Aliases for MGAM2 Gene

Aliases for MGAM2 Gene

  • Maltase-Glucoamylase 2 (Putative) 2 3 5
  • Putative Maltase-Glucoamylase-Like Protein FLJ16351 3 3
  • Maltase-Glucoamylase (Alpha-Glucosidase) Pseudogene 4
  • Maltase-Glucoamylase (Alpha-Glucosidase) 3
  • Probable Maltase-Glucoamylase 2 4
  • MGAM2 5

External Ids for MGAM2 Gene

Previous GeneCards Identifiers for MGAM2 Gene

  • GC07P142620
  • GC07P142932
  • GC07P144255
  • GC07P144397
  • GC07P144565
  • GC07P144807
  • GC07P143076
  • GC07P143226
  • GC07P143422
  • GC07P143572
  • GC07P143721
  • GC07P143848
  • GC07P143989
  • GC07P144112
  • GC07P145054
  • GC07P145340

Summaries for MGAM2 Gene

GeneCards Summary for MGAM2 Gene

MGAM2 (Maltase-Glucoamylase 2 (Putative)) is a Protein Coding gene. Among its related pathways are Galactose metabolism and Carbohydrate digestion and absorption. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucan 1,4-alpha-glucosidase activity. An important paralog of this gene is MGAM.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MGAM2 Gene

Genomics for MGAM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MGAM2 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
GH07J142110 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 259.7 +0.6 554 2.6 NFE2 CTCF ZSCAN4 MGAM2 NONHSAG048989.2 PRSS58
GH07J142104 Enhancer 0.9 FANTOM5 ENCODE 10 -6.6 -6554 2 CEBPA THAP11 FOXA2 KDM6A SAP130 RARA TEAD3 NFE2 CREM FOXP1 TAS2R38 CLEC5A MGAM2 HSALNG0061874 HSALNG0061873 MGAM
GH07J142119 Enhancer 0.5 Ensembl ENCODE 9.5 +9.0 9009 1.7 FOS BACH1 MGAM2 NONHSAG048989.2 PRSS58
GH07J142030 Enhancer 0.5 Ensembl 5.9 -80.8 -80802 2.2 CUX1 CTCF SPI1 CREB1 CEBPB RAD21 HLF FOS CLEC5A TAS2R38 MGAM2 piR-40666-026 HSALNG0061873 MGAM
GH07J142097 Enhancer 0.3 Ensembl 8.3 -13.6 -13602 1 CEBPA HLF MGAM2 EPHB6 HSALNG0061874 HSALNG0061873 TAS2R38 MGAM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MGAM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MGAM2

Genomic Locations for MGAM2 Gene

Latest Assembly
chr7:142,111,703-142,223,733
(GRCh38/hg38)
Size:
112,031 bases
Orientation:
Plus strand

Previous Assembly
chr7:141,811,518-141,922,124
(GRCh37/hg19 by Entrez Gene)
Size:
110,607 bases
Orientation:
Plus strand

chr7:141,811,549-141,922,124
(GRCh37/hg19 by Ensembl)
Size:
110,576 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr7(ALT_REF_LOCI_1):73,598-184,204 (+)

Genomic View for MGAM2 Gene

Genes around MGAM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAM2 Gene

Proteins for MGAM2 Gene

  • Protein details for MGAM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M2H8-MGAL_HUMAN
    Recommended name:
    Probable maltase-glucoamylase 2
    Protein Accession:
    Q2M2H8
    Secondary Accessions:
    • A4D2I3
    • C9JNC2

    Protein attributes for MGAM2 Gene

    Size:
    2515 amino acids
    Molecular mass:
    277990 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MGAM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MGAM2 Gene

Post-translational modifications for MGAM2 Gene

  • Glycosylation at Asn167, Asn421, Asn613, and Asn2249
  • Modification sites at PhosphoSitePlus

Other Protein References for MGAM2 Gene

No data available for DME Specific Peptides for MGAM2 Gene

Domains & Families for MGAM2 Gene

Gene Families for MGAM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q2M2H8

UniProtKB/Swiss-Prot:

MGAL_HUMAN :
  • Belongs to the glycosyl hydrolase 31 family.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with MGAM2: view

No data available for Suggested Antigen Peptide Sequences for MGAM2 Gene

Function for MGAM2 Gene

Molecular function for MGAM2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose.; EC=3.2.1.3;.

Phenotypes From GWAS Catalog for MGAM2 Gene

Gene Ontology (GO) - Molecular Function for MGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004339 glucan 1,4-alpha-glucosidase activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IBA --
GO:0004558 alpha-1,4-glucosidase activity IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MGAM2: view
genes like me logo Genes that share phenotypes with MGAM2: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MGAM2 Gene

Localization for MGAM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAM2 Gene

Membrane. Single-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 MGAM2 gene
Compartment Confidence
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MGAM2: view

Pathways & Interactions for MGAM2 Gene

genes like me logo Genes that share pathways with MGAM2: view

Pathways by source for MGAM2 Gene

Interacting Proteins for MGAM2 Gene

Gene Ontology (GO) - Biological Process for MGAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with MGAM2: view

No data available for SIGNOR curated interactions for MGAM2 Gene

Drugs & Compounds for MGAM2 Gene

No Compound Related Data Available

Transcripts for MGAM2 Gene

mRNA/cDNA for MGAM2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAM2

Alternative Splicing Database (ASD) splice patterns (SP) for MGAM2 Gene

No ASD Table

Relevant External Links for MGAM2 Gene

GeneLoc Exon Structure for
MGAM2

Expression for MGAM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MGAM2 Gene

Protein differential expression in normal tissues from HIPED for MGAM2 Gene

This gene is overexpressed in Fetal gut (37.4) and Urine (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MGAM2 Gene



Protein tissue co-expression partners for MGAM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MGAM2

genes like me logo Genes that share expression patterns with MGAM2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAM2 Gene

Orthologs for MGAM2 Gene

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

Orthologs for MGAM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 30
  • 99 (a)
OneToMany
-- 30
  • 1 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 32 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 25 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 8 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 1 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 15 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 15 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii CABZ01079192.1 30
  • 14 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROT2 30
  • 8 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 10 (a)
OneToMany
Species where no ortholog for MGAM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MGAM2 Gene

ENSEMBL:
Gene Tree for MGAM2 (if available)
TreeFam:
Gene Tree for MGAM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MGAM2: view image
Alliance of Genome Resources:
Additional Orthologs for MGAM2

Paralogs for MGAM2 Gene

Paralogs for MGAM2 Gene

genes like me logo Genes that share paralogs with MGAM2: view

Variants for MGAM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MGAM2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs73547308 Uncertain Significance: Hirschsprung disease 142,167,474(+) G/T
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MGAM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MGAM2 Gene

Variant ID Type Subtype PubMed ID
esv2759568 CNV gain+loss 17122850
esv33962 CNV gain+loss 17666407
esv34021 CNV loss 18971310
nsv1035111 CNV gain 25217958
nsv1132655 CNV duplication 24896259
nsv1153748 CNV duplication 26484159
nsv465131 CNV loss 19166990
nsv475154 CNV novel sequence insertion 20440878
nsv608590 CNV gain 21841781
nsv608591 CNV gain 21841781

Additional Variant Information for MGAM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAM2
Leiden Open Variation Database (LOVD)
MGAM2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MGAM2 Gene

Disorders for MGAM2 Gene

Additional Disease Information for MGAM2

No disorders were found for MGAM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MGAM2 Gene

Publications for MGAM2 Gene

  1. A draft map of the human proteome. (PMID: 24870542) Kim MS … Pandey A (Nature 2014) 2 3
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  3. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. (PMID: 31343991) Wang P … Xiong Y (The Journal of clinical investigation 2019) 3
  4. Gain of Additional BIRC3 Protein Functions through 3'-UTR-Mediated Protein Complex Formation. (PMID: 30948266) Lee SH … Mayr C (Molecular cell 2019) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for MGAM2 Gene

Sources for MGAM2 Gene