B9D1

Chr 17p11.2

B9 domain containing 1

Aliases:: B9, EPPB9, MKS9, MKSR-1
MANE:: ENST00000261499.11

OMIM: 614144 ↗NCBI: 27077 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

B9D1 · Q9UPM9

v62025-08-01

Predicted Aligned Error matrix for B9D1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.7/ 100

Confident

204 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)13%
Low(50–70)24%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Polycystic liver disease
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial Neural Tube Defects
BIALLELIC, autosomal or pseudoautosomal
Limb disorders

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Disease associations (Open Targets)

Meckel syndrome
0.74
Joubert syndrome
0.73
Meckel syndrome, type 9
0.67
Joubert syndrome 27
0.65
hereditary disease
0.41
ciliopathy
0.41
Joubert syndrome and related disorders
0.38
preeclampsia
0.28
self-injurious ideation
0.13
Jeune syndrome
0.13

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

B9 domain-containing protein 1

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. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)