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TMEM249 Gene

protein-coding   GIFtS: 24
GCID: GC08M145577

Transmembrane Protein 249

  Search for TMEM249
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 2491 2
C8ORFK292
Putative Transmembrane Protein C8orfK292
C8orfK293

External Ids:    HGNC: 441551   Entrez Gene: 3403932   Ensembl: ENSG000002145977   UniProtKB: Q2WGJ83   

Export aliases for TMEM249 gene to outside databases


(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 TMEM249 Gene:
TMEM249 (transmembrane protein 249) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TMEM249
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM249


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

TMEM249 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM249 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M145577:  view genomic region     (about GC identifiers)

Start:
145,575,878 bp from pter      End:
145,578,574 bp from pter
Size:
2,697 bases      Orientation:
minus strand

1 alternative location:
Chr8-,NW_003315924 122,485-124,104     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TM249_HUMAN, Q2WGJ8 (See protein sequence)
Recommended Name: Transmembrane protein 249  
Size: 235 amino acids; 27046 Da

Explore the universe of human proteins at neXtProt for TMEM249: NX_Q2WGJ8

Explore proteomics data for TMEM249 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn38, Asn115

  • See TMEM249 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001239331.1  NP_001239333.1  NP_001267490.1  

    ENSEMBL proteins: 
     ENSP00000381630   ENSP00000435362  

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    Search eBioscience for ELISAs for TMEM249 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR027861 DUF4579

    Graphical View of Domain Structure for InterPro Entry Q2WGJ8

    ProtoNet protein and cluster: Q2WGJ8


    Find genes that share domains with TMEM249           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM249
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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
    TM249_HUMAN, Q2WGJ8: Membrane; Multi-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM249           About GenesLikeMe


    (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 TMEM249
    Interactions:

        Search GeneGlobe Interaction Network for TMEM249

    (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 TMEM249 (TM249)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TMEM249 gene (3 alternative transcripts): 
    NM_001252402.2  NM_001252404.2  NM_001280561.1  

    Unigene Cluster for TMEM249:

    Transmembrane protein 249
    Hs.122231  [show with all ESTs]
    Unigene Representative Sequence: AB196634
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526503 ENST00000398633(uc011llb.2 uc010mfw.3) ENST00000526263

    miRNA
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    Additional mRNA sequence: 

    AB196634.1 BC127763.1 BC127764.1 BC141966.1 BC150569.1 BC150570.1 NR_047684.1 

    2 DOTS entries:

    DT.111999  DT.101972906 

    Selected AceView cDNA sequences (see all 137):

    BM743796 BM555776 AI990159 F10461 BM770050 CA424813 AA761013 BF112242 
    AI474368 AA215393 BM771267 AW083104 CB529716 NM_012162 AI819479 BC033066 
    BE552433 BE742632 BM741819 BM783425 AI130030 BM723694 BG698091 AI521438 

    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™, 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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    TMEM249 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM249 Expression
    About this image

    TMEM249 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM249 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122231
        Custom PCR Arrays for TMEM249
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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 TMEM249 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm81401 predicted gene 8140 75.77(n)
    71.76(a)
      666504  XM_006521643.1  XP_006521706.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM2496
    transmembrane protein 249
    41(a)
    1 ↔ 1
    AAWZ02038339(403-7117)


    ENSEMBL Gene Tree for TMEM249 (if available)
    TreeFam Gene Tree for TMEM249 (if available)

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

    (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 TMEM249 (see all 35)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497227671,2
    --145576470(+) AGGCAA/GGCGGC 3 -- ds50010--------
    rs1926636531,2
    --145576473(+) CAAGCA/GGCAGC 3 -- ds50010--------
    rs1150069711,2
    F--145576505(+) AGCATG/ACACCC 3 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1152595451,2
    F--145576506(+) GCATGC/AACCCC 3 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1845110871,2
    --145576986(+) GTCCCA/GAGGTG 4 S L ut31 mis10--------
    rs1890436631,2
    --145577078(+) TGCCAA/GCGCCA 5 A V R mis1 syn10--------
    rs69896311,2
    H--145577163(+) GGCGAT/AGTAAC 5 /I /F /H /L mis14Minor allele frequency- A:0.00NS EA 406
    rs1930086911,2
    --145577164(+) GCGATA/GTAACG 5 Y H syn1 mis10--------
    rs1467430821,2
    --145577278(+) CATCCC/TCCGTC 3 -- int10--------
    rs1142774661,2
    C,F--145577290(+) TGCCCG/AAAGCC 3 -- int11Minor allele frequency- A:0.08WA 118

    HapMap Linkage Disequilibrium report for TMEM249 (145575878 - 145578574 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TMEM249: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TMEM249
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM249

    (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.)
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      --

    (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 TMEM249 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM249)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)
    2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. (PubMed id )2 

    (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: 340393 HGNC: 44155 AceView: FBXL6 Ensembl:ENSG00000214597 euGenes: HUgn340393
    ECgene: TMEM249 H-InvDB: TMEM249

    (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 TMEM249 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 TMEM249 gene:
    Search GeneIP for patents involving TMEM249

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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