B9D2 Chromosome 19
B9 domain containing 2
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What This Gene Does
This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"B9 domain containing|MKS complex"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000123810
Associated Conditions (9)
Joubert syndrome
Meckel-Gruber syndrome
B9D2-related disorder
Malignant tumor of urinary bladder
Ciliopathy
Meckel syndrome
type 10
Joubert syndrome and related disorders
Joubert syndrome 34
Key Variants
RS148087680
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, B9D2-related disorder
Health Risk
RS1388769907
Likely pathogenic
Meckel syndrome, type 10, Meckel syndrome
Health Risk
RS1568484575
Likely pathogenic
Meckel syndrome, type 10, Meckel syndrome
Health Risk
RS2513398193
Likely pathogenic
Joubert syndrome and related disorders, Joubert syndrome and related disorders
Health Risk
RS2513408240
Likely pathogenic
Joubert syndrome and related disorders, Joubert syndrome and related disorders
Health Risk
RS1487082103
Pathogenic
Meckel syndrome, type 10, Joubert syndrome and related disorders
Health Risk
RS757863670
Pathogenic
Joubert syndrome, Joubert syndrome 34, Joubert syndrome
Health Risk
RS750436680
Pathogenic/Likely pathogenic
Joubert syndrome, Joubert syndrome 34, Joubert syndrome and related disorders
Health Risk
RS786204189
Pathogenic/Likely pathogenic
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS863225150
Pathogenic/Likely pathogenic
Joubert syndrome, Joubert syndrome and related disorders, Joubert syndrome 34
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148087680 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, B9D2-related disorder |
| RS1388769907 | Health Risk | Likely pathogenic | Meckel syndrome, type 10, Meckel syndrome |
| RS1568484575 | Health Risk | Likely pathogenic | Meckel syndrome, type 10, Meckel syndrome |
| RS2513398193 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2513408240 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS1487082103 | Health Risk | Pathogenic | Meckel syndrome, type 10, Joubert syndrome and related disorders |
| RS757863670 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome 34, Joubert syndrome |
| RS750436680 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Joubert syndrome 34, Joubert syndrome and related disorders |
| RS786204189 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS863225150 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Joubert syndrome and related disorders, Joubert syndrome 34 |