Aliases for RETREG2 Gene

Aliases for RETREG2 Gene

  • Reticulophagy Regulator Family Member 2 2 3 5
  • Family With Sequence Similarity 134 Member A 2 3
  • Reticulophagy Regulator 2 3 4
  • C2orf17 3 4
  • FAM134A 3 4
  • MAG-2 2 3
  • Family With Sequence Similarity 134, Member A 2
  • Chromosome 2 Open Reading Frame 17 2
  • Metastasis Associated Gene-2 3
  • Protein FAM134A 3
  • RETREG2 5
  • MGC3035 2
  • MAG2 4

External Ids for RETREG2 Gene

Previous HGNC Symbols for RETREG2 Gene

  • C2orf17
  • FAM134A

Summaries for RETREG2 Gene

GeneCards Summary for RETREG2 Gene

RETREG2 (Reticulophagy Regulator Family Member 2) is a Protein Coding gene. Diseases associated with RETREG2 include Neuropathy, Hereditary Sensory And Autonomic, Type Iib and Neuropathy, Hereditary Sensory And Autonomic, Type Iia.

Additional gene information for RETREG2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RETREG2 Gene

Genomics for RETREG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RETREG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RETREG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RETREG2

Genomic Locations for RETREG2 Gene

Genomic Locations for RETREG2 Gene
chr2:219,176,225-219,185,475
(GRCh38/hg38)
Size:
9,251 bases
Orientation:
Plus strand
chr2:220,040,947-220,050,201
(GRCh37/hg19)
Size:
9,255 bases
Orientation:
Plus strand

Genomic View for RETREG2 Gene

Genes around RETREG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RETREG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RETREG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RETREG2 Gene

Proteins for RETREG2 Gene

  • Protein details for RETREG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NC44-RETR2_HUMAN
    Recommended name:
    Reticulophagy regulator 2
    Protein Accession:
    Q8NC44
    Secondary Accessions:
    • Q6P1P5
    • Q9H0K7

    Protein attributes for RETREG2 Gene

    Size:
    543 amino acids
    Molecular mass:
    57830 Da
    Quaternary structure:
    • Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, GABARAP, and GABARAPL1.

    Three dimensional structures from OCA and Proteopedia for RETREG2 Gene

neXtProt entry for RETREG2 Gene

Post-translational modifications for RETREG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RETREG2 Gene

Domains & Families for RETREG2 Gene

Gene Families for RETREG2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RETREG2 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for RETREG2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM134A (F134A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NC44

UniProtKB/Swiss-Prot:

RETR2_HUMAN :
  • The LIR motif interacts with ATG8 family proteins.
  • Belongs to the RETREG family.
Domain:
  • The LIR motif interacts with ATG8 family proteins.
Family:
  • Belongs to the RETREG family.
genes like me logo Genes that share domains with RETREG2: view

Function for RETREG2 Gene

Phenotypes From GWAS Catalog for RETREG2 Gene

Gene Ontology (GO) - Molecular Function for RETREG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21900206
genes like me logo Genes that share ontologies with RETREG2: view
genes like me logo Genes that share phenotypes with RETREG2: view

miRNA for RETREG2 Gene

miRTarBase miRNAs that target RETREG2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RETREG2 Gene

Localization for RETREG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RETREG2 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RETREG2 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RETREG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with RETREG2: view

Pathways & Interactions for RETREG2 Gene

PathCards logo

SuperPathways for RETREG2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RETREG2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RETREG2 Gene

Drugs & Compounds for RETREG2 Gene

No Compound Related Data Available

Transcripts for RETREG2 Gene

mRNA/cDNA for RETREG2 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for RETREG2 Gene

No ASD Table

Relevant External Links for RETREG2 Gene

GeneLoc Exon Structure for
RETREG2

Expression for RETREG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RETREG2

Evidence on tissue expression from TISSUES for RETREG2 Gene

  • Nervous system(4.4)
  • Liver(4.4)
  • Skin(4.4)
  • Blood(4.3)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with RETREG2: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RETREG2 Gene

Orthologs for RETREG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RETREG2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM134A 30 31
  • 99.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM134A 30
  • 90.49 (n)
C2ORF17 31
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM134A 30 31
  • 89.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam134a 30
  • 88.64 (n)
Mouse
(Mus musculus)
Mammalia Fam134a 30 31
  • 87.69 (n)
OneToOne
Retreg2 17
Oppossum
(Monodelphis domestica)
Mammalia FAM134A 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 31 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves FAM134A 30 31
  • 67.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM134A 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam134a 30
  • 61.87 (n)
Str.17191 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13426 30
Zebrafish
(Danio rerio)
Actinopterygii fam134a 30 31
  • 61.88 (n)
OneToOne
Species where no ortholog for RETREG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RETREG2 Gene

ENSEMBL:
Gene Tree for RETREG2 (if available)
TreeFam:
Gene Tree for RETREG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RETREG2: view image

Paralogs for RETREG2 Gene

No data available for Paralogs for RETREG2 Gene

Variants for RETREG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RETREG2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs3210652 - p.Arg374His
rs3731900 - p.Pro419Gln

Additional dbSNP identifiers (rs#s) for RETREG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RETREG2 Gene

Variant ID Type Subtype PubMed ID
esv3893555 CNV loss 25118596
nsv3170 CNV deletion 18451855
nsv508200 CNV deletion 20534489

Variation tolerance for RETREG2 Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.39; 88.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RETREG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RETREG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RETREG2 Gene

Disorders for RETREG2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RETREG2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RETREG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RETREG2 Gene

Publications for RETREG2 Gene

  1. Genome-scale single-cell mechanical phenotyping reveals disease-related genes involved in mitotic rounding. (PMID: 29097687) Toyoda Y … Müller DJ (Nature communications 2017) 2 3
  2. Regulation of endoplasmic reticulum turnover by selective autophagy. (PMID: 26040720) Khaminets A … Dikic I (Nature 2015) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for RETREG2 Gene

Sources for RETREG2 Gene