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TMEM165 Gene

protein-coding   GIFtS: 52
GCID: GC04P056262

Transmembrane Protein 165

  See TMEM165-related diseases
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 1651 2     CDG2K2 5
TPA Regulated Locus1 2     FT272 5
Transmembrane Protein PT272 3     GDT12
Transmembrane Protein TPARL2 3     TMPT272
TPARL2 3     

External Ids:    HGNC: 307601   Entrez Gene: 558582   Ensembl: ENSG000001348517   OMIM: 6147265   UniProtKB: Q9HC073   

Export aliases for TMEM165 gene to outside databases

Previous GC identifers: GC04P055956 GC04P052211


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TMEM165 Gene:
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts.
Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation,
type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene
plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Jul 2012)

GeneCards Summary for TMEM165 Gene:
TMEM165 (transmembrane protein 165) is a protein-coding gene. Diseases associated with TMEM165 include frey syndrome, and congenital disorder of glycosylation, type iik.

UniProtKB/Swiss-Prot: TM165_HUMAN, Q9HC07
Function: May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis.
Therefore, it may play an indirect role in protein glycosylation




(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_000004.11  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM165 gene promoter:
         FOXF2   Lmo2   LCR-F1   Evi-1   HEN1   POU2F1   FOXJ2 (long isoform)   POU2F1a   STAT3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM165 promoter sequence
   Search Chromatin IP Primers for TMEM165

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM165


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

TMEM165 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM165 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P056262:  view genomic region     (about GC identifiers)

Start:
56,262,090 bp from pter      End:
56,319,564 bp from pter
Size:
57,475 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, 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: TM165_HUMAN, Q9HC07 (See protein sequence)
Recommended Name: Transmembrane protein 165 precursor  
Size: 324 amino acids; 34906 Da
Sequence caution: Sequence=AAF67653.1; Type=Frameshift; Positions=2, 7;
Secondary accessions: A8K3P8 Q9BTN9 Q9NZ34

Explore the universe of human proteins at neXtProt for TMEM165: NX_Q9HC07

Explore proteomics data for TMEM165 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys208
  • Glycosylation2 at Thr73, Thr80
  • Modification sites at PhosphoSitePlus

  • See TMEM165 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060945.2  
    ENSEMBL proteins: 
     ENSP00000425449   ENSP00000370736   ENSP00000422639   ENSP00000476531   ENSP00000476621  
     ENSP00000437816  

    TMEM165 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TMEM165

     
    Search eBioscience for Proteins for TMEM165 

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    Abcam antibodies for TMEM165
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    LSBio Antibodies in human, mouse, rat for TMEM165

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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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    1 InterPro protein domain:
     IPR001727 UPF0016

    Graphical View of Domain Structure for InterPro Entry Q9HC07

    ProtoNet protein and cluster: Q9HC07

    1 Blocks protein domain: IPB001727 Protein of unknown function UPF0016

    UniProtKB/Swiss-Prot: TM165_HUMAN, Q9HC07
    Similarity: Belongs to the GDT1 family


    Find genes that share domains with TMEM165           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TM165_HUMAN, Q9HC07
    Function: May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis.
    Therefore, it may play an indirect role in protein glycosylation

    Phenotypes:
         2 GenomeRNAi human phenotypes for TMEM165:

     Decreased viability with pacli  Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM165
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM165

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM165
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM165

    miRNA
    Products:
        
    miRTarBase miRNAs that target TMEM165:
    hsa-let-7c-5p (MIRT051768), hsa-mir-17-5p (MIRT050801), hsa-let-7a-5p (MIRT052436), hsa-mir-26b-5p (MIRT028789), hsa-mir-769-5p (MIRT039158)

    Block miRNA regulation of human, mouse, rat TMEM165 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM165 (see all 15):
    hsa-miR-3671 hsa-miR-892b hsa-miR-187* hsa-miR-181c hsa-miR-3136-5p hsa-miR-1283 hsa-miR-16-1* hsa-miR-181a
    SwitchGear 3'UTR luciferase reporter plasmidTMEM165 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TMEM165
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM165

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TMEM165

    Clone
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    OriGene clones in human, mouse for TMEM165 (see all 8)
    OriGene ORF clones in mouse, rat for TMEM165
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    GenScript: all cDNA clones in your preferred vector: TMEM165 (NM_018475)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM165
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM165

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    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM165 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM165


    (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
    TM165_HUMAN, Q9HC07: Golgi apparatus membrane; Multi-pass membrane protein (Probable). Golgi apparatus,
    trans-Golgi network membrane. Lysosome membrane. Early endosome membrane. Late endosome membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus3
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005765lysosomal membrane IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0010008endosome membrane IDA--
    GO:0016020membrane ----

    Find genes that share ontologies with TMEM165           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 TMEM165
    Interactions:

        Search GeneGlobe Interaction Network for TMEM165

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for TMEM165 (Q9HC073 ENSP000003707364) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBM19Q9Y4C83, ENSP000002617414I2D: score=2 STRING: ENSP00000261741
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    BMS1Q146923, ENSP000003636424I2D: score=3 STRING: ENSP00000363642
    ARCN1P484443I2D: score=1 
    ASLP044243I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006487protein N-linked glycosylation IMP--
    GO:0006874cellular calcium ion homeostasis IGI--
    GO:0032472Golgi calcium ion transport IDA--
    GO:0035751regulation of lysosomal lumen pH IMP--

    Find genes that share ontologies with TMEM165           About GenesLikeMe



    (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 TMEM165 (TM165)



    (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 TMEM165 gene: 
    NM_018475.4  

    Unigene Cluster for TMEM165:

    Transmembrane protein 165
    Hs.479766  [show with all ESTs]
    Unigene Representative Sequence: NR_073070
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000506198 ENST00000381334(uc003hax.2 uc011bzy.1) ENST00000508404
    ENST00000514070 ENST00000511710 ENST00000502797 ENST00000514904 ENST00000508561
    ENST00000608091 ENST00000509575 ENST00000506103 ENST00000515591 ENST00000542052

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TMEM165 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM165 (see all 15):
    hsa-miR-3671 hsa-miR-892b hsa-miR-187* hsa-miR-181c hsa-miR-3136-5p hsa-miR-1283 hsa-miR-16-1* hsa-miR-181a
    SwitchGear 3'UTR luciferase reporter plasmidTMEM165 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TMEM165
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM165
    Clone
    Products:
         
    OriGene clones in human, mouse for TMEM165 (see all 8)
    OriGene ORF clones in mouse, rat for TMEM165
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TMEM165 (NM_018475)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM165
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM165
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM165
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM165
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM165
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM165
      QuantiFast Probe-based Assays in human, mouse, rat TMEM165

    Additional mRNA sequence: 

    AF132746.1 AF183409.1 AK026163.1 AK054712.1 AK123358.1 AK290663.1 AK295289.1 BC003545.1 
    BC104978.1 BC104980.1 BC107582.1 NR_073070.1 

    Selected DOTS entries (see all 25):

    DT.75181343  DT.100797859  DT.100685206  DT.100797853  DT.95155350  DT.100027591  DT.455304  DT.91909474 
    DT.97817226  DT.85104478  DT.91974933  DT.121219466  DT.97844486  DT.100717391  DT.101983336  DT.121219425 
    DT.92439899  DT.100797856  DT.121219447  DT.121219473  DT.92439897  DT.95241598  DT.100797857  DT.100797858 

    Selected AceView cDNA sequences (see all 336):

    BE858087 AW013928 AI394277 CB241004 BF591989 BM854673 BF063130 AA046156 
    AI194062 CF243032 BU623789 AA379786 AI335777 AI869868 AI343488 BM723473 
    BM837208 AI696113 CD367216 AI200556 AA378447 AI332911 AI337001 CF272207 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TMEM165 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for TMEM165

    (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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    TMEM165 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACAACAAG
    TMEM165 Expression
    About this image

    TMEM165 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM165 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479766

    UniProtKB/Swiss-Prot: TM165_HUMAN, Q9HC07
    Tissue specificity: Ubiquitously expressed

        Custom PCR Arrays for TMEM165
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    QuantiTect SYBR Green Assays in human, mouse, rat TMEM165
    QuantiFast Probe-based Assays in human, mouse, rat TMEM165
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM165

    (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 eukaryotes.

    Orthologs for TMEM165 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem1651 , 5 transmembrane protein 1651, 5 86.79(n)1
    91.95(a)1
      5 (40.56 cM)5
    219821  NM_011626.21  NP_035756.21 
     761838805 
    chicken
    (Gallus gallus)
    Aves TMEM1651 transmembrane protein 165 80.49(n)
    91.47(a)
      428780  XM_426336.4  XP_426336.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM1656
    transmembrane protein 165
    68(a)
    1 ↔ 1
    5(104745953-104759160)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ092990.12   -- 79.29(n)    BJ092990.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.26712 Danio rerio transmembrane protein HTP-1 mRNA, complete more 76.13(n)    AF370884.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425421 CG42542 59.41(n)
    60.67(a)
      8674000  NM_001170144.2  NP_001163615.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y54F10AL.11 CELE_Y54F10AL.1 58.27(n)
    56.2(a)
      175368  NM_065166.4  NP_497567.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GDT1(YBR187W)4
    GDT11
    Putative protein of unknown function; expression is more4
    GDT11
    50.83(n)1
    40(a)1
      2(602634-603476)4
    8524851, 4  NP_009746.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G362901 AT5G36290 49.48(n)
    40.31(a)
      833627  NM_180767.1  NP_851098.1 
    rice
    (Oryza sativa)
    Liliopsida Os.94762 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 80.86(n)    AK071982.1 


    ENSEMBL Gene Tree for TMEM165 (if available)
    TreeFam Gene Tree for TMEM165 (if available)

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

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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 TMEM165 (see all 791)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0684474
    Congenital disorder of glycosylation 2K (CDG2K)4--see VAR_0684472 R H mis40--------
    VAR_0684464
    Congenital disorder of glycosylation 2K (CDG2K)4--see VAR_0684462 R C mis40--------
    VAR_0684484
    Congenital disorder of glycosylation 2K (CDG2K)4--see VAR_0684482 G R mis40--------
    rs1997564601,2
    C--52237069(+) AAAAGA/GAAAAA 2 -- int10--------
    rs1891501311,2
    --56162377(+) TCCAGA/GGATGA 2 -- us2k10--------
    rs1400571631,2
    --56162438(+) GTTAGA/GCCTAA 2 -- us2k10--------
    rs1160375441,2
    C,F--56162477(+) CCTAAT/CTGGGT 2 -- us2k12Minor allele frequency- C:0.11WA NA 238
    rs1148553021,2
    F--56162538(+) ATCACA/GAGTGG 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1916166251,2
    --56162559(+) AAACCA/GTGTTC 2 -- us2k10--------
    rs125086941,2
    H--56162578(+) caaacA/Ctgagc 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM165 (56262090 - 56319564 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TMEM165:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667161CNV Deletion23128226
    esv2660719CNV Deletion23128226
    esv23054CNV Loss19812545

    Human Gene Mutation Database (HGMD): TMEM165
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM165
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM165

    (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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    OMIM gene information: 614726   
    OMIM disorders: 614727  
    UniProtKB/Swiss-Prot: TM165_HUMAN, Q9HC07
  • Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]: An autosomal recessive disorder with a
    variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short
    stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly,
    and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis
    and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 3 diseases for TMEM165:    
    About MalaCards
    frey syndrome    congenital disorder of glycosylation, type iik    camurati-engelmann disease

    2 diseases from the University of Copenhagen DISEASES database for TMEM165:
    Congenital disorder of glycosylation     Camurati-Engelmann disease

    Find genes that share disorders with TMEM165           About GenesLikeMe


    Export disorders for TMEM165 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 TMEM165 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with TMEM165)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. (PubMed id 23575229)1, 2, 3 Rosnoblet C.... Foulquier F. (Hum. Mol. Genet. 2013)
    2. TMEM165 deficiency causes a congenital disorder of glycosylation. (PubMed id 22683087)1, 2, 3 Foulquier F.... Matthijs G. (Am. J. Hum. Genet. 2012)
    3. Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. (PubMed id 23569283)1, 2 Demaegd D.... Morsomme P. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. Messenger RNA expressed in mouse teratocarcinoma stem cells and down-regulated by a tumor-promoting phorbol ester codes for a novel transmembrane protein. (PubMed id 3202867)1, 3 Akagi J....Akagi M. (Biochem. Biophys. Res. Commun. 1988)
    8. Bone dysplasia as a key feature in three patients with a novel congenital disorder of glycosylation (CDG) type II due to a deep intronic splice mutation in TMEM165. (PubMed id 23430531)2 Zeevaert R.... Jaeken J. (JIMD Rep. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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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: 55858 HGNC: 30760 AceView: TPARL Ensembl:ENSG00000134851 euGenes: HUgn55858
    ECgene: TMEM165 H-InvDB: TMEM165

    (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 TMEM165 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 TMEM165 gene:
    Search GeneIP for patents involving TMEM165

    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
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