FAM9B: A Testis-Expressed Gene with Potential Roles in Spermatogenesis
Comprehensive genomic and functional overview of FAM9B, a member of the FAM9 gene family on chromosome X.
Gene Information Card
| Symbol | FAM9B |
|---|---|
| Full Name | Family With Sequence Similarity 9 Member B |
| Gene Type | Protein-coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 171483 ncbi.nlm.nih.gov/gene/171483 |
| Ensembl ID | ENSG00000177144 |
| UniProt ID | Q8IZJ1 |
| OMIM ID | 300576 |
| HGNC ID | 18737 |
| Aliases | TEX39B, TEX39, FAM9B1 |
Description
FAM9B (Family With Sequence Similarity 9 Member B) is a protein-coding gene located on the X chromosome at Xp22.31. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene belongs to the FAM9 family, which includes several testis-specific genes. FAM9B has been implicated in male infertility and may be involved in meiotic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential role in spermatogenesis; reduced expression may impair sperm production | Limited evidence from expression studies; no direct ClinVar or OMIM disease association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 0.8 | Low |
| Prostate | 0.6 | Low |
| Fallopian tube | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 5.2 | Testis-derived; moderate expression |
| Embryonic stem cells (H1) | 0.3 | Low expression |
| HeLa | 0.1 | Not expressed |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no functional data |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
Not applicable; no dominant-negative mechanisms reported.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis | • meiotic cell cycle |
| • protein binding | • nucleus |
Pathways
• No specific pathways curated in Reactome or KEGG for FAM9B.
Protein Summary
The FAM9B protein (UniProt Q8IZJ1) is 221 amino acids long and contains a conserved domain of unknown function (DUF). It is localized to the nucleus and is expressed primarily in testicular germ cells. The protein may interact with other meiotic factors, though its exact biochemical function remains unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM9B Knockout HEK293 Cell Line | EDJ-KQ13356 | Human | 171483 | Details Get a Quote |
| FAM9B Knockout HeLa Cell Line | EDJ-KQ58955 | Human | 171483 | Details Get a Quote |
| FAM9B Knockout A-549 Cell Line | EDJ-KQ67442 | Human | 171483 | Details Get a Quote |
| FAM9B Knockout HCT 116 Cell Line | EDJ-KQ75837 | Human | 171483 | Details Get a Quote |
