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Aliases for SDCCAG8 Gene

Aliases for SDCCAG8 Gene

  • Serologically Defined Colon Cancer Antigen 8 2 3 5
  • Centrosomal Colon Cancer Autoantigen Protein 3 4
  • Antigen NY-CO-8 3 4
  • NPHP10 3 4
  • HCCCAP 3 4
  • CCCAP 3 4
  • CCCAP SLSN7 3
  • HSPC085 3
  • NY-CO-8 3
  • BBS16 3
  • SLSN7 3

External Ids for SDCCAG8 Gene

Previous GeneCards Identifiers for SDCCAG8 Gene

  • GC01P241306
  • GC01P238665
  • GC01P239621
  • GC01P240366
  • GC01P239745
  • GC01P241485
  • GC01P243419
  • GC01P213799

Summaries for SDCCAG8 Gene

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 bardet-biedl syndrome 16. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot for SDCCAG8 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDCCAG8 Gene

Genomics for SDCCAG8 Gene

Regulatory Elements for SDCCAG8 Gene

Promoters for SDCCAG8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SDCCAG8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SDCCAG8 Gene

Chromosome:
1
Start:
243,255,419 bp from pter
End:
243,500,092 bp from pter
Size:
244,674 bases
Orientation:
Plus strand

Genomic View for SDCCAG8 Gene

Genes around SDCCAG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDCCAG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDCCAG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDCCAG8 Gene

Proteins for SDCCAG8 Gene

  • Protein details for SDCCAG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SQ7-SDCG8_HUMAN
    Recommended name:
    Serologically defined colon cancer antigen 8
    Protein Accession:
    Q86SQ7
    Secondary Accessions:
    • O60527
    • Q3ZCR6
    • Q8N5F2
    • Q9P0F1

    Protein attributes for SDCCAG8 Gene

    Size:
    713 amino acids
    Molecular mass:
    82682 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with OFD1; the interaction is direct. Interacts with FAM161A.

    Alternative splice isoforms for SDCCAG8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDCCAG8 Gene

Proteomics data for SDCCAG8 Gene at MOPED

Post-translational modifications for SDCCAG8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SDCCAG8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SDCCAG8

No data available for DME Specific Peptides for SDCCAG8 Gene

Domains & Families for SDCCAG8 Gene

Gene Families for SDCCAG8 Gene

Protein Domains for SDCCAG8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SDCCAG8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SDCCAG8: view

No data available for UniProtKB/Swiss-Prot for SDCCAG8 Gene

Function for SDCCAG8 Gene

Molecular function for SDCCAG8 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May play a role in ciliogenesis.
genes like me logo Genes that share phenotypes with SDCCAG8: view

Human Phenotype Ontology for SDCCAG8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDCCAG8 Gene

MGI Knock Outs for SDCCAG8:

Animal Model Products

CRISPR Products

miRNA for SDCCAG8 Gene

miRTarBase miRNAs that target SDCCAG8

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SDCCAG8 Gene

Localization for SDCCAG8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDCCAG8 Gene

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.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SDCCAG8 Gene COMPARTMENTS Subcellular localization image for SDCCAG8 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for SDCCAG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IDA 20835237
GO:0034451 centriolar satellite IEA --
genes like me logo Genes that share ontologies with SDCCAG8: view

Pathways & Interactions for SDCCAG8 Gene

genes like me logo Genes that share pathways with SDCCAG8: view

Gene Ontology (GO) - Biological Process for SDCCAG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with SDCCAG8: view

No data available for SIGNOR curated interactions for SDCCAG8 Gene

Drugs & Compounds for SDCCAG8 Gene

No Compound Related Data Available

Transcripts for SDCCAG8 Gene

Unigene Clusters for SDCCAG8 Gene

Serologically defined colon cancer antigen 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SDCCAG8 Gene

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: -
SP6: - - - - - - - - -
SP7: - - - - - - - - - - -
SP8:
SP9:
SP10: -
SP11: -

ExUns: 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SDCCAG8 Gene

GeneLoc Exon Structure for
SDCCAG8
ECgene alternative splicing isoforms for
SDCCAG8

Expression for SDCCAG8 Gene

mRNA expression in normal human tissues for SDCCAG8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SDCCAG8 Gene

This gene is overexpressed in Pancreas (56.3) and Blymphocyte (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SDCCAG8 Gene



SOURCE GeneReport for Unigene cluster for SDCCAG8 Gene Hs.591530

mRNA Expression by UniProt/SwissProt for SDCCAG8 Gene

Q86SQ7-SDCG8_HUMAN
Tissue specificity: Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.
genes like me logo Genes that share expression patterns with SDCCAG8: view

Protein tissue co-expression partners for SDCCAG8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SDCCAG8 Gene

Orthologs for SDCCAG8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SDCCAG8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SDCCAG8 35
  • 88.51 (n)
  • 82.98 (a)
SDCCAG8 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SDCCAG8 35
  • 87.1 (n)
  • 81.49 (a)
SDCCAG8 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdccag8 35
  • 81.39 (n)
  • 77.84 (a)
Sdccag8 16
Sdccag8 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SDCCAG8 35
  • 99.43 (n)
  • 99.24 (a)
SDCCAG8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdccag8 35
  • 81.23 (n)
  • 76.83 (a)
oppossum
(Monodelphis domestica)
Mammalia SDCCAG8 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SDCCAG8 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDCCAG8 35
  • 69.66 (n)
  • 60.2 (a)
SDCCAG8 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SDCCAG8 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdccag8 35
  • 60.4 (n)
  • 48.12 (a)
zebrafish
(Danio rerio)
Actinopterygii sdccag8 35
  • 56.61 (n)
  • 46.41 (a)
sdccag8 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31291 35
  • 41.53 (n)
  • 27.73 (a)
CG31291 36
  • 11 (a)
OneToOne
Species with no ortholog for SDCCAG8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SDCCAG8 Gene

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

Paralogs for SDCCAG8 Gene

(2) SIMAP similar genes for SDCCAG8 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SDCCAG8: view

No data available for Paralogs for SDCCAG8 Gene

Variants for SDCCAG8 Gene

Sequence variations from dbSNP and Humsavar for SDCCAG8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2275155 - 243,330,605(-) GCAAG(A/T)TCTTT nc-transcript-variant, reference, missense
rs946823 -- 243,465,862(+) TCCAG(C/T)GTATT intron-variant
rs967733 -- 243,319,878(-) CCCTA(G/T)TCAGA intron-variant
rs967737 -- 243,359,299(-) GTGCA(C/G)TGCAC intron-variant
rs1060643 -- 243,266,674(+) GAGTA(C/G)GCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SDCCAG8 Gene

Variant ID Type Subtype PubMed ID
esv32774 CNV Gain 17666407
nsv517939 CNV Gain 19592680
esv2726474 CNV Deletion 23290073
esv2675259 CNV Deletion 23128226
esv2674670 CNV Deletion 23128226
nsv506989 CNV Insertion 20534489
esv2726485 CNV Deletion 23290073
esv2726496 CNV Deletion 23290073
nsv159918 CNV Loss 16902084
esv991124 CNV Deletion 20482838
esv1353364 CNV Deletion 17803354
nsv833070 CNV Gain 17160897
esv2726507 CNV Deletion 23290073
nsv873389 CNV Gain 21882294
nsv873390 CNV Gain 21882294
esv25013 CNV Loss 19812545
nsv820437 CNV Deletion 20802225
nsv512760 CNV Insertion 21212237
esv2677365 CNV Deletion 23128226

Variation tolerance for SDCCAG8 Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.12; 84.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDCCAG8 Gene

HapMap Linkage Disequilibrium report
SDCCAG8
Human Gene Mutation Database (HGMD)
SDCCAG8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDCCAG8 Gene

Disorders for SDCCAG8 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SDCCAG8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
senior-loken syndrome 7
  • slsn7
bardet-biedl syndrome 16
  • bbs16
senior-loken syndrome-1
  • senior-loken syndrome
sdccag8-related bardet-biedl syndrome
bardet-biedl syndrome
  • laurence-moon syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SDCG8_HUMAN
  • Bardet-Biedl syndrome 16 (BBS16) [MIM:615993]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:20835237, ECO:0000269 PubMed:22626039}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:20835237}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SDCCAG8

Genetic Association Database (GAD)
SDCCAG8
Human Genome Epidemiology (HuGE) Navigator
SDCCAG8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SDCCAG8
genes like me logo Genes that share disorders with SDCCAG8: view

No data available for Genatlas for SDCCAG8 Gene

Publications for SDCCAG8 Gene

  1. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. (PMID: 20835237) Otto E.A. … Hildebrandt F. (Nat. Genet. 2010) 2 3 4 67
  2. Identification and characterization of the novel centrosome- associated protein CCCAP. (PMID: 12559564) Kenedy A.A. … Dang C.V. (Gene 2003) 3 23
  3. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan M.J. … Old L.J. (Int. J. Cancer 1998) 2 3
  4. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for SDCCAG8 Gene

Sources for SDCCAG8 Gene

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