AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase)

Gene

• Entrez ID: 178
• Gene name: Amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
• Gene symbol: AGL
• Synonyms (NCBI Gene): GDE
• Chromosome: 1
• Chromosome location: 1p21.2
• Summary: This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12118058	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61811105	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs113994126	C>T	Likely-pathogenic, pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs113994127	GA>-	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs113994128	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs113994129	G>A	Pathogenic	Stop gained, coding sequence variant
rs113994130	C>T	Pathogenic	Stop gained, coding sequence variant
rs113994131	C>A,T	Likely-pathogenic, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs113994132	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs113994134	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs118203964	G>C	Pathogenic	Missense variant, coding sequence variant
rs140095668	C>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs141043166	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs141944878	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs143815159	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146041189	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147024351	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs149210307	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150441555	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs193186112	C>T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs199922945	G>T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs201201443	G>A,T	Pathogenic	Splice donor variant
rs267606639	A>G	Pathogenic	Missense variant, coding sequence variant
rs267606640	G>A	Pathogenic	Coding sequence variant, stop gained
rs369973784	A>G	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs370202718	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs370792293	A>G	Pathogenic, likely-pathogenic	Intron variant, genic upstream transcript variant
rs387906244	->A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs387906246	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs531425980	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs745757264	A>-,AA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs747485058	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748789700	CAGA>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs750492389	T>A,C	Likely-pathogenic	Splice donor variant
rs751112302	G>A,C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs751952198	G>C,T	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs755747010	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs756175624	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs757967016	G>C,T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs757987101	C>A,T	Pathogenic	Genic upstream transcript variant, synonymous variant, coding sequence variant, stop gained
rs758265909	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs760589837	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs764318570	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs764591009	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs765098686	A>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs765367405	C>T	Pathogenic	Stop gained, coding sequence variant
rs766536350	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, missense variant
rs767346840	GA>-	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs770438130	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs771069887	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs771853367	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs771961377	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, missense variant, coding sequence variant
rs773095419	C>T	Pathogenic	Stop gained, coding sequence variant
rs774926455	C>G	Pathogenic	Coding sequence variant, stop gained
rs775498547	C>A,G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs775685508	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs776733170	->A	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs776977863	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs777857395	G>-	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, coding sequence variant
rs780504025	G>A	Pathogenic, likely-pathogenic	Intron variant
rs780883601	G>A	Pathogenic	Splice donor variant
rs781580050	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs786204481	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs786204489	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs786204490	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs786204595	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs786204616	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs786204655	A>-,AA	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs786204678	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs794727051	T>-	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs794727706	TTAG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs794729208	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs794729209	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs867341758	AG>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs878959417	A>G	Likely-pathogenic	Splice acceptor variant
rs886039883	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs886042008	CATC>T	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs886043990	G>A,T	Pathogenic	Splice acceptor variant
rs930434905	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057516254	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516306	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516308	TGCTGATAATCATGTGCTACCCTTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516397	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516471	->T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057516513	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516563	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516567	T>G	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057516570	CT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516666	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516708	T>C	Likely-pathogenic	Splice donor variant
rs1057516741	ACTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516793	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516868	A>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1057516870	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1057516913	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516948	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057516952	T>C	Likely-pathogenic	Splice donor variant
rs1057516984	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516994	A>-,AAA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1057517017	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517057	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1057517079	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517136	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517243	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057517344	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057517347	->A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057517405	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517425	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795630	TTCTAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064795728	ACTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691438	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs1185321132	A>C,G	Likely-pathogenic	Splice acceptor variant
rs1188310172	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1206517501	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1215043175	C>-	Pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1239498701	C>G	Pathogenic	Coding sequence variant, stop gained
rs1289339080	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1293077915	CC>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1327892944	G>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1354714214	G>A,C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1432024176	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1443902661	->G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1480850606	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1553181400	G>C	Likely-pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs1553183148	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs1553183178	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553183220	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553183359	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553184620	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553184657	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1553185302	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553185403	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553185418	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553185474	TGGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553185883	CACTGAAATA>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553185905	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1553186489	G>A	Likely-pathogenic	Intron variant
rs1553186577	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553186613	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553187237	ACAA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1553187957	AGATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553188559	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553188832	TA>-,TATA	Pathogenic	Frameshift variant, coding sequence variant, inframe indel, stop gained
rs1553188849	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553189468	G>A	Likely-pathogenic	Splice donor variant
rs1553190316	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553190751	AGATAGATCGAAACATGAAGGAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553192718	AAAGACATGGTAAGCTGGTTA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553193463	G>A	Pathogenic	Splice donor variant
rs1553193486	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553193529	G>C	Likely-pathogenic	Splice donor variant
rs1553193530	T>G	Likely-pathogenic	Splice donor variant
rs1557749651	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1557794150	->AATTA	Pathogenic	Coding sequence variant, frameshift variant
rs1570433472	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1570433686	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1570438459	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1570442236	A>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1570445130	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570487381	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570508240	G>A	Pathogenic	Splice acceptor variant
rs1571232214	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1571232325	T>G	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1571232404	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1571243699	AATT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1571243862	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020541	hsa-miR-155-5p	Proteomics	18668040
MIRT024894	hsa-miR-215-5p	Microarray	19074876
MIRT026198	hsa-miR-192-5p	Microarray	19074876
MIRT028934	hsa-miR-26b-5p	Microarray	19088304
MIRT032209	hsa-let-7b-5p	Proteomics	18668040
MIRT045794	hsa-miR-191-5p	CLASH	23622248
MIRT041710	hsa-miR-484	CLASH	23622248
MIRT037850	hsa-miR-455-3p	CLASH	23622248
MIRT441248	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT441248	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT772077	hsa-miR-2053	CLIP-seq
MIRT772078	hsa-miR-3159	CLIP-seq
MIRT772079	hsa-miR-3674	CLIP-seq
MIRT772080	hsa-miR-4452	CLIP-seq
MIRT772081	hsa-miR-4680-3p	CLIP-seq
MIRT772082	hsa-miR-4724-5p	CLIP-seq
MIRT772083	hsa-miR-4760-3p	CLIP-seq
MIRT772084	hsa-miR-513a-3p	CLIP-seq
MIRT1927863	hsa-miR-4652-3p	CLIP-seq
MIRT2168705	hsa-miR-1179	CLIP-seq
MIRT2168706	hsa-miR-1244	CLIP-seq
MIRT2168707	hsa-miR-199a-3p	CLIP-seq
MIRT2168708	hsa-miR-199b-3p	CLIP-seq
MIRT2168709	hsa-miR-3074-3p	CLIP-seq
MIRT2168710	hsa-miR-3129-5p	CLIP-seq
MIRT2168711	hsa-miR-3185	CLIP-seq
MIRT2168712	hsa-miR-361-5p	CLIP-seq
MIRT2168713	hsa-miR-3617	CLIP-seq
MIRT2168714	hsa-miR-3974	CLIP-seq
MIRT2168715	hsa-miR-4301	CLIP-seq
MIRT2168716	hsa-miR-4305	CLIP-seq
MIRT2168717	hsa-miR-4709-3p	CLIP-seq
MIRT2168718	hsa-miR-641	CLIP-seq
MIRT1927863	hsa-miR-4652-3p	CLIP-seq
MIRT2471221	hsa-miR-1248	CLIP-seq
MIRT2471222	hsa-miR-129-5p	CLIP-seq
MIRT2471223	hsa-miR-3125	CLIP-seq
MIRT2471224	hsa-miR-3143	CLIP-seq
MIRT772078	hsa-miR-3159	CLIP-seq
MIRT772079	hsa-miR-3674	CLIP-seq
MIRT2471225	hsa-miR-3686	CLIP-seq
MIRT2471226	hsa-miR-3913-3p	CLIP-seq
MIRT2471227	hsa-miR-3916	CLIP-seq
MIRT2471228	hsa-miR-3978	CLIP-seq
MIRT2471229	hsa-miR-409-3p	CLIP-seq
MIRT2471230	hsa-miR-4261	CLIP-seq
MIRT2471231	hsa-miR-4297	CLIP-seq
MIRT2471232	hsa-miR-4659a-3p	CLIP-seq
MIRT2471233	hsa-miR-4659b-3p	CLIP-seq
MIRT2471234	hsa-miR-4729	CLIP-seq
MIRT2471235	hsa-miR-4735-5p	CLIP-seq
MIRT2471236	hsa-miR-4742-3p	CLIP-seq
MIRT2471237	hsa-miR-4775	CLIP-seq
MIRT2471238	hsa-miR-4778-3p	CLIP-seq
MIRT2471239	hsa-miR-4778-5p	CLIP-seq
MIRT2471240	hsa-miR-489	CLIP-seq
MIRT2471241	hsa-miR-498	CLIP-seq
MIRT772084	hsa-miR-513a-3p	CLIP-seq
MIRT2471242	hsa-miR-514	CLIP-seq
MIRT2471243	hsa-miR-514b-3p	CLIP-seq
MIRT2471244	hsa-miR-532-5p	CLIP-seq
MIRT2471245	hsa-miR-548c-3p	CLIP-seq
MIRT2471246	hsa-miR-606	CLIP-seq
MIRT2471247	hsa-miR-877	CLIP-seq
MIRT2471221	hsa-miR-1248	CLIP-seq
MIRT2471223	hsa-miR-3125	CLIP-seq
MIRT2471224	hsa-miR-3143	CLIP-seq
MIRT772078	hsa-miR-3159	CLIP-seq
MIRT772079	hsa-miR-3674	CLIP-seq
MIRT2471225	hsa-miR-3686	CLIP-seq
MIRT2471227	hsa-miR-3916	CLIP-seq
MIRT2471228	hsa-miR-3978	CLIP-seq
MIRT2471229	hsa-miR-409-3p	CLIP-seq
MIRT2471230	hsa-miR-4261	CLIP-seq
MIRT2471231	hsa-miR-4297	CLIP-seq
MIRT2471234	hsa-miR-4729	CLIP-seq
MIRT2471235	hsa-miR-4735-5p	CLIP-seq
MIRT2471236	hsa-miR-4742-3p	CLIP-seq
MIRT2471239	hsa-miR-4778-5p	CLIP-seq
MIRT772084	hsa-miR-513a-3p	CLIP-seq
MIRT2471244	hsa-miR-532-5p	CLIP-seq
MIRT2674714	hsa-miR-548a-3p	CLIP-seq
MIRT2471245	hsa-miR-548c-3p	CLIP-seq
MIRT2674715	hsa-miR-548e	CLIP-seq
MIRT2674716	hsa-miR-548f	CLIP-seq
MIRT2471246	hsa-miR-606	CLIP-seq
MIRT2471247	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004134	Function	4-alpha-glucanotransferase activity	EXP	2961257
GO:0004134	Function	4-alpha-glucanotransferase activity	IBA
GO:0004134	Function	4-alpha-glucanotransferase activity	IEA
GO:0004135	Function	Amylo-alpha-1,6-glucosidase activity	EXP	2961257
GO:0004135	Function	Amylo-alpha-1,6-glucosidase activity	IBA
GO:0004135	Function	Amylo-alpha-1,6-glucosidase activity	IEA
GO:0005515	Function	Protein binding	IPI	17908927, 24837458
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	17908927
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005980	Process	Glycogen catabolic process	IBA
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0005980	Process	Glycogen catabolic process	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0016234	Component	Inclusion body	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030247	Function	Polysaccharide binding	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043033	Component	Isoamylase complex	TAS	1374391
GO:0051384	Process	Response to glucocorticoid	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 610860
• HGNC: 321
• e!Ensembl: ENSG00000162688

Protein

• UniProt ID: P35573
• Protein name: Glycogen debranching enzyme (Glycogen debrancher) [Includes: 4-alpha-glucanotransferase (EC 2.4.1.25) (Oligo-1,4-1,4-glucantransferase); Amylo-alpha-1,6-glucosidase (Amylo-1,6-glucosidase) (EC 3.2.1.33) (Dextrin 6-alpha-D-glucosidase)]
• Protein function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14699	hGDE_N	31 → 116	N-terminal domain from the human glycogen debranching enzyme	Family
  PF14701	hDGE_amylase	120 → 551	Glycogen debranching enzyme, glucanotransferase domain	Domain
  PF14702	hGDE_central	697 → 974	Central domain of human glycogen debranching enzyme	Domain
  PF06202	GDE_C	1042 → 1527	Amylo-alpha-1,6-glucosidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and m
• Sequence:

  MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNRE
  KFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNH
  VLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLE
  LNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVN
  SPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
  FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPH
  DKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVT
  RKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYL
  RRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYML
  DAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
  VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGY
  DELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQV
  YVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEAR
  TIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENL
  SPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
  LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNL
  RSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLD
  TAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQC
  CVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLL
  GEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
  FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWM
  DKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAI
  KVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPN
  FTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLA
  KGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
  PELTNENAQYCPFSCETQAWSIATILETLYDL

• Sequence length: 1532

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Reactome:

Neutrophil degranulation
Glycogen breakdown (glycogenolysis)

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Glycogen Storage Disease	glycogen storage disease type iii, glycogen storage disease iiia, glycogen storage disease iiic, glycogen storage disease iiib	rs1057517243, rs1570438459, rs113994128, rs1553188849, rs1057517405, rs140095668, rs1057516948, rs1571243862, rs370792293, rs1553185905, rs12118058, rs766536350, rs113994134, rs1293077915, rs531425980, rs193186112, rs777857395, rs765367405, rs1432024176, rs1057516994, rs1188310172, rs1057516913, rs1650040391, rs786204678, rs1553193530, rs1553193463, rs369973784, rs1553193529, rs1057516793, rs1057516868, rs1206517501, rs267606639, rs1289339080, rs780883601, rs1553183220, rs764591009, rs1057516570, rs780694207, rs786204616, rs1553186613, rs786204655, rs1553181400, rs1057516306, rs794727706, rs757967016, rs1239498701, rs267606640, rs767346840, rs775685508, rs1553185302, rs387906244, rs1354714214, rs1057516563, rs758182700, rs786204481, rs1553187957, rs1570433472, rs1215043175, rs1057516952, rs794729208, rs1057516308, rs774926455, rs1553190751, rs751952198, rs1553183359, rs1553183148, rs1057516708, rs1652018859, rs773095419, rs770438130, rs199922945, rs1553185418, rs1057516513, rs886039883, rs1057517344, rs776977863, rs113994130, rs1553184620, rs1064795728, rs113994126, rs930434905, rs1057516666, rs1652879873, rs786204490, rs1553189468, rs201201443, rs1570508240, rs1553185883, rs1057517079, rs760589837, rs1057516397, rs1480850606, rs113994131, rs755747010, rs771069887, rs751112302, rs1057517136, rs1654912428, rs1185321132, rs1057516870, rs1571232214, rs118203964, rs1553183178, rs764318570, rs776733170, rs1057516471, rs1571232325, rs786204489, rs1553193486, rs113994129, rs878959417, rs1057517425, rs786204595, rs1057517057, rs1571232404, rs113994132, rs1553186577, rs1057517017, rs1553185474, rs748789700, rs1570445130, rs781580050, rs1553184657, rs1553188832, rs775498547, rs1057516984, rs1553190316, rs1057516567, rs1571243699, rs1553188559, rs867341758, rs1553186489, rs763554006, rs370202718, rs771961377, rs1327892944, rs771853367, rs1443902661, rs1057516254, rs113994127, rs1557794150, rs1057517347, rs1570433686, rs387906246, rs750492389, rs745757264, rs757987101, rs1057516741, rs1570487381, rs1553187237, rs1553185403, rs756175624, rs1553192718	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Meniere Disease	meniere disease	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Cardiomyopathies	Associate	17895567, 35578201
Congenital Disorders of Glycosylation	Associate	36579437
Dimauro disease	Associate	32772503
Gerstmann Straussler Scheinker Disease	Associate	25827695, 36579437, 8755644
Glycogen Storage Disease	Associate	20431168, 32772503
Glycogen Storage Disease Type II	Associate	20648714, 25602008
Glycogen Storage Disease Type III	Associate	20631546, 20648714, 23207808, 25602008, 25827695, 27106217, 29310060, 29614965, 30916492, 31454184, 34405590, 35578201, 8755644, 9032647
Glycogen Storage Disease Type VI	Associate	32772503
Growth Disorders	Associate	32772503, 35578201
Hepatomegaly	Associate	17895567, 35578201
Hepatorenal form of glycogen storage disease	Associate	32772503
Hereditary pancreatitis	Associate	37603299
Hirschsprung Disease	Associate	29093530
Hyperlipidemias	Associate	35578201
Hypertrophy Left Ventricular	Associate	17895567
Hypoglycemia	Associate	35578201
Insulin Resistance	Associate	29986096
Metabolic Diseases	Associate	29310060
Muscular Diseases	Associate	29614965, 35578201
Osler rendu weber syndrome 2	Associate	23882694
Retinitis	Associate	23882694
Tyrosinemias	Associate	35578201
Uniparental Disomy	Associate	34405590
Urinary Bladder Neoplasms	Associate	27595989
Usher syndrome type 2A	Associate	34405590