TMEM53: Transmembrane Protein 53
A transmembrane protein implicated in bone development and craniotubular dysplasia
Gene Information Card
| Symbol | TMEM53 |
|---|---|
| Full Name | Transmembrane Protein 53 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 79639 ncbi.nlm.nih.gov/gene/79639 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9BVK6 |
| OMIM ID | 617972 |
| HGNC ID | 26119 |
| Aliases | FLJ20254, NET4 |
Description
TMEM53 encodes a transmembrane protein of unknown function, predicted to localize to the endoplasmic reticulum or Golgi. It is highly expressed in bone and cartilage tissues. Mutations in TMEM53 cause autosomal recessive craniotubular dysplasia (CTD), characterized by bone overgrowth and sclerosis. The protein may regulate bone morphogenetic protein (BMP) signaling or osteoblast differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniotubular dysplasia (CTD) | Loss-of-function mutations impair bone remodeling, leading to hyperostosis and sclerosis | OMIM #617972; PMID: 30595372 |
| Osteosclerosis | Potential role in osteoblast activity; TMEM53 deficiency increases bone mass | PMID: 30595372 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 10.2 | Medium |
| Lung | 6.8 | Low |
| Kidney | 5.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hFOB 1.19 (osteoblast) | 15.3 | High expression |
| MG-63 (osteosarcoma) | 9.8 | Moderate expression |
| HEK293 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | Rare | Loss of function; associated with CTD |
| c.340_341del (p.Leu114fs) | Frameshift | Rare | Loss of function; truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein |
Mutation functional classification
Loss of Function (LOF)
Missense, frameshift, and start-loss mutations reduce or abolish TMEM53 function, leading to craniotubular dysplasia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • endoplasmic reticulum (GO:0005783) |
| • Golgi apparatus (GO:0005794) | • skeletal system development (GO:0001501) |
Pathways
• BMP signaling pathway (inferred)
• Osteoblast differentiation (inferred)
Protein Summary
TMEM53 is a 232-amino-acid transmembrane protein with a single transmembrane domain. It is predicted to localize to the endoplasmic reticulum or Golgi. The protein is highly conserved in vertebrates and is expressed predominantly in bone and cartilage. Loss-of-function mutations cause craniotubular dysplasia, a rare autosomal recessive disorder characterized by bone overgrowth and sclerosis. The exact molecular function remains unknown, but TMEM53 may modulate BMP signaling or osteoblast activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM53 Knockout HEK293 Cell Line | EDJ-KQ15770 | Human | 79639 | Details Get a Quote |
| TMEM53 Knockout A-549 Cell Line | EDJ-KQ48951 | Human | 79639 | Details Get a Quote |
| TMEM53 Knockout HCT 116 Cell Line | EDJ-KQ48952 | Human | 79639 | Details Get a Quote |
| TMEM53 Knockout HeLa Cell Line | EDJ-KQ48953 | Human | 79639 | Details Get a Quote |
