SERHL2: Serine Hydrolase-Like 2 Gene Overview
Comprehensive biomedical reference for SERHL2, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | SERHL2 |
|---|---|
| Full Name | serine hydrolase-like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 253190 ncbi.nlm.nih.gov/gene/253190 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q8N3X1 |
| OMIM ID | 614253 |
| HGNC ID | 26780 |
| Aliases | FLJ22662, MGC138290 |
Description
SERHL2 (serine hydrolase-like 2) is a protein-coding gene located on chromosome 22q13.1. The encoded protein contains a serine hydrolase domain, though its specific enzymatic function remains under investigation. SERHL2 is expressed in various tissues and has been implicated in cancer through mutational studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Somatic mutations in SERHL2 have been identified in tumor samples; functional impact is not fully characterized. | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.5 | Medium |
| Brain | 4.2 | Low |
| Liver | 2.1 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | 0.02% | Unknown |
| c.112C>T (p.Arg38Trp) | Missense | 0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • cytoplasm (GO:0005737) |
Protein Summary
SERHL2 encodes a 346-amino acid protein with a predicted serine hydrolase domain. The protein is localized to the cytoplasm and may participate in hydrolytic reactions, though its precise biological role is not yet fully defined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERHL2 Knockout HEK293 Cell Line | EDJ-KQ11731 | Human | 253190 | Details Get a Quote |
| SERHL2 Knockout HCT 116 Cell Line | EDJ-KQ40095 | Human | 253190 | Details Get a Quote |
| SERHL2 Knockout HeLa Cell Line | EDJ-KQ40096 | Human | 253190 | Details Get a Quote |
| SERHL2 Knockout A-549 Cell Line | EDJ-KQ67708 | Human | 253190 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
