TM7SF2 Gene
Transmembrane 7 Superfamily Member 2
Gene Information Card
| Symbol | TM7SF2 |
|---|---|
| Full Name | Transmembrane 7 Superfamily Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 7108 ncbi.nlm.nih.gov/gene/7108 |
| Ensembl ID | ENSG00000149418 |
| UniProt ID | O76062 |
| OMIM ID | 603414 |
| HGNC ID | 11869 |
| Aliases | DHCR14A, ERG24, C14SR, D14SR, SR-1 |
Description
TM7SF2 encodes a transmembrane protein involved in cholesterol biosynthesis, specifically catalyzing the reduction of the C14-C15 double bond of sterol intermediates. The protein localizes to the endoplasmic reticulum and is expressed in various tissues, with highest levels in liver and adrenal glands. Mutations in TM7SF2 are associated with congenital adrenal hyperplasia-like phenotypes and cholesterol metabolism disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital adrenal hyperplasia-like disorder | Loss-of-function mutations impair sterol C14 reductase activity, disrupting cholesterol synthesis and adrenal steroidogenesis. | ClinVar, OMIM |
| Hypercholesterolemia | Altered TM7SF2 expression may contribute to dysregulated cholesterol homeostasis. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adrenal gland | 15.2 | Medium |
| Kidney | 8.3 | Low |
| Brain | 4.1 | Low |
| Testis | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| HEK293 | 9.2 | Embryonic kidney cells |
| HeLa | 5.6 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192*) | Nonsense | Rare | Loss of function; premature truncation of protein |
| c.1A>G (p.Met1?) | Missense | Very rare | Loss of start codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing sterol C14 reductase activity.
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)
| • C-14 sterol reductase activity (GO:0000247) | • endoplasmic reticulum (GO:0005783) |
| • cholesterol biosynthetic process (GO:0006695) | • sterol biosynthetic process (GO:0016126) |
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
TM7SF2 is a 418-amino acid transmembrane protein with multiple membrane-spanning domains. It functions as a sterol C14 reductase in the endoplasmic reticulum, converting 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol to 4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol. The protein is essential for normal cholesterol synthesis and adrenal steroid production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TM7SF2 Knockout HEK293 Cell Line | EDJ-KQ50689 | Human | 7108 | Details Get a Quote |
| TM7SF2 Knockout HeLa Cell Line | EDJ-KQ54671 | Human | 7108 | Details Get a Quote |
| TM7SF2 Knockout A-549 Cell Line | EDJ-KQ63153 | Human | 7108 | Details Get a Quote |
| TM7SF2 Knockout HCT 116 Cell Line | EDJ-KQ71626 | Human | 7108 | Details Get a Quote |
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