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    MGAM2 maltase-glucoamylase 2 (putative) [ Homo sapiens (human) ]

    Gene ID: 93432, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MGAM2provided by HGNC
    Official Full Name
    maltase-glucoamylase 2 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:28101
    See related
    Ensembl:ENSG00000257743 AllianceGenome:HGNC:28101
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable alpha-1,4-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in duodenum (RPKM 13.7), small intestine (RPKM 11.0) and 5 other tissues See more
    Orthologs
    all
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    Genomic context

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    See MGAM2 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142111718..142222324)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (143426769..143537371)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (141811518..141922124)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene taste 2 receptor member 38 Neighboring gene NANOG hESC enhancer GRCh37_chr7:141695377-141695878 Neighboring gene maltase-glucoamylase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:141895891-141897090 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:141945363-141946562 Neighboring gene monooxygenase DBH like 2, pseudogene Neighboring gene serine protease 58

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A draft map of the human proteome. Kim MS, et al. Nature, 2014 May 29. PMID 24870542, Free PMC Article
    2. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    4. Gain of Additional BIRC3 Protein Functions through 3'-UTR-Mediated Protein Complex Formation. Lee SH, et al. Mol Cell, 2019 May 16. PMID 30948266, Free PMC Article
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16351, MGC138178, MGC138180

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-1,4-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glucan 1,4-alpha-glucosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    probable maltase-glucoamylase 2
    Names
    Putative maltase-glucoamylase-like protein FLJ16351
    maltase-glucoamylase (alpha-glucosidase)
    maltase-glucoamylase (alpha-glucosidase) pseudogene
    NP_001280555.1
    XP_011514994.1
    XP_011514995.1
    XP_011514996.1
    XP_024302765.1
    XP_054184683.1
    XP_054184684.1
    XP_054184685.1
    XP_054184686.1
    XP_054215304.1
    XP_054215305.1
    XP_054215306.1
    XP_054215307.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001293626.2 → NP_001280555.1  probable maltase-glucoamylase 2

      See identical proteins and their annotated locations for NP_001280555.1

      Status: VALIDATED

      Source sequence(s)
      AC091742
      Consensus CDS
      CCDS78281.1
      UniProtKB/Swiss-Prot
      A4D2I3, C9JNC2, Q2M2H8
      Related
      ENSP00000420449.3, ENST00000477922.4
      Conserved Domains (7) summary
      PHA03255
      Location:1819 → 1965
      PHA03255; BDLF3; Provisional
      smart00018
      Location:908 → 948
      PD; P or trefoil or TFF domain
      cd14752
      Location:207 → 323
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam05109
      Location:1895 → 2410
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam00088
      Location:43 → 87
      Trefoil; Trefoil (P-type) domain
      pfam01055
      Location:304 → 769
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:104 → 215
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      142111718..142222324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446997.2 → XP_024302765.1  probable maltase-glucoamylase 2 isoform X4

      Conserved Domains (6) summary
      smart00018
      Location:908 → 948
      PD; P or trefoil or TFF domain
      cd14752
      Location:207 → 323
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:43 → 86
      Trefoil; Trefoil (P-type) domain
      pfam01055
      Location:304 → 769
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:104 → 214
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
      cl25582
      Location:1171 → 1229
      Glyco_hydro_31; Glycosyl hydrolases family 31

    2. XM_011516692.3 → XP_011514994.1  probable maltase-glucoamylase 2 isoform X1

      See identical proteins and their annotated locations for XP_011514994.1

      Conserved Domains (6) summary
      PHA03255
      Location:1549 → 1695
      PHA03255; BDLF3; Provisional
      cd06602
      Location:53 → 410
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:806 → 920
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:637 → 678
      Trefoil; Trefoil (P-type) domain
      pfam01055
      Location:34 → 499
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:721 → 813
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    3. XM_011516693.3 → XP_011514995.1  probable maltase-glucoamylase 2 isoform X2

      See identical proteins and their annotated locations for XP_011514995.1

      Conserved Domains (5) summary
      smart00018
      Location:53 → 93
      PD; P or trefoil or TFF domain
      PRK10856
      Location:1037 → 1110
      PRK10856; cytoskeleton protein RodZ
      cd06602
      Location:335 → 726
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:221 → 335
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam05109
      Location:1204 → 1613
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    4. XM_011516694.3 → XP_011514996.1  probable maltase-glucoamylase 2 isoform X3

      See identical proteins and their annotated locations for XP_011514996.1

      Conserved Domains (2) summary
      cd06602
      Location:1 → 343
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      pfam01055
      Location:1 → 433
      Glyco_hydro_31; Glycosyl hydrolases family 31

    RNA

    1. XR_927547.3 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      73598..184204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328711.1 → XP_054184686.1  probable maltase-glucoamylase 2 isoform X4

    2. XM_054328708.1 → XP_054184683.1  probable maltase-glucoamylase 2 isoform X1

    3. XM_054328709.1 → XP_054184684.1  probable maltase-glucoamylase 2 isoform X2

    4. XM_054328710.1 → XP_054184685.1  probable maltase-glucoamylase 2 isoform X3

    RNA

    1. XR_008485611.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      143426769..143537371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359332.1 → XP_054215307.1  probable maltase-glucoamylase 2 isoform X4

    2. XM_054359329.1 → XP_054215304.1  probable maltase-glucoamylase 2 isoform X1

    3. XM_054359330.1 → XP_054215305.1  probable maltase-glucoamylase 2 isoform X2

    4. XM_054359331.1 → XP_054215306.1  probable maltase-glucoamylase 2 isoform X3

    RNA

    1. XR_008487774.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_026640.1: Suppressed sequence

      Description
      NG_026640.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NM_001008748.2: Suppressed sequence

      Description
      NM_001008748.2: This RefSeq was suppressed temporarily because the source transcript appears to be partial (the encoded protein is not consistent with other maltases) and an alternate source was not identified.

    3. NR_003715.1: Suppressed sequence

      Description
      NR_003715.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.

    4. NR_003717.1: Suppressed sequence

      Description
      NR_003717.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M2H8.3 GenPept UniProtKB/Swiss-Prot:Q2M2H8

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