AMDHD2: Amidohydrolase Domain Containing 2
A gene encoding a putative amidohydrolase enzyme involved in metabolic processes.
Gene Information Card
| Symbol | AMDHD2 |
|---|---|
| Full Name | Amidohydrolase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 55847 ncbi.nlm.nih.gov/gene/55847 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q9Y303 |
| OMIM ID | 615152 |
| HGNC ID | 25779 |
| Aliases | FLJ20254, MGC138290 |
Description
AMDHD2 (Amidohydrolase Domain Containing 2) is a protein-coding gene located on chromosome 2p22.1. The encoded protein belongs to the amidohydrolase superfamily and is predicted to function in metabolic pathways involving the hydrolysis of amide bonds. Expression data suggest broad tissue distribution, with highest levels in the liver and kidney. The gene is conserved across eukaryotes, and its exact physiological substrate remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 7.2 | Low |
| Brain | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Liver cancer cell line |
| HEK293 | 8.6 | Embryonic kidney cells |
| K562 | 6.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown significance |
| c.245C>T | Synonymous | <0.01% | No effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • amidohydrolase activity | • metal ion binding |
| • hydrolase activity |
Pathways
• Metabolic pathways (KEGG)
Protein Summary
The AMDHD2 protein (UniProt Q9Y303) is a 448-amino acid amidohydrolase domain-containing enzyme. It is predicted to localize to the cytoplasm and may participate in nitrogen metabolism or amino acid catabolism. Structural homology suggests a TIM barrel fold typical of amidohydrolases, with a conserved catalytic triad. No 3D structure has been experimentally determined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMDHD2 Knockout HEK293 Cell Line | EDJ-KQ51268 | Human | 51005 | Details Get a Quote |
| AMDHD2 Knockout HeLa Cell Line | EDJ-KQ56209 | Human | 51005 | Details Get a Quote |
| AMDHD2 Knockout A-549 Cell Line | EDJ-KQ64700 | Human | 51005 | Details Get a Quote |
| AMDHD2 Knockout HCT 116 Cell Line | EDJ-KQ73146 | Human | 51005 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
