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SDCCAG8 serologically defined colon cancer antigen 8 [ Homo sapiens (human) ]

Gene ID: 10806, updated on 17-Jun-2019

Summary

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Official Symbol
SDCCAG8provided by HGNC
Official Full Name
serologically defined colon cancer antigen 8provided by HGNC
Primary source
HGNC:HGNC:10671
See related
Ensembl:ENSG00000054282 MIM:613524
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BBS16; CCCAP; SLSN7; NPHP10; hCCCAP; HSPC085; NY-CO-8; CCCAP SLSN7
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 5.5), lung (RPKM 3.0) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See SDCCAG8 in Genome Data Viewer
Location:
1q43-q44
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (243255418..243503683)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (243419307..243663393)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nascent polypeptide-associated complex subunit alpha, muscle-specific form-like Neighboring gene long intergenic non-protein coding RNA 1347 Neighboring gene RNA, U6 small nuclear 747, pseudogene Neighboring gene centrosomal protein 170 Neighboring gene FCF1 pseudogene 7 Neighboring gene microRNA 4677 Neighboring gene uncharacterized LOC105373255 Neighboring gene AKT serine/threonine kinase 3 Neighboring gene fatty acid binding protein 7 pseudogene 1 Neighboring gene VISTA enhancer hs545

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Billingsley G, et al. Ophthalmic Genet, 2012 Sep. PMID 22626039
  2. SDCCAG8 obesity alleles and reduced weight loss after a lifestyle intervention in overweight children and adolescents. Scherag A, et al. Obesity (Silver Spring), 2012 Feb. PMID 22095114
  3. Gene-gene interactions in APOL1-associated nephropathy. Divers J, et al. Nephrol Dial Transplant, 2014 Mar. PMID 24157943, Free PMC Article
  4. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Hamshere ML, et al. Mol Psychiatry, 2013 Jun. PMID 22614287, Free PMC Article
  5. Identification and characterization of the novel centrosome-associated protein CCCAP. Kenedy AA, et al. Gene, 2003 Jan 16. PMID 12559564

See all (46) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Variants in NPHS2, SDCCAG8 and near BMP4 appear to interact with APOL1 to modulate the risk for non-diabetic end stage kidney disease in african americans.
    Title: Gene-gene interactions in APOL1-associated nephropathy.
  2. significant associations in schizophrenia to SDCAAG8 and extensive replication of associations reported by the Schizophrenia.
    Title: Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC.
  3. Our results and prior literature suggest that SDCCAG8 could play an important role in presumed Bardet-Biedl syndrome (BBS) patients affected with severe kidney disease and absent polydactyly.
    Title: Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
  4. Intronic variants of SDCCAG8, which are associated with early onset obesity, are associated with reduced weight loss after a 1-year lifestyle intervention in overweight children and adolescents even after adjusting for age, sex, baseline measurement.
    Title: SDCCAG8 obesity alleles and reduced weight loss after a lifestyle intervention in overweight children and adolescents.
  5. Mutation of SDCCAG8 is associated with retinal-renal ciliopathy.
    Title: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
  6. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: 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.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bardet-Biedl syndrome
MedGen: C0752166 GeneReviews: Bardet-Biedl Syndrome
Compare labs
Bardet-Biedl syndrome 16
MedGen: C3889474 OMIM: 615993 GeneReviews: Bardet-Biedl Syndrome
Compare labs
Senior-Loken syndrome 7
MedGen: C3150877 OMIM: 613615 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA is identified to have a physical interaction with serologically defined colon cancer antigen 8 (SDCCAG8) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
  
centrosome cycle IEA
Inferred from Electronic Annotation
more info
  
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
  
establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
establishment of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
  
microtubule organizing center organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
  
regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
tube formation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
tube formation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
cell-cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
centriolar satellite IEA
Inferred from Electronic Annotation
more info
  
centriole IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
centriole IDA
Inferred from Direct Assay
more info
 PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
  
cytosol TAS
Traceable Author Statement
more info
  
photoreceptor cell cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serologically defined colon cancer antigen 8
Names
Bardet-Biedl syndrome 16
antigen NY-CO-8
centrosomal colon cancer autoantigen protein
nephrocystin 10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027811.1 RefSeqGene

    Range
    5001..249088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350246.1 → NP_001337175.1  serologically defined colon cancer antigen 8 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092806, AC096539, AF250731, AW900472, BQ018376, CB132804, DC326670
    Conserved Domains (1) summary
    pfam15964
    Location:1 → 405
    CCCAP; Centrosomal colon cancer autoantigen protein family

  2. NM_001350247.1 → NP_001337176.1  serologically defined colon cancer antigen 8 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092806, AC096539, AF250731, AW900472, BQ018376, CB132804, DC326670
    Conserved Domains (1) summary
    pfam15964
    Location:1 → 405
    CCCAP; Centrosomal colon cancer autoantigen protein family

  3. NM_001350248.1 → NP_001337177.1  serologically defined colon cancer antigen 8 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092806, AC096539, AF250731, BQ018376, BX457273, DC326670
    Conserved Domains (1) summary
    pfam15964
    Location:6 → 738
    CCCAP; Centrosomal colon cancer autoantigen protein family

  4. NM_001350249.1 → NP_001337178.1  serologically defined colon cancer antigen 8 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC096539, AF250731, BQ018376, DB109569, DC326670
    Conserved Domains (1) summary
    pfam15964
    Location:1 → 608
    CCCAP; Centrosomal colon cancer autoantigen protein family

  5. NM_001350251.1 → NP_001337180.1  serologically defined colon cancer antigen 8 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092806, AC096539, AF250731, AW900472, BQ018376, BX457273, DC326670
    Conserved Domains (1) summary
    pfam15964
    Location:1 → 405
    CCCAP; Centrosomal colon cancer autoantigen protein family

  6. NM_006642.5 → NP_006633.1  serologically defined colon cancer antigen 8 isoform 1

    See identical proteins and their annotated locations for NP_006633.1

    Status: REVIEWED

    Source sequence(s)
    AC096539, AF250731, BQ018376, DC326670
    Consensus CDS
    CCDS31075.1
    UniProtKB/Swiss-Prot
    Q86SQ7
    Related
    ENSP00000355499.3, ENST00000366541.8
    Conserved Domains (1) summary
    pfam15964
    Location:6 → 706
    CCCAP; Centrosomal colon cancer autoantigen protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    243255418..243503683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544026.3 → XP_011542328.1  serologically defined colon cancer antigen 8 isoform X3

    See identical proteins and their annotated locations for XP_011542328.1

    Conserved Domains (1) summary
    pfam15964
    Location:31 → 669
    CCCAP; Centrosomal colon cancer autoantigen protein family

  2. XM_011544028.3 → XP_011542330.1  serologically defined colon cancer antigen 8 isoform X8

    See identical proteins and their annotated locations for XP_011542330.1

    Conserved Domains (1) summary
    pfam15964
    Location:31 → 594
    CCCAP; Centrosomal colon cancer autoantigen protein family

  3. XM_024452548.1 → XP_024308316.1  serologically defined colon cancer antigen 8 isoform X5

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 640
    CCCAP; Centrosomal colon cancer autoantigen protein family

  4. XM_024452547.1 → XP_024308315.1  serologically defined colon cancer antigen 8 isoform X9

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 570
    CCCAP; Centrosomal colon cancer autoantigen protein family

  5. XM_024452540.1 → XP_024308308.1  serologically defined colon cancer antigen 8 isoform X5

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 640
    CCCAP; Centrosomal colon cancer autoantigen protein family

  6. XM_005273018.2 → XP_005273075.1  serologically defined colon cancer antigen 8 isoform X10

    See identical proteins and their annotated locations for XP_005273075.1

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 565
    CCCAP; Centrosomal colon cancer autoantigen protein family

  7. XM_017000105.2 → XP_016855594.1  serologically defined colon cancer antigen 8 isoform X7

  8. XM_005273013.5 → XP_005273070.1  serologically defined colon cancer antigen 8 isoform X4

    See identical proteins and their annotated locations for XP_005273070.1

    Conserved Domains (1) summary
    pfam15964
    Location:6 → 663
    CCCAP; Centrosomal colon cancer autoantigen protein family

  9. XM_005273022.4 → XP_005273079.1  serologically defined colon cancer antigen 8 isoform X12

    See identical proteins and their annotated locations for XP_005273079.1

    Conserved Domains (1) summary
    pfam15964
    Location:4 → 399
    CCCAP; Centrosomal colon cancer autoantigen protein family

  10. XM_017000104.2 → XP_016855593.1  serologically defined colon cancer antigen 8 isoform X6

  11. XM_005273023.5 → XP_005273080.1  serologically defined colon cancer antigen 8 isoform X14

    See identical proteins and their annotated locations for XP_005273080.1

    UniProtKB/Swiss-Prot
    Q86SQ7
    Conserved Domains (1) summary
    pfam15964
    Location:6 → 356
    CCCAP; Centrosomal colon cancer autoantigen protein family

  12. XM_024452549.1 → XP_024308317.1  serologically defined colon cancer antigen 8 isoform X11

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 529
    CCCAP; Centrosomal colon cancer autoantigen protein family

  13. XM_024452537.1 → XP_024308305.1  serologically defined colon cancer antigen 8 isoform X1

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 638
    CCCAP; Centrosomal colon cancer autoantigen protein family

  14. XM_024452539.1 → XP_024308307.1  serologically defined colon cancer antigen 8 isoform X2

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 602
    CCCAP; Centrosomal colon cancer autoantigen protein family

  15. XM_011544030.3 → XP_011542332.1  serologically defined colon cancer antigen 8 isoform X13

    See identical proteins and their annotated locations for XP_011542332.1

    Conserved Domains (1) summary
    pfam15964
    Location:1 → 391
    CCCAP; Centrosomal colon cancer autoantigen protein family

RNA

  1. XR_002958955.1 RNA Sequence

  2. XR_002958965.1 RNA Sequence

  3. XR_002958956.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187519.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    268113..512200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86SQ7.1 GenPept UniProtKB/Swiss-Prot:Q86SQ7

Gene LinkOut

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