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SDCCAG8 Gene

protein-coding   GIFtS: 60
GCID: GC01P243419

Serologically Defined Colon Cancer Antigen 8

  See SDCCAG8-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)
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Aliases
Serologically Defined Colon Cancer Antigen 81 2     hCCCAP2 3
Antigen NY-CO-82 3     CCCAP SLSN72 5
Centrosomal Colon Cancer Autoantigen Protein2 3     BBS162
CCCAP2 3     NY-CO-82
NPHP102 3     SLSN72

External Ids:    HGNC: 106711   Entrez Gene: 108062   Ensembl: ENSG000000542827   OMIM: 6135245   UniProtKB: Q86SQ73   

Export aliases for SDCCAG8 gene to outside databases

Previous GC identifers: GC01P241306 GC01P238665 GC01P239621 GC01P240366 GC01P239745 GC01P241485 GC01P213799


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SDCCAG8 Gene:
This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome
during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. (provided by
RefSeq, Oct 2010)

GeneCards Summary for SDCCAG8 Gene:
SDCCAG8 (serologically defined colon cancer antigen 8) is a protein-coding gene. Diseases associated with SDCCAG8 include senior-loken syndrome 7, and senior-loken syndrome.

UniProtKB/Swiss-Prot: SDCG8_HUMAN, Q86SQ7
Function: Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May
play a role in ciliogenesis

Gene Wiki entry for SDCCAG8 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_000001.10  NT_167186.2  NT_187519.1  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SDCCAG8 gene promoter:
         NCX/Ncx   p300   Pax-2   Lmo2   Pax-2a   LCR-F1   c-Ets-1   Egr-2   Pax-2b   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SDCCAG8 promoter sequence
   Search Chromatin IP Primers for SDCCAG8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SDCCAG8


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

Entrez Gene cytogenetic band: 1q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q43

SDCCAG8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SDCCAG8 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P243419:  view genomic region     (about GC identifiers)

Start:
243,419,307 bp from pter      End:
243,663,394 bp from pter
Size:
244,088 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SDCG8_HUMAN, Q86SQ7 (See protein sequence)
Recommended Name: Serologically defined colon cancer antigen 8  
Size: 713 amino acids; 82682 Da
Subunit: Homodimer (By similarity). Interacts with OFD1; the interaction is direct. Interacts with FAM161A
Secondary accessions: O60527 Q3ZCR6 Q8N5F2 Q9P0F1
Alternative splicing: 4 isoforms:  Q86SQ7-1   Q86SQ7-2   Q86SQ7-3   Q86SQ7-4   

Explore the universe of human proteins at neXtProt for SDCCAG8: NX_Q86SQ7

Explore proteomics data for SDCCAG8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SDCCAG8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006633.1  
    ENSEMBL proteins: 
     ENSP00000355499   ENSP00000473868   ENSP00000410200   ENSP00000348137   ENSP00000375721  
     ENSP00000341260  
    Reactome Protein details: Q86SQ7

    SDCCAG8 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SDCCAG8

     
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    antibodies-online proteins for SDCCAG8 (3 products) 

     
    antibodies-online peptides for SDCCAG8

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q86SQ7


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: SDCG8_HUMAN, Q86SQ7
    Function: Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May
    play a role in ciliogenesis

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with SDCCAG8           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SDCCAG8:
     Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sdccag8):
     craniofacial  digestive/alimentary  limbs/digits/tail  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with SDCCAG8           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SDCCAG8

    miRNA
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    miRTarBase miRNAs that target SDCCAG8:
    hsa-mir-124-3p (MIRT022273), hsa-mir-335-5p (MIRT017025)

    Block miRNA regulation of human, mouse, rat SDCCAG8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SDCCAG8:
    hsa-miR-3664-5p
    SwitchGear 3'UTR luciferase reporter plasmidSDCCAG8 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
    SDCG8_HUMAN, Q86SQ7: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cell
    junction. Note=Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell
    cycle
    SDCG8_HUMAN, Q86SQ7: Isoform 2: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--
    GO:0005829cytosol TAS--
    GO:0005911cell-cell junction IDA--

    Find genes that share ontologies with SDCCAG8           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 SDCCAG8 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with SDCCAG8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for SDCCAG8
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SDCCAG8
    Interactions:

        Search GeneGlobe Interaction Network for SDCCAG8

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

    Selected Interacting proteins for SDCCAG8 (Q86SQ71, 2, 3 ENSP000003554994) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSC1Q925743, ENSP000002985524I2D: score=2 STRING: ENSP00000298552
    TRAF6Q9Y4K33I2D: score=1 
    ALMS1ENSP000002644484STRING: ENSP00000264448
    CEP152ENSP000003822714STRING: ENSP00000382271
    CEP164ENSP000002789354STRING: ENSP00000278935
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0030010establishment of cell polarity ISS--
    GO:0035148tube formation ISS--

    Find genes that share ontologies with SDCCAG8           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 SDCCAG8 (SDCG8)



    (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 SDCCAG8 gene: 
    NM_006642.3  

    Unigene Cluster for SDCCAG8:

    Serologically defined colon cancer antigen 8
    Hs.591530  [show with all ESTs]
    Unigene Representative Sequence: BX537630
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490065 ENST00000366541(uc001hzw.3 uc010pyk.2 uc001hzx.3)
    ENST00000491888 ENST00000482234 ENST00000476722(uc001hzy.1) ENST00000435549
    ENST00000496361 ENST00000463012 ENST00000493334 ENST00000463042 ENST00000497459
    ENST00000355875(uc010pyl.2) ENST00000391846 ENST00000343783
    miRNA
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    hsa-miR-3664-5p
    SwitchGear 3'UTR luciferase reporter plasmidSDCCAG8 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SDCCAG8
      QuantiFast Probe-based Assays in human, mouse, rat SDCCAG8

    Additional mRNA sequence: 

    AF039690.1 AF161348.1 AF250731.1 AK023586.1 AK130373.1 AK297105.1 AK299212.1 AK299249.1 
    BC015867.1 BC032454.1 BC041942.1 BC045832.1 BX537630.1 

    20 DOTS entries:

    DT.456229  DT.427466  DT.121361576  DT.86856078  DT.100797465  DT.121361538  DT.97836199  DT.206327 
    DT.99957955  DT.95365390  DT.100797469  DT.101968948  DT.100797464  DT.121361806  DT.75113266  DT.86843824 
    DT.97769207  DT.97826987  DT.121361508  DT.92438232 

    Selected AceView cDNA sequences (see all 140):

    AW160598 NM_006642 BU949841 BM978666 BI492219 AI140814 AK023586 BQ018376 
    AW193663 AI948670 AF250731 BG200468 BU616964 AW057648 BC041942 CB132804 
    CD518722 AI478382 BC045832 CR618020 BU736029 CA444895 AI288955 AW102824 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SDCCAG8 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^
    SP1:                                -     -                                                           -                       -                       -         
    SP2:                                -     -                                                           -                       -                                 
    SP3:                                                                                      -           -                                                         
    SP4:                                                                                      -           -                                                         
    SP5:                                -                                                                                                                           

    ExUns: 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                                  -               
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for SDCCAG8

    (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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    SDCCAG8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACAATCTG
    SDCCAG8 Expression
    About this image


    SDCCAG8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SDCCAG8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SDCCAG8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591530

    UniProtKB/Swiss-Prot: SDCG8_HUMAN, Q86SQ7
    Tissue specificity: Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal
    cancer tumors

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDCCAG8

    (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 animals.

    Orthologs for SDCCAG8 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sdccag81 , 5 serologically defined colon cancer antigen 81, 5 81.39(n)1
    77.84(a)1
      1 (82.66 cM)5
    768161  NM_029756.31  NP_084032.11 
     1768146605 
    chicken
    (Gallus gallus)
    Aves SDCCAG81 serologically defined colon cancer antigen 8 69.66(n)
    60.2(a)
      421498  XM_004935436.1  XP_004935493.1 
    lizard
    (Anolis carolinensis)
    Reptilia SDCCAG86
    serologically defined colon cancer antigen 8
    53(a)
    1 ↔ 1
    GL343285.1(350263-477467)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sdccag81 serologically defined colon cancer antigen 8 60.4(n)
    48.12(a)
      100145006  XM_002935824.2  XP_002935870.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sdccag81 serologically defined colon cancer antigen 8 56.61(n)
    46.41(a)
      556980  XM_005156579.1  XP_005156636.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG312911 CG31291 41.53(n)
    27.73(a)
      41932  NM_169683.1  NP_732086.1 


    ENSEMBL Gene Tree for SDCCAG8 (if available)
    TreeFam Gene Tree for SDCCAG8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SDCCAG8 gene
    2 SIMAP similar genes for SDCCAG8 using alignment to 4 protein entries:     SDCG8_HUMAN (see all proteins):
    KATNBL1    C6orf149

    Find genes that share paralogs with SDCCAG8           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 SDCCAG8 (see all 4033)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2676070311,2
    Cpathogenic1250267025(+) AGGAGA/TAGCTA 2 K * stg10--------
    rs715373311,2
    C,F--213798084(+) GAGCAC/TCCGGG 1 -- us2k15Minor allele frequency- T:0.33NA CSA 127
    rs1122138581,2
    C--213837693(+) GGGGGG/AGAGAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2021491871,2
    C--213837693(+) GGGGG-/AGAGAG 1 -- int10--------
    rs348856101,2
    C--213841279(+) TTTTT-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs357026821,2
    C--213845576(+) GGGGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs114208781,2
    C--213854305(+) TCAAGA/-AAAAA 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs1497501021,2
    C--213880951(+) AAATG-/AAAAAT 1 -- int10--------
    rs344050781,2
    C--213891817(+) AATAC-/A/AAA 
            
    AAAAA
    2 -- int1 cds11CSA 2
    rs2012316521,2
    --213940593(+) TAGAT-/GCCGTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SDCCAG8 (243419307 - 243663394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SDCCAG8 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726496CNV Deletion23290073
    esv2674670CNV Deletion23128226
    esv2677365CNV Deletion23128226
    esv2726485CNV Deletion23290073
    esv991124CNV Deletion20482838
    esv2726474CNV Deletion23290073
    esv1353364CNV Deletion17803354
    nsv820437CNV Deletion20802225
    esv2675259CNV Deletion23128226
    esv2726507CNV Deletion23290073

    Human Gene Mutation Database (HGMD): SDCCAG8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SDCCAG8
    DNA2.0 Custom Variant and Variant Library Synthesis for SDCCAG8

    (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: 613524   
    OMIM disorders: 613615  
    UniProtKB/Swiss-Prot: SDCG8_HUMAN, Q86SQ7
  • Senior-Loken syndrome 7 (SLSN7) [MIM:613615]: A renal-retinal disorder characterized by progressive
    wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease,
    and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for SDCCAG8:    
    About MalaCards
    senior-loken syndrome 7    senior-loken syndrome    sdccag8-related bardet-biedl syndrome    senior-loken syndrome 1
    colon cancer    bardet-biedl syndrome, modifier of

    2 diseases from the University of Copenhagen DISEASES database for SDCCAG8:
    Nephronophthisis     Bardet-Biedl syndrome

    Find genes that share disorders with SDCCAG8           About GenesLikeMe

    Genetic Association Database (GAD): SDCCAG8
    Human Genome Epidemiology (HuGE) Navigator: SDCCAG8 (7 documents)

    Export disorders for SDCCAG8 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 SDCCAG8 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with SDCCAG8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. (PubMed id 20835237)1, 2, 3 Otto E.A.... Hildebrandt F. (Nat. Genet. 2010)
    2. Characterization of human colon cancer antigens recognized by autologous antibodies. (PubMed id 9610721)1, 2, 3 Scanlan M.J.... Old L.J. (Int. J. Cancer 1998)
    3. Identification and characterization of the novel centrosome- associated protein CCCAP. (PubMed id 12559564)1, 2, 9 Kenedy A.A.... Dang C.V. (Gene 2003)
    4. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)
    7. Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. (PubMed id 20421936)1, 4 Scherag A....Meyre D. (PLoS Genet. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. (PubMed id 19626040)1, 4 McCauley J.L....Haines J.L. (Genes Immun. 2009)
    10. 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)

    (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: 10806 HGNC: 10671 AceView: SDCCAG8 Ensembl:ENSG00000054282 euGenes: HUgn10806
    ECgene: SDCCAG8 H-InvDB: SDCCAG8

    (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 SDCCAG8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SDCCAG8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SDCCAG8 gene:
    Search GeneIP for patents involving SDCCAG8

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



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