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TM7SF2 Gene

protein-coding   GIFtS: 64
GCID: GC11P064881

Transmembrane 7 Superfamily Member 2

  Search for TM7SF2
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 7 Superfamily Member 21 2 3     EC 1.3.1.703 8
ANG12 3 5     DHCR14A2
Delta(14)-Sterol Reductase1 2     NET472
Another New Gene 1 Protein2 3     delta-14-SR2
Putative Sterol Reductase SR-12 3     Delta-14-SR3
Sterol C14-Reductase2 3     EC 1.3.18
C-14 Sterol Reductase2 3     

External Ids:    HGNC: 118631   Entrez Gene: 71082   Ensembl: ENSG000001498097   OMIM: 6034145   UniProtKB: O760623   

Export aliases for TM7SF2 gene to outside databases

Previous GC identifers: GC11P067395 GC11P066560 GC11P065129 GC11P064654 GC11P064635 GC11P061206


(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 TM7SF2 Gene:
TM7SF2 (transmembrane 7 superfamily member 2) is a protein-coding gene. GO annotations related to this gene include delta14-sterol reductase activity. An important paralog of this gene is LBR.

UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062
Function: Involved in the conversion of lanosterol to cholesterol

Gene Wiki entry for TM7SF2 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_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TM7SF2 gene promoter:
         NF-1/L   NF-1   Bach2   C/EBPalpha   c-Ets-1   Max   HSF2   PPAR-gamma2   ATF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTM7SF2 promoter sequence
   Search Chromatin IP Primers for TM7SF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TM7SF2


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1

TM7SF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM7SF2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P064881:  view genomic region     (about GC identifiers)

Start:
64,879,317 bp from pter      End:
64,883,856 bp from pter
Size:
4,540 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: ERG24_HUMAN, O76062 (See protein sequence)
Recommended Name: Delta(14)-sterol reductase  
Size: 418 amino acids; 46406 Da
Sequence caution: Sequence=AAC21450.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
Sequence=AAC21457.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
Secondary accessions: A8K4H0 O95982 Q8IY06 Q96E64 Q96GZ1
Alternative splicing: 2 isoforms:  O76062-1   O76062-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TM7SF2: NX_O76062

Explore proteomics data for TM7SF2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys397
  • 2 DME Specific Peptides for TM7SF2 (O76062)
     HLLPYFY  VPFTYSLQA 


    See TM7SF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001264162.1  NP_003264.2  

    ENSEMBL proteins: 
     ENSP00000432171   ENSP00000279263   ENSP00000435972   ENSP00000432187   ENSP00000435458  
     ENSP00000433325   ENSP00000329520   ENSP00000431300   ENSP00000436370   ENSP00000433275  
     ENSP00000434447   ENSP00000432413   ENSP00000434598   ENSP00000431685   ENSP00000436233  
     ENSP00000441215  
    Reactome Protein details: O76062

    TM7SF2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TM7SF2

     
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    Search eBioscience for ELISAs for TM7SF2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR018083 Sterol_reductase_CS
     IPR001171 Ergosterol_biosynth_ERG4_ERG24

    Graphical View of Domain Structure for InterPro Entry O76062

    ProtoNet protein and cluster: O76062

    1 Blocks protein domain: IPB001171 ERG4/ERG24 ergosterol biosynthesis protein

    UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062
    Similarity: Belongs to the ERG4/ERG24 family


    Find genes that share domains with TM7SF2           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: ERG24_HUMAN, O76062
    Function: Involved in the conversion of lanosterol to cholesterol
    Catalytic activity: 4,4-dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol + NADP(+) =
    4,4-dimethyl-5-alpha-cholesta-8,14,24-trien-3-beta-ol + NADPH

         Genatlas biochemistry entry for TM7SF2:
    seven pass transmembrane superfamily,member 2,located in the endoplasmic reticulum and continuous outer nuclear
    membrane,widely expressed,G protein coupled receptor superfamily in the MEN1 region,LBR superfamily

         Enzyme Numbers (IUBMB): EC 1.3.1.701 2 EC 1.3.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ----
    GO:0050613delta14-sterol reductase activity IEA--
         
    Find genes that share ontologies with TM7SF2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TM7SF2:
     Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tm7sf2):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging  nervous system 
     skeleton 

    Find genes that share phenotypes with TM7SF2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TM7SF2: Tm7sf2tm1Fdp Tm7sf2tm1Riro

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TM7SF2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TM7SF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TM7SF2

    miRNA
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    miRTarBase miRNAs that target TM7SF2:
    hsa-mir-193b-3p (MIRT016552), hsa-mir-335-5p (MIRT018944)

    Block miRNA regulation of human, mouse, rat TM7SF2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TM7SF2:
    hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidTM7SF2 3' UTR sequence
    Inhib. RNA
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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
    ERG24_HUMAN, O76062: Microsome membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    lysosome1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS9878250
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral component of plasma membrane TAS9878250
    GO:0016020membrane ----
    GO:0043235receptor complex IDA--

    Find genes that share ontologies with TM7SF2           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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    SuperPaths for TM7SF2 About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    zymosterol biosynthesis0.00
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis III (via desmosterol)0.00
    Steroid biosynthesis0.57
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75


    Find genes that share SuperPaths with TM7SF2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for TM7SF2
        zymosterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis III (via desmosterol)

    2 Reactome Pathways for TM7SF2
        Cholesterol biosynthesis
    Activation of gene expression by SREBF (SREBP)


    2 Kegg Pathways  (Kegg details for TM7SF2):
        Steroid biosynthesis
    Metabolic pathways

        Pathway & Disease-focused RT2 Profiler PCR Array including TM7SF2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TM7SF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TM7SF2 (O760623 ENSP000002792634) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAP2AP101143, ENSP000002453044I2D: score=2 STRING: ENSP00000245304
    PLSCR1O151623I2D: score=1 
    PXNP490233I2D: score=1 
    DHCR24ENSP000003603164STRING: ENSP00000360316
    EBPENSP000004170524STRING: ENSP00000417052
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with TM7SF2           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 TM7SF2 (ERG24)

    6 HMDB Compounds for TM7SF2    About this table
    CompoundSynonyms CAS #PubMed Ids
    4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol14-demethyllanosterol (see all 11)7448-02-4--
    4,4-Dimethylcholesta-8,14,24-trienol(3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol (see all 11)64284-64-6--
    4a-Methylfecosterol4alpha-Methylfecosterol ----
    Delta 8,14 -Sterol4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol (see all 5)74635-33-9--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    2 Novoseek inferred chemical compound relationships for TM7SF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fenpropimorph 88 1 12644676 (1)
    sterol 74.8 7 10859167 (2), 16784888 (2), 9630650 (1), 11784322 (1)



    Find genes that share compounds with TM7SF2           About GenesLikeMe



    (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 TM7SF2 gene (2 alternative transcripts): 
    NM_001277233.1  NM_003273.3  

    Unigene Cluster for TM7SF2:

    Transmembrane 7 superfamily member 2
    Hs.31130  [show with all ESTs]
    Unigene Representative Sequence: AK296441
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000526809 ENST00000279263(uc001oct.3 uc010rny.2 uc001ocu.3)
    ENST00000524986 ENST00000528026 ENST00000533766 ENST00000534371 ENST00000533646
    ENST00000529601 ENST00000525385 ENST00000345348 ENST00000531321 ENST00000529292
    ENST00000529414 ENST00000526085 ENST00000530650(uc001ocv.3) ENST00000530750
    ENST00000524690 ENST00000530892
    miRNA
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TM7SF2
      QuantiFast Probe-based Assays in human, mouse, rat TM7SF2

    Additional mRNA sequence: 

    AF096304.1 AK290935.1 AK296441.1 BC009052.1 BC012857.1 BC038353.1 

    16 DOTS entries:

    DT.114124  DT.100814021  DT.100729221  DT.100814018  DT.100026250  DT.100814023  DT.97846353  DT.97846352 
    DT.95260356  DT.95226501  DT.102835684  DT.100814019  DT.100814022  DT.120731359  DT.95226487  DT.97801364 

    Selected AceView cDNA sequences (see all 585):

    BU849815 AI201450 BF348689 BM924752 BG742206 BU682796 AW731818 CD674281 
    BF528048 BC009285 CR600165 AI539419 BQ677544 AI015554 BU848642 BQ440980 
    AA360528 AI458806 CD108198 CR613021 AI052216 CR604066 AW015302 BQ950165 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TM7SF2 (see all 18)    About this scheme

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

    ExUns: 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
    SP1:  -                 -                     
    SP2:  -                 -                     
    SP3:  -                 -                     
    SP4:                                          
    SP5:  -                                       


    ECgene alternative splicing isoforms for TM7SF2

    (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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    TM7SF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCCACTCA
    TM7SF2 Expression
    About this image


    TM7SF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Adipose (Muscoskeletal System)
     
     Adrenal Gland (Endocrine System)
     
     Prostate (Endocrine System)
    TM7SF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TM7SF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31130

    UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062
    Tissue specificity: Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary,
    prostate, and testis, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or
    peripheral blood leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including TM7SF2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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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 eukaryotes.

    Orthologs for TM7SF2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tm7sf21 , 5 transmembrane 7 superfamily member 21, 5 84.61(n)1
    85.89(a)1
      19 (4.34 cM)5
    731661  NM_028454.21  NP_082730.21 
     60628215 
    lizard
    (Anolis carolinensis)
    Reptilia TM7SF26
    transmembrane 7 superfamily member 2
    67(a)
    1 ↔ 1
    GL344606.1(19049-26968)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688492 hypothetical protein MGC68849 72.96(n)    BC055976.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tm7sf21 transmembrane 7 superfamily member 2 61.71(n)
    65.64(a)
      494054  NM_001008597.1  NP_001008597.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0037451 AgaP_AGAP003745 48.36(n)
    34.91(a)
      1271476  XM_310276.4  XP_310276.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG246
    C-14 sterol reductase, acts in ergosterol biosynth...
    36(a)
    1 → many
    XIV(109095-110411) YNL280C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FK1 FK 46.73(n)
    45.71(a)
      824460  NM_115154.2  NP_566975.1 


    ENSEMBL Gene Tree for TM7SF2 (if available)
    TreeFam Gene Tree for TM7SF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TM7SF2 gene
    LBR2  DHCR72  
    2 SIMAP similar genes for TM7SF2 using alignment to 15 protein entries:     ERG24_HUMAN (see all proteins):
    LBR    DHCR7

    Find genes that share paralogs with TM7SF2           About GenesLikeMe



    (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 TM7SF2 (see all 177)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49302841,2
    C,H--61206726(+) CTGCCC/GGGGCT 1 -- nc-transcript-variant13Minor allele frequency- G:0.00NS EA NA WA CSA 741
    rs776719131,2
    C--64796934(+) TGCGGG/TCCGTC 1 -- us2k10--------
    rs2011556941,2
    --64796946(+) TGAAGC/TGGGTG 1 -- us2k10--------
    rs5432941,2
    C,H--64796967(-) GATGGC/GGGTGG 1 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs769896921,2
    C,F--64797067(+) TCACTG/AGCAGT 1 -- us2k15Minor allele frequency- A:0.10NA CSA WA EA 245
    rs1434086411,2
    C--64797093(+) GGACA-/TGTG  
            
    TGTGT
    1 -- us2k10--------
    rs1416709931,2
    --64797193(+) GGCTGA/GGGAGT 1 -- us2k10--------
    rs1115237001,2
    F--64797217(+) GTCTTG/ATTCCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs750965641,2
    C,F--64797263(+) TTACCT/CGTGGA 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1848137851,2
    --64797281(+) AGGCTA/CAGGGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TM7SF2 (64879317 - 64883856 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TM7SF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1174n71CNV Loss21882294
    nsv897712CNV Loss21882294
    nsv526181CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TM7SF2
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    (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: 603414    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for TM7SF2:
    Adrenocortical carcinoma

    Find genes that share disorders with TM7SF2           About GenesLikeMe

    Genetic Association Database (GAD): TM7SF2
    Human Genome Epidemiology (HuGE) Navigator: TM7SF2 (1 document)

    Export disorders for TM7SF2 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 TM7SF2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with TM7SF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13. (PubMed id 9615229)1, 2, 3, 9 Lemmens I.H.... Van de Ven W.J.M. (Genomics 1998)
    2. The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)1, 2, 9 Holmer L.... Worman H.J. (Genomics 1998)
    3. Cloning and expression of sterol Delta14-reductase from bovine liver. (PubMed id 11784322)1, 2, 9 Roberti R.... Servillo G. (Eur. J. Biochem. 2002)
    4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    5. 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)
    6. Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. (PubMed id 9286704)1, 3 Lemmens I....Thakker R.V. (Genomics 1997)
    7. Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants. (PubMed id 11937680)1, 9 Prakash A. and Kasbekar D.P. (J. Biosci. 2002)
    8. Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis. (PubMed id 16784888)1, 9 Bennati A.M....Roberti R. (Biochim. Biophys. Acta 2006)
    9. Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box. (PubMed id 20138239)1 Schiavoni G....Roberti R. (Biochim. Biophys. Acta 2010)
    10. Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. (PubMed id 19940018)1 Zwerger M....Herrmann H. (Mol. Biol. Cell 2010)

    (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: 7108 HGNC: 11863 AceView: TM7SF2andC11orf2 Ensembl:ENSG00000149809 euGenes: HUgn7108
    ECgene: TM7SF2 Kegg: 7108 H-InvDB: TM7SF2

    (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 TM7SF2 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 TM7SF2 gene:
    Search GeneIP for patents involving TM7SF2

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



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