AHCYL2
Adenosylhomocysteinase Like 2
Gene Information Card
| Symbol | AHCYL2 |
|---|---|
| Full Name | Adenosylhomocysteinase Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 23382 ncbi.nlm.nih.gov/gene/23382 |
| Ensembl ID | ENSG00000106633 |
| UniProt ID | Q96HN2 |
| OMIM ID | 613861 |
| HGNC ID | 21586 |
| Aliases | IRBIT, DC12, PRO0993, FLJ10305 |
Description
AHCYL2 (Adenosylhomocysteinase Like 2) encodes a protein that shares sequence similarity with S-adenosylhomocysteine hydrolase but lacks enzymatic activity. The protein functions as an inositol 1,4,5-trisphosphate (IP3) receptor-binding protein, regulating IP3 receptor activity and calcium signaling. It is also involved in cellular processes such as cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression and potential role in cell proliferation | COSMIC; PMID: 25686104 |
| Colorectal cancer | Mutations and expression changes observed | COSMIC; PMID: 22810696 |
| Breast cancer | Somatic mutations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney cells |
| HepG2 | 9.5 | Hepatocellular carcinoma cells |
| A549 | 7.8 | Lung carcinoma cells |
| MCF7 | 11.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| c.1789_1790insA (p.Thr597Asnfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been characterized.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • inositol 1 | • 4 |
| • 5-trisphosphate binding | • calcium channel regulator activity |
| • cytoplasm | • endoplasmic reticulum |
| • cell proliferation |
Pathways
• IP3 receptor-mediated calcium signaling
• Calcium signaling pathway
Protein Summary
The AHCYL2 protein (UniProt Q96HN2) is a 530-amino acid protein that contains an N-terminal domain similar to S-adenosylhomocysteine hydrolase but lacks catalytic residues. It binds to the IP3 receptor and modulates calcium release from the endoplasmic reticulum. The protein is widely expressed and implicated in cell growth and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHCYL2 Knockout HEK293 Cell Line | EDJ-KQ7999 | Human | 23382 | Details Get a Quote |
| AHCYL2 Knockout A-549 Cell Line | EDJ-KQ33745 | Human | 23382 | Details Get a Quote |
| AHCYL2 Knockout HCT 116 Cell Line | EDJ-KQ33746 | Human | 23382 | Details Get a Quote |
| AHCYL2 Knockout HeLa Cell Line | EDJ-KQ33747 | Human | 23382 | Details Get a Quote |
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