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] See more...

Aliases for POMT2 Gene

Aliases for POMT2 Gene

  • Protein O-Mannosyltransferase 2 2 3 5
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 2 3 4
  • Protein O-Mannosyl-Transferase 2 3 4
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 2
  • EC 2.4.1.109 4
  • LGMDR14 3
  • LGMD2N 3
  • MDDGA2 3
  • MDDGB2 3
  • MDDGC2 3

External Ids for POMT2 Gene

Previous GeneCards Identifiers for POMT2 Gene

  • GC14M075249
  • GC14M071558
  • GC14M075731
  • GC14M076811
  • GC14M077741
  • GC14M057907

Summaries for POMT2 Gene

Entrez Gene Summary for POMT2 Gene

  • 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]

GeneCards Summary for POMT2 Gene

POMT2 (Protein O-Mannosyltransferase 2) is a Protein Coding gene. Diseases associated with POMT2 include Muscular Dystrophy-Dystroglycanopathy , Type C, 2 and Muscular Dystrophy-Dystroglycanopathy , Type B, 2. Among its related pathways are Metabolism of proteins and Mannose type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include mannosyltransferase activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is POMT1.

UniProtKB/Swiss-Prot Summary for POMT2 Gene

  • 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 (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).

Gene Wiki entry for POMT2 Gene

Additional gene information for POMT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMT2 Gene

Genomics for POMT2 Gene

GeneHancer (GH) Regulatory Elements for POMT2 Gene

Promoters and enhancers for POMT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J077319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.6 -0.2 -191 3.4 RXRA ZBTB40 ZNF217 CTCF SIN3A TCF12 NRF1 POLR2G SP1 PHF8 GSTZ1 POMT2 HSALNG0102648 piR-33444 TMEM63C
GH14J077318 Promoter/Enhancer 0.7 Ensembl dbSUPER 506.4 +2.0 1983 0.6 DRAP1 ZNF614 ERF POMT2 GSTZ1 lnc-TMED8-1
GH14J077096 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +222.4 222354 4.5 RXRA EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G USF1 GTF2E2 CIPC ENSG00000259164 lnc-ZDHHC22-2 VIPAS39 GPATCH2L SNW1 POMT2 LINC02288 NONHSAG015538.2 piR-43429
GH14J076485 Enhancer 1.1 Ensembl CraniofacialAtlas 22.2 +834.6 834583 1 ZSCAN5C ZNF639 ZNF354C ZNF10 ZIC2 ZNF423 ZNF623 TRIM28 KLF7 ATF2 GPATCH2L VIPAS39 RPL22P2 IRF2BPL POMT2 IFT43 TTLL5 RF00017-1625 piR-48759-094 ESRRB
GH14J077299 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.4 +15.1 15058 12.7 CTCF ZSCAN5C NRF1 TCF12 JUND FOS ZNF10 CLOCK TCF7 FOXA1 VIPAS39 IRF2BPL GSTZ1 POMT2 ALKBH1 NGB MIR1260A ZDHHC22 ENSG00000201384 SAMD15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POMT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POMT2

Top Transcription factor binding sites by QIAGEN in the POMT2 gene promoter:
  • C/EBPalpha
  • HNF-3beta

Genomic Locations for POMT2 Gene

Genomic Locations for POMT2 Gene
chr14:77,274,956-77,320,884
(GRCh38/hg38)
Size:
45,929 bases
Orientation:
Minus strand
chr14:77,741,299-77,787,227
(GRCh37/hg19)
Size:
45,929 bases
Orientation:
Minus strand

Genomic View for POMT2 Gene

Genes around POMT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMT2 Gene

Proteins for POMT2 Gene

  • Protein details for POMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKY4-POMT2_HUMAN
    Recommended name:
    Protein O-mannosyl-transferase 2
    Protein Accession:
    Q9UKY4
    Secondary Accessions:
    • Q9NSG6
    • Q9P1W0
    • Q9P1W2

    Protein attributes for POMT2 Gene

    Size:
    750 amino acids
    Molecular mass:
    84214 Da
    Quaternary structure:
    • Interacts with POMT1.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=CAD62348.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for POMT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POMT2 Gene

Post-translational modifications for POMT2 Gene

  • N-glycosylated.
  • Glycosylation at Asn98, Asn330, Asn445, Asn528, and Asn583
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • POMT2_HUMAN (1665)

No data available for DME Specific Peptides for POMT2 Gene

Domains & Families for POMT2 Gene

Gene Families for POMT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for POMT2 Gene

Blocks:
  • MIR domain
  • Glycosyl transferase, family 39
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POMT2 Gene

GenScript: Design optimal peptide antigens:
  • Dolichyl-phosphate-mannose--protein mannosyltransferase 2 (POMT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKY4

UniProtKB/Swiss-Prot:

POMT2_HUMAN :
  • Belongs to the glycosyltransferase 39 family.
Family:
  • Belongs to the glycosyltransferase 39 family.
genes like me logo Genes that share domains with POMT2: view

Function for POMT2 Gene

Molecular function for POMT2 Gene

UniProtKB/Swiss-Prot 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 (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:17377, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:13546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137321; EC=2.4.1.109; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:53396, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:13547, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137323; EC=2.4.1.109; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro.

Enzyme Numbers (IUBMB) for POMT2 Gene

Phenotypes From GWAS Catalog for POMT2 Gene

Gene Ontology (GO) - Molecular Function for POMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IMP 28512129
GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POMT2: view
genes like me logo Genes that share phenotypes with POMT2: view

Human Phenotype Ontology for POMT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POMT2 Gene

MGI Knock Outs for POMT2:

Animal Model Products

miRNA for POMT2 Gene

Clone Products

  • Addgene plasmids for POMT2

No data available for Transcription Factor Targets and HOMER Transcription for POMT2 Gene

Localization for POMT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMT2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POMT2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
golgi apparatus 2
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POMT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POMT2 Gene

Pathways & Interactions for POMT2 Gene

genes like me logo Genes that share pathways with POMT2: view

UniProtKB/Swiss-Prot Q9UKY4-POMT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for POMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation IEA,TAS --
GO:0035269 protein O-linked mannosylation IMP 28512129
GO:0071712 ER-associated misfolded protein catabolic process IBA 21873635
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with POMT2: view

No data available for SIGNOR curated interactions for POMT2 Gene

Drugs & Compounds for POMT2 Gene

(4) Drugs for POMT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Calcium Approved Nutra 7884
Manganese Approved Nutra 51
dolichol phosphate Pharma Competitive, Inhibitor 0

(2) Additional Compounds for POMT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl phosphate D-mannose
  • Dolichol phosphate mannose
  • Dolichyl D-mannosyl phosphate
  • DPM
908211-94-9
genes like me logo Genes that share compounds with POMT2: view

Transcripts for POMT2 Gene

mRNA/cDNA for POMT2 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for POMT2

Alternative Splicing Database (ASD) splice patterns (SP) for POMT2 Gene

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: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24a · 24b · 24c · 24d
SP1: - - - - - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5:
SP6: - - - - -
SP7:
SP8:
SP9: - - -
SP10:
SP11:

Relevant External Links for POMT2 Gene

GeneLoc Exon Structure for
POMT2

Expression for POMT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POMT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POMT2 Gene

This gene is overexpressed in Adrenal (16.3), Frontal cortex (11.1), Liver (8.7), and Fetal Brain (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POMT2 Gene



Protein tissue co-expression partners for POMT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POMT2

SOURCE GeneReport for Unigene cluster for POMT2 Gene:

Hs.132989

mRNA Expression by UniProt/SwissProt for POMT2 Gene:

Q9UKY4-POMT2_HUMAN
Tissue specificity: Highly expressed in testis; detected at low levels in most tissues.

Evidence on tissue expression from TISSUES for POMT2 Gene

  • Nervous system(4.6)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POMT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with POMT2: view

No data available for mRNA differential expression in normal tissues for POMT2 Gene

Orthologs for POMT2 Gene

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

Orthologs for POMT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POMT2 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POMT2 31 30
  • 90.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POMT2 31 30
  • 89.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pomt2 17 31 30
  • 88.62 (n)
rat
(Rattus norvegicus)
Mammalia Pomt2 30
  • 88.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POMT2 31
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMT2 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves POMT2 31 30
  • 74.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMT2 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomt2 30
  • 65.09 (n)
zebrafish
(Danio rerio)
Actinopterygii pomt2 31 30
  • 66.13 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tw 31 30
  • 58.27 (n)
OneToOne
EG:34F3.7 32
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002674 30
  • 56.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMT2 31 30
  • 46.55 (n)
ManyToMany
PMT3 33 31
  • 33 (a)
PMT6 31
  • 32 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15829g 30
  • 46.24 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR290W 30
  • 45.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01648 30
  • 50.94 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ogm2 30
  • 45.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for POMT2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMT2 Gene

ENSEMBL:
Gene Tree for POMT2 (if available)
TreeFam:
Gene Tree for POMT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POMT2: view image

Paralogs for POMT2 Gene

Paralogs for POMT2 Gene

(2) SIMAP similar genes for POMT2 Gene using alignment to 6 proteins:

  • POMT2_HUMAN
  • G3V4X9_HUMAN
  • H0YJA9_HUMAN
  • H0YJJ4_HUMAN
  • H0YJK9_HUMAN
  • H0YJQ7_HUMAN
genes like me logo Genes that share paralogs with POMT2: view

Variants for POMT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POMT2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
644886 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 77,302,849(-) G/T MISSENSE_VARIANT
645110 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 77,301,221(-) G/A MISSENSE_VARIANT
646201 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 77,279,857(-) C/G MISSENSE_VARIANT
647612 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 77,306,359(-) T/C MISSENSE_VARIANT
648610 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 77,320,632(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for POMT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for POMT2 Gene

Variant ID Type Subtype PubMed ID
esv2748902 CNV deletion 23290073
nsv1361 CNV deletion 18451855
nsv952872 CNV deletion 24416366

Variation tolerance for POMT2 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POMT2 Gene

Human Gene Mutation Database (HGMD)
POMT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POMT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMT2 Gene

Disorders for POMT2 Gene

MalaCards: The human disease database

(38) MalaCards diseases for POMT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

POMT2_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An 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. {ECO:0000269 PubMed:15894594, ECO:0000269 PubMed:16701995, ECO:0000269 PubMed:17878207, ECO:0000269 PubMed:19138766, ECO:0000269 PubMed:22958903}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. {ECO:0000269 PubMed:17634419, ECO:0000269 PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]: 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. {ECO:0000269 PubMed:17878207, ECO:0000269 PubMed:17923109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POMT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POMT2: view

No data available for Genatlas for POMT2 Gene

Publications for POMT2 Gene

  1. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 4 23 41 54
  2. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PMID: 17878207) Godfrey C … Muntoni F (Brain : a journal of neurology 2007) 3 4 23 41 54
  3. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (PMID: 18513969) Messina S … Mercuri E (Neuromuscular disorders : NMD 2008) 3 23 41 54
  4. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (PMID: 15894594) van Reeuwijk J … van Bokhoven H (Journal of medical genetics 2005) 3 4 23 54
  5. Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. (PMID: 12460945) Willer T … Strahl S (Glycobiology 2002) 2 3 4 54

Products for POMT2 Gene

Sources for POMT2 Gene