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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 2 3 4
  • Bardet-Biedl Syndrome 16 2 3
  • Nephrocystin 10 2 3
  • Antigen NY-CO-8 3 4
  • NPHP10 3 4
  • HCCCAP 3 4
  • CCCAP 3 4
  • Senior-Loken Syndrome 7 2
  • 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 Regulation of PLK1 Activity at G2/M Transition 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDCCAG8 Gene

Genomics for SDCCAG8 Gene

Regulatory Elements for SDCCAG8 Gene

Enhancers for SDCCAG8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G243262 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.3 +11.3 11328 8.7 PKNOX1 ATF1 ARNT FEZF1 ZNF2 TCF12 ZNF121 ZNF766 GATA2 FOS SDCCAG8 CEP170 FCF1P7
GH01G243283 1.8 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +31.2 31179 5.6 ATF1 RB1 CHAMP1 YY1 ZNF121 EGR1 GATA2 FOS ETV6 IKZF2 SDCCAG8 CEP170 FCF1P7 PIR31594
GH01G243251 1.4 ENCODE dbSUPER 28.6 -1.0 -984 6.7 CREB3L1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D ZNF610 SDCCAG8 CEP170 ENSG00000232085
GH01G243293 0.9 ENCODE dbSUPER 39.5 +39.4 39449 2.2 CBX3 ZNF740 SIN3A YY1 JUND HNF4A ZBTB33 FOS PRDM1 TRIM28 SDCCAG8 CEP170 PIR31594 FCF1P7
GH01G243246 1.1 Ensembl ENCODE dbSUPER 25.9 -7.8 -7819 1.6 ZBTB21 ATF2 FOXA1 JUND ZSCAN5C BCL6B ZNF629 HNF4A ZBTB33 PRDM1 SDCCAG8 CEP170 ENSG00000232085
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDCCAG8 on UCSC Golden Path with GeneCards custom track

Promoters for SDCCAG8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022786 -719 5001 CREB3L1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D ZNF610

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

Post-translational modifications for SDCCAG8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.

Gene Ontology (GO) - Molecular Function for SDCCAG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20835237
genes like me logo Genes that share ontologies with SDCCAG8: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,IDA 21399614
GO:0005814 centriole IDA,IEA 20835237
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton 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:0001764 neuron migration IEA --
GO:0007098 centrosome cycle IEA --
GO:0030010 establishment of cell polarity ISS,IEA --
GO:0031023 microtubule organizing center organization IEA --
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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SDCCAG8 Gene



Protein tissue co-expression partners for SDCCAG8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SDCCAG8 Gene:

SDCCAG8

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.

Evidence on tissue expression from TISSUES for SDCCAG8 Gene

  • Nervous system(4.5)
  • Lung(4.3)
  • Blood(4.1)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SDCCAG8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SDCCAG8: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SDCCAG8 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia SDCCAG8 34 35
  • 88.51 (n)
dog
(Canis familiaris)
Mammalia SDCCAG8 34 35
  • 87.1 (n)
mouse
(Mus musculus)
Mammalia Sdccag8 34 16 35
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Sdccag8 34
  • 81.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SDCCAG8 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDCCAG8 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDCCAG8 34 35
  • 69.66 (n)
lizard
(Anolis carolinensis)
Reptilia SDCCAG8 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdccag8 34
  • 60.4 (n)
zebrafish
(Danio rerio)
Actinopterygii sdccag8 34 35
  • 56.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31291 34 35
  • 41.53 (n)
Species where no ortholog for SDCCAG8 was found in the sources mined by GeneCards:
  • 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
rs267607031 Pathogenic 243,304,716(+) AGGAG(A/T)AGCTA intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs387906218 Pathogenic 243,341,156(+) TCGGG(-/G)AAATG nc-transcript-variant, reference, frameshift-variant
rs397515335 Pathogenic 243,344,278(+) AAAAG(-/G)AGCAC nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs397515336 Pathogenic 243,426,519(+) ACAGT(-/GTGT)CCAGC nc-transcript-variant, reference, frameshift-variant
rs397515337 Pathogenic 243,305,133(+) AACCC(C/T)GTTTC intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv601n100 CNV gain 25217958
esv1353364 CNV deletion 17803354
esv25013 CNV loss 19812545
esv2674670 CNV deletion 23128226
esv2675259 CNV deletion 23128226
esv2677365 CNV deletion 23128226
esv2726474 CNV deletion 23290073
esv2726485 CNV deletion 23290073
esv2726496 CNV deletion 23290073
esv2726507 CNV deletion 23290073
esv32774 CNV gain 17666407
esv3432619 CNV insertion 20981092
esv3549711 CNV deletion 23714750
esv3549722 CNV deletion 23714750
esv3589391 CNV loss 21293372
esv3589392 CNV loss 21293372
esv991124 CNV deletion 20482838
nsv1001488 CNV loss 25217958
nsv1010479 CNV loss 25217958
nsv1013039 CNV gain 25217958
nsv1137860 CNV deletion 24896259
nsv159918 CNV deletion 16902084
nsv472026 CNV novel sequence insertion 20440878
nsv506989 OTHER sequence alteration 20534489
nsv512760 CNV insertion 21212237
nsv517939 CNV gain 19592680
nsv549479 CNV loss 21841781
nsv820437 CNV deletion 20802225
nsv833070 CNV gain 17160897
nsv956685 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
SDCCAG8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • biedl-bardet 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 64
  2. Identification and characterization of the novel centrosome- associated protein CCCAP. (PMID: 12559564) Kenedy A.A. … Dang C.V. (Gene 2003) 3 4 22 64
  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 64
  4. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (PMID: 22626039) Billingsley G. … HAcon E. (Ophthalmic Genet. 2012) 3 4 64
  5. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. (PMID: 22940612) Di Gioia S.A. … Rivolta C. (Hum. Mol. Genet. 2012) 3 4 64

Products for SDCCAG8 Gene

Sources for SDCCAG8 Gene

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