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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23024
Gene name	PDZ domain containing ring finger 3
Gene symbol	PDZRN3
Synonyms (NCBI Gene)	LNX3SEMACAP3SEMCAP3
Chromosome	3
Chromosome location	3p13
Summary	This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted f

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs747762087	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs748809996	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs778037798	A>G	Likely-pathogenic	Intron variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048113	hsa-miR-197-3p	CLASH	23622248
MIRT1224097	hsa-miR-136	CLIP-seq
MIRT1224098	hsa-miR-140-5p	CLIP-seq
MIRT1224099	hsa-miR-1537	CLIP-seq
MIRT1224100	hsa-miR-1827	CLIP-seq
MIRT1224101	hsa-miR-298	CLIP-seq
MIRT1224102	hsa-miR-3074-5p	CLIP-seq
MIRT1224103	hsa-miR-3124-3p	CLIP-seq
MIRT1224104	hsa-miR-3545-5p	CLIP-seq
MIRT1224105	hsa-miR-3663-3p	CLIP-seq
MIRT1224106	hsa-miR-3692	CLIP-seq
MIRT1224107	hsa-miR-3924	CLIP-seq
MIRT1224108	hsa-miR-4282	CLIP-seq
MIRT1224109	hsa-miR-4460	CLIP-seq
MIRT1224110	hsa-miR-4536	CLIP-seq
MIRT1224111	hsa-miR-486-5p	CLIP-seq
MIRT1224112	hsa-miR-940	CLIP-seq
MIRT2065333	hsa-miR-1912	CLIP-seq
MIRT2065334	hsa-miR-296-3p	CLIP-seq
MIRT2065335	hsa-miR-450b-5p	CLIP-seq
MIRT2065336	hsa-miR-518a-5p	CLIP-seq
MIRT2065337	hsa-miR-527	CLIP-seq
MIRT2065334	hsa-miR-296-3p	CLIP-seq
MIRT2591196	hsa-miR-1269	CLIP-seq
MIRT2591197	hsa-miR-1269b	CLIP-seq
MIRT2065333	hsa-miR-1912	CLIP-seq
MIRT2591198	hsa-miR-2682	CLIP-seq
MIRT2065334	hsa-miR-296-3p	CLIP-seq
MIRT2591199	hsa-miR-300	CLIP-seq
MIRT2591200	hsa-miR-3148	CLIP-seq
MIRT2591201	hsa-miR-34a	CLIP-seq
MIRT2591202	hsa-miR-34c-5p	CLIP-seq
MIRT2591203	hsa-miR-3676	CLIP-seq
MIRT2591204	hsa-miR-381	CLIP-seq
MIRT2591205	hsa-miR-4423-3p	CLIP-seq
MIRT2591206	hsa-miR-449a	CLIP-seq
MIRT2591207	hsa-miR-449b	CLIP-seq
MIRT2591208	hsa-miR-449c	CLIP-seq
MIRT2065335	hsa-miR-450b-5p	CLIP-seq
MIRT2591209	hsa-miR-4520b-3p	CLIP-seq
MIRT2591210	hsa-miR-4529-3p	CLIP-seq
MIRT2591211	hsa-miR-4666-3p	CLIP-seq
MIRT2065336	hsa-miR-518a-5p	CLIP-seq
MIRT2065337	hsa-miR-527	CLIP-seq
MIRT2591212	hsa-miR-548ae	CLIP-seq
MIRT2591213	hsa-miR-548aj	CLIP-seq
MIRT2591214	hsa-miR-548am	CLIP-seq
MIRT2591215	hsa-miR-548x	CLIP-seq
MIRT2591216	hsa-miR-599	CLIP-seq
MIRT1224112	hsa-miR-940	CLIP-seq
MIRT2591196	hsa-miR-1269	CLIP-seq
MIRT2591197	hsa-miR-1269b	CLIP-seq
MIRT2065333	hsa-miR-1912	CLIP-seq
MIRT2591198	hsa-miR-2682	CLIP-seq
MIRT2065334	hsa-miR-296-3p	CLIP-seq
MIRT2591201	hsa-miR-34a	CLIP-seq
MIRT2591202	hsa-miR-34c-5p	CLIP-seq
MIRT2591205	hsa-miR-4423-3p	CLIP-seq
MIRT2591206	hsa-miR-449a	CLIP-seq
MIRT2591207	hsa-miR-449b	CLIP-seq
MIRT2591208	hsa-miR-449c	CLIP-seq
MIRT2065335	hsa-miR-450b-5p	CLIP-seq
MIRT2591209	hsa-miR-4520b-3p	CLIP-seq
MIRT2591210	hsa-miR-4529-3p	CLIP-seq
MIRT2065336	hsa-miR-518a-5p	CLIP-seq
MIRT2065337	hsa-miR-527	CLIP-seq
MIRT2591216	hsa-miR-599	CLIP-seq
MIRT1224112	hsa-miR-940	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
609729	17704	ENSG00000121440

Q9UPQ7

Protein name

E3 ubiquitin-protein ligase PDZRN3 (EC 2.3.2.27) (Ligand of Numb protein X 3) (PDZ domain-containing RING finger protein 3) (RING-type E3 ubiquitin transferase PDZRN3) (Semaphorin cytoplasmic domain-associated protein 3) (Protein SEMACAP3)

Protein function

E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentia

PDB

1UHP , 1WH1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13923	zf-C3HC4_2	17 → 56		Domain
PF00595	PDZ	249 → 336	PDZ domain	Domain
PF00595	PDZ	419 → 501	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, including in the heart, skeletal muscle and liver and, at lower levels, in the brain, colon, small intestine, placenta and lung. Down-regulated in ovarian serous papillary tumors. {ECO:0000269|PubMed:10470851, ECO:000

Sequence

MGFELDRFDGDVDPDLKCALCHKVLEDPLTTPCGHVFCAGCVLPWVVQEGSCPARCRGRL
SAKELNHVLPLKRLILKLDIKCAYATRGCGRVVKLQQLPEHLERCDFAPARCRHAGCGQV
LLRRDVEAHMRDACDARPVGRCQEGCGLPLTHGEQRAGGHCCARALRAHNGALQARLGAL
HKALKKEALRAGKREKSLVAQLAAAQLELQMTALRYQKKFTEYSARLDSLSRCVAAPPGG
KGEETKSLTLVLHRDSGSLGFNIIGGRPSVDNHDGSSSEGIFVSKIVDSGPAAKEGGLQI
HDRIIEVNGRDLSRATHDQAVEAFKTAKEPIVVQVLRRTPRTKMFTPPSESQLVDTGTQT
DITFEHIMALTKMSSPSPPVLDPYLLPEEHPSAHEYYDPNDYIGDIHQEMDREELELEEV
DLYRMNSQDKLGLTVCYRTDDEDDIGIYISEIDPNSIAAKDGRIREGDRIIQINGIEVQN
REEAVALLTSEENKNFSLLIARPELQLDEGWMDDDRNDFLDDLHMDMLEEQHHQAMQFTA
SVLQQKKHDEDGGTTDTATILSNQHEKDSGVGRTDESTRNDESSEQENNGDDATASSNPL
AGQRKLTCSQDTLGSGDLPFSNESFISADCTDADYLGIPVDECERFRELLELKCQVKSAT
PYGLYYPSGPLDAGKSDPESVDKELELLNEELRSIELECLSIVRAHKMQQLKEQYRESWM
LHNSGFRNYNTSIDVRRHELSDITELPEKSDKDSSSAYNTGESCRSTPLTLEISPDNSLR
RAAEGISCPSSEGAVGTTEAYGPASKNLLSITEDPEVGTPTYSPSLKELDPNQPLESKER
RASDGSRSPTPSQKLGSAYLPSYHHSPYKHAHIPAHAQHYQSYMQLIQQKSAVEYAQSQM
SLVSMCKDLSSPTPSEPRMEWKVKIRSDGTRYITKRPVRDRLLRERALKIREERSGMTTD
DDAVSEMKMGRYWSKEERKQHLVKAKEQRRRREFMMQSRLDCLKEQQAADDRKEMNILEL
SHKKMMKKRNKKIFDNWMTIQELLTHGTKSPDGTRVYNSFLSVTTV

Sequence length

1066

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Childhood-onset schizophrenia	Likely pathogenic	rs748809996	RCV000202335
Short stature	Likely pathogenic	rs747762087, rs778037798	RCV000736215 RCV000736216

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35441736
Death	Associate	21546767
Diabetes Mellitus Type 2	Associate	21546767
Pancreatic Neoplasms	Associate	17912030
Uterine Cervical Neoplasms	Associate	35126951
Uterine Neoplasms	Associate	15785748

PDZRN3 (PDZ domain containing ring finger 3)