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RETREG3 reticulophagy regulator family member 3 [ Homo sapiens (human) ]

Gene ID: 162427, updated on 5-Sep-2025
Official Symbol
RETREG3provided by HGNC
Official Full Name
reticulophagy regulator family member 3provided by HGNC
Primary source
HGNC:HGNC:27258
See related
Ensembl:ENSG00000141699 MIM:616498; AllianceGenome:HGNC:27258
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
FAM134C
Summary
Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Involved in endoplasmic reticulum tubular network organization; positive regulation of neuron projection development; and reticulophagy. Located in endoplasmic reticulum tubular network. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Ubiquitous expression in testis (RPKM 16.0), skin (RPKM 14.1) and 25 other tissues See more
Orthologs
mouse all
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See RETREG3 in Genome Data Viewer
Location:
17q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42579508..42609427, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43436673..43466572, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40731526..40761445, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40719397-40719904 Neighboring gene Coenzyme A synthase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8538 Neighboring gene MAX dimerization protein MLX Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12210 Neighboring gene PSMC3 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12211 Neighboring gene tubulin gamma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12212 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2672 Neighboring gene ATP synthase membrane subunit g pseudogene 7

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy. Kumar D, et al. Mol Biol Cell, 2021 Jun 1. PMID 33826365, Free PMC Article
  2. Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons. Wang JL, et al. Gene, 2013 Oct 15. PMID 23939472
  3. Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control. Reggio A, et al. EMBO Rep, 2021 Sep 6. PMID 34338405, Free PMC Article
  4. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. Rommens JM, et al. Genomics, 1995 Aug 10. PMID 7490091
  5. Regulation of endoplasmic reticulum turnover by selective autophagy. Khaminets A, et al. Nature, 2015 Jun 18. PMID 26040720

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy.
    Title: RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy.
  2. We verified that NRF-1 positively regulates FAM134C and ENOX1, and negatively regulates C3orf10 in human neuroblastoma IMR-32 cells and primary rat cortical neurons.
    Title: Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33806

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 autophagy IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within collagen catabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
  
involved_in endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within reticulophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in reticulophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in reticulophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in substrate localization to autophagosome IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum tubular network IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
Preferred Names
reticulophagy regulator 3
Names
family with sequence similarity 134 member C
protein FAM134C

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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)

  1. NM_178126.4 → NP_835227.1  reticulophagy regulator 3

    See identical proteins and their annotated locations for NP_835227.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer, protein coding transcript.
    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS11432.1
    UniProtKB/Swiss-Prot
    B3KR75, Q86VR2
    Related
    ENSP00000309432.4, ENST00000309428.10
    Conserved Domains (1) summary
    pfam02453
    Location:60 → 210
    Reticulon; Reticulon

RNA

  1. NR_026697.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC067852
    Related
    ENST00000589797.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42579508..42609427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435503.1 → XP_047291459.1  reticulophagy regulator 3 isoform X1

    UniProtKB/TrEMBL
    K7EQI9
    Related
    ENSP00000467847.1, ENST00000585894.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43436673..43466572 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315270.1 → XP_054171245.1  reticulophagy regulator 3 isoform X1

    UniProtKB/TrEMBL
    K7EQI9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86VR2.1 GenPept UniProtKB/Swiss-Prot:Q86VR2

Gene LinkOut

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