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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	199857
Gene name Gene Name - the full gene name approved by the HGNC.	ALG14 UDP-N-acetylglucosaminyltransferase subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALG14
Synonyms (NCBI Gene) Gene synonyms aliases	CMS15, IDDEBF, MEPCA
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CMS15, IDDEBF, MEPCA
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p21.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this

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SNP ID	Visualize variation	Clinical significance	Consequence
rs139521179	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT705779	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT705778	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT705777	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT705776	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT705775	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT705774	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT705773	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT705772	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT705771	hsa-miR-8073	HITS-CLIP	23313552
MIRT705770	hsa-miR-4794	HITS-CLIP	23313552
MIRT705769	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705768	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT705767	hsa-miR-1273f	HITS-CLIP	23313552
MIRT705766	hsa-miR-3150b-3p	HITS-CLIP	23313552
MIRT705765	hsa-miR-4784	HITS-CLIP	23313552
MIRT705764	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT660734	hsa-miR-4534	HITS-CLIP	23313552
MIRT660733	hsa-miR-8082	HITS-CLIP	23313552
MIRT705763	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT705762	hsa-miR-4710	HITS-CLIP	23313552
MIRT705761	hsa-miR-4689	HITS-CLIP	23313552
MIRT705760	hsa-miR-6858-5p	HITS-CLIP	23313552
MIRT441829	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT669554	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669553	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT669552	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT669551	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT669550	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669549	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669548	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669547	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669546	hsa-miR-3652	HITS-CLIP	23824327
MIRT669545	hsa-miR-4430	HITS-CLIP	23824327
MIRT669544	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT669543	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669542	hsa-miR-7641	HITS-CLIP	23824327
MIRT669541	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT669540	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT669539	hsa-miR-5698	HITS-CLIP	23824327
MIRT660748	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT660747	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT660746	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT660745	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT660744	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT660743	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT660742	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT660741	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT660740	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660739	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT660738	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT660737	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT660736	hsa-miR-4486	HITS-CLIP	23824327
MIRT660735	hsa-miR-5186	HITS-CLIP	23824327
MIRT660734	hsa-miR-4534	HITS-CLIP	23824327
MIRT660733	hsa-miR-8082	HITS-CLIP	23824327
MIRT660732	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT660731	hsa-miR-661	HITS-CLIP	23824327
MIRT660730	hsa-miR-6717-5p	HITS-CLIP	23824327
MIRT660729	hsa-miR-4649-5p	HITS-CLIP	23824327
MIRT660728	hsa-miR-6729-5p	HITS-CLIP	23824327
MIRT660727	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT660726	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT660725	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT660724	hsa-miR-7703	HITS-CLIP	23824327
MIRT571068	hsa-miR-18a-5p	PAR-CLIP	20371350
MIRT571067	hsa-miR-18b-5p	PAR-CLIP	20371350
MIRT571066	hsa-miR-4735-3p	PAR-CLIP	20371350
MIRT571064	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT571065	hsa-miR-575	PAR-CLIP	20371350
MIRT571063	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT571062	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT571061	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT560447	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT560446	hsa-miR-3125	PAR-CLIP	20371350
MIRT560445	hsa-miR-3916	PAR-CLIP	20371350
MIRT560444	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT560443	hsa-miR-1253	PAR-CLIP	20371350
MIRT560442	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560441	hsa-miR-4314	PAR-CLIP	20371350
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445874	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT705779	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT705778	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT705777	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT705776	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT705775	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT705774	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT705773	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT705772	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT705771	hsa-miR-8073	HITS-CLIP	23313552
MIRT705770	hsa-miR-4794	HITS-CLIP	23313552
MIRT705769	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705768	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT705767	hsa-miR-1273f	HITS-CLIP	23313552
MIRT705766	hsa-miR-3150b-3p	HITS-CLIP	23313552
MIRT705765	hsa-miR-4784	HITS-CLIP	23313552
MIRT705764	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT660734	hsa-miR-4534	HITS-CLIP	23313552
MIRT660733	hsa-miR-8082	HITS-CLIP	23313552
MIRT705763	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT705762	hsa-miR-4710	HITS-CLIP	23313552
MIRT705761	hsa-miR-4689	HITS-CLIP	23313552
MIRT705760	hsa-miR-6858-5p	HITS-CLIP	23313552
MIRT441829	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT669554	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669553	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT669552	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT669551	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT669550	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669549	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669548	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669547	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669546	hsa-miR-3652	HITS-CLIP	23824327
MIRT669545	hsa-miR-4430	HITS-CLIP	23824327
MIRT669544	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT669543	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669542	hsa-miR-7641	HITS-CLIP	23824327
MIRT669541	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT669540	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT669539	hsa-miR-5698	HITS-CLIP	23824327
MIRT660748	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT660747	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT660746	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT660745	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT660744	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT660743	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT660742	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT660741	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT660740	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660739	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT660738	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT660737	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT660736	hsa-miR-4486	HITS-CLIP	23824327
MIRT660735	hsa-miR-5186	HITS-CLIP	23824327
MIRT660734	hsa-miR-4534	HITS-CLIP	23824327
MIRT660733	hsa-miR-8082	HITS-CLIP	23824327
MIRT660732	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT660731	hsa-miR-661	HITS-CLIP	23824327
MIRT660730	hsa-miR-6717-5p	HITS-CLIP	23824327
MIRT660729	hsa-miR-4649-5p	HITS-CLIP	23824327
MIRT660728	hsa-miR-6729-5p	HITS-CLIP	23824327
MIRT660727	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT660726	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT660725	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT660724	hsa-miR-7703	HITS-CLIP	23824327
MIRT571068	hsa-miR-18a-5p	PAR-CLIP	20371350
MIRT571067	hsa-miR-18b-5p	PAR-CLIP	20371350
MIRT571066	hsa-miR-4735-3p	PAR-CLIP	20371350
MIRT571064	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT571065	hsa-miR-575	PAR-CLIP	20371350
MIRT571063	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT571062	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT571061	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT560447	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT560446	hsa-miR-3125	PAR-CLIP	20371350
MIRT560445	hsa-miR-3916	PAR-CLIP	20371350
MIRT560444	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT560443	hsa-miR-1253	PAR-CLIP	20371350
MIRT560442	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560441	hsa-miR-4314	PAR-CLIP	20371350
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445874	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT778436	hsa-miR-296-3p	CLIP-seq
MIRT778437	hsa-miR-3679-3p	CLIP-seq
MIRT778438	hsa-miR-4446-5p	CLIP-seq
MIRT2170582	hsa-miR-1266	CLIP-seq
MIRT2170583	hsa-miR-3169	CLIP-seq
MIRT2170584	hsa-miR-3664-3p	CLIP-seq
MIRT2170585	hsa-miR-4436a	CLIP-seq
MIRT2170586	hsa-miR-4518	CLIP-seq

Show/Hide all(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA	21873635
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IBA	21873635

MIM	HGNC	e!Ensembl
612866	28287	ENSG00000172339

Protein

UniProt ID

Q96F25

Protein name

UDP-N-acetylglucosamine transferase subunit ALG14 (Asparagine-linked glycosylation 14 homolog)

Protein function

Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligos

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08660	Alg14	39 → 215	Oligosaccharide biosynthesis protein Alg14 like	Family

Sequence

MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLS
NAYSPRHYVIADTDEMSANKINSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVF
TTLHSMWLSFPLIHRVKPDLVLCNGPGTCVPICVSALLLGILGIKKVIIVYVESICRVET
LSMSGKILFHLSDYFIVQWPALKEKYPKSVYLGRIV

Sequence length

216

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Myasthenic syndrome	Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 15	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922 View all (237 more)	23404334, 28733338, 27604308
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	28733338
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913 View all (8 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Myasthenic Syndrome	congenital myasthenic syndrome 15	GenCC
Cerebral Atrophy	myopathy, epilepsy, and progressive cerebral atrophy	GenCC
Congenital disorder of glycosylation	congenital disorder of glycosylation	GenCC
Congenital Myasthenic Syndromes With Glycosylation Defect	congenital myasthenic syndromes with glycosylation defect	GenCC

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Congenital Disorders of Glycosylation	Associate	28733338, 35327592
Epilepsy	Associate	28733338
Genetic Diseases Inborn	Associate	28733338
Multiple System Atrophy	Associate	23404334, 34908252
Muscular Diseases	Associate	28733338, 34908252
Myasthenic Syndromes Congenital	Associate	23404334, 28733338
Neurodegenerative Diseases	Associate	28733338

ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit)