FAM149B1
Family With Sequence Similarity 149 Member B1
Gene Information Card
| Symbol | FAM149B1 |
|---|---|
| Full Name | Family With Sequence Similarity 149 Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 317662 ncbi.nlm.nih.gov/gene/317662 |
| Ensembl ID | ENSG00000165801 |
| UniProt ID | Q96M96 |
| OMIM ID | 618413 |
| HGNC ID | 29169 |
| Aliases | MGC24047, FLJ90652 |
Description
FAM149B1 encodes a protein involved in ciliary function and is associated with Joubert syndrome and nephronophthisis. The gene is located on chromosome 10q22.2 and is expressed in various tissues, particularly those with ciliated cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss of function leads to ciliary dysfunction affecting cerebellar and retinal development | ClinVar, OMIM |
| Nephronophthisis | Defects in ciliary signaling cause renal tubular degeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.1 | Low |
| Brain | 6.5 | Low |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| HepG2 | 6.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.295C>T (p.Arg99*) | Nonsense | Rare | Loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of ciliary function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Protein transport |
| • Cell projection organization |
Pathways
• Ciliopathy pathway
• Hedgehog signaling pathway
Protein Summary
FAM149B1 is a 449-amino acid protein localized to the ciliary base and involved in ciliogenesis. It interacts with other ciliary proteins to facilitate intraflagellar transport and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM149B1 Knockout HEK293 Cell Line | EDJ-KQ8876 | Human | 317662 | Details Get a Quote |
| FAM149B1 Knockout A-549 Cell Line | EDJ-KQ35197 | Human | 317662 | Details Get a Quote |
| FAM149B1 Knockout HCT 116 Cell Line | EDJ-KQ35198 | Human | 317662 | Details Get a Quote |
| FAM149B1 Knockout HeLa Cell Line | EDJ-KQ35199 | Human | 317662 | Details Get a Quote |
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