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	79087
Gene name	ALG12 alpha-1,6-mannosyltransferase
Gene symbol	ALG12
Synonyms (NCBI Gene)	CDG1GECM39PP14673hALG12
Chromosome	22
Chromosome location	22q13.33
Summary	This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for pro

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28942090	A>C	Pathogenic	Coding sequence variant, missense variant
rs113652023	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs121907931	G>A	Pathogenic	Coding sequence variant, missense variant
rs121907932	C>T	Pathogenic	Coding sequence variant, missense variant
rs121907933	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121907934	A>G	Pathogenic	Coding sequence variant, missense variant
rs121907935	G>A,C	Likely-benign, pathogenic	Intron variant, stop gained, synonymous variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs759244819	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs761221480	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs775856400	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs1057517895	C>A	Likely-pathogenic	Splice donor variant
rs1555930118	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1569174722	GT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017824	hsa-miR-335-5p	Microarray	18185580
MIRT778237	hsa-miR-1197	CLIP-seq
MIRT778238	hsa-miR-1285	CLIP-seq
MIRT778239	hsa-miR-1286	CLIP-seq
MIRT778240	hsa-miR-1291	CLIP-seq
MIRT778241	hsa-miR-1293	CLIP-seq
MIRT778242	hsa-miR-1827	CLIP-seq
MIRT778243	hsa-miR-1910	CLIP-seq
MIRT778244	hsa-miR-2467-5p	CLIP-seq
MIRT778245	hsa-miR-3121-5p	CLIP-seq
MIRT778246	hsa-miR-3187-5p	CLIP-seq
MIRT778247	hsa-miR-3188	CLIP-seq
MIRT778248	hsa-miR-331-3p	CLIP-seq
MIRT778249	hsa-miR-34a	CLIP-seq
MIRT778250	hsa-miR-34c-5p	CLIP-seq
MIRT778251	hsa-miR-3620	CLIP-seq
MIRT778252	hsa-miR-3661	CLIP-seq
MIRT778253	hsa-miR-3663-5p	CLIP-seq
MIRT778254	hsa-miR-3665	CLIP-seq
MIRT778255	hsa-miR-3690	CLIP-seq
MIRT778256	hsa-miR-3975	CLIP-seq
MIRT778257	hsa-miR-3977	CLIP-seq
MIRT778258	hsa-miR-4257	CLIP-seq
MIRT778259	hsa-miR-4292	CLIP-seq
MIRT778260	hsa-miR-4299	CLIP-seq
MIRT778261	hsa-miR-4308	CLIP-seq
MIRT778262	hsa-miR-4436a	CLIP-seq
MIRT778263	hsa-miR-4456	CLIP-seq
MIRT778264	hsa-miR-4483	CLIP-seq
MIRT778265	hsa-miR-449a	CLIP-seq
MIRT778266	hsa-miR-449b	CLIP-seq
MIRT778267	hsa-miR-4527	CLIP-seq
MIRT778268	hsa-miR-4535	CLIP-seq
MIRT778269	hsa-miR-4649-3p	CLIP-seq
MIRT778270	hsa-miR-4695-5p	CLIP-seq
MIRT778271	hsa-miR-4701-5p	CLIP-seq
MIRT778272	hsa-miR-4736	CLIP-seq
MIRT778273	hsa-miR-485-5p	CLIP-seq
MIRT778274	hsa-miR-492	CLIP-seq
MIRT778275	hsa-miR-541	CLIP-seq
MIRT778276	hsa-miR-548q	CLIP-seq
MIRT778277	hsa-miR-588	CLIP-seq
MIRT778278	hsa-miR-612	CLIP-seq
MIRT778279	hsa-miR-631	CLIP-seq
MIRT778280	hsa-miR-654-5p	CLIP-seq
MIRT778281	hsa-miR-764	CLIP-seq
MIRT778282	hsa-miR-765	CLIP-seq
MIRT778283	hsa-miR-940	CLIP-seq
MIRT1929717	hsa-miR-125a-5p	CLIP-seq
MIRT1929718	hsa-miR-125b	CLIP-seq
MIRT778248	hsa-miR-331-3p	CLIP-seq
MIRT1929719	hsa-miR-342-5p	CLIP-seq
MIRT1929720	hsa-miR-4319	CLIP-seq
MIRT1929721	hsa-miR-4324	CLIP-seq
MIRT1929722	hsa-miR-4664-5p	CLIP-seq
MIRT1929723	hsa-miR-4729	CLIP-seq
MIRT2170538	hsa-miR-1273	CLIP-seq
MIRT778238	hsa-miR-1285	CLIP-seq
MIRT778246	hsa-miR-3187-5p	CLIP-seq
MIRT778253	hsa-miR-3663-5p	CLIP-seq
MIRT2170539	hsa-miR-378g	CLIP-seq
MIRT2170540	hsa-miR-4486	CLIP-seq
MIRT778267	hsa-miR-4527	CLIP-seq
MIRT2170541	hsa-miR-4649-5p	CLIP-seq
MIRT2170542	hsa-miR-4663	CLIP-seq
MIRT2170543	hsa-miR-4704-3p	CLIP-seq
MIRT778278	hsa-miR-612	CLIP-seq
MIRT1929717	hsa-miR-125a-5p	CLIP-seq
MIRT1929718	hsa-miR-125b	CLIP-seq
MIRT2384085	hsa-miR-3160-3p	CLIP-seq
MIRT1929720	hsa-miR-4319	CLIP-seq
MIRT2384086	hsa-miR-4487	CLIP-seq
MIRT2384087	hsa-miR-558	CLIP-seq
MIRT2384088	hsa-miR-671-5p	CLIP-seq
MIRT1929719	hsa-miR-342-5p	CLIP-seq
MIRT2473102	hsa-miR-4447	CLIP-seq
MIRT2473103	hsa-miR-4466	CLIP-seq
MIRT2473104	hsa-miR-4472	CLIP-seq
MIRT1929722	hsa-miR-4664-5p	CLIP-seq
MIRT2473105	hsa-miR-4733-3p	CLIP-seq
MIRT2473106	hsa-miR-675	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000009	Function	Alpha-1,6-mannosyltransferase activity	IBA
GO:0000030	Function	Mannosyltransferase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	12217961
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006457	Process	Protein folding	NAS	12217961
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IBA
GO:0006487	Process	Protein N-linked glycosylation	IMP	11983712, 12093361
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	11983712
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	11983712, 12093361
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0052917	Function	Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	IEA
GO:0052917	Function	Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	IMP	11983712, 12093361
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IC	12217961

MIM	HGNC	e!Ensembl
607144	19358	ENSG00000182858

Q9BV10

Protein name

Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (EC 2.4.1.260) (Asparagine-linked glycosylation protein 12 homolog) (hALG12) (Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase) (Mannosyltransferase ALG12 homolog) (Mem

Protein function

Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03901	Glyco_transf_22	13 → 406	Alg9-like mannosyltransferase family	Family

Sequence

MAGKGSSGRRPLLLGLLVAVATVHLVICPYTKVEESFNLQATHDLLYHWQDLEQYDHLEF
PGVVPRTFLGPVVIAVFSSPAVYVLSLLEMSKFYSQLIVRGVLGLGVIFGLWTLQKEVRR
HFGAMVATMFCWVTAMQFHLMFYCTRTLPNVLALPVVLLALAAWLRHEWARFIWLSAFAI
IVFRVELCLFLGLLLLLALGNRKVSVVRALRHAVPAGILCLGLTVAVDSYFWRQLTWPEG
KVLWYNTVLNKSSNWGTSPLLWYFYSALPRGLGCSLLFIPLGLVDRRTHAPTVLALGFMA
LYSLLPHKELRFIIYAFPMLNITAARGCSYLLNNYKKSWLYKAGSLLVIGHLVVNAAYSA
TALYVSHFNYPGGVAMQRLHQLVPPQTDVLLHIDVAAAQTGVSRFLQVNSAWRYDKREDV
QPGTGMLAYTHILMEAAPGLLALYRDTHRVLASVVGTTGVSLNLTQLPPFNVHLQTKLVL
LERLPRPS

Sequence length

488

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 ALG12 causes ALG12-CDG (CDG-1g)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALG12-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs770711819, rs188399257, rs2147585338, rs754565538, rs1569175744, rs2146607840, rs28942090, rs121907932, rs121907933, rs121907934, rs121907935, rs1206413996, rs1328280874, rs1404131978, rs768399493 View all (14 more)	RCV001380756 RCV001785911 RCV001936967 RCV001997068 RCV001972395 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALG12-related disorder	Likely pathogenic; Pathogenic	rs121907932, rs121907933	RCV003421901 RCV003398431	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IG	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ALG12-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	40243517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1G	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	11983712, 12093361, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1G	Congenital disorder of glycosylation	UNIPROT_DG	11983712, 12093361, 12217961, 12736397, 17506107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1G	Congenital disorder of glycosylation	CLINVAR_DG	12217961		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1G	Congenital disorder of glycosylation	BEFREE	16079417		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1G	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	31529350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	11983712, 34467644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	Congenital disorder of glycosylation	BEFREE	16079417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	12217961, 25966638, 27393411, 31743061		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	26805780	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of femur	Short femur	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	11983712, 34467644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31743061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ALG12 (ALG12 alpha-1,6-mannosyltransferase)