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Aliases for POMT2 Gene

Aliases for POMT2 Gene

  • Protein O-Mannosyltransferase 2 2 3 5
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 2 3 4
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 2
  • Protein O-Mannosyl-Transferase 2 3
  • EC 2.4.1.109 4
  • 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 A, 2. Among its related pathways are Other types of O-glycan biosynthesis and O-linked glycosylation. GO annotations related to this gene include mannosyltransferase activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for POMT2 Gene

Additional gene information for POMT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMT2 Gene

Genomics for POMT2 Gene

Regulatory Elements for POMT2 Gene

Enhancers for POMT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H077021 2.3 VISTA FANTOM5 ENCODE dbSUPER 29.3 +286.5 286505 25 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF585B SNW1 ALKBH1 RPL22P2 VIPAS39 POMT2 IRF2BPL ZMYND19P1 GPATCH2L RPL21P10 CIPC
GH14H076767 1.4 Ensembl ENCODE dbSUPER 19.6 +552.4 552399 2 PKNOX1 ZFP64 BATF TCF12 RUNX3 CREM IKZF2 ZC3H11A REST ELF1 VIPAS39 SNW1 ZMYND19P1 ALKBH1 IRF2BPL GPATCH2L RPL22P2 POMT2 ENSG00000259081 VASH1
GH14H077371 1.1 Ensembl ENCODE 21.2 -52.0 -52041 3 PKNOX1 FOXA2 INSM2 ZNF366 FOS ATF7 RCOR1 RUNX3 IKZF2 MIXL1 TMED8 POMT2 GSTZ1 ENSG00000259081 AHSA1 VIPAS39 SAMD15 LOC100422225
GH14H077299 1 ENCODE dbSUPER 18.1 +20.3 20255 2 CTCF FOXA2 NFIB ARID4B RAD21 SMC3 ZNF143 NR2F6 ZNF654 NRF1 GSTZ1 POMT2 NGB MIR1260A ZDHHC22 ENSG00000201384 VIPAS39 AHSA1 CIPC PIR44060
GH14H077157 1.3 Ensembl ENCODE dbSUPER 13.3 +162.4 162351 1 MXI1 ZNF473 ZSCAN4 TSC22D4 ZIC2 FOSL1 ZFHX2 ZNF316 POLR2A ZBTB48 TMEM63C POMT2 ENSG00000201384 NGB NOXRED1 ZDHHC22 FAM204DP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POMT2 on UCSC Golden Path with GeneCards custom track

Promoters for POMT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071141 -216 2201 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF207 ZNF143 SP3

Genomic Location for POMT2 Gene

Chromosome:
14
Start:
77,274,956 bp from pter
End:
77,320,884 bp from pter
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.
    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, posLast=330330, posLast=445445, posLast=528528, and Asn583
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for POMT2 Gene

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 CatalyticActivity:
Dolichyl D-mannosyl phosphate + protein = dolichyl phosphate + O-D-mannosylprotein.
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.
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.

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:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA,IBA --
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

CRISPR Products

miRNA for POMT2 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POMT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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 IBA,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 IEA --
GO:0071712 ER-associated misfolded protein catabolic process IBA --
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
Manganese Approved Nutra 35
dolichol phosphate Pharma Competitive, Inhibitor 0
calcium Nutra 0
Magnesium Nutra 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
  • Dolichyl phosphate D-mannose
  • DPM
908211-94-9
genes like me logo Genes that share compounds with POMT2: view

Transcripts for POMT2 Gene

Unigene Clusters for POMT2 Gene

Protein-O-mannosyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POMT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
POMT2

Expression for POMT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for POMT2 Gene



Protein tissue co-expression partners for POMT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of POMT2 Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia POMT2 33 34
  • 90.62 (n)
cow
(Bos Taurus)
Mammalia POMT2 33 34
  • 89.91 (n)
mouse
(Mus musculus)
Mammalia Pomt2 33 16 34
  • 88.62 (n)
rat
(Rattus norvegicus)
Mammalia Pomt2 33
  • 88.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POMT2 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMT2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves POMT2 33 34
  • 74.34 (n)
lizard
(Anolis carolinensis)
Reptilia POMT2 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomt2 33
  • 65.09 (n)
zebrafish
(Danio rerio)
Actinopterygii pomt2 33 34
  • 66.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta tw 33 34
  • 58.27 (n)
EG:34F3.7 35
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002674 33
  • 56.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMT2 33 34 36
  • 46.55 (n)
PMT3 34
  • 33 (a)
ManyToMany
PMT6 34
  • 32 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15829g 33
  • 46.24 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR290W 33
  • 45.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01648 33
  • 50.94 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ogm2 33
  • 45.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for POMT2 Gene

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

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

No data available for Paralogs for POMT2 Gene

Variants for POMT2 Gene

Sequence variations from dbSNP and Humsavar for POMT2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs190285831 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] 77,288,777(+) CTAGT(C/G)GAATA nc-transcript-variant, reference, missense
rs200198778 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150], Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156] 77,278,764(+) GGAAG(C/T)AGTGG nc-transcript-variant, reference, missense
rs267606964 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156] 77,277,387(-) ACTCA(C/T)GGGAC nc-transcript-variant, reference, missense
rs267606965 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150] 77,291,380(-) CCCAG(G/T)TCACC nc-transcript-variant, reference, missense
rs267606966 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156] 77,301,169(-) TGTTG(A/G)CCTCT intron-variant, nc-transcript-variant, reference, missense

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)

Relevant External Links for POMT2 Gene

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

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

Disorders for POMT2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for POMT2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type c, 2
  • autosomal recessive limb-girdle muscular dystrophy type 2n
muscular dystrophy-dystroglycanopathy , type a, 2
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a2
muscular dystrophy-dystroglycanopathy , type b, 2
  • muscular dystrophy-dystroglycanopathy congenital with mental retardation b2
congenital muscular dystrophy with intellectual disability
  • cmd with intellectual disability
congenital muscular dystrophy with cerebellar involvement
  • cmd with cerebellar involvement
- elite association - COSMIC cancer census association via MalaCards
Search POMT2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for POMT2

Genetic Association Database (GAD)
POMT2
Human Genome Epidemiology (HuGE) Navigator
POMT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POMT2
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 22 45 60
  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 22 45 60
  3. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (PMID: 18513969) Messina S … Mercuri E (Neuromuscular disorders : NMD 2008) 3 22 45 60
  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 22 60
  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 60

Products for POMT2 Gene

Sources for POMT2 Gene

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