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

Gene ID: 23041, updated on 3-Apr-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 be involved in Golgi to endosome transport. Located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 6.3), ovary (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q14.1
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (62466826..62600476)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (62445625..62579294)
105.20220307 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
  • 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. 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
  4. 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
  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 (64) 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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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_2023_10

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

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