Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	91319
Gene name	Derlin 3
Gene symbol	DERL3
Synonyms (NCBI Gene)	C22orf14IZP6LLN2derlin-3
Chromosome	22
Chromosome location	22q11.23
Summary	The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be

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miRTarBase ID	miRNA	Experiments
MIRT933231	hsa-miR-1207-3p	CLIP-seq
MIRT933232	hsa-miR-1252	CLIP-seq
MIRT933233	hsa-miR-1257	CLIP-seq
MIRT933234	hsa-miR-1273f	CLIP-seq
MIRT933235	hsa-miR-143	CLIP-seq
MIRT933236	hsa-miR-1825	CLIP-seq
MIRT933237	hsa-miR-2110	CLIP-seq
MIRT933238	hsa-miR-3123	CLIP-seq
MIRT933239	hsa-miR-3202	CLIP-seq
MIRT933240	hsa-miR-3675-5p	CLIP-seq
MIRT933241	hsa-miR-3914	CLIP-seq
MIRT933242	hsa-miR-4271	CLIP-seq
MIRT933243	hsa-miR-4283	CLIP-seq
MIRT933244	hsa-miR-4447	CLIP-seq
MIRT933245	hsa-miR-4472	CLIP-seq
MIRT933246	hsa-miR-4489	CLIP-seq
MIRT933247	hsa-miR-4494	CLIP-seq
MIRT933248	hsa-miR-4525	CLIP-seq
MIRT933249	hsa-miR-4533	CLIP-seq
MIRT933250	hsa-miR-4676-5p	CLIP-seq
MIRT933251	hsa-miR-4708-5p	CLIP-seq
MIRT933252	hsa-miR-4709-3p	CLIP-seq
MIRT933253	hsa-miR-4715-3p	CLIP-seq
MIRT933254	hsa-miR-4724-5p	CLIP-seq
MIRT933255	hsa-miR-4725-3p	CLIP-seq
MIRT933256	hsa-miR-4770	CLIP-seq
MIRT933257	hsa-miR-4786-3p	CLIP-seq
MIRT933258	hsa-miR-4790-3p	CLIP-seq
MIRT933259	hsa-miR-512-3p	CLIP-seq
MIRT933260	hsa-miR-575	CLIP-seq
MIRT933261	hsa-miR-637	CLIP-seq
MIRT933262	hsa-miR-658	CLIP-seq
MIRT933263	hsa-miR-671-5p	CLIP-seq
MIRT933264	hsa-miR-2117	CLIP-seq
MIRT933265	hsa-miR-4273	CLIP-seq
MIRT2515479	hsa-miR-146b-3p	CLIP-seq
MIRT2515480	hsa-miR-1827	CLIP-seq
MIRT2515481	hsa-miR-4316	CLIP-seq
MIRT2515482	hsa-miR-4530	CLIP-seq
MIRT2515483	hsa-miR-4690-3p	CLIP-seq
MIRT2515484	hsa-miR-4699-5p	CLIP-seq
MIRT2515485	hsa-miR-4710	CLIP-seq
MIRT2515486	hsa-miR-488	CLIP-seq
MIRT2515482	hsa-miR-4530	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005047	Function	Signal recognition particle binding	IBA
GO:0005047	Function	Signal recognition particle binding	IDA	26565908
GO:0005047	Function	Signal recognition particle binding	IEA
GO:0005515	Function	Protein binding	IPI	16449189, 19135427, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16449189
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	22607976
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IDA	16449189
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	22607976
GO:0036503	Process	ERAD pathway	NAS	16449189
GO:0036503	Process	ERAD pathway	TAS	22013210
GO:0044877	Function	Protein-containing complex binding	IPI	26565908
GO:1904153	Process	Negative regulation of retrograde protein transport, ER to cytosol	IEA
GO:1904153	Process	Negative regulation of retrograde protein transport, ER to cytosol	IMP	25660456

MIM	HGNC	e!Ensembl
610305	14236	ENSG00000099958

Q96Q80

Protein name

Derlin-3 (Degradation in endoplasmic reticulum protein 3) (DERtrin-3) (Der1-like protein 3)

Protein function

Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoprotei

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04511	DER1	13 → 203	Der1-like family	Family

Tissue specificity

TISSUE SPECIFICITY: Unlike DERL1 and DERL2, restricted to several tissues. Expressed at high levels in placenta, pancreas, spleen and small intestine. {ECO:0000269|PubMed:16449189}.

Sequence

MAWQGLAAEFLQVPAVTRAYTAACVLTTAAVQLELLSPFQLYFNPHLVFRKFQVWRLVTN
FLFFGPLGFSFFFNMLFVFRYCRMLEEGSFRGRTADFVFMFLFGGVLMTLLGLLGSLFFL
GQALMAMLVYVWSRRSPRVRVNFFGLLTFQAPFLPWALMGFSLLLGNSILVDLLGIAVGH
IYYFLEDVFPNQPGGKRLLQTPGFLKLLLDAPAEDPNYLPLPEEQPGPHLPPPQQ

Sequence length

235

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20471517		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	1913607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28713959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28713959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1913607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15796966, 8402545		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	3585938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	11150606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	28433800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28713959	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	9398863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28713959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	3422215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11691785		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	2065307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19940266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36372158	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	36372158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24699711, 8646734, 9585616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	3422215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11284032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35935576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	9585616		★★★★★ ★☆☆☆☆ Found in Text Mining only

DERL3 (derlin 3)