Aliases for RETREG3 Gene
Aliases for RETREG3 Gene
External Ids for RETREG3 Gene
- HGNC: 27258
- Entrez Gene: 162427
- Ensembl: ENSG00000141699
- OMIM: 616498
- UniProtKB: Q86VR2
Previous HGNC Symbols for RETREG3 Gene
- FAM134C
Summaries for RETREG3 Gene
GeneCards Summary for RETREG3 Gene
RETREG3 (Reticulophagy Regulator Family Member 3) is a Protein Coding gene. Diseases associated with RETREG3 include Cortical Dysplasia, Complex, With Other Brain Malformations 4. An important paralog of this gene is RETREG1.
UniProtKB/Swiss-Prot for RETREG3 Gene
-
Mediates NRF1-enhanced neurite outgrowth.
Additional gene information for RETREG3 Gene
- Monarch Initiative
- Search for RETREG3 at DataMed
- Search for RETREG3 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RETREG3 Gene
Genomics for RETREG3 Gene
GeneHancer (GH) Regulatory Elements for RETREG3 Gene
Promoters and enhancers for RETREG3 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 RETREG3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for RETREG3 Gene
Genomic Locations for RETREG3 Gene
- chr17:42,579,508-42,610,623
- (GRCh38/hg38)
- Size:
- 31,116 bases
- Orientation:
- Minus strand
- chr17:40,731,526-40,762,641
- (GRCh37/hg19)
- Size:
- 31,116 bases
- Orientation:
- Minus strand
Genomic View for RETREG3 Gene
Genes around RETREG3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by Entrez Gene
- 17q21.2 by HGNC
- 17q21.2 by Ensembl
RETREG3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RETREG3 Gene
Proteins for RETREG3 Gene
-
Protein details for RETREG3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86VR2-RETR3_HUMAN
- Recommended name:
- Reticulophagy regulator 3
- Protein Accession:
- Q86VR2
- B3KR75
Protein attributes for RETREG3 Gene
- Size:
- 466 amino acids
- Molecular mass:
- 51396 Da
- Quaternary structure:
-
- Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, GABARAP, and GABARAPL1.
Post-translational modifications for RETREG3 Gene
Other Protein References for RETREG3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RETREG3
- Novus Biologicals Antibodies for RETREG3
-
Abcam antibodies for RETREG3
- Invitrogen Antibodies for RETREG3 (AFLGC-RETREG3)
- GeneTex RETREG3 Antibody for RETREG3
-
Biorbyt antibodies for RETREG3
Protein Products
-
OriGene Purified Proteins for RETREG3
- Search Origene for MassSpec and Protein Over-expression Lysates for RETREG3
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- Search GeneTex for Proteins for RETREG3
Assay Products
No data available for DME Specific Peptides for RETREG3 Gene
Domains & Families for RETREG3 Gene
Gene Families for RETREG3 Gene
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for RETREG3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q86VR2UniProtKB/Swiss-Prot:
RETR3_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.
Function for RETREG3 Gene
Molecular function for RETREG3 Gene
- UniProtKB/Swiss-Prot Function:
- Mediates NRF1-enhanced neurite outgrowth.
Phenotypes From GWAS Catalog for RETREG3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for RETREG3 Gene
- MGI mutant phenotypes for RETREG3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RETREG3:
Animal Models for RETREG3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RETREG3
-
CRISPR Products
-
OriGene CRISPR knockouts for RETREG3
- genomics-online: gRNA clones - Search results for 122 available FAM134C gene related products
- Overview of 122 available FAM134C gene related products
- Applied Biological Materials CRISPR for RETREG3
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for RETREG3
miRNA for RETREG3 Gene
- miRTarBase miRNAs that target RETREG3
-
- hsa-mir-98-5p (MIRT027640)
- hsa-mir-30b-5p (MIRT046148)
- hsa-mir-30c-5p (MIRT047994)
- hsa-mir-31-5p (MIRT049883)
- hsa-mir-8074 (MIRT477120)
- hsa-mir-6802-5p (MIRT477121)
- hsa-mir-874-5p (MIRT477122)
- hsa-mir-210-5p (MIRT477123)
- hsa-mir-4696 (MIRT477124)
- hsa-mir-548ax (MIRT477125)
- hsa-mir-548ao-5p (MIRT477126)
- hsa-mir-6815-5p (MIRT477127)
- hsa-mir-6865-5p (MIRT477128)
- hsa-mir-6507-5p (MIRT477129)
- hsa-mir-1285-3p (MIRT762215)
- hsa-mir-196a-3p (MIRT763509)
- hsa-mir-3187-5p (MIRT765318)
- hsa-mir-4738-3p (MIRT771832)
- hsa-mir-5189-5p (MIRT773568)
- hsa-mir-548g-3p (MIRT774392)
- hsa-mir-612 (MIRT775859)
- hsa-mir-6512-3p (MIRT776939)
- hsa-mir-661 (MIRT777455)
- hsa-mir-6720-5p (MIRT777785)
- hsa-mir-6860 (MIRT780567)
- hsa-mir-766-3p (MIRT781895)
- hsa-mir-939-3p (MIRT782834)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RETREG3
- Browse OriGene Inhibitory RNA Products For RETREG3
- genomics-online: shRNA clones - Search results for 122 available FAM134C gene related products
- Overview of 122 available FAM134C gene related products
Clone Products
- Sino Biological Human cDNA Clone for RETREG3
- Applied Biological Materials Clones for RETREG3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RETREG3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RETREG3 Gene
Localization for RETREG3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RETREG3 Gene
- Membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
- Cytosol (2)
- Nuclear membrane (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for RETREG3 Gene
No Data Available
Interacting Proteins for RETREG3 Gene
Selected Interacting proteins:
Q86VR2-RETR3_HUMAN
ENSP00000309432
for RETREG3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RETREG3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0010976 | positive regulation of neuron projection development | IMP,IEA | 23939472 |
No data available for Pathways by source and SIGNOR curated interactions for RETREG3 Gene
Transcripts for RETREG3 Gene
mRNA/cDNA for RETREG3 Gene
- (2) REFSEQ mRNAs :
- (255) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000589797 4149 bps (uc002iam.2)
- ENST00000309428 3759 bps (uc060fkv.1)
- ENST00000585894 1733 bps (uc010cyk.2)
- ENST00000586870 1632 bps (uc060fkw.1)
- ENST00000589007 571 bps (uc060fkx.1)
CRISPR Products
-
OriGene CRISPR knockouts for RETREG3
- genomics-online: gRNA clones - Search results for 122 available FAM134C gene related products
- Overview of 122 available FAM134C gene related products
- Applied Biological Materials CRISPR for RETREG3
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for RETREG3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RETREG3
- Browse OriGene Inhibitory RNA Products For RETREG3
- genomics-online: shRNA clones - Search results for 122 available FAM134C gene related products
- Overview of 122 available FAM134C gene related products
Clone Products
- Sino Biological Human cDNA Clone for RETREG3
- Applied Biological Materials Clones for RETREG3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RETREG3 Gene
NURSA nuclear receptor signaling pathways regulating expression of RETREG3 Gene:
RETREG3Evidence on tissue expression from TISSUES for RETREG3 Gene
- Nervous system(4.9)
- Liver(4.2)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for RETREG3
-
OriGene qPCR primer pairs and template standards for RETREG3
- genomics-online: primer clones - Search results for 122 available FAM134C gene related products
- Overview of 122 available FAM134C gene related products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 RETREG3 Gene
Orthologs for RETREG3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAM134C 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FAM134C 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FAM134C 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fam134c 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Fam134c 34 33 |
|
OneToOne | |
| Retreg3 16 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | FAM134C 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAM134C 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAM134C 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FAM134C 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fam134c 33 |
|
||
| Str.6330 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.30959 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fam134c 34 33 |
|
OneToOne |
- Species where no ortholog for RETREG3 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 RETREG3 Gene
- ENSEMBL:
- Gene Tree for RETREG3 (if available)
- TreeFam:
- Gene Tree for RETREG3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RETREG3: view image
Paralogs for RETREG3 Gene
Variants for RETREG3 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs398123046 | pathogenic, Cortical dysplasia, complex, with other brain malformations 4 | 42,610,535(-) | A/G | upstream_transcript_variant | |
| rs369845244 | likely-benign, not specified | 42,609,689(-) | C/A/G/T | upstream_transcript_variant | |
| rs1064797220 | uncertain-significance, not provided | 42,609,733(-) | G/A | upstream_transcript_variant | |
| rs1000082779 | -- | 42,605,009(-) | G/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000205705 | -- | 42,589,285(-) | A/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv33998 | OTHER | inversion | 15654335 |
| nsv1064012 | CNV | gain | 25217958 |
| nsv1113874 | CNV | deletion | 24896259 |
| nsv1146669 | OTHER | inversion | 26484159 |
Residual Variation Intolerance Score:
27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.29;
40.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RETREG3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RETREG3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RETREG3 Gene
Disorders for RETREG3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cortical dysplasia, complex, with other brain malformations 4 |
|
|
Search RETREG3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RETREG3
No data available for UniProtKB/Swiss-Prot and Genatlas for RETREG3 Gene
Publications for RETREG3 Gene
- Regulation of endoplasmic reticulum turnover by selective autophagy. (PMID: 26040720) Khaminets A … Dikic I (Nature 2015) 3 4 58
- Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons. (PMID: 23939472) Wang JL … Huang AM (Gene 2013) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for RETREG3 Gene
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- Custom Antibody ServicesOriGene Antibodies for RETREG3
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- genomics-online: cdna clones - Search results for 122 available FAM134C gene related products
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- Overview of 122 available FAM134C gene related products
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- Overview of 122 available FAM134C gene related products
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- Overview of 122 available FAM134C gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for RETREG3
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- Biorbyt antibodies for RETREG3
Sources for RETREG3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt