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

Gene ID: 10806, updated on 2-Nov-2024

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; AllianceGenome:HGNC:10671
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:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (243256041..243500091)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (242667066..242911895)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (243419343..243663393)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904568 Neighboring gene long intergenic non-protein coding RNA 1347 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:243277095-243277846 Neighboring gene NANOG hESC enhancer GRCh37_chr1:243285114-243285617 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:243337129-243337774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243338714-243339414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243339415-243340113 Neighboring gene centrosomal protein 170 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243448123-243448859 Neighboring gene Sharpr-MPRA regulatory region 8354 Neighboring gene FCF1 pseudogene 7 Neighboring gene uncharacterized LOC124904569 Neighboring gene microRNA 4677 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:243639115-243639288 Neighboring gene Sharpr-MPRA regulatory region 5448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:243645455-243646070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:243647393-243647951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243653141-243653664 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243653665-243654188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243659455-243660106 Neighboring gene AKT serine/threonine kinase 3 Neighboring gene Sharpr-MPRA regulatory region 1428 Neighboring gene fatty acid binding protein 7 pseudogene 1 Neighboring gene VISTA enhancer hs545 Neighboring gene NANOG hESC enhancer GRCh37_chr1:243903627-243904128 Neighboring gene AKT3 intronic transcript 1

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 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. 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
  4. 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
  5. Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival. He Y, et al. Cancer Sci, 2021 Oct. PMID 34375487, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis.
    Title: The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis.
  2. Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival.
    Title: Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival.
  3. 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.
  4. 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.
  5. Genetic Variants May Play Role in Opioid Dependence.
    Title: Genetic Variants May Play Role in Opioid Dependence.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Senior-Loken syndrome 7
MedGen: C3150877 OMIM: 613615 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Genome-wide association study of selenium concentrations.
EBI GWAS Catalog
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
EBI GWAS 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.
EBI GWAS 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 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
  
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
  
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
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
    UniProtKB/TrEMBL
    A0A0G2JR20
    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
    UniProtKB/TrEMBL
    A0A0G2JR20
    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
    UniProtKB/TrEMBL
    B4DRD9
    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
    UniProtKB/TrEMBL
    A0A0G2JR50
    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
    UniProtKB/TrEMBL
    A0A0G2JR20
    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
    O60527, Q3ZCR6, Q86SQ7, Q8N5F2, Q9P0F1
    UniProtKB/TrEMBL
    B4DRD9
    Related
    ENSP00000355499.3, ENST00000366541.8
    Conserved Domains (1) summary
    pfam15964
    Location:6 → 706
    CCCAP; Centrosomal colon cancer autoantigen protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    243256041..243500091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187519.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    268149..512199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    242667066..242911895
    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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