SDCCAG8

Chr 1AR

SHH signaling and ciliogenesis regulator SDCCAG8

Also known as: BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP

NCBI Gene: 10806ENSG00000054282UniProt: Q86SQ7

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]

Primary Disease Associations & Inheritance

Bardet-Biedl syndrome 16MIM #615993
AR
Senior-Loken syndrome 7MIM #613615
AR
958
ClinVar variants
87
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— SDCCAG8
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
87 Pathogenic / Likely Pathogenic· 229 VUS of 958 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.78LOEUF
pLI 0.000
Z-score 2.71
OE 0.56 (0.41–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.10Z-score
OE missense 1.01 (0.93–1.11)
367 obs / 361.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.56 (0.41–0.78)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.93–1.11)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.06
0≤1.21.6
LoF obs/exp: 25 / 44.5Missense obs/exp: 367 / 361.7Syn Z: -0.52

ClinVar Variant Classifications

958 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic40
VUS229
Likely Benign152
Benign4
Conflicting3
47
Pathogenic
40
Likely Pathogenic
229
VUS
152
Likely Benign
4
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
10
0
37
0
47
Likely Pathogenic
29
2
9
0
40
VUS
6
185
34
4
229
Likely Benign
2
1
78
71
152
Benign
1
0
3
0
4
Conflicting
—3
Total4818816175475

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SDCCAG8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

SDCCAG8-related Senior-Loken syndrome

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersEye
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Bardet-Biedl syndrome 16

MIM #615993

Molecular basis of disorder known

Autosomal recessive

Senior-Loken syndrome 7

MIM #613615

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
Si S et al.·Genome Med
2024
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J et al.·Am J Ophthalmol
2023
Kidney failure in Bardet-Biedl syndrome.
Meyer JR et al.·Clin Genet
2022
The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis.
Tsutsumi R et al.·J Biol Chem
2022Functional
Senior-Løken syndrome and intracranial hypertension.
Tay SA et al.·Ophthalmic Genet
2020Case report
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
Billingsley G et al.·Ophthalmic Genet
2012Cohort
A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
Bahmanpour Z et al.·Int Ophthalmol
2021
Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.
Song JR et al.·Genes (Basel)
2025Cohort
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
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.
Watanabe Y et al.·Tohoku J Exp Med
2019Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Morbid ObesityBariatric SurgeryTelerehabilitation

Exercise to Fight Obesity

RECRUITING
NCT06934681Phase NAInstituto de Investigacion Sanitaria La FeStarted 2025-05-19
Usual Care GroupControlled exercise with telerehabilitation

External Resources

Links to major genomics databases and tools