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	11342
Gene name	Ring finger protein 13
Gene symbol	RNF13
Synonyms (NCBI Gene)	DEE73EIEE73RZF
Chromosome	3
Chromosome location	3q25.1
Summary	The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same prot

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1559980771	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1559980785	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant

163

Show/Hide all (163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027479	hsa-miR-98-5p	Microarray	19088304
MIRT449458	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT449457	hsa-miR-219b-3p	PAR-CLIP	22100165
MIRT449456	hsa-miR-219a-2-3p	PAR-CLIP	22100165
MIRT449455	hsa-miR-3160-3p	PAR-CLIP	22100165
MIRT449454	hsa-miR-4424	PAR-CLIP	22100165
MIRT449453	hsa-miR-1273e	PAR-CLIP	22100165
MIRT449458	hsa-miR-4680-3p	PAR-CLIP	22100165
MIRT449457	hsa-miR-219b-3p	PAR-CLIP	22100165
MIRT449456	hsa-miR-219a-2-3p	PAR-CLIP	22100165
MIRT449455	hsa-miR-3160-3p	PAR-CLIP	22100165
MIRT449454	hsa-miR-4424	PAR-CLIP	22100165
MIRT449453	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1309911	hsa-miR-103a	CLIP-seq
MIRT1309912	hsa-miR-107	CLIP-seq
MIRT1309913	hsa-miR-129-5p	CLIP-seq
MIRT1309914	hsa-miR-1298	CLIP-seq
MIRT1309915	hsa-miR-141	CLIP-seq
MIRT1309916	hsa-miR-200a	CLIP-seq
MIRT1309917	hsa-miR-216b	CLIP-seq
MIRT1309918	hsa-miR-219-2-3p	CLIP-seq
MIRT1309919	hsa-miR-22	CLIP-seq
MIRT1309920	hsa-miR-224	CLIP-seq
MIRT1309921	hsa-miR-2964a-3p	CLIP-seq
MIRT1309922	hsa-miR-29a	CLIP-seq
MIRT1309923	hsa-miR-29b	CLIP-seq
MIRT1309924	hsa-miR-29c	CLIP-seq
MIRT1309925	hsa-miR-3065-3p	CLIP-seq
MIRT1309926	hsa-miR-3120-3p	CLIP-seq
MIRT1309927	hsa-miR-3168	CLIP-seq
MIRT1309928	hsa-miR-3675-3p	CLIP-seq
MIRT1309929	hsa-miR-369-3p	CLIP-seq
MIRT1309930	hsa-miR-374c	CLIP-seq
MIRT1309931	hsa-miR-376c	CLIP-seq
MIRT1309932	hsa-miR-4310	CLIP-seq
MIRT1309933	hsa-miR-4426	CLIP-seq
MIRT1309934	hsa-miR-4524	CLIP-seq
MIRT1309935	hsa-miR-4647	CLIP-seq
MIRT1309936	hsa-miR-4652-3p	CLIP-seq
MIRT1309937	hsa-miR-4662b	CLIP-seq
MIRT1309938	hsa-miR-4684-5p	CLIP-seq
MIRT1309939	hsa-miR-4690-5p	CLIP-seq
MIRT1309940	hsa-miR-4705	CLIP-seq
MIRT1309941	hsa-miR-4762-5p	CLIP-seq
MIRT1309942	hsa-miR-4795-3p	CLIP-seq
MIRT1309943	hsa-miR-4803	CLIP-seq
MIRT1309944	hsa-miR-491-3p	CLIP-seq
MIRT1309945	hsa-miR-494	CLIP-seq
MIRT1309946	hsa-miR-499-3p	CLIP-seq
MIRT1309947	hsa-miR-499a-3p	CLIP-seq
MIRT1309948	hsa-miR-548ad	CLIP-seq
MIRT1309949	hsa-miR-561	CLIP-seq
MIRT1309950	hsa-miR-655	CLIP-seq
MIRT1309951	hsa-miR-767-3p	CLIP-seq
MIRT1309952	hsa-miR-1197	CLIP-seq
MIRT1309913	hsa-miR-129-5p	CLIP-seq
MIRT1309915	hsa-miR-141	CLIP-seq
MIRT1309953	hsa-miR-181a	CLIP-seq
MIRT1309954	hsa-miR-181b	CLIP-seq
MIRT1309955	hsa-miR-181c	CLIP-seq
MIRT1309956	hsa-miR-181d	CLIP-seq
MIRT1309916	hsa-miR-200a	CLIP-seq
MIRT1309957	hsa-miR-202	CLIP-seq
MIRT1309958	hsa-miR-203	CLIP-seq
MIRT1309917	hsa-miR-216b	CLIP-seq
MIRT1309959	hsa-miR-3065-5p	CLIP-seq
MIRT1309960	hsa-miR-3143	CLIP-seq
MIRT1309961	hsa-miR-3161	CLIP-seq
MIRT1309927	hsa-miR-3168	CLIP-seq
MIRT1309962	hsa-miR-3190	CLIP-seq
MIRT1309963	hsa-miR-3200-5p	CLIP-seq
MIRT1309964	hsa-miR-320e	CLIP-seq
MIRT1309965	hsa-miR-323-3p	CLIP-seq
MIRT1309966	hsa-miR-3618	CLIP-seq
MIRT1309928	hsa-miR-3675-3p	CLIP-seq
MIRT1309967	hsa-miR-3689d	CLIP-seq
MIRT1309929	hsa-miR-369-3p	CLIP-seq
MIRT1309930	hsa-miR-374c	CLIP-seq
MIRT1309931	hsa-miR-376c	CLIP-seq
MIRT1309968	hsa-miR-4262	CLIP-seq
MIRT1309933	hsa-miR-4426	CLIP-seq
MIRT1309969	hsa-miR-4474-5p	CLIP-seq
MIRT1309970	hsa-miR-4477a	CLIP-seq
MIRT1309971	hsa-miR-4477b	CLIP-seq
MIRT1309934	hsa-miR-4524	CLIP-seq
MIRT1309935	hsa-miR-4647	CLIP-seq
MIRT1309936	hsa-miR-4652-3p	CLIP-seq
MIRT1309937	hsa-miR-4662b	CLIP-seq
MIRT1309972	hsa-miR-4682	CLIP-seq
MIRT1309938	hsa-miR-4684-5p	CLIP-seq
MIRT1309939	hsa-miR-4690-5p	CLIP-seq
MIRT1309941	hsa-miR-4762-5p	CLIP-seq
MIRT1309973	hsa-miR-4789-5p	CLIP-seq
MIRT1309974	hsa-miR-4802-5p	CLIP-seq
MIRT1309975	hsa-miR-496	CLIP-seq
MIRT1309946	hsa-miR-499-3p	CLIP-seq
MIRT1309947	hsa-miR-499a-3p	CLIP-seq
MIRT1309976	hsa-miR-543	CLIP-seq
MIRT1309948	hsa-miR-548ad	CLIP-seq
MIRT1309977	hsa-miR-548t	CLIP-seq
MIRT1309978	hsa-miR-618	CLIP-seq
MIRT1309979	hsa-miR-653	CLIP-seq
MIRT1309950	hsa-miR-655	CLIP-seq
MIRT1309980	hsa-miR-671-5p	CLIP-seq
MIRT1309931	hsa-miR-376c	CLIP-seq
MIRT1309941	hsa-miR-4762-5p	CLIP-seq
MIRT2092058	hsa-miR-3163	CLIP-seq
MIRT2316538	hsa-miR-1238	CLIP-seq
MIRT1309915	hsa-miR-141	CLIP-seq
MIRT1309916	hsa-miR-200a	CLIP-seq
MIRT1309919	hsa-miR-22	CLIP-seq
MIRT1309920	hsa-miR-224	CLIP-seq
MIRT2316539	hsa-miR-302f	CLIP-seq
MIRT1309959	hsa-miR-3065-5p	CLIP-seq
MIRT1309927	hsa-miR-3168	CLIP-seq
MIRT2316540	hsa-miR-323b-3p	CLIP-seq
MIRT2316541	hsa-miR-3671	CLIP-seq
MIRT1309931	hsa-miR-376c	CLIP-seq
MIRT1309933	hsa-miR-4426	CLIP-seq
MIRT1309934	hsa-miR-4524	CLIP-seq
MIRT1309935	hsa-miR-4647	CLIP-seq
MIRT1309936	hsa-miR-4652-3p	CLIP-seq
MIRT1309937	hsa-miR-4662b	CLIP-seq
MIRT1309939	hsa-miR-4690-5p	CLIP-seq
MIRT1309940	hsa-miR-4705	CLIP-seq
MIRT1309941	hsa-miR-4762-5p	CLIP-seq
MIRT1309943	hsa-miR-4803	CLIP-seq
MIRT1309945	hsa-miR-494	CLIP-seq
MIRT1309946	hsa-miR-499-3p	CLIP-seq
MIRT1309947	hsa-miR-499a-3p	CLIP-seq
MIRT1309948	hsa-miR-548ad	CLIP-seq
MIRT1309949	hsa-miR-561	CLIP-seq
MIRT2316542	hsa-miR-607	CLIP-seq
MIRT1309978	hsa-miR-618	CLIP-seq
MIRT1309951	hsa-miR-767-3p	CLIP-seq
MIRT1309920	hsa-miR-224	CLIP-seq
MIRT2316540	hsa-miR-323b-3p	CLIP-seq
MIRT2316541	hsa-miR-3671	CLIP-seq
MIRT1309941	hsa-miR-4762-5p	CLIP-seq
MIRT2316542	hsa-miR-607	CLIP-seq
MIRT2458354	hsa-miR-106a	CLIP-seq
MIRT2458355	hsa-miR-106b	CLIP-seq
MIRT2458356	hsa-miR-1243	CLIP-seq
MIRT2458357	hsa-miR-17	CLIP-seq
MIRT2458358	hsa-miR-20a	CLIP-seq
MIRT2458359	hsa-miR-20b	CLIP-seq
MIRT2458360	hsa-miR-300	CLIP-seq
MIRT2458361	hsa-miR-3148	CLIP-seq
MIRT2092058	hsa-miR-3163	CLIP-seq
MIRT2458362	hsa-miR-3609	CLIP-seq
MIRT2458363	hsa-miR-3654	CLIP-seq
MIRT2458364	hsa-miR-381	CLIP-seq
MIRT2458365	hsa-miR-3922-5p	CLIP-seq
MIRT2458366	hsa-miR-4753-5p	CLIP-seq
MIRT2458367	hsa-miR-4796-3p	CLIP-seq
MIRT2458368	hsa-miR-485-3p	CLIP-seq
MIRT2458369	hsa-miR-519d	CLIP-seq
MIRT2458370	hsa-miR-548ah	CLIP-seq
MIRT2458371	hsa-miR-624	CLIP-seq
MIRT2458372	hsa-miR-93	CLIP-seq
MIRT2092058	hsa-miR-3163	CLIP-seq
MIRT1309948	hsa-miR-548ad	CLIP-seq
MIRT2612577	hsa-miR-568	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	19690564, 25260751
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005768	Component	Endosome	IDA	24387786
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	23378536
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008432	Function	JUN kinase binding	IDA	23378536
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	ISS
GO:0046330	Process	Positive regulation of JNK cascade	IMP	23378536
GO:0046872	Function	Metal ion binding	IEA
GO:0051640	Process	Organelle localization	IMP	24387786
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0051865	Process	Protein autoubiquitination	ISS
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
609247	10057	ENSG00000082996

O43567

Protein name

E3 ubiquitin-protein ligase RNF13 (EC 2.3.2.27) (RING finger protein 13)

Protein function

E3 ubiquitin-protein ligase that regulates cell proliferation (PubMed:18794910, PubMed:23378536, PubMed:30595371). Involved in apoptosis regulation (PubMed:23378536, PubMed:30595371). Mediates ER stress-induced activation of JNK signaling pathwa

PDB

5ZBU , 5ZC4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02225	PA	64 → 158	PA domain	Family
PF13639	zf-RING_2	238 → 282	Ring finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (at protein level). In normal pancreas, expressed in islets, but not in ducts, nor in acini (at protein level). {ECO:0000269|PubMed:18794910}.

Sequence

MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLP
AEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAI
VHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKDEFTYEKGGHLILVPEFSLPL
EYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKKLPVHKFKKGDEYDVC
AICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQ
EENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINE
HDVVVQLQPNGERDYNIANTV

Sequence length

381

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 73	Likely pathogenic; Pathogenic	rs2108622234, rs2473635400, rs2473635477, rs1559980771, rs1559980785	RCV003883179 RCV004798971 RCV002509894 RCV000766219 RCV000766220	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNF13-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNF13-RELATED SEVERE EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blindness	Blindness	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	GENOMICS_ENGLAND_DG	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26708285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34831286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33083473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26708285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26708285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10196367		★★★★★ ★☆☆☆☆ Found in Text Mining only
RNF13-related severe early-onset epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33387485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual Cortex Disorder	Visual cortex disease	GENOMICS_ENGLAND_DG	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only

RNF13 (ring finger protein 13)