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Gene: AOC2 (amine oxidase copper containing 2) Homo sapiens

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Symbol:

AOC2

Name:

amine oxidase copper containing 2

RGD ID:

1344698

HGNC Page

HGNC:549

Description:

Enables primary methylamine oxidase activity. Predicted to be involved in amine metabolic process. Located in cytoplasm. Is active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

amine oxidase [copper-containing] 2; amine oxidase, copper containing 2; amine oxidase, copper containing 2 (retina-specific); DAO2; RAO; retina-specific copper amine oxidase; semicarbazide-sensitive amine oxidase; SSAO

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	42,844,580 - 42,850,707 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	42,844,580 - 42,850,707 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	40,996,597 - 41,002,724 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	38,250,135 - 38,256,250 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	38,250,134 - 38,256,248	NCBI
Celera	17	37,652,664 - 37,658,779 (+)	NCBI		Celera
Cytogenetic Map	17	q21.31	NCBI
HuRef	17	36,761,247 - 36,767,364 (+)	NCBI		HuRef
CHM1_1	17	41,232,222 - 41,238,337 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	43,701,719 - 43,707,847 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (EXP)

silicosis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

3,3',4,4',5-pentachlorobiphenyl (EXP)

acrylamide (EXP)

ammonium chloride (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP)

DDE (EXP)

Dibutyl phosphate (EXP)

folic acid (ISO)

formaldehyde (EXP)

iron dichloride (EXP)

ozone (EXP)

perfluorohexanesulfonic acid (ISO)

perfluorooctanoic acid (EXP)

quercetin (EXP)

rac-lactic acid (EXP)

silicon dioxide (EXP)

sulforaphane (EXP)

thioacetamide (ISO)

triphenyl phosphate (EXP)

Triptolide (ISO)

triptonide (ISO)

tris(2-butoxyethyl) phosphate (EXP)

urethane (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amine metabolic process (IBA,IEA)

catecholamine metabolic process (IEA)

visual perception (TAS)

xenobiotic metabolic process (TAS)

Cellular Component

cytoplasm (IDA,IEA)

membrane (IEA)

plasma membrane (IBA,IDA,IEA,TAS)

Molecular Function

copper ion binding (IBA,IEA)

electron transfer activity (TAS)

metal ion binding (IEA)

oxidoreductase activity (IEA)

oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (IEA)

primary methylamine oxidase activity (IBA,IDA,IEA,TAS)

protein binding (IPI)

quinone binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

beta-alanine metabolic pathway (IEA)

glycine, serine and threonine metabolic pathway (IEA)

phenylalanine metabolic pathway (IEA)

tyrosine metabolic pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9119395	PMID:9722954	PMID:12477932	PMID:14585497	PMID:15146197	PMID:17286855	PMID:19588076	PMID:20013028	PMID:21873635	PMID:22658674	PMID:26760575	PMID:27766585
PMID:28514442	PMID:32296183	PMID:33961781	PMID:35748872

Genomics

Comparative Map Data

AOC2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	42,844,580 - 42,850,707 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	42,844,580 - 42,850,707 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	40,996,597 - 41,002,724 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	38,250,135 - 38,256,250 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	38,250,134 - 38,256,248	NCBI
Celera	17	37,652,664 - 37,658,779 (+)	NCBI		Celera
Cytogenetic Map	17	q21.31	NCBI
HuRef	17	36,761,247 - 36,767,364 (+)	NCBI		HuRef
CHM1_1	17	41,232,222 - 41,238,337 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	43,701,719 - 43,707,847 (+)	NCBI		T2T-CHM13v2.0

Aoc2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	101,214,467 - 101,220,633 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	101,215,889 - 101,220,528 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	101,323,640 - 101,329,807 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	101,325,063 - 101,329,702 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	101,186,377 - 101,191,013 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	101,141,153 - 101,145,789 (+)	NCBI		MGSCv36	mm8
MGSCv36	11	102,104,104 - 102,108,740 (+)	NCBI		MGSCv36	mm8
Cytogenetic Map	11	D	NCBI
cM Map	11	64.7	NCBI

Aoc2-ps1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	86,767,268 - 86,768,734 (+)	NCBI		GRCr8
mRatBN7.2	10	86,267,007 - 86,268,473 (+)	NCBI	mRatBN7.2	mRatBN7.2
UTH_Rnor_SHR_Utx	10	91,304,594 - 91,306,057 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	90,779,296 - 90,780,762 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	86,172,588 - 86,174,054 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	89,245,590 - 89,247,056 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	10	89,043,582 - 89,045,048 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	90,352,884 - 90,354,299 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	90,367,253 - 90,368,670 (+)	NCBI
Celera	10	84,985,141 - 84,986,607 (+)	NCBI		Celera
Cytogenetic Map	10	q31	NCBI

AOC2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	22,135,023 - 22,141,466 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	24,025,138 - 24,031,582 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	14,467,094 - 14,473,953 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	14,693,661 - 14,700,581 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	14,693,661 - 14,700,562 (-)	Ensembl	panpan1.1		panPan2

AOC2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	20,180,005 - 20,185,863 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	20,180,205 - 20,185,103 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	19,641,330 - 19,647,317 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	20,898,400 - 20,904,388 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	20,898,600 - 20,903,498 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	19,683,538 - 19,689,277 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	19,949,534 - 19,955,522 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	20,052,225 - 20,058,217 (-)	NCBI		UU_Cfam_GSD_1.0

AOC2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	20,022,003 - 20,028,317 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	20,021,987 - 20,027,967 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	20,236,608 - 20,242,625 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

AOC2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	63,442,888 - 63,449,693 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	63,443,247 - 63,449,079 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	34,233,095 - 34,240,130 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in AOC2
96 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	copy number gain	See cases [RCV000052479]	Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31	pathogenic
NM_001158.3(AOC2):c.1775C>T (p.Ala592Val)	single nucleotide variant	Malignant melanoma [RCV000071495]	Chr17:42849272 [GRCh38] Chr17:41001289 [GRCh37] Chr17:38254815 [NCBI36] Chr17:17q21.31	not provided
NM_001158.3(AOC2):c.1910C>T (p.Thr637Ile)	single nucleotide variant	Malignant melanoma [RCV000071496]	Chr17:42849717 [GRCh38] Chr17:41001734 [GRCh37] Chr17:38255260 [NCBI36] Chr17:17q21.31	not provided
NM_003734.3(AOC3):c.1463G>A (p.Arg488Gln)	single nucleotide variant	Malignant melanoma [RCV000063224]	Chr17:42852806 [GRCh38] Chr17:41004823 [GRCh37] Chr17:38258349 [NCBI36] Chr17:17q21.31	not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_009590.4(AOC2):c.1825A>C (p.Ile609Leu)	single nucleotide variant	not specified [RCV004307589]	Chr17:42849322 [GRCh38] Chr17:41001339 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.373C>G (p.Leu125Val)	single nucleotide variant	not specified [RCV004330832]	Chr17:42844999 [GRCh38] Chr17:40997016 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2263G>A (p.Gly755Ser)	single nucleotide variant	not specified [RCV004286372]	Chr17:42850340 [GRCh38] Chr17:41002357 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2101C>G (p.Leu701Val)	single nucleotide variant	not specified [RCV004287844]	Chr17:42850178 [GRCh38] Chr17:41002195 [GRCh37] Chr17:17q21.31	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_009590.4(AOC2):c.1445G>A (p.Arg482Gln)	single nucleotide variant	not specified [RCV004299647]	Chr17:42846071 [GRCh38] Chr17:40998088 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1791C>T (p.Arg597=)	single nucleotide variant	not provided [RCV000962594]	Chr17:42849288 [GRCh38] Chr17:41001305 [GRCh37] Chr17:17q21.31	benign
NM_009590.4(AOC2):c.147C>A (p.His49Gln)	single nucleotide variant	not specified [RCV004332134]	Chr17:42844773 [GRCh38] Chr17:40996790 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.422C>T (p.Pro141Leu)	single nucleotide variant	not provided [RCV000887238]	Chr17:42845048 [GRCh38] Chr17:40997065 [GRCh37] Chr17:17q21.31	benign
NM_009590.4(AOC2):c.891G>T (p.Arg297Ser)	single nucleotide variant	not specified [RCV004293135]	Chr17:42845517 [GRCh38] Chr17:40997534 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1337A>C (p.Tyr446Ser)	single nucleotide variant	not specified [RCV004310736]	Chr17:42845963 [GRCh38] Chr17:40997980 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1685G>A (p.Arg562Gln)	single nucleotide variant	not specified [RCV004290855]	Chr17:42849182 [GRCh38] Chr17:41001199 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1118C>T (p.Thr373Met)	single nucleotide variant	not specified [RCV004223858]	Chr17:42845744 [GRCh38] Chr17:40997761 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1040G>A (p.Arg347Gln)	single nucleotide variant	not specified [RCV004245787]	Chr17:42845666 [GRCh38] Chr17:40997683 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2195T>C (p.Ile732Thr)	single nucleotide variant	not specified [RCV004193852]	Chr17:42850272 [GRCh38] Chr17:41002289 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.205C>T (p.Arg69Cys)	single nucleotide variant	not specified [RCV004197136]	Chr17:42844831 [GRCh38] Chr17:40996848 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1181G>A (p.Arg394Gln)	single nucleotide variant	not specified [RCV004195494]	Chr17:42845807 [GRCh38] Chr17:40997824 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1774G>A (p.Ala592Thr)	single nucleotide variant	not specified [RCV004137751]	Chr17:42849271 [GRCh38] Chr17:41001288 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.592A>G (p.Asn198Asp)	single nucleotide variant	not specified [RCV004127671]	Chr17:42845218 [GRCh38] Chr17:40997235 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2237C>T (p.Pro746Leu)	single nucleotide variant	not specified [RCV004220009]	Chr17:42850314 [GRCh38] Chr17:41002331 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1760G>A (p.Ser587Asn)	single nucleotide variant	not specified [RCV004212764]	Chr17:42849257 [GRCh38] Chr17:41001274 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2097C>A (p.Phe699Leu)	single nucleotide variant	not specified [RCV004160022]	Chr17:42850174 [GRCh38] Chr17:41002191 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1811A>C (p.His604Pro)	single nucleotide variant	not specified [RCV004181498]	Chr17:42849308 [GRCh38] Chr17:41001325 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1731C>A (p.Ser577Arg)	single nucleotide variant	not specified [RCV004180207]	Chr17:42849228 [GRCh38] Chr17:41001245 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.168T>G (p.Phe56Leu)	single nucleotide variant	not specified [RCV004102638]	Chr17:42844794 [GRCh38] Chr17:40996811 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.772G>A (p.Val258Ile)	single nucleotide variant	not specified [RCV004236868]	Chr17:42845398 [GRCh38] Chr17:40997415 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1472C>T (p.Thr491Ile)	single nucleotide variant	not specified [RCV004169208]	Chr17:42846098 [GRCh38] Chr17:40998115 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.940G>T (p.Gly314Cys)	single nucleotide variant	not specified [RCV004154087]	Chr17:42845566 [GRCh38] Chr17:40997583 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1361T>C (p.Leu454Pro)	single nucleotide variant	not specified [RCV004069222]	Chr17:42845987 [GRCh38] Chr17:40998004 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.566T>G (p.Ile189Ser)	single nucleotide variant	not specified [RCV004116876]	Chr17:42845192 [GRCh38] Chr17:40997209 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.709G>A (p.Val237Met)	single nucleotide variant	not specified [RCV004224731]	Chr17:42845335 [GRCh38] Chr17:40997352 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.464G>A (p.Arg155His)	single nucleotide variant	not specified [RCV004175866]	Chr17:42845090 [GRCh38] Chr17:40997107 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1670G>A (p.Arg557His)	single nucleotide variant	not specified [RCV004240807]	Chr17:42849167 [GRCh38] Chr17:41001184 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.458T>G (p.Val153Gly)	single nucleotide variant	not specified [RCV004160452]	Chr17:42845084 [GRCh38] Chr17:40997101 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.817C>T (p.Arg273Trp)	single nucleotide variant	not specified [RCV004201788]	Chr17:42845443 [GRCh38] Chr17:40997460 [GRCh37] Chr17:17q21.31	likely benign
NM_009590.4(AOC2):c.769C>G (p.Gln257Glu)	single nucleotide variant	not specified [RCV004135665]	Chr17:42845395 [GRCh38] Chr17:40997412 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1847A>T (p.Asp616Val)	single nucleotide variant	not specified [RCV004168796]	Chr17:42849344 [GRCh38] Chr17:41001361 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1079A>G (p.Gln360Arg)	single nucleotide variant	not specified [RCV004121812]	Chr17:42845705 [GRCh38] Chr17:40997722 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1223A>G (p.His408Arg)	single nucleotide variant	not specified [RCV004155633]	Chr17:42845849 [GRCh38] Chr17:40997866 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.734A>G (p.His245Arg)	single nucleotide variant	not specified [RCV004086594]	Chr17:42845360 [GRCh38] Chr17:40997377 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1064A>G (p.Tyr355Cys)	single nucleotide variant	not specified [RCV004254874]	Chr17:42845690 [GRCh38] Chr17:40997707 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.23C>T (p.Ala8Val)	single nucleotide variant	not specified [RCV004273126]	Chr17:42844649 [GRCh38] Chr17:40996666 [GRCh37] Chr17:17q21.31	likely benign
NM_009590.4(AOC2):c.1184G>T (p.Gly395Val)	single nucleotide variant	not specified [RCV004257063]	Chr17:42845810 [GRCh38] Chr17:40997827 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1147T>C (p.Phe383Leu)	single nucleotide variant	not specified [RCV004259925]	Chr17:42845773 [GRCh38] Chr17:40997790 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.472G>A (p.Gly158Arg)	single nucleotide variant	not specified [RCV004327717]	Chr17:42845098 [GRCh38] Chr17:40997115 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.196G>A (p.Ala66Thr)	single nucleotide variant	not specified [RCV004269205]	Chr17:42844822 [GRCh38] Chr17:40996839 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.763G>C (p.Val255Leu)	single nucleotide variant	not specified [RCV004358264]	Chr17:42845389 [GRCh38] Chr17:40997406 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1308G>C (p.Arg436Ser)	single nucleotide variant	not specified [RCV004424713]	Chr17:42845934 [GRCh38] Chr17:40997951 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1349C>T (p.Ala450Val)	single nucleotide variant	not specified [RCV004424715]	Chr17:42845975 [GRCh38] Chr17:40997992 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1457C>T (p.Thr486Met)	single nucleotide variant	not specified [RCV004424716]	Chr17:42846083 [GRCh38] Chr17:40998100 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1790G>A (p.Arg597His)	single nucleotide variant	not specified [RCV004424720]	Chr17:42849287 [GRCh38] Chr17:41001304 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1999G>A (p.Gly667Arg)	single nucleotide variant	not specified [RCV004424722]	Chr17:42849725 [GRCh38] Chr17:41001742 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.663G>T (p.Met221Ile)	single nucleotide variant	not specified [RCV004424732]	Chr17:42845289 [GRCh38] Chr17:40997306 [GRCh37] Chr17:17q21.31	likely benign
NM_009590.4(AOC2):c.1337A>G (p.Tyr446Cys)	single nucleotide variant	not specified [RCV004424714]	Chr17:42845963 [GRCh38] Chr17:40997980 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.182G>A (p.Arg61Gln)	single nucleotide variant	not specified [RCV004424721]	Chr17:42844808 [GRCh38] Chr17:40996825 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2111A>G (p.Tyr704Cys)	single nucleotide variant	not specified [RCV004424726]	Chr17:42850188 [GRCh38] Chr17:41002205 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.448G>A (p.Asp150Asn)	single nucleotide variant	not specified [RCV004424728]	Chr17:42845074 [GRCh38] Chr17:40997091 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.646G>A (p.Asp216Asn)	single nucleotide variant	not specified [RCV004424730]	Chr17:42845272 [GRCh38] Chr17:40997289 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1093A>G (p.Ile365Val)	single nucleotide variant	not specified [RCV004424711]	Chr17:42845719 [GRCh38] Chr17:40997736 [GRCh37] Chr17:17q21.31	likely benign
NM_009590.4(AOC2):c.1541C>T (p.Thr514Met)	single nucleotide variant	not specified [RCV004424718]	Chr17:42846167 [GRCh38] Chr17:40998184 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2068A>G (p.Thr690Ala)	single nucleotide variant	not specified [RCV004424724]	Chr17:42850145 [GRCh38] Chr17:41002162 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1168C>G (p.Arg390Gly)	single nucleotide variant	not specified [RCV004424712]	Chr17:42845794 [GRCh38] Chr17:40997811 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1528A>G (p.Arg510Gly)	single nucleotide variant	not specified [RCV004424717]	Chr17:42846154 [GRCh38] Chr17:40998171 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.491G>A (p.Arg164His)	single nucleotide variant	not specified [RCV004424729]	Chr17:42845117 [GRCh38] Chr17:40997134 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1741C>T (p.Arg581Cys)	single nucleotide variant	not specified [RCV004424719]	Chr17:42849238 [GRCh38] Chr17:41001255 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2093G>C (p.Gly698Ala)	single nucleotide variant	not specified [RCV004424725]	Chr17:42850170 [GRCh38] Chr17:41002187 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2122G>A (p.Asp708Asn)	single nucleotide variant	not specified [RCV004424727]	Chr17:42850199 [GRCh38] Chr17:41002216 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.674A>G (p.His225Arg)	single nucleotide variant	not specified [RCV004424733]	Chr17:42845300 [GRCh38] Chr17:40997317 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.836G>A (p.Arg279Gln)	single nucleotide variant	not specified [RCV004424734]	Chr17:42845462 [GRCh38] Chr17:40997479 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1190A>G (p.Asp397Gly)	single nucleotide variant	not specified [RCV004647322]	Chr17:42845816 [GRCh38] Chr17:40997833 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1423C>G (p.Pro475Ala)	single nucleotide variant	not specified [RCV004647315]	Chr17:42846049 [GRCh38] Chr17:40998066 [GRCh37] Chr17:17q21.31	uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589)	copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419]	Chr17:41196270..41277589 [GRCh37] Chr17:17q12-22	pathogenic
NM_009590.4(AOC2):c.1448T>C (p.Val483Ala)	single nucleotide variant	not specified [RCV004834230]	Chr17:42846074 [GRCh38] Chr17:40998091 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.549G>T (p.Glu183Asp)	single nucleotide variant	not specified [RCV004834106]	Chr17:42845175 [GRCh38] Chr17:40997192 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.764T>G (p.Val255Gly)	single nucleotide variant	not specified [RCV004826306]	Chr17:42845390 [GRCh38] Chr17:40997407 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.352C>T (p.Arg118Trp)	single nucleotide variant	not specified [RCV004834098]	Chr17:42844978 [GRCh38] Chr17:40996995 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1799G>A (p.Arg600Gln)	single nucleotide variant	not specified [RCV004834144]	Chr17:42849296 [GRCh38] Chr17:41001313 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.113C>G (p.Pro38Arg)	single nucleotide variant	not specified [RCV004834164]	Chr17:42844739 [GRCh38] Chr17:40996756 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.310G>A (p.Ala104Thr)	single nucleotide variant	not specified [RCV004834126]	Chr17:42844936 [GRCh38] Chr17:40996953 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1931A>G (p.Tyr644Cys)	single nucleotide variant	not specified [RCV004834192]	Chr17:42849657 [GRCh38] Chr17:41001674 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1072A>G (p.Ser358Gly)	single nucleotide variant	not specified [RCV004834260]	Chr17:42845698 [GRCh38] Chr17:40997715 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.998T>C (p.Phe333Ser)	single nucleotide variant	not specified [RCV004834153]	Chr17:42845624 [GRCh38] Chr17:40997641 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2185C>T (p.Leu729Phe)	single nucleotide variant	not specified [RCV004834183]	Chr17:42850262 [GRCh38] Chr17:41002279 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.932C>T (p.Ser311Leu)	single nucleotide variant	not specified [RCV004834202]	Chr17:42845558 [GRCh38] Chr17:40997575 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1199A>G (p.Tyr400Cys)	single nucleotide variant	not specified [RCV004834213]	Chr17:42845825 [GRCh38] Chr17:40997842 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1612G>A (p.Glu538Lys)	single nucleotide variant	not specified [RCV004834222]	Chr17:42849109 [GRCh38] Chr17:41001126 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.2041A>G (p.Ile681Val)	single nucleotide variant	not specified [RCV004834238]	Chr17:42850118 [GRCh38] Chr17:41002135 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1939A>G (p.Asn647Asp)	single nucleotide variant	not specified [RCV004826289]	Chr17:42849665 [GRCh38] Chr17:41001682 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1225A>G (p.Ile409Val)	single nucleotide variant	not specified [RCV004834249]	Chr17:42845851 [GRCh38] Chr17:40997868 [GRCh37] Chr17:17q21.31	likely benign
NM_009590.4(AOC2):c.1562A>T (p.His521Leu)	single nucleotide variant	not specified [RCV004834271]	Chr17:42846188 [GRCh38] Chr17:40998205 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.463C>A (p.Arg155Ser)	single nucleotide variant	not specified [RCV004826279]	Chr17:42845089 [GRCh38] Chr17:40997106 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1556C>G (p.Ala519Gly)	single nucleotide variant	not specified [RCV004834172]	Chr17:42846182 [GRCh38] Chr17:40998199 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1877A>T (p.Tyr626Phe)	single nucleotide variant	not specified [RCV004826305]	Chr17:42849603 [GRCh38] Chr17:41001620 [GRCh37] Chr17:17q21.31	uncertain significance
NM_009590.4(AOC2):c.1742G>C (p.Arg581Pro)	single nucleotide variant	not specified [RCV004826300]	Chr17:42849239 [GRCh38] Chr17:41001256 [GRCh37] Chr17:17q21.31	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	319
Count of miRNA genes:	150
Interacting mature miRNAs:	153
Transcripts:	ENST00000253799, ENST00000452774
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597210396	GWAS1306470_H	protein measurement QTL GWAS1306470 (human)		2e-08	protein measurement		17	42844639	42844640	Human
597425950	GWAS1522024_H	urate measurement QTL GWAS1522024 (human)		6e-09	urate measurement	blood uric acid level (CMO:0000501)	17	42849261	42849262	Human
597210175	GWAS1306249_H	protein measurement QTL GWAS1306249 (human)		3e-08	protein measurement		17	42844639	42844640	Human

Markers in Region

RH16239

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	40,995,036 - 40,995,178	UniSTS	GRCh37
Build 36	17	38,248,562 - 38,248,704	RGD	NCBI36
Celera	17	37,651,091 - 37,651,233	RGD
Cytogenetic Map	17	q21	UniSTS
HuRef	17	36,759,674 - 36,759,816	UniSTS
GeneMap99-GB4 RH Map	17	317.07	UniSTS

RH47258

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	40,995,577 - 40,995,727	UniSTS	GRCh37
Build 36	17	38,249,103 - 38,249,253	RGD	NCBI36
Celera	17	37,651,632 - 37,651,782	RGD
Cytogenetic Map	17	q21	UniSTS
HuRef	17	36,760,215 - 36,760,365	UniSTS
GeneMap99-GB4 RH Map	17	307.99	UniSTS

STS-U11292

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	40,995,267 - 40,995,435	UniSTS	GRCh37
Build 36	17	38,248,793 - 38,248,961	RGD	NCBI36
Celera	17	37,651,322 - 37,651,490	RGD
Cytogenetic Map	17	q21	UniSTS
HuRef	17	36,759,905 - 36,760,073	UniSTS
GeneMap99-GB4 RH Map	17	311.36	UniSTS

RH68315

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	41,002,355 - 41,002,625	UniSTS	GRCh37
Build 36	17	38,255,881 - 38,256,151	RGD	NCBI36
Celera	17	37,658,410 - 37,658,680	RGD
Cytogenetic Map	17	q21	UniSTS
HuRef	17	36,766,995 - 36,767,265	UniSTS
GeneMap99-GB4 RH Map	17	308.5	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2432	2788	2247	4946	1723	2348	4	623	1943	464	2269	7278	6452	53	3710	1	848	1731	1614	171	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_009590	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB012943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC016889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF081363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC142641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA425343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA427935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN355968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D88213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ060035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ426861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000253799 ⟹ ENSP00000253799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	42,844,580 - 42,850,707 (+)	Ensembl

Ensembl Acc Id:

ENST00000452774 ⟹ ENSP00000406134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	42,844,601 - 42,850,704 (+)	Ensembl

RefSeq Acc Id:

NM_001158 ⟹ NP_001149

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	42,844,580 - 42,850,707 (+)	NCBI
GRCh37	17	40,996,609 - 41,002,724 (+)	RGD
Build 36	17	38,250,135 - 38,256,250 (+)	NCBI Archive
Celera	17	37,652,664 - 37,658,779 (+)	RGD
HuRef	17	36,761,247 - 36,767,364 (+)	ENTREZGENE
CHM1_1	17	41,232,222 - 41,238,337 (+)	NCBI
T2T-CHM13v2.0	17	43,701,719 - 43,707,847 (+)	NCBI

Sequence:

show sequence

GGAAGGAGCAGCTGTTAGAATTCTGATTTCAGCTCTCAGCATCCACCATGCATCTCAAGATAGT
CCTGGCGTTCCTGGCACTGTCCCTCATTACCATCTTTGCCCTGGCCTATGTTTTGCTGACCAGC
CCAGGTGGTTCCAGCCAGCCTCCCCACTGCCCCTCTGTATCCCATAGGGCCCAGCCCTGGCCAC
ACCCTGGCCAGAGCCAGCTGTTTGCAGACCTGAGCCGAGAGGAGTTGACAGCTGTGATGCGCTT
TCTGACCCAGCGGCTGGGGCCAGGGCTGGTGGACGCAGCCCAGGCTCAGCCCTCGGACAACTGC
ATCTTCTCAGTGGAGCTGCAGCTGCCCCCCAAGGCTGCAGCCCTGGCCCACCTGGACAGGGGGA
GCCCCCCACCTGCCCGGGAGGCACTGGCCATCGTCCTCTTTGGTGGACAACCCCAACCCAATGT
GAGTGAGCTGGTGGTGGGGCCGCTGCCTCACCCCTCGTACATGCGGGATGTGACTGTGGAGCGT
CACGGCGGGCCCCTGCCCTATCACCGTCGCCCGGTGCTGAGAGCTGAGTTTACACAGATGTGGA
GGCATCTGAAAGAGGTGGAGCTACCCAAGGCACCCATCTTCCTGTCGTCCACCTTCAACTACAA
TGGCTCTACCCTGGCAGCTGTGCATGCCACCCCTCGGGGCTTGCGCTCAGGGGACCGAGCTACC
TGGATGGCCCTCTACCATAACATCTCAGGGGTTGGTCTTTTCCTTCACCCCGTGGGGCTGGAGC
TACTACTGGACCACAGGGCCCTGGACCCTGCCCACTGGACTGTCCAGCAGGTCTTCTACCTTGG
GCACTACTATGCAGACTTGGGCCAGTTGGAACGGGAGTTTAAGTCTGGCCGGTTGGAAGTGGTT
AGAGTCCCTCTACCTCCACCAAATGGAGCTTCATCCCTGAGGTCTCGGAACTCTCCAGGTCCTC
TTCCCCCTCTTCAGTTCTCGCCCCAGGGTTCCCAGTACAGTGTGCAAGGAAACCTGGTGGTATC
CTCCCTCTGGTCATTTACCTTTGGCCATGGGGTGTTCAGCGGCCTGAGGATTTTTGATGTTCGG
TTCCAGGGTGAGCGAATAGCCTATGAAGTCAGTGTCCAGGAGTGTGTATCTATCTATGGTGCCG
ATTCACCCAAGACGATGCTGACTCGCTATTTGGATAGCAGCTTTGGACTCGGCCGTAACAGCCG
AGGCTTGGTGCGGGGAGTGGACTGCCCCTATCAAGCCACGATGGTGGACATCCATATATTAGTG
GGCAAAGGGGCAGTCCAGCTGCTTCCAGGGGCTGTGTGTGTATTTGAGGAAGCCCAGGGACTGC
CCCTTCGAAGGCACCACAATTACCTTCAAAATCATTTCTATGGTGGTTTGGCCAGCTCAGCCCT
TGTGGTCAGGTCTGTGTCATCTGTGGGCAACTATGACTACATTTGGGACTTTGTGTTGTACCCA
AATGGGGCACTTGAAGGGCGGGTCCATGCCACGGGTTATATCAACACAGCTTTCCTGAAAGGGG
GAGAGGAGGGCCTCCTCTTTGGGAACCGTGTGGGGGAAAGAGTGCTGGGAACGGTGCACACACA
TGCCTTCCACTTCAAGCTGGACCTGGATGTGGCAGGGCTGAAAAACTGGGTGGTAGCTGAAGAC
GTGGTGTTTAAACCTGTGGCTGCCCCCTGGAACCCGGAGCACTGGCTACAGCGCCCACAGCTGA
CTCGGCAGGTCCTGGGAAAGGAGGACCTGACAGCTTTTTCCTTGGGAAGCCCCCTACCCCGCTA
CCTCTACCTGGCTAGCAACCAGACTAATGCGTGGGGTCACCAGCGCGGATACCAGCTTGTGGTG
ACCCAGAGAAAGGAGGAGGAGTCACAGAGCAGTAGCATCTATCACCAGAATGACATCTGGACAC
CCACAGTTACCTTTGCTGACTTCATCAACAATGAAACCCTCTTAGGAGAGGATCTGGTGGCTTG
GGTCACAGCCAGCTTCCTGCACATTCCCCATGCCGAGGACATCCCAAACACAGTGACTCTGGGG
AACAGAGTTGGCTTCTTGCTCCGACCCTATAACTTCTTTGATGAGGACCCCTCCATCTTCTCCC
CTGGCAGTGTCTACTTTGAGAAGGGCCAGGATGCTGGGCTCTGCAGCATCAATCCTGTGGCCTG
CCTCCCCGACCTGGCAGCCTGTGTCCCGGACTTACCCCCTTTCTCTTACCACGGCTTCTAGTCC
TGAGGGTGTGGCGGGCGGCGTGGTTAGGCACATGTACTTTTCCCTGTTTCTACTTTCTATTCTC
CGTGTTTTTATCACACCTGCTCCCCAGATTCCCACCCCCTCAATGTTCCTCTCACACGAAACCC
CCATCAGTCCCTTTGGTTAATTCTTACTTCCTGTTCATCTCTAAAGTGTTAAATTATAAAAATG
ATTTTTAAATATTCAAAGAAAAATATCACAAATCCTACTACTCAGAAATAGGTGGTCACATTAC
ATCAGACATCTCTTTATGCATGTGCATTCAAAAGGAAGAGTAGATAGAATTTTGTAAAACAGAT
GTTGTATGTAATTTATAATAAAAAGTATTAGAGGAA

hide sequence

RefSeq Acc Id:

NM_009590 ⟹ NP_033720

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	42,844,580 - 42,850,707 (+)	NCBI
GRCh37	17	40,996,609 - 41,002,724 (+)	RGD
Build 36	17	38,250,135 - 38,256,250 (+)	NCBI Archive
Celera	17	37,652,664 - 37,658,779 (+)	RGD
HuRef	17	36,761,247 - 36,767,364 (+)	ENTREZGENE
CHM1_1	17	41,232,222 - 41,238,337 (+)	NCBI
T2T-CHM13v2.0	17	43,701,719 - 43,707,847 (+)	NCBI

Sequence:

show sequence

GGAAGGAGCAGCTGTTAGAATTCTGATTTCAGCTCTCAGCATCCACCATGCATCTCAAGATAGT
CCTGGCGTTCCTGGCACTGTCCCTCATTACCATCTTTGCCCTGGCCTATGTTTTGCTGACCAGC
CCAGGTGGTTCCAGCCAGCCTCCCCACTGCCCCTCTGTATCCCATAGGGCCCAGCCCTGGCCAC
ACCCTGGCCAGAGCCAGCTGTTTGCAGACCTGAGCCGAGAGGAGTTGACAGCTGTGATGCGCTT
TCTGACCCAGCGGCTGGGGCCAGGGCTGGTGGACGCAGCCCAGGCTCAGCCCTCGGACAACTGC
ATCTTCTCAGTGGAGCTGCAGCTGCCCCCCAAGGCTGCAGCCCTGGCCCACCTGGACAGGGGGA
GCCCCCCACCTGCCCGGGAGGCACTGGCCATCGTCCTCTTTGGTGGACAACCCCAACCCAATGT
GAGTGAGCTGGTGGTGGGGCCGCTGCCTCACCCCTCGTACATGCGGGATGTGACTGTGGAGCGT
CACGGCGGGCCCCTGCCCTATCACCGTCGCCCGGTGCTGAGAGCTGAGTTTACACAGATGTGGA
GGCATCTGAAAGAGGTGGAGCTACCCAAGGCACCCATCTTCCTGTCGTCCACCTTCAACTACAA
TGGCTCTACCCTGGCAGCTGTGCATGCCACCCCTCGGGGCTTGCGCTCAGGGGACCGAGCTACC
TGGATGGCCCTCTACCATAACATCTCAGGGGTTGGTCTTTTCCTTCACCCCGTGGGGCTGGAGC
TACTACTGGACCACAGGGCCCTGGACCCTGCCCACTGGACTGTCCAGCAGGTCTTCTACCTTGG
GCACTACTATGCAGACTTGGGCCAGTTGGAACGGGAGTTTAAGTCTGGCCGGTTGGAAGTGGTT
AGAGTCCCTCTACCTCCACCAAATGGAGCTTCATCCCTGAGGTCTCGGAACTCTCCAGGTCCTC
TTCCCCCTCTTCAGTTCTCGCCCCAGGGTTCCCAGTACAGTGTGCAAGGAAACCTGGTGGTATC
CTCCCTCTGGTCATTTACCTTTGGCCATGGGGTGTTCAGCGGCCTGAGGATTTTTGATGTTCGG
TTCCAGGGTGAGCGAATAGCCTATGAAGTCAGTGTCCAGGAGTGTGTATCTATCTATGGTGCCG
ATTCACCCAAGACGATGCTGACTCGCTATTTGGATAGCAGCTTTGGACTCGGCCGTAACAGCCG
AGGCTTGGTGCGGGGAGTGGACTGCCCCTATCAAGCCACGATGGTGGACATCCATATATTAGTG
GGCAAAGGGGCAGTCCAGCTGCTTCCAGGGGCTGTGTGTGTATTTGAGGAAGCCCAGGGACTGC
CCCTTCGAAGGCACCACAATTACCTTCAAAATCATTTCTATGGTGGTTTGGCCAGCTCAGCCCT
TGTGGTCAGGTCTGTGTCATCTGTGGGCAACTATGACTACATTTGGGACTTTGTGTTGTACCCA
AATGGGGCACTTGAAGGGCGGGTCCATGCCACGGGTTATATCAACACAGCTTTCCTGAAAGGGG
GAGAGGAGGGCCTCCTCTTTGGGAACCGTGTGGGGGAAAGAGTGCTGGGAACGGTGCACACACA
TGCCTTCCACTTCAAGCTGGACCTGGATGTGGCAGGGCTGAAAAACTGGGTGGTAGCTGAAGAC
GTGGTGTTTAAACCTGTGGCTGCCCCCTGGAACCCGGAGCACTGGCTACAGCGCCCACAGCTGA
CTCGGCAGGTCCTGGGAAAGGAGGACCTGACAGCTTTTTCCTTGGGAAGCCCCCTACCCCGCTA
CCTCTACCTGGCTAGCAACCAGACTAATGCGTGGGGTCACCAGCGCGGGTACCGAATCCAGATC
CACAGCCCCCTTGGCATACACATACCCCTGGAGAGTGACATGGAGAGGGCCCTCAGCTGGGGGA
GATACCAGCTTGTGGTGACCCAGAGAAAGGAGGAGGAGTCACAGAGCAGTAGCATCTATCACCA
GAATGACATCTGGACACCCACAGTTACCTTTGCTGACTTCATCAACAATGAAACCCTCTTAGGA
GAGGATCTGGTGGCTTGGGTCACAGCCAGCTTCCTGCACATTCCCCATGCCGAGGACATCCCAA
ACACAGTGACTCTGGGGAACAGAGTTGGCTTCTTGCTCCGACCCTATAACTTCTTTGATGAGGA
CCCCTCCATCTTCTCCCCTGGCAGTGTCTACTTTGAGAAGGGCCAGGATGCTGGGCTCTGCAGC
ATCAATCCTGTGGCCTGCCTCCCCGACCTGGCAGCCTGTGTCCCGGACTTACCCCCTTTCTCTT
ACCACGGCTTCTAGTCCTGAGGGTGTGGCGGGCGGCGTGGTTAGGCACATGTACTTTTCCCTGT
TTCTACTTTCTATTCTCCGTGTTTTTATCACACCTGCTCCCCAGATTCCCACCCCCTCAATGTT
CCTCTCACACGAAACCCCCATCAGTCCCTTTGGTTAATTCTTACTTCCTGTTCATCTCTAAAGT
GTTAAATTATAAAAATGATTTTTAAATATTCAAAGAAAAATATCACAAATCCTACTACTCAGAA
ATAGGTGGTCACATTACATCAGACATCTCTTTATGCATGTGCATTCAAAAGGAAGAGTAGATAG
AATTTTGTAAAACAGATGTTGTATGTAATTTATAATAAAAAGTATTAGAGGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001149	(Get FASTA)	NCBI Sequence Viewer
	NP_033720	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD39345	(Get FASTA)	NCBI Sequence Viewer
	AAI42642	(Get FASTA)	NCBI Sequence Viewer
	AAY43129	(Get FASTA)	NCBI Sequence Viewer
	ABD90530	(Get FASTA)	NCBI Sequence Viewer
	BAA19001	(Get FASTA)	NCBI Sequence Viewer
	BAA32589	(Get FASTA)	NCBI Sequence Viewer
	BAA32590	(Get FASTA)	NCBI Sequence Viewer
	EAW60895	(Get FASTA)	NCBI Sequence Viewer
	EAW60896	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000253799
	ENSP00000253799.2
	ENSP00000406134
	ENSP00000406134.1
GenBank Protein	O75106	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001149 ⟸ NM_001158
- Peptide Label:	isoform a
- UniProtKB:	O75106 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRAQPWPHPGQSQLFADLSREEL TAVMRFLTQRLGPGLVDAAQAQPSDNCIFSVELQLPPKAAALAHLDRGSPPPAREALAIVLFGG QPQPNVSELVVGPLPHPSYMRDVTVERHGGPLPYHRRPVLRAEFTQMWRHLKEVELPKAPIFLS STFNYNGSTLAAVHATPRGLRSGDRATWMALYHNISGVGLFLHPVGLELLLDHRALDPAHWTVQ QVFYLGHYYADLGQLEREFKSGRLEVVRVPLPPPNGASSLRSRNSPGPLPPLQFSPQGSQYSVQ GNLVVSSLWSFTFGHGVFSGLRIFDVRFQGERIAYEVSVQECVSIYGADSPKTMLTRYLDSSFG LGRNSRGLVRGVDCPYQATMVDIHILVGKGAVQLLPGAVCVFEEAQGLPLRRHHNYLQNHFYGG LASSALVVRSVSSVGNYDYIWDFVLYPNGALEGRVHATGYINTAFLKGGEEGLLFGNRVGERVL GTVHTHAFHFKLDLDVAGLKNWVVAEDVVFKPVAAPWNPEHWLQRPQLTRQVLGKEDLTAFSLG SPLPRYLYLASNQTNAWGHQRGYQLVVTQRKEEESQSSSIYHQNDIWTPTVTFADFINNETLLG EDLVAWVTASFLHIPHAEDIPNTVTLGNRVGFLLRPYNFFDEDPSIFSPGSVYFEKGQDAGLCS INPVACLPDLAACVPDLPPFSYHGF hide sequence

RefSeq Acc Id:	NP_033720 ⟸ NM_009590
- Peptide Label:	isoform b
- UniProtKB:	O00120 (UniProtKB/Swiss-Prot), A5PKW2 (UniProtKB/Swiss-Prot), Q4TTW5 (UniProtKB/Swiss-Prot), O75105 (UniProtKB/Swiss-Prot), Q9UNY0 (UniProtKB/Swiss-Prot), O75106 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRAQPWPHPGQSQLFADLSREEL TAVMRFLTQRLGPGLVDAAQAQPSDNCIFSVELQLPPKAAALAHLDRGSPPPAREALAIVLFGG QPQPNVSELVVGPLPHPSYMRDVTVERHGGPLPYHRRPVLRAEFTQMWRHLKEVELPKAPIFLS STFNYNGSTLAAVHATPRGLRSGDRATWMALYHNISGVGLFLHPVGLELLLDHRALDPAHWTVQ QVFYLGHYYADLGQLEREFKSGRLEVVRVPLPPPNGASSLRSRNSPGPLPPLQFSPQGSQYSVQ GNLVVSSLWSFTFGHGVFSGLRIFDVRFQGERIAYEVSVQECVSIYGADSPKTMLTRYLDSSFG LGRNSRGLVRGVDCPYQATMVDIHILVGKGAVQLLPGAVCVFEEAQGLPLRRHHNYLQNHFYGG LASSALVVRSVSSVGNYDYIWDFVLYPNGALEGRVHATGYINTAFLKGGEEGLLFGNRVGERVL GTVHTHAFHFKLDLDVAGLKNWVVAEDVVFKPVAAPWNPEHWLQRPQLTRQVLGKEDLTAFSLG SPLPRYLYLASNQTNAWGHQRGYRIQIHSPLGIHIPLESDMERALSWGRYQLVVTQRKEEESQS SSIYHQNDIWTPTVTFADFINNETLLGEDLVAWVTASFLHIPHAEDIPNTVTLGNRVGFLLRPY NFFDEDPSIFSPGSVYFEKGQDAGLCSINPVACLPDLAACVPDLPPFSYHGF hide sequence

Ensembl Acc Id:

ENSP00000253799 ⟸ ENST00000253799

Ensembl Acc Id:

ENSP00000406134 ⟸ ENST00000452774

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75106-F1-model_v2	AlphaFold	O75106	1-756	view protein structure

Promoters

RGD ID:

6793740

Promoter ID:

HG_KWN:26226

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Lymphoblastoid, NB4

Transcripts:

NM_001158, NM_009590

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	38,249,401 - 38,251,752 (+)	MPROMDB

RGD ID:

7235143

Promoter ID:

EPDNEW_H23318

Type:

multiple initiation site

Name:

AOC2_1

Description:

amine oxidase, copper containing 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	42,844,580 - 42,844,640	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:549	AgrOrtholog
COSMIC	AOC2	COSMIC
Ensembl Genes	ENSG00000131480	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000253799	ENTREZGENE
	ENST00000253799.8	UniProtKB/Swiss-Prot
	ENST00000452774	ENTREZGENE
	ENST00000452774.2	UniProtKB/Swiss-Prot
Gene3D-CATH	2.70.98.20	UniProtKB/Swiss-Prot
	3.10.450.40	UniProtKB/Swiss-Prot
GTEx	ENSG00000131480	GTEx
HGNC ID	HGNC:549	ENTREZGENE
Human Proteome Map	AOC2	Human Proteome Map
InterPro	Cu_Am_Ox_Cu-bd	UniProtKB/Swiss-Prot
	Cu_Am_ox_TPQ-bd	UniProtKB/Swiss-Prot
	Cu_amine_oxidase	UniProtKB/Swiss-Prot
	Cu_amine_oxidase_C	UniProtKB/Swiss-Prot
	Cu_amine_oxidase_C_sf	UniProtKB/Swiss-Prot
	Cu_amine_oxidase_N-reg	UniProtKB/Swiss-Prot
	Cu_amine_oxidase_N2	UniProtKB/Swiss-Prot
	Cu_amine_oxidase_N3	UniProtKB/Swiss-Prot
KEGG Report	hsa:314	UniProtKB/Swiss-Prot
NCBI Gene	314	ENTREZGENE
OMIM	602268	OMIM
PANTHER	PTHR10638	UniProtKB/Swiss-Prot
	PTHR10638:SF4	UniProtKB/Swiss-Prot
Pfam	Cu_amine_oxid	UniProtKB/Swiss-Prot
	Cu_amine_oxidN2	UniProtKB/Swiss-Prot
	Cu_amine_oxidN3	UniProtKB/Swiss-Prot
PharmGKB	PA24839	PharmGKB
PRINTS	CUDAOXIDASE	UniProtKB/Swiss-Prot
PROSITE	COPPER_AMINE_OXID_1	UniProtKB/Swiss-Prot
	COPPER_AMINE_OXID_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF49998	UniProtKB/Swiss-Prot
	SSF54416	UniProtKB/Swiss-Prot
UniProt	A5PKW2	ENTREZGENE
	AOC2_HUMAN	UniProtKB/Swiss-Prot
	O00120	ENTREZGENE
	O75105	ENTREZGENE
	O75106	ENTREZGENE
	Q4TTW5	ENTREZGENE
	Q9UNY0	ENTREZGENE
UniProt Secondary	A5PKW2	UniProtKB/Swiss-Prot
	O00120	UniProtKB/Swiss-Prot
	O75105	UniProtKB/Swiss-Prot
	Q4TTW5	UniProtKB/Swiss-Prot
	Q9UNY0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-22	AOC2	amine oxidase copper containing 2	AOC2	amine oxidase, copper containing 2	Symbol and/or name change	5135510	APPROVED
2015-12-22	AOC2	amine oxidase, copper containing 2	AOC2	amine oxidase, copper containing 2 (retina-specific)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)