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

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; 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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

A004U30 (e-PCR)
- UniSTS:44134

SHGC-106314 (e-PCR)
- UniSTS:181888

SHGC-55942 (e-PCR)
- UniSTS:17332

GDB:631802 (e-PCR)
- UniSTS:158429

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)

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
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
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

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