ASPHD2: Aspartate Beta-Hydroxylase Domain Containing 2
Comprehensive genomic and functional analysis of ASPHD2, a gene encoding a putative dioxygenase involved in cellular metabolism and linked to neurodevelopmental disorders.
Gene Information Card
| Symbol | ASPHD2 |
|---|---|
| Full Name | Aspartate Beta-Hydroxylase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 57105 ncbi.nlm.nih.gov/gene/57105 |
| Ensembl ID | ENSG00000100299 |
| UniProt ID | Q6P4F2 |
| OMIM ID | 615654 |
| HGNC ID | 25340 |
| Aliases | FLJ22662, dJ1181N3.1 |
Description
ASPHD2 (Aspartate Beta-Hydroxylase Domain Containing 2) is a protein-coding gene located on chromosome 22q12.1. It encodes a putative dioxygenase enzyme containing an aspartate beta-hydroxylase domain, which may be involved in post-translational hydroxylation of proteins. The gene is broadly expressed in human tissues, with highest levels in the brain, and has been implicated in neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. ASPHD2 is also a candidate gene in the 22q11.2 deletion syndrome region.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder (autism spectrum disorder, intellectual disability) | Haploinsufficiency or altered expression due to 22q11.2 deletion; potential loss-of-function variants | ClinVar, OMIM |
| 22q11.2 deletion syndrome (DiGeorge syndrome) | ASPHD2 lies within the typical 22q11.2 deletion region; reduced gene dosage may contribute to neurological phenotypes | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 8.1 | Medium |
| Heart | 5.3 | Low |
| Liver | 2.1 | Low |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 6.2 | Common expression system |
| HeLa (cervical carcinoma) | 4.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; reported in neurodevelopmental cohorts |
| c.250_251del (p.Glu84fs) | Frameshift | Very rare | Predicted loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants are predicted to cause loss of function via protein truncation or absence.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ASPHD2.
Dominant Negative (DN)
No known dominant-negative mechanisms reported.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • oxidoreductase activity (GO:0016491) |
| • oxidation-reduction process (GO:0055114) | • cytoplasm (GO:0005737) |
Pathways
• No specific curated pathways; putative role in protein hydroxylation and cellular metabolism.
Protein Summary
ASPHD2 encodes a 337-amino acid protein containing an aspartate beta-hydroxylase domain, suggesting it functions as a dioxygenase that hydroxylates aspartate or asparagine residues in target proteins. The protein is localized to the cytoplasm and is predicted to participate in oxidation-reduction reactions. Its expression in the brain and association with 22q11.2 deletion syndrome highlight a potential role in neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPHD2 Knockout HEK293 Cell Line | EDJ-KQ12459 | Human | 57168 | Details Get a Quote |
| ASPHD2 Knockout A-549 Cell Line | EDJ-KQ41396 | Human | 57168 | Details Get a Quote |
| ASPHD2 Knockout HCT 116 Cell Line | EDJ-KQ41397 | Human | 57168 | Details Get a Quote |
| ASPHD2 Knockout HeLa Cell Line | EDJ-KQ56818 | Human | 57168 | Details Get a Quote |
