrez Gene: 589862   Ensembl: ENSG000001299257   UniProtKB: Q9HCN33   

Export aliases for TMEM8A gene to outside databases


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

GeneCards Summary for TMEM8A Gene: 
TMEM8A (transmembrane protein 8A) is a protein-coding gene. Diseases associated with TMEM8A include tonsillitis. GO annotations related to this gene include molecular_function. An important paralog of this gene is TMEM8B.

UniProtKB/Swiss-Prot: TMM8A_HUMAN, Q9HCN3
Function: May be a cell surface adhesion molecule. May be involved in the maintenance of the resting T-cell state




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMEM8A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TMEM8A promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM8A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM8A


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TMEM8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM8A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000360:  view genomic region     (about GC identifiers)

Start:
420,773 bp from pter      End:
437,113 bp from pter
Size:
16,341 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TMM8A_HUMAN, Q9HCN3 (See protein sequence)
Recommended Name: Transmembrane protein 8A precursor  
Size: 771 amino acids; 84761 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAB14975.1; Type=Erroneous termination; Positions=750; Note=Translated as Ser;
Secondary accessions: D3DU49 Q4TT35 Q8WU24 Q96S25 Q9BR03 Q9BT97 Q9H7B9

Explore the universe of human proteins at neXtProt for TMEM8A: NX_Q9HCN3

Explore proteomics data for TMEM8A at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HCN3

  • TMEM8A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM8A Protein Expression
    REFSEQ proteins: NP_067082.2  
    ENSEMBL proteins: 
     ENSP00000401338   ENSP00000397620   ENSP00000250930   ENSP00000401931   ENSP00000410987  

    Human Recombinant Protein Products for TMEM8A: 
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    Novus Biologicals TMEM8A Protein
    Novus Biologicals TMEM8A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM8A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005887integral to plasma membrane NAS11006113
    GO:0016021integral to membrane ----

    TMEM8A for ontologies           About GeneDecksing



    TMEM8A Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TMEM8A 
    Cloud-Clone Corp. CLIAs for TMEM8A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR021910 DUF3522

    Graphical View of Domain Structure for InterPro Entry Q9HCN3

    ProtoNet protein and cluster: Q9HCN3

    1 Blocks protein domain: IPB006210 Type I EGF

    UniProtKB/Swiss-Prot: TMM8A_HUMAN, Q9HCN3
    Similarity: Belongs to the TMEM8 family
    Similarity: Contains 1 EGF-like domain


    TMEM8A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMM8A_HUMAN, Q9HCN3
    Function: May be a cell surface adhesion molecule. May be involved in the maintenance of the resting T-cell state
    Induction: Repressed during activation of CD4+ and CD8+ T-lymphocytes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    TMEM8A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM8A:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM8A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM8A 
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    miRNA
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM8A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM8A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for TMEM8A (ENSP000004013384) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALPLENSP000003639654STRING: ENSP00000363965
    ENSG00000232312ENSP000003907464STRING: ENSP00000390746
    ENSG00000237495ENSP000004103214STRING: ENSP00000410321
    MACF1ENSP000002898934STRING: ENSP00000289893
    NDUFS5ENSP000003620584STRING: ENSP00000362058
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0008150biological_process ND--

    TMEM8A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TMEM8A (TMM8A)

    Search CenterWatch for drugs/clinical trials and news about TMEM8A / TMM8A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM8A gene: 
    NM_021259.2  

    Unigene Cluster for TMEM8A:

    Transmembrane protein 8A
    Hs.288940  [show with all ESTs]
    Unigene Representative Sequence: NM_021259
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431232(uc002cgu.4 uc002cgv.4) ENST00000424078 ENST00000250930
    ENST00000448854 ENST00000467452 ENST00000475348 ENST00000427313 ENST00000476735

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM8A:
    hsa-miR-548am hsa-miR-548x hsa-miR-548c-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM8A
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                         Customized lentivirus expression plasmids for stable overexpression of TMEM8A 
    Primer
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    OriGene qPCR primer pairs and template standards for TMEM8A
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM8A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM8A

    Additional mRNA sequence: 

    AB045292.1 AK024725.1 AK091823.1 BC004276.1 BC021557.1 BC146939.1 BC146942.1 

    13 DOTS entries:

    DT.85105465  DT.97773134  DT.100776561  DT.100665804  DT.120692906  DT.95079656  DT.120692864  DT.120692915 
    DT.120692918  DT.120692919  DT.95079654  DT.95288308  DT.100016928 

    24/264 AceView cDNA sequences (see all 264):

    AW003475 AI868394 AI628804 CA488354 BM831366 AI638636 AI767451 AI652943 
    BG283001 BQ954173 BM724679 BU160518 BM459821 CB243557 BE873482 BG746648 
    BG824274 BM967081 BM978036 BM467735 BM555979 AI571064 AI355475 BQ008532 

    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

    TMEM8A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGACTAGCG
    TMEM8A Expression
    About this image


    See TMEM8A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM8A

    SOURCE GeneReport for Unigene cluster: Hs.288940

    UniProtKB/Swiss-Prot: TMM8A_HUMAN, Q9HCN3
    Tissue specificity: Expressed in pancreas, placenta, spleen, liver, kidney, bone marrow, peripheral blood
    leukocytes and tonsil

        SABiosciences Custom PCR Arrays for TMEM8A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM8A

    (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 TMEM8A gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem81 , 5 transmembrane protein 8 (five membrane-spanning domains)1, 5 79.89(n)1
    76.07(a)1
      17 (13.06 cM)5
    604551  NM_021793.21  NP_068565.11 
     261133165 
    chicken
    (Gallus gallus)
    Aves --
    --
    --
    56(a)
    56(a)
    1 ↔ many
    1 ↔ many
    AADN03010594.1(3306-18620)
    14(12104178-12121865)
    lizard
    (Anolis carolinensis)
    Reptilia TMEM8A6
    Uncharacterized protein
    51(a)
    1 ↔ 1
    GL344563.1(578-3490)
    zebrafish
    (Danio rerio)
    Actinopterygii tmem8a6
    transmembrane protein 8A
    43(a)
    1 ↔ 1
    1(8992462-9017000)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG136546
    --
    16(a)
    1 → many
    3R(21025540-21039371)


    ENSEMBL Gene Tree for TMEM8A (if available)
    TreeFam Gene Tree for TMEM8A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM8A gene
    TMEM8B2  TMEM8C2  
    2 SIMAP similar genes for TMEM8A using alignment to 5 protein entries:     TMM8A_HUMAN (see all proteins):
    TMEM8B    TMEM8C

    TMEM8A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/447 SNPs in TMEM8A are shown (see all 447)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3741107331,2
    C--420378(+) GCCCC-/GGCTCT 1 -- ds50010--------
    rs2008784301,2
    C--422571(+) TCTCCG/AAGCAC 1 -- int11Minor allele frequency- A:0.00EU 893
    rs2009130771,2
    C--422600(+) CAGCCC/TGGCTC 1 -- int11Minor allele frequency- T:0.00EU 1125
    rs1157591371,2
    C,F--422601(+) AGCCCG/AGCTCC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1908824181,2
    C--422658(+) CAGCAC/TGTTCC 2 M V mis10--------
    rs2005425931,2
    --422676(+) CCTGCA/GGTCCA 2 R C mis10--------
    rs1996006771,2
    --422704(+) ATGACC/GAGTGT 2 L syn10--------
    rs1474501501,2
    --422793(+) CACGCA/GTACCC 1 -- int10--------
    rs1808807741,2
    --422969(+) TAGACA/GATGCT 1 -- int10--------
    rs1855576631,2
    --423135(+) CACCTC/TTGCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TMEM8A (420773 - 437113 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for TMEM8A (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv904707CNV Loss21882294
    dgv2473n71CNV Loss21882294
    nsv904711CNV Loss21882294
    dgv2474n71CNV Loss21882294
    dgv2466n71CNV Loss21882294
    dgv2472n71CNV Loss21882294
    nsv904699CNV Loss21882294
    dgv2469n71CNV Loss21882294
    esv33562CNV Loss17666407


    Human Gene Mutation Database (HGMD): TMEM8A
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for TMEM8A:    About MalaCards
    tonsillitis    


    TMEM8A for disorders           About GeneDecksing


    Export disorders for TMEM8A 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 TMEM8A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal mapping of a novel five-span transmembrane protein gene, M83. (PubMed id 11006113)1, 2, 3, 9 Motohashi T.... Nakauchi H. (2000)
    2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    6. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1 Schroeder B.... Hasilik A. (2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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

      Query String
    PubMed
    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: 58986 HGNC: 17205 AceView: TMEM8 Ensembl:ENSG00000129925 euGenes: HUgn58986
    ECgene: TMEM8A H-InvDB: TMEM8A

    (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 TMEM8A 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 TMEM8A gene:
    Search GeneIP for patents involving TMEM8A

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



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