• Gene id: 314

Gene Summary

• Gene Symbol: AOC2   Gene   UCSC   Ensembl
• Aliases: DAO2, RAO, SSAO
• Gene name: amine oxidase copper containing 2
• Alternate names: retina-specific copper amine oxidase, amine oxidase, copper containing 2 (retina-specific), semicarbazide-sensitive amine oxidase,
• Gene location: 17q21.31 (42844579: 42850706)     Exons: 4     NC_000017.11
• Gene summary(Entrez): Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mamm
• OMIM: 602268

SNPs

rs121918300

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37888306T>A
NC_000007.14   g.37888306T>C
NC_000007.13   g.37927908T>A
NC_000007.13   g.37927908T>C
NG_015893.1   g.44710T>A
NG_015893.1   g.44710T>C
NM_016616.4   c.1277T>A
NM_016616.4   c.1277T>C
NM_016616.5   c.1277T>A
NM_016616.5   c.1277T>C
NP_05770  

rs117149381

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37862001C>T
NC_000007.13   g.37901603C>T
NG_015893.1   g.18405C>T|SEQ=[C/T]|GENE=NME8

Protein Summary

• Protein general information: O75106  
  • Name: Retina specific copper amine oxidase (RAO) (EC 1.4.3.21) (Amine oxidase [copper containing]) (Semicarbazide sensitive amine oxidase) (SSAO)
  • Length: 756  
  • Mass: 83673
  • Tissue specificity: Expressed in many tissues with much higher expression in retina. Isoform 1 and isoform 2 are expressed in adipose tissue, whereas isoform 1 only seems to be present in thymus, and isoform 2 only in testis. {ECO
• Sequence:

  MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRAQPWPHPGQSQLFADLSREELTAVMRFLTQRL
  GPGLVDAAQAQPSDNCIFSVELQLPPKAAALAHLDRGSPPPAREALAIVLFGGQPQPNVSELVVGPLPHPSYMRD
  VTVERHGGPLPYHRRPVLRAEFTQMWRHLKEVELPKAPIFLSSTFNYNGSTLAAVHATPRGLRSGDRATWMALYH
  NISGVGLFLHPVGLELLLDHRALDPAHWTVQQVFYLGHYYADLGQLEREFKSGRLEVVRVPLPPPNGASSLRSRN
  SPGPLPPLQFSPQGSQYSVQGNLVVSSLWSFTFGHGVFSGLRIFDVRFQGERIAYEVSVQECVSIYGADSPKTML
  TRYLDSSFGLGRNSRGLVRGVDCPYQATMVDIHILVGKGAVQLLPGAVCVFEEAQGLPLRRHHNYLQNHFYGGLA
  SSALVVRSVSSVGNYDYIWDFVLYPNGALEGRVHATGYINTAFLKGGEEGLLFGNRVGERVLGTVHTHAFHFKLD
  LDVAGLKNWVVAEDVVFKPVAAPWNPEHWLQRPQLTRQVLGKEDLTAFSLGSPLPRYLYLASNQTNAWGHQRGYR
  IQIHSPLGIHIPLESDMERALSWGRYQLVVTQRKEEESQSSSIYHQNDIWTPTVTFADFINNETLLGEDLVAWVT
  ASFLHIPHAEDIPNTVTLGNRVGFLLRPYNFFDEDPSIFSPGSVYFEKGQDAGLCSINPVACLPDLAACVPDLPP
  FSYHGF

• Structural information:
  • Interpro: IPR032952  IPR000269  IPR015798  IPR036460  IPR016182   IPR015800  IPR015802  
  • Prosite: PS01164 PS01165
  • STRING: ENSP00000253799
• Other Databases: GeneCards:  AOC2  Malacards:  AOC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008131	primary amine oxidase activity	IBA	molecular function
GO:0005507	copper ion binding	IBA	molecular function
GO:0009308	amine metabolic process	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005507	copper ion binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0008131	primary amine oxidase activity	IEA	molecular function
GO:0048038	quinone binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009308	amine metabolic process	IEA	biological process
GO:0006584	catecholamine metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0052595	aliphatic-amine oxidase activity	IEA	molecular function
GO:0052593	tryptamine:oxygen oxidoreductase (deaminating) activity	IEA	molecular function
GO:0052596	phenethylamine:oxygen oxidoreductase (deaminating) activity	IEA	molecular function
GO:0008131	primary amine oxidase activity	IEA	molecular function
GO:0052594	aminoacetone:oxygen oxidoreductase(deaminating) activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0008131	primary amine oxidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism
hsa00410	beta-Alanine metabolism
hsa00260	Glycine, serine and threonine metabolism
hsa00360	Phenylalanine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray