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GeneE
0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BBS10
Bardet-Biedl syndrome 10
Chromosome 12 · 12q21.2
NCBI Gene: 79738Ensembl: ENSG00000179941.10HGNC: HGNC:26291UniProt: Q8TAM1
43PubMed Papers
21Diseases
0Drugs
266Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of protein-containing complex assemblychaperone-mediated protein complex assemblyprotein bindingRNA polymerase II-specific DNA-binding transcription factor bindingBardet-Biedl syndrome 10Bardet-Biedl syndromeBardet-Biedl syndrome 1Retinal dystrophy
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

Bardet-Biedl syndrome 10

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
Bardet-Biedl syndrome 10Open Targets
0.84Strong
Bardet-Biedl syndromeOpen Targets
0.71Strong
Bardet-Biedl syndrome 1Open Targets
0.63Moderate
Retinal dystrophyOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.50Moderate
polydactylyOpen Targets
0.46Moderate
BBS10-related ciliopathyOpen Targets
0.41Moderate
retinitis pigmentosaOpen Targets
0.40Weak
obesityOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.34Weak
Foot polydactylyOpen Targets
0.34Weak
High-frequency hearing impairmentOpen Targets
0.34Weak
macular degenerationOpen Targets
0.34Weak
Postaxial hand polydactylyOpen Targets
0.34Weak
asphyxiating thoracic dystrophy 3Open Targets
0.33Weak
short rib-polydactyly syndrome, Majewski typeOpen Targets
0.33Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.20Weak
joint diseaseOpen Targets
0.20Weak
Abnormality of the integumentOpen Targets
0.15Weak
Bardet-Biedl syndrome 10UniProt
Pathogenic Variants266
NM_024685.4(BBS10):c.687del (p.Val230fs)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 10|not provided|BBS10-related disorder
★★☆☆2026→ Residue 230
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2026→ Residue 4
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 10
★★☆☆2026→ Residue 395
NM_024685.4(BBS10):c.271dup (p.Cys91fs)Pathogenic
Bardet-Biedl syndrome 10|Bardet-biedl syndrome 6/10, digenic|Bardet-Biedl syndrome|Retinitis pigmentosa|not provided|Inborn genetic diseases|Retinal dystrophy|Bardet-Biedl syndrome 1|BBS10-related disorder|Early onset severe obesity
★★☆☆2026→ Residue 91
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2026→ Residue 469
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)Likely pathogenic
not provided|Bardet-Biedl syndrome 10
★★☆☆2026→ Residue 713
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 10|BBS10-related disorder
★★☆☆2026→ Residue 602
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2026→ Residue 350
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome|not provided
★★☆☆2025→ Residue 284
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2025→ Residue 624
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome|not provided
★★☆☆2025→ Residue 3
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2025→ Residue 464
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome|Retinal dystrophy|not provided|BBS10-related disorder
★★☆☆2025→ Residue 559
NM_024685.4(BBS10):c.306_309del (p.Asp102fs)Pathogenic
not provided|Bardet-Biedl syndrome|Bardet-Biedl syndrome 10
★★☆☆2025→ Residue 102
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2025→ Residue 180
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)Pathogenic
not provided|Bardet-Biedl syndrome|Bardet-Biedl syndrome 10|Bardet-biedl syndrome 1/10, digenic|BBS10-related disorder
★★☆☆2025→ Residue 303
NM_024685.4(BBS10):c.1399del (p.Arg467fs)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 10
★★☆☆2025→ Residue 467
NM_024685.4(BBS10):c.1244del (p.His415fs)Pathogenic
Bardet-Biedl syndrome 10|Bardet-Biedl syndrome
★★☆☆2025→ Residue 415
NM_024685.4(BBS10):c.235dup (p.Thr79fs)Pathogenic
Bardet-Biedl syndrome 10|not provided|Bardet-Biedl syndrome|Retinal dystrophy
★★☆☆2025→ Residue 79
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)Pathogenic
Inborn genetic diseases|Bardet-Biedl syndrome 10|6 conditions|Bardet-Biedl syndrome|Retinal dystrophy|not provided|Bardet-Biedl syndrome 1|BBS10-related disorder
★★☆☆2025→ Residue 49
View on ClinVar ↗
Related Genes
BBS5Protein interaction100%TTC8Protein interaction100%BBIP1Protein interaction100%BBS1Protein interaction98%BBS2Protein interaction98%BBS4Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
76%
Liver
50%
Lung
46%
Ovary
45%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
BBS10BBS5TTC8BBIP1BBS1BBS2BBS4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TAM1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.62–1.42]
RankingsWhere BBS10 stands among ~20K protein-coding genes
  • #9,695of 20,598
    Most Researched43
  • #242of 5,498
    Most Pathogenic Variants266 · top 5%
  • #14,628of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedBBS10
Sources retrieved0 papers
Response time—