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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POMT2 Gene

protein-coding GIFtS: 56
GCID: GC14M077741

protein-O-mannosyltransferase 2

Explore 19 diseases affiliated with
POMT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Protein-O-Mannosyltransferase 2¹ ²		MDDGB2² ⁵
LGMD2N¹ ²		MDDGC2² ⁵
Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 2² ³		Protein O-Mannosyl-Transferase 2²
MDDGA2² ⁵		EC 2.4.1.109³

External Ids:	HGNC: 19743¹	Entrez Gene: 29954²	Ensembl: ENSG00000009830⁷	OMIM: 607439⁵	UniProtKB: Q9UKY4³

Export aliases for POMT2 gene to outside databases

Previous GC identifers: GC14M075249 GC14M071558 GC14M075731 GC14M076811 GC14M057907

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POMT2:

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1

gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in

this gene are a cause of Walker-Warburg syndrome (WWS).(provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4

Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1

and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient

Gene Wiki entry for POMT2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the POMT2 gene promoter:
HNF-3beta C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POMT2 promoter sequence

Search SABiosciences Chromatin IP Primers for POMT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POMT2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24 Ensembl cytogenetic band: 14q24.3 HGNC cytogenetic band: 14q24

POMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POMT2 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M077741: view genomic region (about GC identifiers)

Start:	77,741,299 bp from pter	End:	77,787,227 bp from pter
Size:	45,929 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4 (See protein sequence)

Recommended Name: Protein O-mannosyl-transferase 2

Size: 750 amino acids; 84214 Da

Cofactor: Magnesium. Manganese and calcium ions suppress enzyme activity

Subunit: Interacts with POMT1 (Probable)

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Sequence caution: Sequence=CAD62348.1; Type=Erroneous translation; Note=Wrong choice of frame;

Secondary accessions: Q9NSG6 Q9P1W0 Q9P1W2

Alternative splicing: 2 isoforms: Q9UKY4-1 Q9UKY4-2 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POMT2: NX_Q9UKY4

Post-translational modifications:

N-glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UKY4

POMT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_037514.2

ENSEMBL proteins:

ENSP00000261534 ENSP00000451967 ENSP00000451730 ENSP00000451651 ENSP00000451115

ENSP00000450630 ENSP00000452060

Human Recombinant Protein Products:

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	Uscn Proteins for POMT2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--

POMT2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

POMT2 for domains About GeneDecksing

3 InterPro domains/families:

IPR003342 Glyco_trans_39

IPR027005 GlyclTrfase_39_like

IPR016093 MIR_motif

Graphical View of Domain Structure for InterPro Entry Q9UKY4

ProtoNet protein and cluster: Q9UKY4

2 Blocks protein families:

IPB003342 Glycosyl transferase

IPB003608 MIR domain

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4

Similarity: Belongs to the glycosyltransferase 39 family

Similarity: Contains 3 MIR domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4

Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1

and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient

Catalytic activity: Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein

Enzyme Number (IUBMB): EC 2.4.1.109¹

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		hsa-miR-132* hsa-miR-642a hsa-miR-3605-3p hsa-miR-214* hsa-miR-637 hsa-miR-3143 hsa-miR-3140-3p hsa-miR-4271

		SwitchGear 3'UTR luciferase reporter plasmid: POMT2 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000030	mannosyltransferase activity	--	--
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA	--
GO:0046872	metal ion binding	IEA	--

POMT2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Pomt2^tm1.2Hhu for POMT2
     6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pomt2):

cellular	embryogenesis	growth/size	mortality/aging	nervous system
other

POMT2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glucuronidation

Other types of O-glycan biosynthesis

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for POMT2):

Other types of O-glycan biosynthesis

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4

Pathway: Protein modification; protein glycosylation

POMT2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for POMT2

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/54 Interacting proteins for POMT2 (Q9UKY4³ ENSP00000261534⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 54)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ALG3	Q92685³, ENSP00000380793⁴	I2D: score=1 STRING: ENSP00000380793
POMT1	Q9Y6A1³, ENSP00000361302⁴	I2D: score=1 STRING: ENSP00000361302
ALG6	Q9Y672³, ENSP00000360149⁴	I2D: score=1 STRING: ENSP00000360149
ATP13A1	Q9HD20³, ENSP00000349877⁴	I2D: score=1 STRING: ENSP00000349877
ARPC3	O15145³, ENSP00000228825⁴	I2D: score=1 STRING: ENSP00000228825

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006493	protein O-linked glycosylation	IEA	--

POMT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for POMT2

5 HMDB Compounds for POMT2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Dolichol phosphate	dolichol-phosphate (see all 6)	34457-14-2	--
Dolichyl phosphate D-mannose	Dolichyl D-mannosyl phosphate (see all 4)	908211-94-9	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--

Search CenterWatch for drugs/clinical trials and news about POMT2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for POMT2 gene:

NM_013382.5

Unigene Cluster for POMT2:

Protein-O-mannosyltransferase 2

Hs.132989 [show with all ESTs]

Unigene Representative Sequence: AK023804

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000261534(uc001xti.2 uc010asr.2) ENST00000554767(uc001xth.1)

ENST00000452340 ENST00000556394 ENST00000555710 ENST00000556446 ENST00000556171

ENST00000555134 ENST00000554564 ENST00000554884 ENST00000553880 ENST00000557675

ENST00000556404 ENST00000556851 ENST00000557289 ENST00000553863 ENST00000556326

ENST00000555675

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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate POMT2 (see all 20):
		hsa-miR-132* hsa-miR-642a hsa-miR-3605-3p hsa-miR-214* hsa-miR-637 hsa-miR-3143 hsa-miR-3140-3p hsa-miR-4271

		SwitchGear 3'UTR luciferase reporter plasmid: POMT2 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POMT2

Additional cDNA sequence:

AF105020.1 AK023804.1 AK025962.1 AL049462.1 AL353956.1 AY090480.1 BC031651.1 BX248027.1

CR627447.1

13 DOTS entries:

DT.91742829 DT.100810695 DT.111079 DT.100026431 DT.95374341 DT.100784655 DT.100713155 DT.91733170

DT.95374337 DT.100784654 DT.120774055 DT.40230300 DT.95255215

24/177 AceView cDNA sequences (see all 177):

AW206197 AL704632 BQ772761 Z40419 AI299881 BM985418 BX248027 AA954314

R79071 BQ005294 BU682506 AI246447 BU742093 NM_013382 BU736492 BU627752

AI290746 BU846069 AI337014 CB148531 BU159613 AI628073 AW160370 AA258184

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for POMT2 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17a	·	17b	·	17c	^	18a	·	18b	^
SP1:							-						-								-												-										-								-
SP2:							-						-								-												-										-								-
SP3:																																	-										-								-
SP4:																																																			-
SP5:							-		-				-

ExUns:	19	^	20a	·	20b	^	21a	·	21b	^	22a	·	22b	·	22c	·	22d	^	23a	·	23b	^	24a	·	24b	·	24c	·	24d
SP1:					-		-		-		-		-								-
SP2:																					-
SP3:					-		-		-		-		-								-
SP4:							-				-		-
SP5:

ECgene alternative splicing isoforms for POMT2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POMT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See POMT2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POMT2

SOURCE GeneReport for Unigene cluster: Hs.132989

UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4

Tissue specificity: Highly expressed in testis; detected at low levels in most tissues

SABiosciences Expression via Pathway-Focused PCR Array including POMT2:

Glycosylation in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for POMT2 gene from 6/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pomt2^{1 , 5}	protein-O-mannosyltransferase 2^{1, 5}	88.62(n)¹ 90.8(a)¹		12 (41.30 cM)⁵ 217734¹ NM_153415.3¹ NP_700464.2¹ 87106866⁵
chicken (Gallus gallus)	Aves	POMT2¹	protein-O-mannosyltransferase 2	74.34(n) 78.63(a)		423373 XM_421287.3 XP_421287.2
lizard (Anolis carolinensis)	Reptilia	POMT2⁶ POMT1⁶	--	78(a) 23(a)	1 ↔ 1 possible ortholog	1(20784433-20818051) GL344906.1(1382-7292)
zebrafish (Danio rerio)	Actinopterygii	pomt2¹	protein-O-mannosyltransferase 2	66.13(n) 70.74(a)		563878 NM_001045033.1 NP_001038498.1
fruit fly (Drosophila melanogaster)	Insecta	EG:34F3.7³ tw¹	dolichyl-phosphate-mannose-protein mannosyltransferase³ Protein O-mannosyltransferase 2¹	49(a)³ 58.48(n)¹ 55.6(a)¹		1C4³ 31024¹ NM_130502.2¹ NP_569858.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PMT3(YOR321W)⁴ PMT2¹	Protein O-mannosyltransferase, transfers mannose residues more⁴ Pmt2p¹	47.41(n)¹ 38.86(a)¹		15(916030-918291)⁴ 851210¹ NP_009379.2¹ 854499⁴ NP_014966.1⁴

ENSEMBL Gene Tree for POMT2 (if available)
TreeFam Gene Tree for POMT2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for POMT2 gene

POMT1²

2 SIMAP similar genes for POMT2 using alignment to 6 protein entries: POMT2_HUMAN (see all proteins):

DKFZp686G10254 POMT1

POMT2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190285831^1,2	C,	pathogenic	93895547(+)	`CTAGTC/GGAATA`	2	P R	mis¹		0	--	--	--	--
rs200198778^1,2	C	pathogenic	93905564(+)	`GGAAGC/TAGTGG`	2	Y C	mis¹		0	--	--	--	--
rs141339355^1,2	C,F,	other	93888089(+)	`CATCCG/AGAGGT`	2	/R /W	mis¹		1		NA	4434
rs55673423^1,2	C,F,	--	57907508(+)	`ACTCAA/GGTAAC`	1	--	ds500¹		1		WA	118
rs45579739^1,2		--	57907979(+)	`GGCCTC/TGCTCC`	1	--	ut3¹		0	--	--	--	--
rs114623446^1,2	C,F,	--	57908237(+)	`AAAATC/TAGCCA`	1	--	ut3¹		1		WA	118
rs45458096^1,2	C,F,	--	57908382(+)	`GGGAGA/C/G/T ACACA`	3	--	ut3¹		5		WA CSA NA	244
rs45518539^1,2	C,F,	--	57908614(+)	`AATGAC/TGGTTG`	1	--	ut3¹		6		NA WA CSA	128
rs45561437^1,2	C,F,	--	57908793(+)	`NNNNTG/AGCGGA`	1	--	ut3¹		2		NA EA	240
rs59725094^1,2	C,	--	57909043(+)	`CTGAAG/ACAGTG`	1	--	ut3¹		2		WA	120

HapMap Linkage Disequilibrium report for POMT2 (77741299 - 77787227 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for POMT2: --
Human Gene Mutation Database (HGMD): POMT2

Locus Specific Mutation Databases (LSDB): POMT2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

POMT2 for disorders           About GeneDecksing

OMIM gene information: 607439
OMIM disorders: 613150  613156  613158
UniProtKB/Swiss-Prot: POMT2_HUMAN, Q9UKY4

Defects in POMT2 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye

anomalies type A2 (MDDGA2) [MIM:613150]; also called Walker-Warburg syndrome or muscle-eye-brain disease

POMT2-related. MDDGA2 is a autosomal recessive disorder characterized by congenital muscular dystrophy associated with

cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually

in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe

muscle-eye-brain disease

Defects in POMT2 are the cause of muscular dystrophy-dystroglycanopathy congenital with mental retardation

type B2 (MDDGB2) [MIM:613156]; also called muscular dystrophy congenital POMT2-related. MDDGB2 is an autosomal

recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild

structural brain abnormalities

Defects in POMT2 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2)

[MIM:613158]; also called limb-girdle muscular dystrophy type 2N (LGMD2N) or muscular dystrophy-dystroglycanopathy

limb-girdle POMT2-related (MDGD2C). MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is

achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows

dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal

19 diseases for POMT2: About MalaCards

walker-warburg syndrome muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 muscular dystrophy-dystroglycanopathy muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2

limb-girdle muscular dystrophy type 2n limb-girdle muscular dystrophy muscular dystrophy muscle-eye-brain disease

cleft lip +/- cleft palate cleft lip cleft palate congenital muscular dystrophy

intellectual disability intrahepatic cholangiocarcinoma brain disease lissencephaly

microcephaly cholangiocarcinoma malaria

3 diseases from the University of Copenhagen DISEASES database for POMT2:

Myopathy Lissencephaly Neuropathy

2 Novoseek disease relationships for POMT2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
walker-warburg syndrome	97.3	5	18513969 (1), 18939472 (1), 15894594 (1), 18490429 (1) (see all 5)
muscular dystrophies	89.6	3	18513969 (1), 19067344 (1), 18490429 (1)

Human Genome Epidemiology (HuGE) Navigator: POMT2 (4 documents)

Export disorders for POMT2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for POMT2 gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with POMT2)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. (PubMed id 12460945)^{1, 2, 3} Willer T....Strahl S. (2002)
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (PubMed id 15894594)^{1, 2, 9} van Reeuwijk J.... van Bokhoven H. (2005)
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PubMed id 17878207)^{1, 2, 9} Godfrey C....Muntoni F. (2007)
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)^{1, 2, 9} Mercuri E....Bertini E. (2009)
Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family. (PubMed id 11162531)^{1, 3, 9} Fukuda S.... Kamiya K. (2001)
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. (PubMed id 19138766)^{1, 2} Yanagisawa A....Guicheney P. (2009)
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (PubMed id 17634419)^{1, 2} Yanagisawa A....Guicheney P. (2007)
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. (PubMed id 17923109)^{1, 2} Biancheri R....Bruno C. (2007)
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. (PubMed id 14699049)^{1, 2} Manya H.... Endo T. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 29954	HGNC: 19743	AceView: POMT2	Ensembl:ENSG00000009830	euGenes: HUgn29954
ECgene: POMT2	Kegg: 29954	H-InvDB: POMT2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for POMT2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POMT2
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/

Intellectual Property for POMT2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for POMT2 gene:
Search GeneIP for patents involving POMT2

GeneCards and IP:
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protein-O-mannosyltransferase 2

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