FAHD2A
Fumarylacetoacetate Hydrolase Domain Containing 2A
Gene Information Card
| Symbol | FAHD2A |
|---|---|
| Full Name | Fumarylacetoacetate Hydrolase Domain Containing 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 51011 ncbi.nlm.nih.gov/gene/51011 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q96GX7 |
| OMIM ID | 615906 |
| HGNC ID | 25980 |
| Aliases | FAHD2, CGI-105, MGC13170 |
Description
FAHD2A encodes a mitochondrial protein with fumarylacetoacetate hydrolase domain, involved in oxaloacetate decarboxylase activity and mitochondrial metabolism. It is part of the FAH superfamily and may play a role in cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| HepG2 | 9.5 | Medium expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare (ExAC <0.01%) | Unknown functional effect |
| c.452A>G (p.Tyr151Cys) | Missense | Rare (gnomAD <0.01%) | Unknown functional 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)
| • fumarylacetoacetase activity | • oxaloacetate decarboxylase activity |
| • mitochondrion | • hydrolase activity |
Pathways
• Tyrosine metabolism
• Metabolic pathways
Protein Summary
FAHD2A is a 314-amino acid mitochondrial protein containing a fumarylacetoacetate hydrolase domain. It exhibits oxaloacetate decarboxylase activity and is implicated in mitochondrial metabolic processes. The protein is ubiquitously expressed with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAHD2A Knockout HEK293 Cell Line | EDJ-KQ10869 | Human | 51011 | Details Get a Quote |
| FAHD2A Knockout A-549 Cell Line | EDJ-KQ38542 | Human | 51011 | Details Get a Quote |
| FAHD2A Knockout HCT 116 Cell Line | EDJ-KQ38543 | Human | 51011 | Details Get a Quote |
| FAHD2A Knockout HeLa Cell Line | EDJ-KQ38544 | Human | 51011 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
