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

Gene ID: 221938, updated on 10-Oct-2020

Summary

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
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

Genomic context

See MMD2 in Genome Data Viewer
Location:
7p22.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (4892245..4959187, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (4931876..4998844, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Rap associating with DIL domain Neighboring gene ribosomal protein L22 pseudogene 16 Neighboring gene Sharpr-MPRA regulatory region 4159 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: RADIL

Homology

Clone Names

  • FLJ37205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001100600.2NP_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
    Q8IY49
    Related
    ENSP00000384690.3, ENST00000404774.7
    Conserved Domains (1) summary
    cl03831
    Location:34258
    HlyIII; Haemolysin-III related
  2. NM_001270375.2NP_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:34186
    HlyIII; Haemolysin-III related
  3. NM_198403.4NP_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, ENST00000401401.7
    Conserved Domains (1) summary
    cl03831
    Location:34234
    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: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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