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Aliases for RETREG2 Gene

Aliases for RETREG2 Gene

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

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. An important paralog of this gene is RETREG3.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RETREG2 Gene

Genomics for RETREG2 Gene

Regulatory Elements for RETREG2 Gene

Enhancers for RETREG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G218962 1.7 FANTOM5 Ensembl ENCODE 11.1 -212.5 -212468 2.3 PKNOX1 MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF766 ZNF143 FOS ZNF263 RETREG2 CDK5R2 FEV PTPRN STK36 USP37 GC02P218963 LINC00608
GH02G219244 1.4 ENCODE dbSUPER 11.5 +73.9 73893 11.3 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 GLB1L ZFAND2B ATG9A ANKZF1 DNAJB2 TUBA4A MIR153-1 PTPRN ENSG00000230432 CNPPD1
GH02G219121 1.5 Ensembl ENCODE dbSUPER 10.3 -51.2 -51157 7.2 FOXA2 ATF1 ARID4B YBX1 TCF12 FOS SP5 KAT8 SREBF1 MIER3 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 CNPPD1 RETREG2
GH02G219308 1.3 Ensembl ENCODE 11.1 +132.7 132741 1.7 MLX ZFP64 ARID4B SIN3A ZNF48 SLC30A9 ZNF766 ZNF143 FOS SP3 GLB1L PTPRN RETREG2 ENSG00000230432
GH02G219541 1.2 ENCODE 11.1 +368.0 367965 5.1 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ASIC4 OBSL1 INHA RETREG2 CHPF ENSG00000268896
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RETREG2 on UCSC Golden Path with GeneCards custom track

Promoters for RETREG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000130512 1275 3001 HDGF HNRNPUL1 FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for RETREG2 Gene

Chromosome:
2
Start:
219,176,225 bp from pter
End:
219,185,479 bp from pter
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-F134A_HUMAN
    Recommended name:
    Protein FAM134A
    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.

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

Protein Domains for RETREG2 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for RETREG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NC44

UniProtKB/Swiss-Prot:

F134A_HUMAN :
  • The LIR motif interacts with ATG8 family proteins.
  • Belongs to the FAM134 family.
Domain:
  • The LIR motif interacts with ATG8 family proteins.
Family:
  • Belongs to the FAM134 family.
genes like me logo Genes that share domains with RETREG2: view

No data available for Gene Families for RETREG2 Gene

Function for RETREG2 Gene

Phenotypes for RETREG2 Gene

genes like me logo Genes that share phenotypes with RETREG2: view

Animal Model Products

miRNA for RETREG2 Gene

miRTarBase miRNAs that target RETREG2

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Gene Ontology (GO) - Cellular Components for RETREG2 Gene

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

Pathways & Interactions for RETREG2 Gene

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

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for RETREG2 Gene

GeneLoc Exon Structure for
RETREG2
ECgene alternative splicing isoforms for
RETREG2

Expression for RETREG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of RETREG2 Gene:

RETREG2

Evidence on tissue expression from TISSUES for RETREG2 Gene

  • Liver(4.3)
  • Skin(4.3)
  • Nervous system(4.3)
  • Blood(4.2)
  • Kidney(2)
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 34 35
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia FAM134A 34
  • 90.49 (n)
C2ORF17 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM134A 34 35
  • 89.62 (n)
rat
(Rattus norvegicus)
Mammalia Fam134a 34
  • 88.64 (n)
mouse
(Mus musculus)
Mammalia Fam134a 34 16 35
  • 87.69 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM134A 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 31 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM134A 34 35
  • 67.43 (n)
lizard
(Anolis carolinensis)
Reptilia FAM134A 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam134a 34
  • 61.87 (n)
Str.17191 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13426 34
zebrafish
(Danio rerio)
Actinopterygii fam134a 34 35
  • 61.88 (n)
Species where no ortholog for RETREG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for RETREG2 Gene

Paralogs for RETREG2 Gene

genes like me logo Genes that share paralogs with RETREG2: view

Variants for RETREG2 Gene

Sequence variations from dbSNP and Humsavar for RETREG2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000345599 -- 219,180,999(+) GACCA(A/G)TTGAA intron-variant
rs1000748974 -- 219,184,784(+) GGTCT(A/G)TTCTT downstream-variant-500B, utr-variant-3-prime
rs1001202666 -- 219,185,105(+) TACAG(A/G/T)TGTGA utr-variant-3-prime
rs1001287169 -- 219,180,975(+) CTACC(G/T)TCAGC intron-variant
rs1001401915 -- 219,181,945(+) CTTGA(A/T)CTCAT intron-variant

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)

Relevant External Links 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

Relevant External Links for RETREG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RETREG2

No disorders were found for RETREG2 Gene.

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

Publications for RETREG2 Gene

  1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for RETREG2 Gene

Sources for RETREG2 Gene

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