Details for: AOC2

Gene ID: 314

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: AOC2

Ensembl ID: ENSG00000131480

Description: amine oxidase copper containing 2

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 13.2
    rCSI 15.99%
    PRS 99.32

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [AOC2](/details-gene/314) (Amine Oxidase Copper Containing 2) is a protein-coding gene located on chromosome 17q21.31. It encodes a semicarbazide-sensitive amine oxidase that belongs to the copper/topa quinone family of enzymes. Functionally, [AOC2](/details-gene/314) is involved in the metabolic processing of amines, including catecholamines and xenobiotics, through its aliphatic amine oxidase activity. While originally identified as a retina-specific protein, and later shown to be highly expressed in adipocytes, expression data also suggests a significant role within specific immune cell subsets, particularly memory T cells. Its clinical significance is noted under OMIM entry [602268](https://omim.org/entry/602268). ## Cellular Roles and Expression Landscape The expression profile of [AOC2](/details-gene/314) points to specialized roles in both metabolic and immune tissues. * **Immune System:** A comprehensive **Overall** analysis of expression reveals that [AOC2](/details-gene/314) is a significant marker in [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) (CSI: 13.20). This suggests a potential role for the gene in the metabolic regulation or function of this specific lymphocyte subset, which is involved in long-term immunological memory. * **Metabolic and Sensory Tissues:** Beyond the immune system, literature has firmly established the presence of [AOC2](/details-gene/314) in other specific cell types. It was initially cloned from the retina and described as a human retina-specific amine oxidase ([Link](https://doi.org/10.1006/geno.1996.4570); [Link](https://doi.org/10.1006/geno.1998.5357)). Subsequent research has demonstrated high expression in human adipocytes, where its levels increase during adipogenesis ([Link](https://doi.org/10.1007/s000110300061); [Link](https://doi.org/10.1016/j.biochi.2007.02.013)). This dual expression pattern suggests that [AOC2](/details-gene/314) may perform tissue-specific metabolic functions tailored to the unique environments of the retina, adipose tissue, and memory T cells. ## Pathways and Molecular Function The functional annotations for [AOC2](/details-gene/314) are consistent with its role as a metabolic enzyme. It is localized to the [cytoplasm](/content/detail/GO:0005737) and [plasma membrane](/content/detail/GO:0005886), where it participates in several key processes. * **Metabolic Processes:** [AOC2](/details-gene/314) is a key participant in the [Amine metabolic process](/content/detail/GO:0009308) and specifically the [Catecholamine metabolic process](/content/detail/GO:0006584). This is further supported by its inclusion in broad Reactome pathways such as [Biological oxidations](/content/detail/R-HSA-211859) and [Metabolism](/content/detail/R-HSA-1430728). Its activity also extends to the [Xenobiotic metabolic process](/content/detail/GO:0006805), indicating a role in detoxifying foreign chemical compounds, a process detailed in the [Phase I - functionalization of compounds](/content/detail/R-HSA-211945) pathway. * **Molecular Activity:** At the molecular level, its primary function is [Aliphatic amine oxidase activity](/content/detail/GO:0052595), with a more specific action as a [Primary methylamine oxidase](/content/detail/GO:0008131) ([Link](https://doi.org/10.1007/s00018-009-0076-5)). This enzymatic function requires [Copper ion binding](/content/detail/GO:0005507) and involves [Electron transfer activity](/content/detail/GO:0009055). It is also annotated with [Quinone binding](/content/detail/GO:0048038) and general [Protein binding](/content/detail/GO:0005515) capabilities. ## Research Directions The diverse expression pattern of [AOC2](/details-gene/314) across seemingly unrelated tissues like the retina, adipocytes, and memory T cells presents intriguing questions about its context-specific functions. **Proposed Hypotheses:** 1. The significant expression of [AOC2](/details-gene/314) in [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) suggests it plays a role in modulating T cell function by metabolizing local biogenic amines. This activity could be critical for T cell survival, differentiation, or effector function in amine-rich microenvironments, such as those found in tumors or inflamed tissues. 2. In adipocytes, [AOC2](/details-gene/314) may regulate lipid metabolism or insulin sensitivity by controlling the local concentrations of catecholamines or other amine signaling molecules, thereby linking amine metabolism directly to systemic metabolic health. **Experimental Approach:** To test the first hypothesis regarding the role of [AOC2](/details-gene/314) in memory T cells, a focused experimental plan could be implemented. Primary [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) could be isolated from healthy human donors. The [AOC2](/details-gene/314) gene could then be silenced using lentiviral-mediated shRNA or knocked out using CRISPR-Cas9. The functional consequences of [AOC2](/details-gene/314) loss could be assessed by measuring key T cell functions in vitro, such as proliferation (via CFSE dilution), cytokine production (e.g., IFN-gamma, TNF-alpha via ELISA or flow cytometry), and metabolic fitness (e.g., via Seahorse XF analysis) following T-cell receptor stimulation. **Therapeutic Potential:** As an enzyme, [AOC2](/details-gene/314) is a druggable target. If its activity in memory T cells is found to suppress anti-tumor immunity by depleting activating amines or producing inhibitory metabolites, then a small molecule inhibitor of [AOC2](/details-gene/314) could serve as a novel immunotherapy. Such a drug could potentially enhance the efficacy of existing cancer therapies by boosting the function of tumor-infiltrating memory T cells. Conversely, if its role in adipocytes is proven to be beneficial for metabolic health, developing agonists could be a therapeutic strategy for metabolic disorders. Its tissue-specific expression pattern suggests that targeted therapies may be developed with a reduced risk of widespread off-target effects.

Genular Protein ID: 303692917

Symbol: AOC2_HUMAN

Name: N/A

UniProtKB Accession Codes:

O75106 A5PKW2 O00120 O75105 Q4TTW5 Q9UNY0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 34 ChEMBL 1 DNASU 1 DisGeNET 1 EC 1 EMBL 8 Ensembl 2 GO 11 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 6 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9119395

Title: Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping.

PubMed ID: 9119395

DOI: 10.1006/geno.1996.4570

PubMed ID: 9722954

Title: Human retina-specific amine oxidase: genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina.

PubMed ID: 9722954

DOI: 10.1006/geno.1998.5357

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12755418

Title: High expression of semicarbazide-sensitive amine oxidase genes AOC2 and AOC3, but not the diamine oxidase gene AOC1 in human adipocytes.

PubMed ID: 12755418

DOI: 10.1007/s000110300061

PubMed ID: 17400359

Title: Adipogenesis-related increase of semicarbazide-sensitive amine oxidase and monoamine oxidase in human adipocytes.

PubMed ID: 17400359

DOI: 10.1016/j.biochi.2007.02.013

PubMed ID: 19588076

Title: The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase.

PubMed ID: 19588076

DOI: 10.1007/s00018-009-0076-5

Sequence Information:

  • Length: 756
  • Mass: 83673
  • Checksum: 10263D8D56D3BD25
  • Sequence:
    • MHLKIVLAFL ALSLITIFAL AYVLLTSPGG SSQPPHCPSV SHRAQPWPHP GQSQLFADLS 
REELTAVMRF LTQRLGPGLV DAAQAQPSDN CIFSVELQLP PKAAALAHLD RGSPPPAREA 
LAIVLFGGQP QPNVSELVVG PLPHPSYMRD VTVERHGGPL PYHRRPVLRA EFTQMWRHLK 
EVELPKAPIF LSSTFNYNGS TLAAVHATPR GLRSGDRATW MALYHNISGV GLFLHPVGLE 
LLLDHRALDP AHWTVQQVFY LGHYYADLGQ LEREFKSGRL EVVRVPLPPP NGASSLRSRN 
SPGPLPPLQF SPQGSQYSVQ GNLVVSSLWS FTFGHGVFSG LRIFDVRFQG ERIAYEVSVQ 
ECVSIYGADS PKTMLTRYLD SSFGLGRNSR GLVRGVDCPY QATMVDIHIL VGKGAVQLLP 
GAVCVFEEAQ GLPLRRHHNY LQNHFYGGLA SSALVVRSVS SVGNYDYIWD FVLYPNGALE 
GRVHATGYIN TAFLKGGEEG LLFGNRVGER VLGTVHTHAF HFKLDLDVAG LKNWVVAEDV 
VFKPVAAPWN PEHWLQRPQL TRQVLGKEDL TAFSLGSPLP RYLYLASNQT NAWGHQRGYR 
IQIHSPLGIH IPLESDMERA LSWGRYQLVV TQRKEEESQS SSIYHQNDIW TPTVTFADFI 
NNETLLGEDL VAWVTASFLH IPHAEDIPNT VTLGNRVGFL LRPYNFFDED PSIFSPGSVY 
FEKGQDAGLC SINPVACLPD LAACVPDLPP FSYHGF