RETREG2 reticulophagy regulator family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RETREG2provided by HGNC
Official Full Name: reticulophagy regulator family member 2provided by HGNC
Primary source: HGNC:HGNC:28450
See related: Ensembl:ENSG00000144567 AllianceGenome:HGNC:28450
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
Also known as: MAG-2; C2orf17; FAM134A
Summary: Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Predicted to be involved in autophagy. Predicted to act upstream of or within collagen catabolic process; endoplasmic reticulum organization; and reticulophagy. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 39.6), brain (RPKM 29.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219178275..219185475)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219666703..219673910)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220042997..220050197)

Chromosome 2 - NC_000002.12 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 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?

Depleting the endoplasmic reticulum-localized protein FAM134A impairs mitotic progression by affecting metaphase plate alignment and pressure generation by delocalizing cortical myosin II.
Title: Genome-scale single-cell mechanical phenotyping reveals disease-related genes involved in mitotic rounding.
MAG-2 may be a novel causal gene for lung cancer invasion and metastasis.
Title: MAG-2 promotes invasion, mobility and adherence capability of lung cancer cells by MMP-2, CD44 and intracellular calcium in vitro.

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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

RH66353 (e-PCR)
- UniSTS:12120

IB2434 (e-PCR)
- UniSTS:44632

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endoplasmic reticulum-autophagosome adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen catabolic process	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in reticulophagy	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: reticulophagy regulator 2

Names: family with sequence similarity 134 member A; metastasis associated gene-2; protein FAM134A

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.