TMEM98: Transmembrane Protein 98 – Gene, Function, and Clinical Significance
A comprehensive biomedical overview of TMEM98, including genomic annotation, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TMEM98 |
|---|---|
| Full Name | Transmembrane Protein 98 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 26011 ncbi.nlm.nih.gov/gene/26011 |
| Ensembl ID | ENSG00000108342 |
| UniProt ID | Q9Y2Z9 |
| OMIM ID | 615924 |
| HGNC ID | 24587 |
| Aliases | FLJ12505, MGC138290, PRO1773 |
Description
TMEM98 (Transmembrane Protein 98) is a protein-coding gene located on chromosome 17q11.2. It encodes a multi-pass transmembrane protein of unknown function. The gene is expressed in various tissues, with highest levels in the lung, kidney, and testis. TMEM98 has been implicated in autosomal dominant nanophthalmos (OMIM #615924) and is associated with altered expression in certain cancers. Its precise molecular function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nanophthalmos 1 (NNO1) | Missense mutations in TMEM98 are associated with autosomal dominant nanophthalmos, likely through altered protein function affecting eye development. | OMIM #615924; PMID 25412457 |
| Breast cancer | TMEM98 expression is upregulated in breast cancer tissues; potential role in tumor progression. | COSMIC; PMID 25691885 |
| Lung cancer | Differential expression of TMEM98 observed in lung adenocarcinoma. | COSMIC; PMID 27197191 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 8.7 | nTPM from GTEx/CCLE |
| HEK 293 (embryonic kidney) | 7.2 | nTPM from GTEx/CCLE |
| MCF7 (breast cancer) | 6.5 | nTPM from GTEx/CCLE |
| HepG2 (liver cancer) | 4.1 | nTPM from GTEx/CCLE |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.557C>T (p.Thr186Ile) | Missense | Rare | Associated with nanophthalmos; likely gain-of-function or dominant-negative effect |
| c.650G>A (p.Arg217Gln) | Missense | Rare | Reported in nanophthalmos; functional impact uncertain |
| c.1A>G (p.Met1?) | Start loss | Very rare | Predicted loss-of-function; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., c.1A>G) are predicted to cause loss of protein function, but no confirmed loss-of-function disease association.
Gain of Function (GOF)
Missense mutations (e.g., p.Thr186Ile) in nanophthalmos are hypothesized to confer gain-of-function or altered protein activity.
Dominant Negative (DN)
Some nanophthalmos-associated TMEM98 mutations may act via dominant-negative mechanism, but experimental evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) |
Protein Summary
TMEM98 encodes a 225-amino-acid transmembrane protein with multiple membrane-spanning domains. The protein localizes to the plasma membrane and may be involved in cell-cell signaling or structural integrity. Its exact biochemical function is not yet fully characterized, but mutations are linked to eye development disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM98 Knockout HEK293 Cell Line | EDJ-KQ8357 | Human | 26022 | Details Get a Quote |
| TMEM98 Knockout A-549 Cell Line | EDJ-KQ34388 | Human | 26022 | Details Get a Quote |
| TMEM98 Knockout HCT 116 Cell Line | EDJ-KQ34389 | Human | 26022 | Details Get a Quote |
| TMEM98 Knockout HeLa Cell Line | EDJ-KQ55867 | Human | 26022 | Details Get a Quote |
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