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

TMEM248 Gene

protein-coding   GIFtS: 38
GCID: GC07P066400

Transmembrane Protein 248

(Previous name: chromosome 7 open reading frame 42)
(Previous symbol: C7orf42)
  Search for TMEM248
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 2481 2
C7orf421 2 3
Chromosome 7 Open Reading Frame 421
UPF0458 Protein C7orf422

External Ids:    HGNC: 254761   Entrez Gene: 550692   Ensembl: ENSG000001066097   UniProtKB: Q9NWD83   

Export aliases for TMEM248 gene to outside databases

Previous GC identifers: GC07P066389 GC07P066393


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

GeneCards Summary for TMEM248 Gene: 
TMEM248 (transmembrane protein 248) is a protein-coding gene.


(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_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMEM248
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TMEM248 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM248

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM248


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

Entrez Gene cytogenetic band: 7q11.21   Ensembl cytogenetic band:  7q11.21   HGNC cytogenetic band: 7q11.21

TMEM248 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM248 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P066400:  view genomic region     (about GC identifiers)

Start:
66,386,203 bp from pter      End:
66,423,538 bp from pter
Size:
37,336 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 65,723,765-65,761,100     

(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: TM248_HUMAN, Q9NWD8 (See protein sequence)
Recommended Name: Transmembrane protein 248  
Size: 314 amino acids; 35052 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q53H07 Q96FR2
Alternative splicing: 2 isoforms:  Q9NWD8-1   Q9NWD8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM248: NX_Q9NWD8

Explore proteomics data for TMEM248 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NWD8

  • TMEM248 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM248 Protein Expression
    REFSEQ proteins: NP_060464.1  
    ENSEMBL proteins: 
     ENSP00000340668   ENSP00000475466   ENSP00000405558   ENSP00000410505   ENSP00000394507  
     ENSP00000413824  

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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    TMEM248 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q9NWD8

    UniProtKB/Swiss-Prot: TM248_HUMAN, Q9NWD8
    Similarity: Belongs to the TMEM248 family


    (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

    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM248:
     Synthetic lethal with Ras 

         1 MGI phenotypic allele for Tmem248 (no phenotypes)

    TMEM248 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM248 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM248 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM248


    (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 TMEM248

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

    1 Interacting protein for TMEM248 (Q9NWD83 ENSP000003406684) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (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 TMEM248 (TM248)

    Search CenterWatch for drugs/clinical trials and news about TMEM248 / TM248

    (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 TMEM248 gene: 
    NM_017994.4  

    Unigene Cluster for TMEM248:

    Transmembrane protein 248
    Hs.488478  [show with all ESTs]
    Unigene Representative Sequence: NM_017994
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341567(uc003tvk.3 uc010lah.3) ENST00000607045 ENST00000433271
    ENST00000413593 ENST00000424964 ENST00000418375 ENST00000484751
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM248
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM248
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM248
    Sirion Biotech Customized lentivirus for stable overexpression of TMEM248 
                         Customized lentivirus expression plasmids for stable overexpression of TMEM248 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM248
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM248
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat TMEM248
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM248
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM248

    Additional mRNA sequence: 

    AK000961.1 AK023152.1 AK222774.1 BC008675.1 BC012562.1 BC022841.1 

    19 DOTS entries:

    DT.98083662  DT.219180  DT.95295273  DT.100838855  DT.100741825  DT.91757631  DT.97801862  DT.100813032 
    DT.121126949  DT.121126982  DT.121126987  DT.91705979  DT.95299802  DT.121126980  DT.100813035  DT.95081855 
    DT.95295306  DT.95295309  DT.40223205 

    24/464 AceView cDNA sequences (see all 464):

    BM557758 F31273 BU735750 BU620749 AA376769 BU728448 BF968254 CD516252 
    AA916896 CR599630 CR605328 CA444367 BM826097 AI359086 Z38183 BQ893878 
    AA729669 CA449170 BM987397 CR601188 AA651913 CR625939 BU615913 BU623648 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM248    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                          
    SP2:                    -                     


    ECgene alternative splicing isoforms for TMEM248

    (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

    TMEM248 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM248 Expression
    About this image


    See TMEM248 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM248

    SOURCE GeneReport for Unigene cluster: Hs.488478
        SABiosciences Custom PCR Arrays for TMEM248
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TMEM248
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM248
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM248
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM248
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM248

    (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 TMEM248 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem2481 , 5 RIKEN cDNA 0610007L01 gene5
    transmembrane protein 2481
    86.73(n)1
    94.59(a)1
      5 (68.91 cM)5
    716671  NM_001081394.11  NP_001074863.11 
     1302197445 
    chicken
    (Gallus gallus)
    Aves TMEM2481 transmembrane protein 248 81.1(n)
    90.45(a)
      417549  XM_415797.2  XP_415797.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM2486
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL344964.1(10736-16249)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644412 hypothetical protein MGC64441 79.81(n)    BC053800.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1035611 zgc:103561 73.25(n)
    80.26(a)
      541403  NM_001013530.1  NP_001013548.1 
    corn
    (Zea mays)
    Liliopsida AY103996.12   -- 100(n)    AY103996.1 


    ENSEMBL Gene Tree for TMEM248 (if available)
    TreeFam Gene Tree for TMEM248 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM248 gene
    1 SIMAP similar gene for TMEM248 using alignment to 4 protein entries:     TM248_HUMAN (see all proteins):
    TMEM219

    TMEM248 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMEM248
    PGOHUM00000245693


    (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

    10/835 SNPs in TMEM248 are shown (see all 835)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs102810901,2
    C--66384208(+) TGCAGC/TGAGCC 1 -- us2k10--------
    rs1381353421,2
    C--66384219(+) AAGATC/TGTGCC 1 -- us2k10--------
    rs1136152831,2
    C,F--66384243(+) CTGGGC/TGACAG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs102354231,2
    C,F,A,H--66384315(+) AGGATG/AAAAGG 1 -- us2k118Minor allele frequency- A:0.17NS EA NA CSA WA 2332
    rs1873988351,2
    --66384322(+) AAGGTC/TTGAGG 1 -- us2k10--------
    rs1921865311,2
    --66384328(+) TGAGGG/TTGCCT 1 -- us2k10--------
    rs1490770641,2
    --66384370(+) AGTCAC/TATATG 1 -- us2k10--------
    rs753931891,2
    C,F--66384516(+) TTACAA/GCAAGG 1 -- us2k11Minor allele frequency- G:0.11EA 120
    rs770267211,2
    --66384614(+) TTGAAC/TATTAC 1 -- us2k10--------
    rs624657501,2
    C--66384617(+) AACATT/CACAGG 1 -- us2k13Minor allele frequency- C:0.05NA EA 242

    HapMap Linkage Disequilibrium report for TMEM248 (66386203 - 66423538 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TMEM248: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM248
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM248

    (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
      --

    (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 TMEM248 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with TMEM248)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. 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. (2002)
    4. Genome-wide association analyses identify multiple loc i associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (2013)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)1 Matsumoto M....Nakayama K.I. (2005)

    (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: 55069 HGNC: 25476 AceView: FLJ10099 Ensembl:ENSG00000106609 euGenes: HUgn55069
    ECgene: TMEM248 H-InvDB: TMEM248

    (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 TMEM248 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 TMEM248 gene:
    Search GeneIP for patents involving TMEM248

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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