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    MMD2 monocyte to macrophage differentiation associated 2 [ Homo sapiens (human) ]

    Gene ID: 221938, updated on 9-Dec-2024

    Summary

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    Official Symbol
    MMD2provided by HGNC
    Official Full Name
    monocyte to macrophage differentiation associated 2provided by HGNC
    Primary source
    HGNC:HGNC:30133
    See related
    Ensembl:ENSG00000136297 MIM:614581; AllianceGenome:HGNC:30133
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAQR10
    Summary
    This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
    Expression
    Biased expression in brain (RPKM 13.3) and testis (RPKM 4.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See MMD2 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (4892245..4959187, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5009495..5076475, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (4931876..4998818, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Rap associating with DIL domain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4900904-4901516 Neighboring gene poly(A) polymerase beta Neighboring gene ribosomal protein L22 pseudogene 16 Neighboring gene Sharpr-MPRA regulatory region 4159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4922762-4923449 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5013544-5014142 Neighboring gene ring finger protein 216 pseudogene 1 Neighboring gene uncharacterized LOC105375134 Neighboring gene speedy/RINGO cell cycle regulator family member E19, pseudogene

    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. Identification of the topology and functional domains of PAQR10. Jin T, et al. Biochem J, 2012 May 1. PMID 22339580
    2. Mesenchymal stem cell derived hematopoietic cells are permissive to HIV-1 infection. Nazari-Shafti TZ, et al. Retrovirology, 2011 Jan 12. PMID 21226936, Free PMC Article
    3. Pancreatic expression and mitochondrial localization of the progestin-adipoQ receptor PAQR10. Góñez LJ, et al. Mol Med, 2008 Nov-Dec. PMID 18769639, Free PMC Article
    4. PAQR10 and PAQR11 mediate Ras signaling in the Golgi apparatus. Jin T, et al. Cell Res, 2012 Apr. PMID 21968647, Free PMC Article
    5. Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesis. Kang P, et al. Neuron, 2012 Apr 12. PMID 22500632, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Collectively, this study uncovers a new paradigm of spatial regulation of Ras signaling in the Golgi apparatus by PAQR10 and PAQR11.
      Title: PAQR10 and PAQR11 mediate Ras signaling in the Golgi apparatus.
    2. results of the present study indicate that Golgi localization is indispensable for PAQR10 to implement its regulatory functions in the Ras signalling cascade
      Title: Identification of the topology and functional domains of PAQR10.
    3. Genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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

    Potential readthrough

    Included gene: RADIL

    Homology

    Clone Names

    • FLJ37205

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    monocyte to macrophage differentiation factor 2
    Names
    monocyte-to-macrophage differentiation-associated protein 2
    progestin and adipoQ receptor family member 10
    progestin and adipoQ receptor family member X

    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_001100600.2 → NP_001094070.1  monocyte to macrophage differentiation factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001094070.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AY424288, BC037881, BC048346, BC067905
      Consensus CDS
      CCDS47529.1
      UniProtKB/Swiss-Prot
      B5MBW4, Q6NVU5, Q6TCH0, Q8IY49
      Related
      ENSP00000384690.3, ENST00000404774.7
      Conserved Domains (1) summary
      cl03831
      Location:34 → 258
      HlyIII; Haemolysin-III related

    2. NM_001270375.2 → NP_001257304.1  monocyte to macrophage differentiation factor 2 isoform 3

      See identical proteins and their annotated locations for NP_001257304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site as well as an alternate exon in the coding region compared to variant 1. It encodes isoform 3 which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AY424288, BC037881, BC048346
      Consensus CDS
      CCDS59047.1
      UniProtKB/Swiss-Prot
      Q8IY49
      Related
      ENSP00000385963.1, ENST00000406755.5
      Conserved Domains (1) summary
      cl03831
      Location:34 → 186
      HlyIII; Haemolysin-III related

    3. NM_198403.4 → NP_940685.3  monocyte to macrophage differentiation factor 2 isoform 2

      See identical proteins and their annotated locations for NP_940685.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AY424288, BC037881, BC048346, BC067905
      Consensus CDS
      CCDS47530.1
      UniProtKB/Swiss-Prot
      Q8IY49
      Related
      ENSP00000384141.3, ENST00000401401.8
      Conserved Domains (1) summary
      cl03831
      Location:34 → 234
      HlyIII; Haemolysin-III related

    RNA

    1. NR_072989.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC092610, AK094524, BC067905

    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
      4892245..4959187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      5009495..5076475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY49.2 GenPept UniProtKB/Swiss-Prot:Q8IY49

    Gene LinkOut

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

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