ABHD2
Abhydrolase domain containing 2 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||
Symbols | ABHD2 ; HS1-2; LABH2; PHPS1-2 | ||||||||||||
External IDs | OMIM: 612196 MGI: 1914344 HomoloGene: 23121 GeneCards: ABHD2 Gene | ||||||||||||
| |||||||||||||
RNA expression pattern | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 11057 | 54608 | |||||||||||
Ensembl | ENSG00000140526 | ENSMUSG00000039202 | |||||||||||
UniProt | P08910 | Q9QXM0 | |||||||||||
RefSeq (mRNA) | NM_007011 | NM_018811 | |||||||||||
RefSeq (protein) | NP_008942 | NP_061281 | |||||||||||
Location (UCSC) |
Chr 15: 89.09 – 89.2 Mb |
Chr 7: 79.27 – 79.37 Mb | |||||||||||
PubMed search | |||||||||||||
Abhydrolase domain-containing protein 2 is an enzyme that in humans is encoded by the ABHD2 gene.[1]
Function
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein.[1]
Role in disease
The ABHD2 gene is down regulated in the lungs of people with Emphysema. Analysis of ABHD2 deficiency in mice found a decrease in phosphatidylcholine levels. The mice developed emphysema which was attributed to an increase in macrophage infiltration, increased inflammatory cytokine levels, an imbalance of protease/anti-protease, and an increase in cell death. This research suggests that ABHD2 is important in maintaining the structural integrity of the lungs, and that disruption of phospholipid metabolism in the alveoli may lead to the development of emphysema.[2] Increased expression has also been seen in the lungs of smokers.[3]
ABHD2 is also expressed in atherosclerotic lesions. Expression has been found to be higher in patients with unstable angina than in patients with stable angina.[4]
Up-regulation of ABHD2 has been observed in cells transfected with Hepatitis B virus (HBV) DNA (HepG2.2.15 cells). Expression was down-regulated by the drug lamivudine, used in the treatment of hepatitis B. It has been suggested that ABHD2 has an important role in HBV propagation and could be a potential drug target in the treatment of hepatitis B.[5]
References
- 1 2 "Entrez Gene: ABHD2 abhydrolase domain containing 2".
- ↑ Jin S, Zhao G, Li Z, Nishimoto Y, Isohama Y, Shen J, Ito T, Takeya M, Araki K, He P, Yamamura K (Mar 2009). "Age-related pulmonary emphysema in mice lacking alpha/beta hydrolase domain containing 2 gene". Biochemical and Biophysical Research Communications 380 (2): 419–24. doi:10.1016/j.bbrc.2009.01.098. PMID 19250629.
- ↑ Shahdoust M; et al. (2013). "Finding genes discriminating smokers from non-smokers by applying a growing self-organizing clustering method to large airway epithelium cell microarray data.". Asian Pac J Cancer Prev. 14 (1): 111–6. doi:10.7314/apjcp.2013.14.1.111. PMID 23534707.
- ↑ Miyata K, Nakayama M, Mizuta S, Hokimoto S, Sugamura K, Oshima S, Oike Y, Sugiyama S, Ogawa H, Yamamura K (Jan 2008). "Elevated mature macrophage expression of human ABHD2 gene in vulnerable plaque". Biochemical and Biophysical Research Communications 365 (2): 207–13. doi:10.1016/j.bbrc.2007.10.127. PMID 17980156.
- ↑ Ding X, Yang J, Wang S (Mar–Apr 2011). "Antisense oligonucleotides targeting abhydrolase domain containing 2 block human hepatitis B virus propagation". Oligonucleotides 21 (2): 77–84. doi:10.1089/oli.2011.0280. PMID 21466387.
Further reading
- Miyata K, Nakayama M, Mizuta S, Hokimoto S, Sugamura K, Oshima S, Oike Y, Sugiyama S, Ogawa H, Yamamura K (Jan 2008). "Elevated mature macrophage expression of human ABHD2 gene in vulnerable plaque". Biochemical and Biophysical Research Communications 365 (2): 207–213. doi:10.1016/j.bbrc.2007.10.127. PMID 17980156.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Edgar AJ, Polak JM (Apr 2002). "Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs". Biochemical and Biophysical Research Communications 292 (3): 617–625. doi:10.1006/bbrc.2002.6692. PMID 11922611.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Rapiejko PJ, George ST, Malbon CC (Sep 1988). "Primary structure of a human protein which bears structural similarities to members of the rhodopsin/beta-adrenergic receptor family". Nucleic Acids Research 16 (17): 8721–8721. doi:10.1093/nar/16.17.8721. PMC 338599. PMID 2843827.