DERL2 derlin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DERL2provided by HGNC
Official Full Name: derlin 2provided by HGNC
Primary source: HGNC:HGNC:17943
See related: Ensembl:ENSG00000072849 MIM:610304; AllianceGenome:HGNC:17943
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: FLANa; F-LANa; CGI-101; F-LAN-1; derlin-2; DERtrin-2
Summary: Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (5471254..5486817, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (5364997..5380235, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (5374574..5389498, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

DERL2 (derlin 2) stabilizes BAG6 (BAG cochaperone 6) in chemotherapy resistance of cholangiocarcinoma.
Title: DERL2 (derlin 2) stabilizes BAG6 (BAG cochaperone 6) in chemotherapy resistance of cholangiocarcinoma.
Endoplasmic Reticulum-Associated Degradation Controls Virus Protein Homeostasis, Which Is Required for Flavivirus Propagation.
Title: Endoplasmic Reticulum-Associated Degradation Controls Virus Protein Homeostasis, Which Is Required for Flavivirus Propagation.
Derlin-2 is part of a protein quality control mechanism that can rescue glomerular injury attributable to impaired protein folding pathways in the endoplasmic reticulum.
Title: Podocytes exhibit a specialized protein quality control employing derlin-2 in kidney disease.
specific silencing of Derlin-2, p97 and HRD1 by shRNAs increases steady state levels of proinsulin. these ERAD constituents are critically involved in proinsulin degradation and may therefore also play a role in subsequent antigen generation.
Title: Proteasomal Degradation of Proinsulin Requires Derlin-2, HRD1 and p97.
derlin2 functions with HRD1 in ERAD of certain substrates independent of their glycosylation status.
Title: Derlin2 protein facilitates HRD1-mediated retro-translocation of sonic hedgehog at the endoplasmic reticulum.
Required for Polyoma virus infection.
Title: Murine polyomavirus requires the endoplasmic reticulum protein Derlin-2 to initiate infection.
Findings indicate that Derlin-2 provides the missing link between EDEM and p97 in the process of degrading misfolded glycoproteins.
Title: Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation.
Derlin-2 forms a robust multiprotein complex with the p97 AAA ATPase as well as the mammalian orthologs of the yeast Hrd1p/Hrd3p ubiquitin-ligase complex, and participates in the degradation of proteins from the ER.
Title: Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables signal recognition particle binding	IBA Inferred from Biological aspect of Ancestor more info
enables signal recognition particle binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: derlin-2

Names: Der1-like domain family, member 2; carcinoma related; degradation in endoplasmic reticulum protein 2

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.

mRNA and Protein(s)

NM_001304777.2 → NP_001291706.1 derlin-2 isoform b

See identical proteins and their annotated locations for NP_001291706.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.

Source sequence(s)

AC004148, BM675359, CN362881, HY051246

UniProtKB/TrEMBL

I3L0R8

Conserved Domains (1) summary

pfam04511
Location:13 → 202

DER1; Der1-like family
NM_001304779.2 → NP_001291708.1 derlin-2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks three alternate exons in the central coding region, resulting in a frameshift and a shorter 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is significantly shorter than isoform a.

Source sequence(s)

AC004148, AF242523, BM675359, BU199049, HY051246

Consensus CDS

CCDS76927.1

UniProtKB/TrEMBL

I3L3R8

Related

ENSP00000460671.1, ENST00000572834.5

Conserved Domains (1) summary

cl21536
Location:13 → 62

Rhomboid; Rhomboid family
NM_016041.5 → NP_057125.2 derlin-2 isoform a

See identical proteins and their annotated locations for NP_057125.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC004148, AF242523, BM675359, HY051246

Consensus CDS

CCDS11073.1

UniProtKB/Swiss-Prot

Q9GZP9, Q9Y3A7

UniProtKB/TrEMBL

I3L0R8

Related

ENSP00000158771.4, ENST00000158771.9

Conserved Domains (1) summary

pfam04511
Location:13 → 203

DER1; Der1-like family

RNA

NR_130905.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC004148, AF242523, BG110482, BM675359
NR_130906.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC004148, AF242523, BM675359, CN362882, HY051246