FAM149B1

Chr 10q22.2

family with sequence similarity 149 member B1

MANE:: ENST00000242505.11

OMIM: 618413 ↗NCBI: 317662 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FAM149B1 · Q96BN6

v62025-08-01

Predicted Aligned Error matrix for FAM149B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

52.0/ 100

Low

582 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)11%
Low(50–70)22%
Very low(< 50)63%

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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Joubert syndrome 36
0.73
neurodegenerative disease
0.44
syndromic intellectual disability
0.37
Joubert syndrome with orofaciodigital defect
0.37
orofaciodigital syndrome type 6
0.37
Joubert syndrome
0.31
atrial fibrillation
0.31
congestive heart failure
0.19
orofaciodigital syndrome
0.18
alcohol drinking
0.05

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

Protein function (UniProt)

Primary cilium assembly protein FAM149B1

Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development