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    MON2 MON2 homolog, regulator of endosome-to-Golgi trafficking [ Homo sapiens (human) ]

    Gene ID: 23041, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MON2provided by HGNC
    Official Full Name
    MON2 homolog, regulator of endosome-to-Golgi traffickingprovided by HGNC
    Primary source
    HGNC:HGNC:29177
    See related
    Ensembl:ENSG00000061987 MIM:616822; AllianceGenome:HGNC:29177
    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 proton transmembrane transporter activity. Predicted to be involved in Golgi to endosome transport. Located in early endosome membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.3), ovary (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MON2 in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (62466826..62600476)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (62445625..62579294)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (62860606..62994256)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:62655414-62655914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:62655915-62656415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4606 Neighboring gene microRNA 6125 Neighboring gene ubiquitin specific peptidase 15 Neighboring gene MPRA-validated peak1750 silencer Neighboring gene RNA, U6 small nuclear 595, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:62828889-62829698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4607 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:62860763-62861262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:62862931-62863431 Neighboring gene MON2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 399, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:62995817-62996340 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:62996341-62996862 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:62996863-62997384 and GRCh37_chr12:62997385-62997906 Neighboring gene MIRLET7I host gene Neighboring gene long intergenic non-protein coding RNA 1465 Neighboring gene microRNA let-7i

    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 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. Mammalian Mon2/Ysl2 regulates endosome-to-Golgi trafficking but possesses no guanine nucleotide exchange activity toward Arl1 GTPase. Mahajan D, et al. Sci Rep, 2013 Nov 28. PMID 24285343, Free PMC Article
    2. MicroRNA-133a-5p inhibiting metastatic capacity of renal clear cell carcinoma through regulating MON2. Li P, et al. Eur Rev Med Pharmacol Sci, 2020 Jun. PMID 32572912
    3. Mon2, a relative of large Arf exchange factors, recruits Dop1 to the Golgi apparatus. Gillingham AK, et al. J Biol Chem, 2006 Jan 27. PMID 16301316
    4. The cellular factors Vps18 and Mon2 are required for efficient production of infectious HIV-1 particles. Tomita Y, et al. J Virol, 2011 Jun. PMID 21450827, Free PMC Article
    5. SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion. McGough IJ, et al. Nat Commun, 2018 Sep 13. PMID 30213940, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA-133a-5p inhibiting metastatic capacity of renal clear cell carcinoma through regulating MON2.
      Title: MicroRNA-133a-5p inhibiting metastatic capacity of renal clear cell carcinoma through regulating MON2.
    2. an evolutionary conserved MON2:DOPEY2:ATP9A complex is required for SNX3 retromer mediation of Wntless sorting and Wnt secretion
      Title: SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.
    3. Mon2 is involved in endosome-to-Golgi trafficking as its depletion accelerated the delivery of furin and CI-M6PR to Golgi after endocytosis.
      Title: Mammalian Mon2/Ysl2 regulates endosome-to-Golgi trafficking but possesses no guanine nucleotide exchange activity toward Arl1 GTPase.
    4. Depletion of hVps18 or hMon2 reduced the efficient production of infectious HIV-1 virions in human cells.
      Title: The cellular factors Vps18 and Mon2 are required for efficient production of infectious HIV-1 particles.
    5. Ysl2p represents an essential, evolutionarily conserved member of a network controlling direct binding and membrane docking of Ggas.
      Title: Yeast and human Ysl2p/hMon2 interact with Gga adaptors and mediate their subcellular distribution.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag The CA domain and the p6 domain of HIV-1 Gag and the N-terminal region (residues 1-410) of MON2 are required for the interaction between Gag and MON2 PubMed
    gag VPS18 and MON2 proteins are required for proper HIV-1 Gag localization to plasma membrane and the efficient production of infectious virions in human cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1040, MGC35493

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to endosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    protein MON2 homolog
    Names
    MON2 regulator of endosome-to-Golgi trafficking

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001278469.3 → NP_001265398.1  protein MON2 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' end that includes an in-frame stop codon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC026115, AL833066, BC151241, BU739072, DA125763
      Consensus CDS
      CCDS61177.1
      UniProtKB/TrEMBL
      B7ZM73
      Related
      ENSP00000447407.1, ENST00000546600.5
      Conserved Domains (4) summary
      pfam09324
      Location:872 → 931
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:212 → 379
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16206
      Location:934 → 1663
      Mon2_C; C-terminal region of Mon2 protein
      pfam16213
      Location:9 → 183
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    2. NM_001278470.2 → NP_001265399.1  protein MON2 homolog isoform 3

      See identical proteins and their annotated locations for NP_001265399.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC026115, BC136621, DA125763
      Consensus CDS
      CCDS61178.1
      UniProtKB/TrEMBL
      B7ZM73
      Related
      ENSP00000377249.2, ENST00000393629.6
      Conserved Domains (4) summary
      pfam09324
      Location:872 → 931
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:212 → 379
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16206
      Location:934 → 1702
      Mon2_C; C-terminal region of Mon2 protein
      pfam16213
      Location:9 → 183
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    3. NM_001278471.2 → NP_001265400.1  protein MON2 homolog isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site at the 3' end of an exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC026115, BC144309, DA125763
      Consensus CDS
      CCDS61175.1
      UniProtKB/TrEMBL
      B7ZM73
      Related
      ENSP00000449215.1, ENST00000552738.5
      Conserved Domains (4) summary
      pfam09324
      Location:849 → 908
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:212 → 379
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16206
      Location:911 → 1679
      Mon2_C; C-terminal region of Mon2 protein
      pfam16213
      Location:9 → 183
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    4. NM_001278472.2 → NP_001265401.1  protein MON2 homolog isoform 5

      See identical proteins and their annotated locations for NP_001265401.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC026115, BC144324, DA125763
      UniProtKB/TrEMBL
      B7ZM73
      Conserved Domains (4) summary
      pfam09324
      Location:800 → 859
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:140 → 307
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16206
      Location:862 → 1636
      Mon2_C; C-terminal region of Mon2 protein
      pfam16213
      Location:1 → 111
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    5. NM_015026.3 → NP_055841.2  protein MON2 homolog isoform 1

      See identical proteins and their annotated locations for NP_055841.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB017814, AC026115, AL834320, DA125763
      Consensus CDS
      CCDS31849.1
      UniProtKB/Swiss-Prot
      A5D8U7, A7E2Y0, B9EGP5, F8VWA6, F8W1Z6, Q7Z3U7, Q86TA2, Q8N3I5, Q8NAI0, Q8NHE2, Q9UPW1
      UniProtKB/TrEMBL
      B7ZM73
      Related
      ENSP00000377250.4, ENST00000393630.8
      Conserved Domains (4) summary
      pfam09324
      Location:872 → 931
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:212 → 379
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16206
      Location:934 → 1708
      Mon2_C; C-terminal region of Mon2 protein
      pfam16213
      Location:9 → 183
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      62466826..62600476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019045.2 → XP_016874534.1  protein MON2 homolog isoform X3

      UniProtKB/TrEMBL
      B7ZM73

    2. XM_047428542.1 → XP_047284498.1  protein MON2 homolog isoform X4

    3. XM_017019043.2 → XP_016874532.1  protein MON2 homolog isoform X3

      UniProtKB/TrEMBL
      B7ZM73

    4. XM_017019044.2 → XP_016874533.1  protein MON2 homolog isoform X3

      UniProtKB/TrEMBL
      B7ZM73

    5. XM_017019041.2 → XP_016874530.1  protein MON2 homolog isoform X1

      UniProtKB/TrEMBL
      A0A286YFF8, B7ZM73
      Related
      ENSP00000493462.1, ENST00000641654.1
      Conserved Domains (4) summary
      pfam09324
      Location:873 → 932
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:212 → 379
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16206
      Location:935 → 1709
      Mon2_C; C-terminal region of Mon2 protein
      pfam16213
      Location:9 → 183
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    6. XM_017019042.2 → XP_016874531.1  protein MON2 homolog isoform X2

      UniProtKB/TrEMBL
      B7ZM73

    7. XM_047428544.1 → XP_047284500.1  protein MON2 homolog isoform X5

    8. XM_047428543.1 → XP_047284499.1  protein MON2 homolog isoform X5

    9. XM_047428545.1 → XP_047284501.1  protein MON2 homolog isoform X6

    10. XM_017019046.2 → XP_016874535.1  protein MON2 homolog isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      62445625..62579294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371471.1 → XP_054227446.1  protein MON2 homolog isoform X3

    2. XM_054371473.1 → XP_054227448.1  protein MON2 homolog isoform X4

    3. XM_054371470.1 → XP_054227445.1  protein MON2 homolog isoform X3

    4. XM_054371472.1 → XP_054227447.1  protein MON2 homolog isoform X3

    5. XM_054371468.1 → XP_054227443.1  protein MON2 homolog isoform X1

      UniProtKB/TrEMBL
      A0A286YFF8

    6. XM_054371469.1 → XP_054227444.1  protein MON2 homolog isoform X2

    7. XM_054371475.1 → XP_054227450.1  protein MON2 homolog isoform X5

    8. XM_054371474.1 → XP_054227449.1  protein MON2 homolog isoform X5

    9. XM_054371476.1 → XP_054227451.1  protein MON2 homolog isoform X6

    10. XM_054371477.1 → XP_054227452.1  protein MON2 homolog isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z3U7.3 GenPept UniProtKB/Swiss-Prot:Q7Z3U7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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