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Gene

SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

Summary

Cytogenetic location
1q43-q44
Coordinates
Chromosome 1: 243,256,041–243,500,091 (GRCh38)
Exons
18 exons across 244.1 kb
Protein
713 amino acids
Inheritance
Autosomal recessive
Also known as
NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16
MANE Select transcript
ENST00000366541.8NM_006642.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Bardet-Biedl and Alström Syndromes

    • Bardet-Biedl syndromeAutosomal recessive

      A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.

  • Nephronophthisis and Senior-Løken Syndrome

    • Senior-Løken SyndromeAutosomal recessive

      A form of nephronophthisis combined with retinal degeneration that can cause early vision loss.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing prompts referral for an eye examination alongside kidney monitoring.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SDCCAG8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where SDCCAG8 sits. SDCCAG8 and 2 genes near it on chromosome 1, from 242,878,066 to 243,878,065.Chromosome 11q43-q44p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44243 Mb243.2 Mb243.4 Mb243.6 Mb243.8 MbCEP170: 243,123,977–243,255,793, reverse strandCEP170SDCCAG8: 243,256,041–243,500,091, forward strandSDCCAG8AKT3: 243,488,233–243,851,079, reverse strandAKT3Diagram of SDCCAG8: 18 exons on the forward strand of chromosome 1Exon 1: 7 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 5 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 1: 243,256,041–243,256,240, 200 basesExon 2: 243,270,105–243,270,257, 153 basesExon 3: 243,270,978–243,271,063, 86 basesExon 4: 243,274,543–243,274,656, 114 basesExon 5: 243,286,272–243,286,397, 126 basesExon 6: 243,293,091–243,293,219, 129 basesExon 7: 243,304,713–243,304,777, 65 basesExon 8: 243,307,989–243,308,177, 189 basesExon 9: 243,316,755–243,316,893, 139 basesExon 10: 243,330,540–243,330,692, 153 basesExon 11: 243,341,039–243,341,173, 135 basesExon 12: 243,344,215–243,344,331, 117 basesExon 13: 243,378,721–243,378,863, 143 basesExon 14: 243,415,702–243,415,829, 128 basesExon 15: 243,417,968–243,418,076, 109 basesExon 16: 243,426,427–243,426,558, 132 basesExon 17: 243,489,014–243,489,140, 127 basesExon 18: 243,499,756–243,500,091, 336 bases1246810121416185′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.6 kb of the gene's 244.1 kb; 2,142 of those bases code for the protein.

How a genome test reads SDCCAG8

75

positions in SDCCAG8 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 244.1 kb of SDCCAG8, introns included, not only the 2.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SDCCAG8 gene: SHH signaling and ciliogenesis regulator SDCCAG8. Retrieved 17 October 2026, from https://dantelabs.com/genes/sdccag8

Vancouver

Dante Labs. SDCCAG8 gene: SHH signaling and ciliogenesis regulator SDCCAG8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sdccag8

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