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

Gene ID: 93432, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
7q34
Exon count:
49
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142111718..142222324)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (143426769..143537371)
105.20220307 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)

Genotypes

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; putative maltase-glucoamylase-like protein FLJ16351
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_2023_10

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  putative maltase-glucoamylase-like protein FLJ16351 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  putative maltase-glucoamylase-like protein FLJ16351 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  putative maltase-glucoamylase-like protein FLJ16351 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  putative maltase-glucoamylase-like protein FLJ16351 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  putative maltase-glucoamylase-like protein FLJ16351 isoform X4

  2. XM_054328708.1 → XP_054184683.1  putative maltase-glucoamylase-like protein FLJ16351 isoform X1

  3. XM_054328709.1 → XP_054184684.1  putative maltase-glucoamylase-like protein FLJ16351 isoform X2

  4. XM_054328710.1 → XP_054184685.1  putative maltase-glucoamylase-like protein FLJ16351 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  putative maltase-glucoamylase-like protein FLJ16351 isoform X4

  2. XM_054359329.1 → XP_054215304.1  putative maltase-glucoamylase-like protein FLJ16351 isoform X1

  3. XM_054359330.1 → XP_054215305.1  putative maltase-glucoamylase-like protein FLJ16351 isoform X2

  4. XM_054359331.1 → XP_054215306.1  putative maltase-glucoamylase-like protein FLJ16351 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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