ALG12 (ALG12 alpha-1,6-mannosyltransferase)

Gene

• Entrez ID: 79087
• Gene name: ALG12 alpha-1,6-mannosyltransferase
• Gene symbol: ALG12
• Synonyms: CDG1G, ECM39, PP14673, hALG12
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000009	Function	Alpha-1,6-mannosyltransferase activity	IBA	21873635
GO:0000030	Function	Mannosyltransferase activity	IBA	21873635
GO:0000030	Function	Mannosyltransferase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	NAS	12217961
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006457	Process	Protein folding	NAS	12217961
GO:0006487	Process	Protein N-linked glycosylation	IBA	21873635
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	11983712
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0052917	Function	Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase	IEA
GO:0097502	Process	Mannosylation	IEA

Other IDs

• MIM: 607144
• HGNC: 19358
• e!Ensembl: ENSG00000182858

Protein

• UniProt ID: 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

Pathways

KEGG:

N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways

Reactome:

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG12 causes ALG12-CDG (CDG-1g)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital disorder of glycosylation	Congenital disorder of glycosylation type 1G, ALG12-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	17506107, 11983712, 12217961, 12736397, 12093361, 27604308
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital clubfoot	Congenital clubfoot
Short femur	Congenital hypoplasia of femur
Congenital hypoplasia of radius	Congenital hypoplasia of radius
Hypospadias	Hypospadias
Impaired cognition	Impaired cognition
Patent foramen ovale	Foramen Ovale, Patent
Penis agenesis	Penis agenesis
Rhizomelia	Rhizomelia