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

SMIM20 Gene

protein-coding   GIFtS: 29
GCID: GC04P025865

Small Integral Membrane Protein 20

(Previous name: chromosome 4 open reading frame 52)
(Previous symbol: C4orf52)
  Search for SMIM20
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
Small Integral Membrane Protein 201 2
C4orf521 2 3
Chromosome 4 Open Reading Frame 521

External Ids:    HGNC: 372601   Entrez Gene: 3892032   Ensembl: ENSG000002503177   UniProtKB: Q8N5G03   

Export aliases for SMIM20 gene to outside databases


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

GeneCards Summary for SMIM20 Gene: 
SMIM20 (small integral membrane protein 20) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006316.16  NC_018915.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SMIM20
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SMIM20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMIM20


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

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

SMIM20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMIM20 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P025865:  view genomic region     (about GC identifiers)

Start:
25,863,452 bp from pter      End:
25,931,501 bp from pter
Size:
68,050 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: SMI20_HUMAN, Q8N5G0 (See protein sequence)
Recommended Name: Small integral membrane protein 20  
Size: 168 amino acids; 18403 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=AAH32431.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: C9JYT8 Q9BRT5
Alternative splicing: 2 isoforms:  Q8N5G0-1   Q8N5G0-2   

Explore the universe of human proteins at neXtProt for SMIM20: NX_Q8N5G0

Explore proteomics data for SMIM20 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N5G0

  • SMIM20 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMIM20 Protein Expression
    REFSEQ proteins: NP_001138904.1  
    ENSEMBL proteins: 
     ENSP00000427407   ENSP00000429820  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    SMIM20 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


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

    ProtoNet protein and cluster: Q8N5G0


    (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

    Animal Models:
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMIM20

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

    Browse Tocris compounds for SMIM20 (SMI20)

    Search CenterWatch for drugs/clinical trials and news about SMIM20 / SMI20

    (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,
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    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 SMIM20 gene: 
    NM_001145432.1  

    Unigene Cluster for SMIM20:

    Small integral membrane protein 20
    Hs.479386  [show with all ESTs]
    Unigene Representative Sequence: NM_001145432
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000515764 ENST00000506197(uc003grw.4) ENST00000514384 ENST00000522137

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    Additional mRNA sequence: 

    BC006003.1 BC014348.1 BC032431.1 BC040154.1 BC046171.2 BC062747.1 BC086307.1 

    6 DOTS entries:

    DT.446367  DT.100816054  DT.95252895  DT.95369490  DT.100816053  DT.40110377 

    24/149 AceView cDNA sequences (see all 149):

    AA553753 AA040529 BF063707 N44171 BC040154 BI963902 AA040530 BF000258 
    AA716182 CB160607 AA287693 BC062747 AA258819 CA844137 AA075442 CK903819 
    BC046171 BG392662 AI652316 AA737562 CD366706 AI150975 AA075393 BU678992 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    SMIM20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SMIM20 Expression
    About this image


    See SMIM20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMIM20

    SOURCE GeneReport for Unigene cluster: Hs.479386
        SABiosciences Custom PCR Arrays for SMIM20
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMIM20

    (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 chordates.

    Orthologs for SMIM20 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1810013D10Rik1 , 5 RIKEN cDNA 1810013D10 gene1, 5 88.89(n)1
    92.42(a)1
      5 (29.05 cM)5
    662781  NM_001145433.11  NP_001138905.11 
     532671065 
    chicken
    (Gallus gallus)
    Aves C4H4orf521 chromosome 4 open reading frame, human C4orf52 77.11(n)
    76.12(a)
      769392  NM_001145430.1  NP_001138902.1 
    lizard
    (Anolis carolinensis)
    Reptilia C4ORF526
    Uncharacterized protein
    74(a)
    1 ↔ 1
    GL343348.1(444194-452913)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.39112 Xenopus laevis transcribed sequences 75(n)    BG656930.1 
    zebrafish
    (Danio rerio)
    Actinopterygii SMIM206
    small integral membrane protein 20
    56(a)
    1 ↔ 1
    7(62646745-62652546)


    ENSEMBL Gene Tree for SMIM20 (if available)
    TreeFam Gene Tree for SMIM20 (if available)

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

    (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

    10/306 SNPs in SMIM20 are shown (see all 306)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1509009971,2
    C--25913818(+) TCCTGC/GGTGCC 1 -- us2k10--------
    rs762797181,2
    C,F--25913839(+) TGTGAC/TGAGGA 1 -- us2k13Minor allele frequency- T:0.14WA NA EA 358
    rs1834514521,2
    C--25913942(+) GAAAAC/GAGTGG 1 -- us2k10--------
    rs1859882851,2
    --25913972(+) GGTACC/TATTCA 1 -- us2k10--------
    rs1905478791,2
    --25913994(+) GAAGTA/GGCCAC 1 -- us2k10--------
    rs1831483441,2
    --25914030(+) CTACAC/TCTGGG 1 -- us2k10--------
    rs595102231,2
    --25914151(+) TTCCAC/GCTATT 1 -- us2k10--------
    rs1397757701,2
    C--25914210(+) ACGCCC/TGGCTA 1 -- us2k10--------
    rs1158875991,2
    C,F--25914426(+) GTCCTC/TATCCT 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs76737001,2
    C,F,H--25914528(+) ACGTGT/CCGGCA 1 -- us2k14Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for SMIM20 (25863452 - 25931501 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SMIM20: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SMIM20
    DNA2.0 Custom Variant and Variant Library Synthesis for SMIM20

    (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
      --

    (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 SMIM20 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SMIM20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 389203 HGNC: 37260 AceView: LOC389203 Ensembl:ENSG00000250317 euGenes: HUgn389203
    ECgene: SMIM20 H-InvDB: SMIM20

    (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 SMIM20 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 SMIM20 gene:
    Search GeneIP for patents involving SMIM20

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     inGenious Targeting Laboratory - Custom generated mouse model solutions for SMIM20
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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