TMEM64: Transmembrane Protein 64
A regulator of calcium signaling and osteoclast differentiation
Gene Information Card
| Symbol | TMEM64 |
|---|---|
| Full Name | Transmembrane Protein 64 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 169200 ncbi.nlm.nih.gov/gene/169200 |
| Ensembl ID | ENSG00000180901 |
| UniProt ID | Q5HYA8 |
| OMIM ID | 616892 |
| HGNC ID | 28000 |
| Aliases | C8orf2, MGC12972 |
Description
TMEM64 encodes a transmembrane protein that plays a role in calcium signaling and osteoclast differentiation. It is involved in the regulation of intracellular calcium levels and may influence bone remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | Altered calcium signaling affecting osteoclast activity | PMID: 24556618 |
| Bone density variation | Modulation of osteoclast differentiation | PMID: 24556618 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 3.2 | Low |
| Spleen | 2.8 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 4.1 | Leukemia cell line |
| HeLa | 2.0 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T | Missense | <0.01% | p.Pro146Leu; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not reported
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • integral component of membrane (GO:0016021) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
TMEM64 is a multi-pass transmembrane protein of unknown detailed structure. It is predicted to localize to the endoplasmic reticulum or plasma membrane and may modulate calcium flux. Its expression is enriched in bone marrow and spleen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM64 Knockout HEK293 Cell Line | EDJ-KQ2497 | Human | 169200 | Details Get a Quote |
| TMEM64 Knockout A-549 Cell Line | EDJ-KQ23089 | Human | 169200 | Details Get a Quote |
| TMEM64 Knockout HCT 116 Cell Line | EDJ-KQ23090 | Human | 169200 | Details Get a Quote |
| TMEM64 Knockout HeLa Cell Line | EDJ-KQ23091 | Human | 169200 | Details Get a Quote |
