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

TMEM48 Gene

protein-coding   GIFtS: 49
GCID: GC01M054231

transmembrane protein 48
 Explore 4 diseases affiliated with
TMEM48 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TMEM48    

Aliases
for TMEM48 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane Protein 481 2 3
NDC12 3 5
NET31 2
FLJ104071
Nucleoporin NDC12
HNDC11

External Ids:    HGNC: 255251   Entrez Gene: 557062   Ensembl: ENSG000000588047   OMIM: 6101155   UniProtKB: Q9BTX13   
ORGUL members:         
NONCODE:n409072    

Export aliases for TMEM48 gene to outside databases

Previous GC identifers: GC01M053946 GC01M052345


Summaries
for TMEM48 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: NDC1_HUMAN, Q9BTX1
Function: Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC
in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the
nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane

Gene Wiki entry for TMEM48


Genomic Views
for TMEM48 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM48 gene promoter:
         E2F-3a   E2F-4   E2F-5   Lmo2   RelA   E2F-2   NF-kappaB   E2F-1   E2F   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM48 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM48

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM48


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

TMEM48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM48 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M054231:  view genomic region     (about GC identifiers)

Start:
 54,231,133 bp from pter      End:
 54,304,533 bp from pter
Size:
 73,401 bases      Orientation:
 minus strand

Proteins
for TMEM48 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NDC1_HUMAN, Q9BTX1 (See protein sequence)
Recommended Name: Nucleoporin NDC1  
Size: 674 amino acids; 76305 Da
Subunit: Interacts with the NUP35/NUP53 (By similarity)
Subcellular location: Nucleus, nuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note=Central core
structure of the nuclear pore complex
Sequence caution: Sequence=BAB14135.1; Type=Erroneous initiation; Sequence=BAC03665.1; Type=Erroneous initiation;
Secondary accessions: Q8NB76 Q9H9T6 Q9NSG3 Q9NSG4 Q9NVZ7
Alternative splicing: 4 isoforms:  Q9BTX1-1   Q9BTX1-2   Q9BTX1-3   Q9BTX1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM48: NX_Q9BTX1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BTX1

    • TMEM48 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001162023.1  NP_060557.3  

    ENSEMBL proteins: 
     ENSP00000360483   ENSP00000234725   ENSP00000439947   ENSP00000440873  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: TMEM48
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    Novus Biologicals TMEM48 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TMEM48

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005643nuclear pore IDA16600873
    GO:0016021integral to membrane ----
    GO:0031965nuclear membrane IEA--


    TMEM48 for ontologies           About GeneDecksing



    TMEM48 Antibody Products: 
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    Uscn Antibodies for TMEM48
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    Uscn ELISAs and CLIAs for TMEM48

    Protein Domains /
    Families
    for TMEM48 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TMEM48 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019049 Nucleoporin_prot_Ndc1/Nup

    Graphical View of Domain Structure for InterPro Entry Q9BTX1

    ProtoNet protein and cluster: Q9BTX1

    UniProtKB/Swiss-Prot: NDC1_HUMAN, Q9BTX1
    Similarity: Belongs to the NDC1 family


    Function
    for TMEM48 gene

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

         UniProtKB/Swiss-Prot: NDC1_HUMAN, Q9BTX1
    Function: Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC
    in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the
    nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane

    miRNA
    Products:            		 OriGene 3'-UTR Clone: TMEM48
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM48
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM48 (see all 70):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-607 hsa-miR-640 hsa-miR-376b hsa-miR-629* hsa-miR-548a-5p hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmid: TMEM48 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM48 (see all 7)
    OriGene shRNA RFP: TMEM48
    OriGene siRNA: TMEM48
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM48

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TMEM48

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM48 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM48 (NM_018087)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM48
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM48 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TMEM48
    Search LifeMap BioReagents cell lines for TMEM48

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM48

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017056structural constituent of nuclear pore IMP16600873


    TMEM48 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for TMEM48:
     Increased HPV18 LCR reporter a  Synthetic lethal with Ras 


    Pathways & Interactions
    for TMEM48 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1RNA transport
    		RNA transport1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for TMEM48):
        RNA transport


    TMEM48 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM48

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for TMEM48 (Q9BTX13 ENSP000003604834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RIBC2Q9H4K13I2D: score=5 
    COG6Q9Y2V73I2D: score=3 
    DDA1Q9BW613I2D: score=1 
    NUP93ENSP000003106684STRING: ENSP00000310668
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport NAS16600873
    GO:0031081nuclear pore distribution IMP16600873
    GO:0051028mRNA transport IEA--
    GO:0051292nuclear pore complex assembly IMP16600873


    TMEM48 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TMEM48 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 TMEM48
    Search CenterWatch for drugs/clinical trials and news about TMEM48 / NDC1 

    Transcripts
    for TMEM48 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TMEM48 gene (2 alternative transcripts): 
    NM_001168551.1  NM_018087.4  

    Unigene Cluster for TMEM48:

    Transmembrane protein 48
    Hs.476525  [show with all ESTs]
    Unigene Representative Sequence: NM_018087
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371429(uc010onu.2 uc001cvs.3 uc001cvt.3 uc009vzk.3 uc010onv.2)
    ENST00000480952 ENST00000234725 ENST00000537333 ENST00000540001

    miRNA
    Products:             		 OriGene 3'-UTR Clone: TMEM48
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM48
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM48 (see all 70):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-607 hsa-miR-640 hsa-miR-376b hsa-miR-629* hsa-miR-548a-5p hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmid: TMEM48 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM48 (see all 7)
    OriGene shRNA RFP: TMEM48
    OriGene siRNA: TMEM48
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM48
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM48 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM48 (see all 2)
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    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM48 (NM_018087)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM48
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM48 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMEM48
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM48
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM48

    Additional cDNA sequence: 

    AK001269.1 AK001593.1 AK022618.1 AK025450.1 AK091439.1 AK295000.1 AK298909.1 AK302910.1 
    AL354612.1 AL354613.1 BC003082.2 BX648031.1 DQ141696.1 NR_033142.1 

    9 DOTS entries:

    DT.442249  DT.100028837  DT.100735864  DT.100822617  DT.121341804  DT.92444044  DT.100822618  DT.91740862 
    DT.97782927 

    24/281 AceView cDNA sequences (see all 281):

    BM458694 AI650728 BU157855 AU131100 BF111699 AL354612 BU179902 BM973674 
    AA687117 BX957089 BM550943 AA237035 AW590447 AA253485 BF939601 BU429008 
    CA313757 BX476828 AA253362 BU618916 BM819317 CB148777 AW967440 AA436408 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM48 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^
    SP1:                                                                                                                                -                           
    SP2:                                                                                                                    -     -     -                           
    SP3:                    -                                                                                                           -                           
    SP4:                                                                                            -     -     -                       -                           
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b · 19c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for TMEM48

    Expression
    for TMEM48 gene

    (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

    TMEM48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATAGTCTGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See TMEM48 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM48

    SOURCE GeneReport for Unigene cluster: Hs.476525
        SABiosciences Custom PCR Arrays for TMEM48
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM48

    Orthologs
    for TMEM48 gene

    (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 TMEM48 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tmem481 , 5 transmembrane protein 481, 5 86.11(n)1
    87.5(a)1    		   4 (50.18 cM)5
    727871  NM_028355.31  NP_082631.11 
     1073677845 
    chicken
    (Gallus gallus)    		 Aves TMEM481 transmembrane protein 48 69.74(n)
    70.81(a)    		   772284  XM_001235441.2  XP_001235442.2 
    lizard
    (Anolis carolinensis)    		 Reptilia TMEM486
    		 --
    		 69(a)
    		 1 ↔ 1
    		 4(115825546-115838573)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.142112 Xenopus laevis transcribed sequence with weak similarity more 78.66(n)    BU912532.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufk93f042 wufk93f04 75.16(n)   335236  BC053915.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG58571 CG5857 38.24(n)
    25.64(a)    		   42825  NM_142934.3  NP_651191.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea npp-226
    		 Nucleoporin ndc-1
    		 20(a)
    		 1 ↔ 1
    		 V(11730974-11733461)


    ENSEMBL Gene Tree for TMEM48 (if available)
    TreeFam Gene Tree for TMEM48 (if available) 

    Paralogs
    for TMEM48 gene

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

    Genomic Variants
    for TMEM48 gene

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

    10/1199 NCBI SNPs in TMEM48 are shown (see all 1199)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1908063651,2
    		--54230676(+) CATCTC/TTGTTT 3 -- int10--------
    rs11812051,2
    		C,F,H,--54230713(-) AAGCCA/GTAGTT 3 -- int112Minor allele frequency- G:0.05NA MN NS EA WA 1406
    rs1500773601,2
    		--54230754(+) AACTAA/CCTAGA 3 -- int10--------
    rs1383781521,2
    		--54230759(+) CCTAGA/GGGTGA 3 -- int10--------
    rs1489160031,2
    		--54230786(+) AGTAAC/TGTTGA 3 -- int10--------
    rs1435928531,2
    		--54230796(+) ACAGAC/TGTAAC 3 -- int10--------
    rs1829838461,2
    		--54230960(+) TACCAC/TGAAAC 3 -- int10--------
    rs1872885571,2
    		--54231129(+) ACACAA/CATATT 3 -- int10--------
    rs1913219451,2
    		--54231131(+) ACACAC/TATTTC 3 -- spd10--------
    rs1826238471,2
    		--54231247(+) TGACAC/TACCAA 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for TMEM48 (54231133 - 54304533 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMEM48: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM48
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM48

    Disorders / Diseases
    for TMEM48 gene

    (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.)
    About This Section
    TMEM48 for disorders           About GeneDecksing

    OMIM gene information: 610115    OMIM disorders: --

    4 diseases for TMEM48:    About MalaCards
    triple-a syndrome    leber hereditary optic neuropathy    gastroenteritis    neuropathy


    Export disorders for TMEM48 gene to outside databases

    Publications
    for TMEM48 gene

    (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 TMEM48 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with TMEM48)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 2, 3 Schirmer E.C....Gerace L. (2003)
    2. Topology of yeast Ndc1p: predictions for the human NDC1/NET3 homologue. (PubMed id 16779818)1, 3 Lau C.K....Forbes D.J. (2006)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells. (PubMed id 16600873)1, 2 Mansfeld J.... Antonin W. (2006)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)

    External Searches for TMEM48 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing TMEM48 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55706 HGNC: 25525 AceView: FLJ10407 Ensembl:ENSG00000058804 euGenes: HUgn55706
    ECgene: TMEM48 Kegg: 55706 H-InvDB: TMEM48

    Other Databases showing TMEM48 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TMEM48 gene

    (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 TMEM48 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TMEM48 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TMEM48 gene:
    Search GeneIP for patents involving TMEM48

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



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