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

TM7SF2 Gene

protein-coding   GIFtS: 64
GCID: GC11P064881

Transmembrane 7 Superfamily Member 2

  See 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)
About This Section

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

GeneCards Summary for TM7SF2 Gene: 
TM7SF2 (transmembrane 7 superfamily member 2) is a protein-coding gene. Diseases associated with TM7SF2 include follicular adenoma, and adrenocortical carcinoma, and among its related super-pathways are superpathway of cholesterol biosynthesis and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TM7SF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062 (See protein sequence)
Recommended Name: Delta(14)-sterol reductase  
Size: 418 amino acids; 46406 Da
Subcellular location: Microsome membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum
membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O76062

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

    TM7SF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TM7SF2 Protein Expression
    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
    Human Recombinant Protein Products for TM7SF2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TM7SF2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS9878250
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral to plasma membrane TAS9878250
    GO:0016020membrane ----

    TM7SF2 for ontologies           About GeneDecksing



    TM7SF2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TM7SF2 
    Cloud-Clone Corp. CLIAs for TM7SF2


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


    TM7SF2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    TM7SF2 for ontologies           About GeneDecksing


    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  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging  nervous system 
     skeleton 

    TM7SF2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TM7SF2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TM7SF2

       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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TM7SF2:
    hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidTM7SF2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TM7SF2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TM7SF2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.59
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.48
    cholesterol biosynthesis III (via desmosterol)0.59
    zymosterol biosynthesis0.46
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    Activation of Gene Expression by SREBP (SREBF)0.67

    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)

    5        Reactome Pathways for TM7SF2
        Metabolism
    Cholesterol biosynthesis
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


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


    TM7SF2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TM7SF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/20 Interacting proteins for TM7SF2 (O760623 ENSP000002792634) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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 (GO ID links to tree view):    About this table

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

    TM7SF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TM7SF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about TM7SF2 / ERG24

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    18/27 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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    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 

    24/585 AceView cDNA sequences (see all 585):

    BG742206 BM924752 BX387263 BQ439286 BG391473 BC010540 BG946028 AA360528 
    BU542527 BM910038 CR600165 BM982794 CD674281 BC009285 CR606643 BF348689 
    CR621135 AL042569 AA022454 BC010872 BG059565 AF024631 BU682796 BQ030369 

    GeneLoc Exon Structure

    5/18 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™, 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

    TM7SF2 expression in normal human tissues (normalized intensities)      TM7SF2 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
             esophageal epithelium   
     
     Adrenal Gland (Endocrine System)
             Adrenal Cortex   
     
     Esophagus
             esophageal epithelium   
     
     Eye (Sensory Organs)
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   

    See TM7SF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TM7SF2

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TM7SF2 gene from 8/14 species (see all 14)    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
    Uncharacterized protein
    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 61.38(n)
    64.88(a)
      494054  NM_001008597.1  NP_001008597.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LBR6
    Lamin B receptor
    14(a)
    possible ortholog
    2R(17608002-17611564)
    worm
    (Caenorhabditis elegans)
    Secernentea dhcr-76
    Protein DHCR-7
    23(a)
    possible ortholog
    V(20480792-20485385)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG246
    C-14 sterol reductase, acts in ergosterol biosynth...
    39(a)
    1 → many
    XIV(109095-110411)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FK1 delta(14)-sterol reductase 46.14(n)
    43.22(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)
    About This Section
    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

    TM7SF2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/177 SNPs in TM7SF2 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603414    OMIM disorders: --

    5 diseases for TM7SF2:    About MalaCards
    follicular adenoma    adrenocortical carcinoma    multiple endocrine neoplasia    adenoma
    prostatitis

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

    TM7SF2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TM7SF2 gene, integrated from 9 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. (1998)
    2. The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)1, 2, 9 Holmer L.... Worman H.J. (1998)
    3. Cloning and expression of sterol Delta14-reductase from bovine liver. (PubMed id 11784322)1, 2, 9 Roberti R.... Servillo G. (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. (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. (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. (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. (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. (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. (2010)
    10. Induction of a massive endoplasmic reticulum and peri nuclear space expansion by expression of lamin B receptor mutants and the relat ed sterol reductases TM7SF2 and DHCR7. (PubMed id 19940018)1 Zwerger M....Herrmann H. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7108 HGNC: 11863 AceView: TM7SF2andC11orf2 Ensembl:ENSG00000149809 euGenes: HUgn7108
    ECgene: TM7SF2 Kegg: 7108 H-InvDB: TM7SF2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TM7SF2 Pharmacogenomics, SNPs, Pathways

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