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TMEM102 Gene

protein-coding   GIFtS: 47
GCID: GC17P007338

Transmembrane Protein 102

  Search for TMEM102
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 1021 2
CBAP2 3 5
Common Beta-Chain Associated Protein2 3

External Ids:    HGNC: 267221   Entrez Gene: 2841142   Ensembl: ENSG000001812847   OMIM: 6139365   UniProtKB: Q8N9M53   

Export aliases for TMEM102 gene to outside databases

Previous GC identifers: GC17P007280 GC17P007232


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM102 Gene:
TMEM102 (transmembrane protein 102) is a protein-coding gene. An important paralog of this gene is MB21D2.

UniProtKB/Swiss-Prot: TM102_HUMAN, Q8N9M5
Function: Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM102 gene promoter:
         Pax-5   CUTL1   Tal-1beta   POU3F2   C/EBPalpha   GATA-1   GATA-2   PPAR-gamma2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM102 promoter sequence
   Search Chromatin IP Primers for TMEM102

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM102


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

TMEM102 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM102 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007338:  view genomic region     (about GC identifiers)

Start:
7,338,762 bp from pter      End:
7,340,998 bp from pter
Size:
2,237 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TM102_HUMAN, Q8N9M5 (See protein sequence)
Recommended Name: Transmembrane protein 102  
Size: 508 amino acids; 54175 Da
Subunit: Interacts with CSF2RB; this interaction occurs preferentially in the absence of CSF2
Secondary accessions: D3DTP8

Explore the universe of human proteins at neXtProt for TMEM102: NX_Q8N9M5

Explore proteomics data for TMEM102 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TMEM102 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_848613.1  
    ENSEMBL proteins: 
     ENSP00000315387   ENSP00000379815  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024810 Mab-21_dom
     IPR024806 TMEM102

    Graphical View of Domain Structure for InterPro Entry Q8N9M5

    ProtoNet protein and cluster: Q8N9M5


    TMEM102 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TM102_HUMAN, Q8N9M5
    Function: Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17828305
         
    TMEM102 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TMEM102:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TM102_HUMAN, Q8N9M5: Cell membrane; Single-pass membrane protein. Note=Although it is found at the cell surface,
    the majority of the molecules seems to be located in intracellular compartments
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA17828305
    GO:0005886plasma membrane IEA--
    GO:0009986cell surface IDA17828305
    GO:0016021integral component of membrane IEA--

    TMEM102 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM102
    Interactions:

        Search GeneGlobe Interaction Network for TMEM102

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for TMEM102 (Q8N9M52, 3 ENSP000003153874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619812, 3, ENSP000003063304MINT-50880 I2D: score=4 STRING: ENSP00000306330
    RAB3IPENSP000003680864STRING: ENSP00000368086
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007165signal transduction IDA17828305
    GO:0034097response to cytokine IDA17828305
    GO:1901028regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA17828305

    TMEM102 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM102 (TM102)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TMEM102 gene: 
    NM_178518.2  

    Unigene Cluster for TMEM102:

    Transmembrane protein 102
    Hs.655662  [show with all ESTs]
    Unigene Representative Sequence: BC046189
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323206(uc002ggx.1 uc002ggy.2) ENST00000396568
    miRNA
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    Additional mRNA sequence: 

    AK094197.1 BC046189.1 

    3 DOTS entries:

    DT.97836102  DT.95263482  DT.75144875 

    Selected AceView cDNA sequences (see all 60):

    BC046189 BI909129 BM745742 CR626016 AK094197 AW297017 AW001057 NM_178518 
    BM988219 AW299973 BI861896 BI907535 BU738249 BG753096 BX352475 CA430653 
    BQ066212 BX363078 BX110318 BQ893084 BX422077 BF343402 BU191131 BG751327 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM102    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for TMEM102

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM102 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGTCGTCGA
    TMEM102 Expression
    About this image

    TMEM102 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM102 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655662
        Custom PCR Arrays for TMEM102
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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TMEM102 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem1021 , 5 transmembrane protein 1021, 5 80.4(n)1
    79.8(a)1
      11 (42.88 cM)5
    3807051  NM_001033433.41  NP_001028605.21 
     698036035 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM1026
    transmembrane protein 102
    38(a)
    1 ↔ 1
    AAWZ02037473(2202-6151)
    zebrafish
    (Danio rerio)
    Actinopterygii TMEM1026
    transmembrane protein 102
    29(a)
    1 ↔ 1
    7(23481362-23492221) ENSDARG00000087162


    ENSEMBL Gene Tree for TMEM102 (if available)
    TreeFam Gene Tree for TMEM102 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM102 gene
    MB21D22  

    TMEM102 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMEM102 (see all 100)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1828565701,2
    C--7336806(+) AAGCAA/GGCGAT 1 -- us2k10--------
    rs1877638491,2
    --7336830(+) CCTCCC/TGAGTA 1 -- us2k10--------
    rs1126696741,2
    C,F--7336839(+) TAGCTG/TGGATT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1909847871,2
    --7336868(+) GCCCAA/GCTAAT 1 -- us2k10--------
    rs1475973251,2
    --7336998(+) AGGGCA/GCCTGG 1 -- us2k10--------
    rs1420901141,2
    --7337219(+) GCCTCA/GGAAGC 1 -- us2k10--------
    rs1178098301,2
    F--7337447(+) AGTGAC/TGAGGA 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs342805881,2
    C,F,H--7337488(+) CTCTAC/TAGTTG 1 -- us2k116Minor allele frequency- T:0.26EA NS WA NA 1784
    rs672322641,2
    C,F--7337515(+) ACAGGC/ACTCTA 1 -- us2k13Minor allele frequency- A:0.17WA NA 240
    rs1442713301,2
    --7337626(+) CAGGCC/TGGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM102 (7338762 - 7340998 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TMEM102:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422288CNV Deletion17116639
    dgv3054n71CNV Loss21882294
    nsv907644CNV Loss21882294
    nsv457659CNV Loss19166990
    nsv523672CNV Loss19592680

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 613936    OMIM disorders: --


    TMEM102 for disorders           About GeneDecksing


    Export disorders for TMEM102 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 TMEM102 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM102)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CBAP interacts with the un-liganded common beta-subunit of the GM- CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction. (PubMed id 17828305)1, 2 Kao C.J....Yen J.J. (Oncogene 2008)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. CBAP functions as a novel component in chemokine-induced ZAP70-mediated T-cell adhesion and migration. (PubMed id 23620790)1 Chiang Y.J....Yen J.J. (PLoS ONE 2013)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. (PubMed id 15324660)1 Jin J.... Pawson T. (Curr. Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 284114 HGNC: 26722 AceView: FLJ36878 Ensembl:ENSG00000181284 euGenes: HUgn284114
    ECgene: TMEM102 H-InvDB: TMEM102

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMEM102 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 TMEM102 gene:
    Search GeneIP for patents involving TMEM102

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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