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

Gene ID: 221938, updated on 5-Mar-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
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Genomic context

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Location:
7p22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (4892245..4959187, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5009495..5076475, complement)
105.20220307 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. MiR-1270 Suppresses the Malignant Progression of Breast Cancer via Targeting MMD2. Hu S, et al. J Healthc Eng, 2022. PMID 35345650, Free PMC Article
  4. 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
  5. PAQR10 and PAQR11 mediate Ras signaling in the Golgi apparatus. Jin T, et al. Cell Res, 2012 Apr. PMID 21968647, Free PMC Article

See all (16) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Potential readthrough

Included gene: RADIL

Homology

Clone Names

  • FLJ37205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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_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
    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

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