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SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 [ Homo sapiens (human) ]

Gene ID: 10806, updated on 8-Jul-2021

Summary

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Official Symbol
SDCCAG8provided by HGNC
Official Full Name
SHH signaling and ciliogenesis regulator SDCCAG8provided 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
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Genomic context

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See SDCCAG8 in Genome Data Viewer
Location:
1q43-q44
Exon count:
27
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (243255418..243503683)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (243419343..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. A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome. Bahmanpour Z, et al. Int Ophthalmol, 2021 Feb. PMID 32926352
  2. Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function. Flynn M, et al. Hum Mol Genet, 2020 Feb 1. PMID 31868218
  3. 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
  4. 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
  5. Sox11 promotes head and neck cancer progression via the regulation of SDCCAG8. Huang J, et al. J Exp Clin Cancer Res, 2019 Mar 29. PMID 30922366, Free PMC Article

See all (53) citations in PubMed

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
    Title: A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
  2. Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function.
    Title: Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function.
  3. Genetic Variants May Play Role in Opioid Dependence.
    Title: Genetic Variants May Play Role in Opioid Dependence.
  4. Results suggest that SDCCAG8 promote the proliferation, migration and invasion of head and neck squamous cell carcinoma (HNSCC) cells. Sdccag8 is a downstream target gene of SOX11 in HNSCC cells.
    Title: Sox11 promotes head and neck cancer progression via the regulation of SDCCAG8.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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 Overview
Compare labs
Bardet-Biedl syndrome 16
MedGen: C3889474 OMIM: 615993 GeneReviews: Bardet-Biedl Syndrome Overview
Compare labs
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association study identifies five new schizophrenia loci.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
GeneReviews: Not available
Senior-Loken syndrome 7
MedGen: C3150877 OMIM: 613615 GeneReviews: Not available
Compare labs
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.
GeneReviews: Not available

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 PubChem

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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
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in centrosome cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in establishment of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in microtubule organizing center organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tube formation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in tube formation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriolar satellite IEA
Inferred from Electronic Annotation
more info
  
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in 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
    5037..249087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350246.2 → 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_001350247.2 → 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_001350248.2 → 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_001350249.2 → 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_001350251.2 → 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 Updated Annotation Release 109.20210514

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
    268149..512199
    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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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