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

SMIM19 Gene

protein-coding   GIFtS: 33
GCID: GC08P042397

Small Integral Membrane Protein 19

(Previous name: chromosome 8 open reading frame 40)
(Previous symbol: C8orf40)
  Search for SMIM19
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 191 2
C8orf401 2 3
Chromosome 8 Open Reading Frame 401
UPF0697 Protein C8orf402

External Ids:    HGNC: 251661   Entrez Gene: 1149262   Ensembl: ENSG000001762097   UniProtKB: Q96E163   

Export aliases for SMIM19 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 SMIM19 Gene: 
SMIM19 (small integral membrane protein 19) 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_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SMIM19
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SMIM19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMIM19


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

Entrez Gene cytogenetic band: 8p11.21   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.21

SMIM19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMIM19 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P042397:  view genomic region     (about GC identifiers)

Start:
42,396,298 bp from pter      End:
42,409,603 bp from pter
Size:
13,306 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: SMI19_HUMAN, Q96E16 (See protein sequence)
Recommended Name: Small integral membrane protein 19  
Size: 107 amino acids; 12439 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=AAH13035.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG34873.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2R4S6 D3DSY4

Explore the universe of human proteins at neXtProt for SMIM19: NX_Q96E16

Explore proteomics data for SMIM19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96E16

  • SMIM19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMIM19 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001129146.1  NP_001129147.1  NP_001129148.1  NP_612445.2  

    ENSEMBL proteins: 
     ENSP00000391549   ENSP00000430387   ENSP00000405694   ENSP00000408997   ENSP00000430708  
     ENSP00000390750   ENSP00000429586  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016021integral to membrane IEA--

    SMIM19 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q96E16

    UniProtKB/Swiss-Prot: SMI19_HUMAN, Q96E16
    Similarity: Belongs to the SMIM19 family


    (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

    Phenotypes:
         1 GenomeRNAi human phenotype for SMIM19:
     Increased gamma-H2AX phosphory 

    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 SMIM19

    (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 SMIM19 (SMI19)

    Search CenterWatch for drugs/clinical trials and news about SMIM19 / SMI19

    (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 SMIM19 gene (4 alternative transcripts): 
    NM_001135674.1  NM_001135675.1  NM_001135676.1  NM_138436.3  

    Unigene Cluster for SMIM19:

    Small integral membrane protein 19
    Hs.655320  [show with all ESTs]
    Unigene Representative Sequence: NM_001135674
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438528(uc011lcv.2) ENST00000518574 ENST00000417410(uc003xph.3 uc003xpg.3 uc010lxo.3)
    ENST00000414154 ENST00000498447 ENST00000529505 ENST00000416469 ENST00000490331

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    Additional mRNA sequence: 

    AK311932.1 BC013035.2 

    11 DOTS entries:

    DT.115909  DT.120638618  DT.95071778  DT.95272133  DT.120638627  DT.120638616  DT.40132132  DT.95272132 
    DT.120638606  DT.95146353  DT.97807225 

    24/175 AceView cDNA sequences (see all 175):

    BI861507 AI684590 BM876313 AI802613 BC013035 BM894029 BM704526 CR616059 
    AI269221 AI421899 AI754215 AI421283 BF589744 BM313789 BQ771532 AI031625 
    BU783796 CR619782 BM506691 AI459646 AI016189 BM671519 AA878013 AA648471 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SMIM19 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SMIM19

    (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
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    See SMIM19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMIM19

    SOURCE GeneReport for Unigene cluster: Hs.655320
        SABiosciences Custom PCR Arrays for SMIM19
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMIM19

    (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 SMIM19 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AI3168071 , 5 expressed sequence AI3168071, 5 85.05(n)1
    85.98(a)1
      8 (11.42 cM)5
    1020321  NM_001146117.11  NP_001139589.11 
     224626155 
    chicken
    (Gallus gallus)
    Aves C4H8orf401 chromosome 4 open reading frame, human C8orf40 68.25(n)
    66.67(a)
      422492  NM_001197056.1  NP_001183985.1 
    lizard
    (Anolis carolinensis)
    Reptilia C8ORF406
    Uncharacterized protein
    63(a)
    1 ↔ 1
    6(58845830-58851229)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151692 Xenopus laevis transcribed sequences 75.05(n)    BJ051479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1140401 zgc:114040 70.87(n)
    72.82(a)
      565058  NM_001025535.2  NP_001020706.2 


    ENSEMBL Gene Tree for SMIM19 (if available)
    TreeFam Gene Tree for SMIM19 (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

    10/186 SNPs in SMIM19 are shown (see all 186)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs768900141,2
    C--42399391(+) CTACTA/GAAAAT 4 -- int10--------
    rs1897781351,2
    --42399446(+) CTAGTC/TAGGAG 4 -- int10--------
    rs1807798721,2
    --42399464(+) CAGGGC/GAATGG 4 -- int10--------
    rs1855793391,2
    --42399470(+) AATGGG/TGTGAA 4 -- int10--------
    rs736750851,2
    C--42399654(+) TATAGT/CCTAGT 4 -- int15Minor allele frequency- C:0.13WA CSA NA EA 361
    rs773691391,2
    C--42399666(+) TTTAAA/TCAATA 4 -- int10--------
    rs562672691,2
    C--42399667(+) TTAAAA/C/TAATAT 4 -- int10--------
    rs786461281,2
    C--42399668(+) TAAACA/TATATT 4 -- int10--------
    rs1384012401,2
    --42399771(+) CACCCA/GTAGTT 4 -- int10--------
    rs132732041,2
    C,F,H--42399906(+) AAAGGC/TAGAAA 4 -- int122Minor allele frequency- N:0.00EA NA NS 2442

    HapMap Linkage Disequilibrium report for SMIM19 (42396298 - 42409603 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SMIM19: --
    SABiosciences Cancer Mutation PCR Assays
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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
      --

    (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 SMIM19 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SMIM19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    5. 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)
    6. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 114926 HGNC: 25166 AceView: LOC114926 Ensembl:ENSG00000176209 euGenes: HUgn114926
    ECgene: SMIM19 H-InvDB: SMIM19

    (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 SMIM19 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 SMIM19 gene:
    Search GeneIP for patents involving SMIM19

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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)
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