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

SDR9C7 Gene

protein-coding   GIFtS: 47
GCID: GC12M057316

Short Chain Dehydrogenase/Reductase Family 9C, Member 7

  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
Short Chain Dehydrogenase/Reductase Family 9C, Member 71 2     Orphan Short-Chain Dehydrogenase / Reductase2
SDRO2 3 5     Retinol Dehydrogenase Similar Protein2
Orphan Short-Chain Dehydrogenase/Reductase2 3     Short-Chain Dehydrogenase/Reductase Family 9C Member 72
RDH-S2 3     EC 1.1.1.-3
RDHS2 3     EC 1.1.18
SDR-O2 3     

External Ids:    HGNC: 299581   Entrez Gene: 1212142   Ensembl: ENSG000001704267   OMIM: 6097695   UniProtKB: Q8NEX93   

Export aliases for SDR9C7 gene to outside databases

Previous GC identifers: GC12M055604 GC12M054355


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

Entrez Gene summary for SDR9C7 Gene:
This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not
been shown to have retinoid or dehydrogenase activities. (provided by RefSeq, Apr 2010)

GeneCards Summary for SDR9C7 Gene: 
SDR9C7 (short chain dehydrogenase/reductase family 9C, member 7) is a protein-coding gene. Diseases associated with SDR9C7 include fundus albipunctatus, and fundus dystrophy. GO annotations related to this gene include retinol dehydrogenase activity and nucleotide binding. An important paralog of this gene is DHRS9.

UniProtKB/Swiss-Prot: DR9C7_HUMAN, Q8NEX9
Function: Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has
apparently no steroid dehydrogenase activity




(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_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDR9C7 gene promoter:
         c-Fos   p53   Pax-5   AP-1   HNF-1A   Ik-2   FOXO4   HNF-1   c-Jun   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDR9C7 promoter sequence
   Search SABiosciences Chromatin IP Primers for SDR9C7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDR9C7


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

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.3

SDR9C7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SDR9C7 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M057316:  view genomic region     (about GC identifiers)

Start:
57,316,938 bp from pter      End:
57,328,189 bp from pter
Size:
11,252 bases      Orientation:
minus 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: DR9C7_HUMAN, Q8NEX9 (See protein sequence)
Recommended Name: Short-chain dehydrogenase/reductase family 9C member 7  
Size: 313 amino acids; 35263 Da
Subcellular location: Cytoplasm. Note=Granular distribution in the whole cell
Secondary accessions: B3KVB4

Explore the universe of human proteins at neXtProt for SDR9C7: NX_Q8NEX9

Explore proteomics data for SDR9C7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEX9

  • 2 DME Specific Peptides for SDR9C7 (Q8NEX9)
     GVEAFSD  TGCDSGFG 

    SDR9C7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SDR9C7 Protein Expression
    REFSEQ proteins: NP_683695.1  
    ENSEMBL proteins: 
     ENSP00000293502  

    Human Recombinant Protein Products for SDR9C7: 
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    Novus Biologicals SDR9C7 Lysate
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SDR9C7 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SDR9C7 for ontologies           About GeneDecksing



    SDR9C7 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRC2: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q8NEX9

    ProtoNet protein and cluster: Q8NEX9

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: DR9C7_HUMAN, Q8NEX9
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    SDR9C7 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: DR9C7_HUMAN, Q8NEX9
    Function: Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has
    apparently no steroid dehydrogenase activity

         Enzyme Numbers (IUBMB): EC 1.1.12 EC 1.1.1.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004745retinol dehydrogenase activity IDA19703561
    GO:0016491oxidoreductase activity ----
         
    SDR9C7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SDR9C7:
     Decreased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SDR9C7 
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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 SDR9C7

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0055114oxidation-reduction process IDA19703561

    SDR9C7 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SDR9C7 (DR9C7)

    Search CenterWatch for drugs/clinical trials and news about SDR9C7 / DR9C7

    (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 SDR9C7 gene: 
    NM_148897.2  

    Unigene Cluster for SDR9C7:

    Short chain dehydrogenase/reductase family 9C, member 7
    Hs.380178  [show with all ESTs]
    Unigene Representative Sequence: AK122782
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000293502(uc010sqw.2)
    miRNA
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    Additional mRNA sequence: 

    AK122782.1 AY044434.1 BC101551.1 BC101553.1 

    1 DOTS entry:

    DT.100000554 

    4 AceView cDNA sequences:

    NM_148897 AY044434 AK122782 BU531963 

    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

    SDR9C7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAACATT
    SDR9C7 Expression
    About this image


    See SDR9C7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SDR9C7

    SOURCE GeneReport for Unigene cluster: Hs.380178

    UniProtKB/Swiss-Prot: DR9C7_HUMAN, Q8NEX9
    Tissue specificity: Highly expressed in liver

        SABiosciences Custom PCR Arrays for SDR9C7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDR9C7

    (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 SDR9C7 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sdr9c71 , 5 4short chain dehydrogenase/reductase family 9C, member more1, 5 83.6(n)1
    84.66(a)1
      10 (76.39 cM)5
    700611  NM_027301.31  NP_081577.11 
     1278985185 
    zebrafish
    (Danio rerio)
    Actinopterygii dhrs96
    dehydrogenase/reductase (SDR family) member 9
    45(a)
    1 → many
    9(49753358-49783501)


    ENSEMBL Gene Tree for SDR9C7 (if available)
    TreeFam Gene Tree for SDR9C7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SDR9C7 gene
    DHRS92  HSD11B22  HSD17B62  HSD17B22  BDH12  RDH162  RDH82  DHRS7B2  
    DHRS72  HSD17B12  KDSR2  DHRS7C2  RDH52  
    7 SIMAP similar genes for SDR9C7 using alignment to 1 protein entry:     DR9C7_HUMAN:
    RDH16    HSD17B6    RDHL    RDH5    DHRS9    BDH1
    HSD17B2

    SDR9C7 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

    10/316 SNPs in SDR9C7 are shown (see all 316)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs772181701,2
    F--57316470(+) AATTTG/CAGAAA 1 -- ds50013Minor allele frequency- C:0.22CSA WA 122
    rs1815058251,2
    C--57316581(+) TTCCCA/CCTCTG 1 -- ds50010--------
    rs1170275761,2
    C,F--57316603(+) ACTTAT/GTCTAT 1 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1868071081,2
    --57316614(+) GGAATA/TATTGG 1 -- ds50010--------
    rs1489688411,2
    --57316623(+) GGTGGC/TTCCAA 1 -- ds50010--------
    rs1921112301,2
    --57316632(+) AAGTTG/TCTCGG 1 -- ds50010--------
    rs1821260051,2
    C--57316635(+) TTGCTC/TGGGTG 1 -- ds50010--------
    rs1437687761,2
    --57316659(+) TAGGTC/GCTTGT 1 -- ds50010--------
    rs1876728031,2
    --57316693(+) TATCTC/TAGTCC 1 -- ds50010--------
    rs1166481401,2
    F--57316852(+) CTTCTA/GTCGCT 1 -- ds50011Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for SDR9C7 (57316938 - 57328189 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SDR9C7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv438213CNV Loss16468122
    nsv899107CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SDR9C7

    (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: 609769    OMIM disorders: --

    5 diseases for SDR9C7:    About MalaCards
    fundus albipunctatus    fundus dystrophy    leber congenital amaurosis    tuberculosis
    retinitis

    1 disease from the University of Copenhagen DISEASES database for SDR9C7:
    Fundus dystrophy

    SDR9C7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SDR9C7

    Export disorders for SDR9C7 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 SDR9C7 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SDR9C7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SDR-O: an orphan short-chain dehydrogenase/reductase localized at mouse chromosome 10/human chromosome 12. (PubMed id 12234675)1, 2, 3, 9 Chen W.... Napoli J.L. (2002)
    2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 2, 3 Persson B.... Oppermann U. (2009)
    3. In search for function of two human orphan SDR enzymes: Hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain dehydrogenase/reductase-orphan (SDR-O). (PubMed id 19703561)1, 2, 9 Kowalik D.... Moeller G. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. SDR9C7 promotes lymph node metastases in patients with esophageal squamous cell carcinoma. (PubMed id 23341893)1 Tang S....Fan D. (2013)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    8. 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)
    9. 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)
    10. Medium- and short-chain dehydrogenase/reductase gene and protein families : Medium-chain and short-chain dehydrogenases/reductases in retinoid metabolism. (PubMed id 19011747)9 ParAcs X....Duester G. (2008)

    (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: 121214 HGNC: 29958 AceView: SDR-O Ensembl:ENSG00000170426 euGenes: HUgn121214
    ECgene: SDR9C7 H-InvDB: SDR9C7

    (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 SDR9C7 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 SDR9C7 gene:
    Search GeneIP for patents involving SDR9C7

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    (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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