Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	175
Gene name	Aspartylglucosaminidase
Gene symbol	AGA
Synonyms (NCBI Gene)	AGUASRGGA
Chromosome	4
Chromosome location	4q34.3
Summary	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolis

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121964904	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964905	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964906	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964908	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964909	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs145465919	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146381591	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs386833419	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833420	TCTC>-,TC	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833421	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833422	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833423	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833424	TGTGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833425	GTGT>-,GT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833426	T>C	Likely-pathogenic	Intron variant
rs386833427	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833428	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833430	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833431	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant, splice donor variant
rs386833432	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833433	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833434	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833435	A>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833436	->A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833437	C>A,T	Likely-pathogenic	Splice donor variant
rs745976989	C>T	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs748171793	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs765070743	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs794728009	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs986682657	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517175	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, intron variant
rs1057517223	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517329	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1201784742	A>C,G	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs1483909684	T>A,C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553993921	T>C	Likely-pathogenic	Splice acceptor variant
rs1553994755	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553994812	C>A	Likely-pathogenic	Splice donor variant
rs1553994830	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1560950739	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021212	hsa-miR-150-5p	Microarray	20218812
MIRT771553	hsa-miR-106a	CLIP-seq
MIRT771554	hsa-miR-106b	CLIP-seq
MIRT771555	hsa-miR-17	CLIP-seq
MIRT771556	hsa-miR-20a	CLIP-seq
MIRT771557	hsa-miR-20b	CLIP-seq
MIRT771558	hsa-miR-421	CLIP-seq
MIRT771559	hsa-miR-4272	CLIP-seq
MIRT771560	hsa-miR-4803	CLIP-seq
MIRT771561	hsa-miR-513a-3p	CLIP-seq
MIRT771562	hsa-miR-519d	CLIP-seq
MIRT771563	hsa-miR-93	CLIP-seq
MIRT2168469	hsa-miR-101	CLIP-seq
MIRT2168470	hsa-miR-1267	CLIP-seq
MIRT2168471	hsa-miR-1273d	CLIP-seq
MIRT2168472	hsa-miR-144	CLIP-seq
MIRT2168473	hsa-miR-2355-5p	CLIP-seq
MIRT2168474	hsa-miR-3691-3p	CLIP-seq
MIRT2168475	hsa-miR-383	CLIP-seq
MIRT2168476	hsa-miR-4282	CLIP-seq
MIRT2168477	hsa-miR-4477a	CLIP-seq
MIRT2168478	hsa-miR-4729	CLIP-seq
MIRT2168479	hsa-miR-4772-5p	CLIP-seq
MIRT2168480	hsa-miR-495	CLIP-seq
MIRT2168481	hsa-miR-582-5p	CLIP-seq
MIRT2168482	hsa-miR-597	CLIP-seq
MIRT2168483	hsa-miR-660	CLIP-seq
MIRT2168484	hsa-miR-668	CLIP-seq
MIRT2168485	hsa-miR-943	CLIP-seq
MIRT2471055	hsa-miR-1272	CLIP-seq
MIRT2471056	hsa-miR-1322	CLIP-seq
MIRT2471057	hsa-miR-193a-5p	CLIP-seq
MIRT2471058	hsa-miR-3672	CLIP-seq
MIRT2471059	hsa-miR-4468	CLIP-seq
MIRT2471060	hsa-miR-4503	CLIP-seq
MIRT2471061	hsa-miR-4517	CLIP-seq
MIRT2471062	hsa-miR-4522	CLIP-seq
MIRT2471063	hsa-miR-4693-3p	CLIP-seq
MIRT2471064	hsa-miR-4712-3p	CLIP-seq
MIRT2471065	hsa-miR-548ae	CLIP-seq
MIRT2471066	hsa-miR-548aj	CLIP-seq
MIRT2471067	hsa-miR-548am	CLIP-seq
MIRT2471068	hsa-miR-548x	CLIP-seq
MIRT2471069	hsa-miR-568	CLIP-seq
MIRT2471070	hsa-miR-643	CLIP-seq
MIRT2471071	hsa-miR-9	CLIP-seq
MIRT2471057	hsa-miR-193a-5p	CLIP-seq
MIRT2471058	hsa-miR-3672	CLIP-seq
MIRT2471062	hsa-miR-4522	CLIP-seq
MIRT2471071	hsa-miR-9	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IBA
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA	1281977
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IEA
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IMP	1904874
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005737	Component	Cytoplasm	IBA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	8776587
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	8776587
GO:0006508	Process	Proteolysis	IEA
GO:0006517	Process	Protein deglycosylation	IDA	1281977
GO:0006517	Process	Protein deglycosylation	IMP	1904874
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS

MIM	HGNC	e!Ensembl
613228	318	ENSG00000038002

P20933

Protein name

N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase (EC 3.5.1.26) (Aspartylglucosaminidase) (Glycosylasparaginase) (N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase) [Cleaved into: Glycosylasparaginase alpha chain; Glycosylasparaginase beta chain]

Protein function

Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.

PDB

1APY , 1APZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01112	Asparaginase_2	31 → 336	Asparaginase	Domain

Sequence

MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESG
CAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLE
HTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCG
PYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGIKFKIHGRVGDSPI
PGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEF
FGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

Sequence length

346

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Lysosome		Neutrophil degranulation

539

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aspartylglucosaminuria	Pathogenic; Likely pathogenic	rs2111013273, rs370078048, rs991950983, rs2111022003, rs1560950756, rs2111021475, rs2111015936, rs2111013260, rs2111015862, rs2111021738, rs121964904, rs121964905, rs121964906, rs121964907, rs121964908 View all (71 more)	RCV001389042 RCV001382137 RCV001384971 RCV001383515 RCV001829272 RCV001878335 RCV001992826 RCV002042973 RCV001958653 RCV002044945 RCV000410114 RCV000000244 RCV000000245 RCV000000246 RCV000000247 RCV000000248 RCV000000249 RCV000000250 RCV000000251 RCV000000252 RCV000000253 RCV002569448 RCV002756325 RCV002829043 RCV002894261 RCV003029374 RCV003042060 RCV003123357 RCV003153100 RCV003230816 RCV003236531 RCV000984239 RCV003468399 RCV003468406 RCV003468410 RCV003468413 RCV003468417 RCV003468420 RCV003475703 RCV003475707 RCV003468432 RCV003468446 RCV003468451 RCV003468463 RCV003494908 RCV003598327 RCV003599812 RCV003597634 RCV004575567 RCV004575570 RCV004575600 RCV004575603 RCV004575607 RCV004575615 RCV000409628 RCV000410452 RCV000410299 RCV000409315 RCV000410049 RCV000409941 RCV000409106 RCV000411313 RCV000411846 RCV000984240 RCV000587664 RCV000665484 RCV000668122 RCV000666296 RCV000667648 RCV000668322 RCV000671008 RCV000673721 RCV000665880 RCV000664664 RCV000672589 RCV000721973 RCV000761415 RCV000794202 RCV000049347 RCV000049348 RCV000049349 RCV000049350 RCV000049351 RCV000049352 RCV000049353 RCV000049354 RCV000049355 RCV000049357 RCV000049358 RCV000049359 RCV000049360 RCV000049363 RCV001057308 RCV001036199 RCV001036043 RCV001060563 RCV001229528 RCV003469496
Aspartylglucosaminuria, finnish type	Pathogenic	rs121964904	RCV000000243
Autism	Likely pathogenic; Pathogenic	rs121964908	RCV004698463
Sarcoma	Likely pathogenic	rs1553993921	RCV005901461

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AGA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs146683705, rs201125635, rs2476862353, rs76491548, rs34413111	RCV003956014 RCV003902343 RCV003901819 RCV003918013 RCV003905791
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs114918706	RCV005897792
Familial cancer of breast	Benign	rs1061814, rs4690385	RCV005897791 RCV005905839
Gastric cancer	Conflicting classifications of pathogenicity	rs114918706	RCV005897795
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs114918706, rs34241758	RCV005897793 RCV005886131
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs146381591, rs200420067, rs149092606, rs1736643790	RCV001251883 RCV001251880 RCV001251881 RCV001251882
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs34241758	RCV005886132
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs114918706	RCV005897794
Neurodevelopmental disorder	Uncertain significance	rs200420067	RCV002279539
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs114918706	RCV005897796
Uterine corpus endometrial carcinoma	Benign	rs745896951	RCV005870031

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aspartylglucosaminuria	Associate	11418116, 1477657, 1530592, 1577713, 1722323, 1840528, 1879549, 25456816, 27876883, 28457719, 29247835, 29993127, 30901125, 34831035, 36982794, 7852406, 8064811, 8457202, 9685368 View all (4 more)
Aspartylglucosaminuria	Inhibit	1722323, 28346360
Breast Neoplasms	Associate	34006291
Colorectal Neoplasms	Associate	36344807
Disease	Associate	10931138
Fabry Disease	Associate	20526001, 27471012
Genetic Diseases Inborn	Associate	30901125
Intellectual Disability	Associate	28346360
Lupus Nephritis	Associate	26509176
Lysosomal Storage Diseases	Associate	1840528
Neoplasms	Associate	34006291
Schizophrenia	Associate	16604350, 30685393

AGA (aspartylglucosaminidase)