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

Summary

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: mouse all
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Genomic context

Location:: 1q43-q44

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (243256041..243500091)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (242667066..242911895)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (243419343..243663393)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Genetic Variants May Play Role in Opioid Dependence.
Title: Genetic Variants May Play Role in Opioid Dependence.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new schizophrenia loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

SHGC-149315 (e-PCR)
- UniSTS:176927

D8S2279 (e-PCR)
- UniSTS:473907

AL009623 (e-PCR)
- UniSTS:31541

MARC_17674-17675:1030546305:1 (e-PCR)
- UniSTS:268373

AL009684 (e-PCR)
- UniSTS:22357

L18426 (e-PCR)
- UniSTS:34648

G27428 (e-PCR)
- UniSTS:63839

RH92199 (e-PCR)
- UniSTS:89985

D11S3538 (e-PCR)
- UniSTS:152777

SHGC-148050 (e-PCR)
- UniSTS:181992

RH12417 (e-PCR)
- UniSTS:18932

D1S1904E (e-PCR)
- UniSTS:43005

Homology

Homologs of the SDCCAG8 gene: The SDCCAG8 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and frog.
Orthologs from Annotation Pipeline: 458 organisms have orthologs with human gene SDCCAG8
Orthologs

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

NG_027811.1 RefSeqGene

Range

5037..249087

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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, Q9P0F1

Related

ENSP00000355499.3, ENST00000366541.8

Conserved Domains (1) summary

pfam15964
Location:6 → 706

CCCAP; Centrosomal colon cancer autoantigen protein family