AlphaFold predicted structure
B9D2 · Q9BPU9
Mean pLDDT
89.6/ 100
Confident
175 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)31%
- Low(50–70)5%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
B9D2
Chr 19q13.2B9 domain containing 2
- Aliases:
- MGC4093, MKS10, MKSR-2
- MANE:
- ENST00000243578.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalFamilial Neural Tube Defects
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Joubert syndrome
0.80Meckel syndrome
0.75Joubert syndrome 34
0.66Joubert syndrome and related disorders
0.46coronary artery disorder
0.36colorectal cancer
0.32migraine disorder
0.26heart disorder
0.24osteoarthritis, hip
0.24total joint arthroplasty
0.24
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
B9 domain-containing protein 2
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes
Diseases associated with B9D2
Curated MONDO disease pages that list B9D2 among their top associated genes.