MMP24-AS1-EDEM2 MMP24-AS1-EDEM2 readthrough [Homo sapiens (human)] - Gene

Summary

Gene symbol: MMP24-AS1-EDEM2
Gene description: MMP24-AS1-EDEM2 readthrough
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: This record represents naturally-occurring readthrough transcription between upstream GeneID:101410538 (MMP24 antisense RNA 1) and the ER degradation enhancing alpha-mannosidase like protein 2 (EDEM2) gene. Readthrough transcripts may encode proteins similar to those encoded by the EDEM2 gene. [provided by RefSeq, Aug 2017]
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Genomic context

Location:: 20q11.22

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (35115364..35278122, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (36836129..36998984, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (33703167..33865925, complement)

Chromosome 20 - NC_000020.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
NOT enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum mannose trimming	IBA Inferred from Biological aspect of Ancestor more info
involved_in mannoprotein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mannose trimming involved in glycoprotein ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of retrograde protein transport, ER to cytosol	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in viral protein processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum quality control compartment	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ER degradation-enhancing alpha-mannosidase-like protein 2

NP_001341937.1

EC 3.2.1.-

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_001355008.2 → NP_001341937.1 ER degradation-enhancing alpha-mannosidase-like protein 2

Status: VALIDATED

Source sequence(s)

AL121753, AL135844, AL356652

UniProtKB/TrEMBL

B4DQG9

Conserved Domains (1) summary

pfam01532
Location:1 → 439

Glyco_hydro_47; Glycosyl hydrolase family 47