TMEM94: Transmembrane Protein 94
A gene encoding a transmembrane protein implicated in intellectual disability and congenital anomalies.
Gene Information Card
| Symbol | TMEM94 |
|---|---|
| Full Name | Transmembrane Protein 94 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 9770 ncbi.nlm.nih.gov/gene/9770 |
| Ensembl ID | ENSG00000108984 |
| UniProt ID | Q6P1X6 |
| OMIM ID | 618163 |
| HGNC ID | 28983 |
| Aliases | FLJ12505, KIAA0195, MGC138290 |
Description
TMEM94 encodes a transmembrane protein of unknown function, localized to the endoplasmic reticulum and Golgi apparatus. It is involved in protein glycosylation and intracellular trafficking. Biallelic loss-of-function mutations cause a neurodevelopmental disorder with intellectual disability, facial dysmorphism, and multiple congenital anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with dysmorphic facies and congenital anomalies (IDDDFC) | Loss-of-function mutations impair protein glycosylation and trafficking, leading to developmental defects. | OMIM #618163; PMID: 30929742 |
| Autosomal recessive intellectual disability | Homozygous or compound heterozygous TMEM94 mutations disrupt normal brain development. | ClinVar; PMID: 30929742 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 5.6 | Low expression |
| HepG2 | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35*) | Nonsense | Rare | Loss of function |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Likely loss of function |
| c.1687_1688del (p.Leu563fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, splice-site) cause IDDDFC.
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)
| • endoplasmic reticulum (GO:0005783) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) | • protein glycosylation (GO:0006486) |
| • retrograde vesicle-mediated transport (GO:0006890) |
Pathways
• Protein glycosylation in the ER and Golgi
• Intracellular vesicle trafficking
Protein Summary
TMEM94 is a 1,024-amino-acid transmembrane protein with multiple membrane-spanning domains. It localizes to the endoplasmic reticulum and Golgi, where it is thought to participate in protein glycosylation and vesicle trafficking. Its precise molecular function remains under investigation, but loss of function leads to a syndromic form of intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM94 Knockout HEK293 Cell Line | EDJ-KQ6741 | Human | 9772 | Details Get a Quote |
| TMEM94 Knockout A-549 Cell Line | EDJ-KQ31139 | Human | 9772 | Details Get a Quote |
| TMEM94 Knockout HCT 116 Cell Line | EDJ-KQ31140 | Human | 9772 | Details Get a Quote |
| TMEM94 Knockout HeLa Cell Line | EDJ-KQ31141 | Human | 9772 | Details Get a Quote |
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