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)

523

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001892424 RCV000003602 RCV000003604 RCV000003605 RCV000003606 RCV000003607 RCV003064663 RCV002607280 RCV002944180 RCV003020806 RCV002996869 RCV003022126 RCV000234879 RCV000234907 RCV003348535 RCV003500973 RCV003501697 RCV003608001 RCV003608158 RCV000679905 RCV000789051 RCV001068820 RCV001242412 RCV001269279
ALG12-related disorder	Likely pathogenic; Pathogenic	rs121907932, rs121907933	RCV003421901 RCV003398431

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs114264124	RCV005887638
Cholangiocarcinoma	Benign	rs56248708	RCV005924909
Clear cell carcinoma of kidney	Benign; Likely benign	rs114264124	RCV005887639
Congenital disorder of glycosylation	Uncertain significance; Likely benign	rs752077223, rs16445, rs113787911, rs747205653, rs886057612	RCV000362226 RCV000322666 RCV000329894 RCV000261715 RCV000328476
Gastric cancer	Benign; Likely benign; Uncertain significance	rs114264124, rs751915470	RCV005887640 RCV005902099
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs56248708, rs564172046	RCV005924906 RCV005907620
Lung cancer	Benign; Likely benign	rs114264124	RCV005887642
Sarcoma	Conflicting classifications of pathogenicity	rs138266806	RCV005897563
Thymoma	Benign; Likely benign	rs114264124	RCV005887641
Uterine carcinosarcoma	Benign	rs56248708	RCV005924908
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114264124	RCV005887643
Uveal melanoma	Benign	rs56248708	RCV005924907

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cerebral Palsy	Associate	40243517
Clinical Deterioration	Associate	34467644
Congenital Disorder Of Glycosylation Type In	Associate	11983712, 34467644
Congenital Disorders of Glycosylation	Associate	26805780
Fructose Intolerance	Associate	35279850
Glycogen Storage Disease XIV	Associate	11983712, 34467644

ALG12 (ALG12 alpha-1,6-mannosyltransferase)