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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 Bardet-Biedl Syndrome 16 and Senior-Loken Syndrome 7. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SDCCAG8 Gene

Promoters and enhancers for SDCCAG8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I243251 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 578.6 -1.0 -983 6.7 CLOCK FEZF1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 SDCCAG8 CEP170 AKT3 ENSG00000236031 PLD5 ENSG00000232085
GH01I243262 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.3 +11.3 11328 8.7 ATF1 ARNT TCF12 ZNF766 ATF7 FOS NCOA1 REST ZNF592 GMEB1 FCF1P7 SDCCAG8 CEP170
GH01I243283 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +31.2 31178 5.6 JUN MAX BATF ZNF121 POLR2A ATF7 FOSL2 FOS ETV6 IKZF2 SDCCAG8 CEP170 FCF1P7 PIR31594
GH01I244046 Promoter/Enhancer 3 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +794.3 794276 7.4 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 ZBTB18 DESI2 ENSG00000253326 COX20 AKT3 HNRNPU LINC01347 LOC101928068 ENSG00000236031 ADSS
GH01I243101 Promoter/Enhancer 1.4 Ensembl ENCODE 20 -153.8 -153795 1.2 HDGF ATF1 ARNT SIN3A NCOA2 POLR2B CBX5 E2F8 ZNF143 ATF7 LINC01347 SDCCAG8 CEP170 RNU6-747P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SDCCAG8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SDCCAG8 gene promoter:

Genomic Locations for SDCCAG8 Gene

Genomic Locations for SDCCAG8 Gene
chr1:243,255,419-243,500,092
(GRCh38/hg38)
Size:
244,674 bases
Orientation:
Plus strand
chr1:243,419,307-243,663,394
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for SDCCAG8 Gene

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SDCCAG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA,IEA 21399614
GO:0005814 centriole IEA,IDA 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:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0030010 establishment of cell polarity IEA,ISS --
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
Regions:
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

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 33 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia SDCCAG8 33 34
  • 88.51 (n)
dog
(Canis familiaris)
Mammalia SDCCAG8 33 34
  • 87.1 (n)
mouse
(Mus musculus)
Mammalia Sdccag8 33 16 34
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Sdccag8 33
  • 81.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SDCCAG8 34
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDCCAG8 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDCCAG8 33 34
  • 69.66 (n)
lizard
(Anolis carolinensis)
Reptilia SDCCAG8 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdccag8 33
  • 60.4 (n)
zebrafish
(Danio rerio)
Actinopterygii sdccag8 33 34
  • 56.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31291 33 34
  • 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 Variation AA Info Type
rs1057515424 uncertain-significance, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,499,934(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515459 uncertain-significance, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,500,072(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515483 uncertain-significance, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,341,173(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1057515485 uncertain-significance, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,499,998(+) TGTTT/TGTTTGTTT 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515530 uncertain-significance, Bardet-Biedl syndrome, Renal dysplasia and retinal aplasia 243,426,546(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(8) MalaCards diseases for SDCCAG8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 16
  • bbs16
senior-loken syndrome 7
  • slsn7
senior-loken syndrome 1
  • slsn1
bardet-biedl syndrome
  • biedl-bardet syndrome
ciliopathy
  • ciliopathies
- 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.

Additional Disease Information for SDCCAG8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EA … Hildebrandt F (Nature genetics 2010) 2 3 4 58
  2. Identification and characterization of the novel centrosome-associated protein CCCAP. (PMID: 12559564) Kenedy AA … Dang CV (Gene 2003) 3 4 22 58
  3. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan MJ … Old LJ (International journal of cancer 1998) 2 3 4 58
  4. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (PMID: 22626039) Billingsley G … Héon E (Ophthalmic genetics 2012) 3 4 58
  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 SA … Rivolta C (Human molecular genetics 2012) 3 4 58

Products for SDCCAG8 Gene

Sources for SDCCAG8 Gene

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