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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54542
Gene name	Ring finger and CCCH-type domains 2
Gene symbol	RC3H2
Synonyms (NCBI Gene)	MNABRNF164
Chromosome	9
Chromosome location	9q33.2

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047142	hsa-miR-183-5p	CLASH	23622248
MIRT042099	hsa-miR-484	CLASH	23622248
MIRT1297758	hsa-miR-3158-3p	CLIP-seq
MIRT1297759	hsa-miR-361-3p	CLIP-seq
MIRT1297760	hsa-miR-3616-5p	CLIP-seq
MIRT1297761	hsa-miR-3647-5p	CLIP-seq
MIRT1297762	hsa-miR-4313	CLIP-seq
MIRT1297763	hsa-miR-4635	CLIP-seq
MIRT1297764	hsa-miR-4694-3p	CLIP-seq
MIRT1297765	hsa-miR-4696	CLIP-seq
MIRT1297766	hsa-miR-4719	CLIP-seq
MIRT1297767	hsa-miR-4721	CLIP-seq
MIRT1297768	hsa-miR-488	CLIP-seq
MIRT1297769	hsa-miR-573	CLIP-seq
MIRT1297770	hsa-miR-889	CLIP-seq
MIRT1297759	hsa-miR-361-3p	CLIP-seq
MIRT1297762	hsa-miR-4313	CLIP-seq
MIRT1297764	hsa-miR-4694-3p	CLIP-seq
MIRT1297766	hsa-miR-4719	CLIP-seq
MIRT1297768	hsa-miR-488	CLIP-seq
MIRT1297770	hsa-miR-889	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	26489670
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000209	Process	Protein polyubiquitination	IMP	24448648
GO:0000288	Process	Nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IBA
GO:0000932	Component	P-body	IEA
GO:0001782	Process	B cell homeostasis	IEA
GO:0003677	Function	DNA binding	IDA	10938276
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	26489670
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009986	Component	Cell surface	IDA	10938276
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010608	Process	Post-transcriptional regulation of gene expression	IEA
GO:0016020	Component	Membrane	IDA	10938276
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035613	Function	RNA stem-loop binding	IBA
GO:0035613	Function	RNA stem-loop binding	IDA	26249698, 26489670
GO:0035613	Function	RNA stem-loop binding	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0043029	Process	T cell homeostasis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048535	Process	Lymph node development	IEA
GO:0048536	Process	Spleen development	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	ISS
GO:0060173	Process	Limb development	IEA
GO:0061470	Process	T follicular helper cell differentiation	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	24448648, 26489670
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IEA
GO:2000320	Process	Negative regulation of T-helper 17 cell differentiation	IEA
GO:2000320	Process	Negative regulation of T-helper 17 cell differentiation	ISS
GO:2000628	Process	Regulation of miRNA metabolic process	IEA
GO:2000628	Process	Regulation of miRNA metabolic process	ISS

MIM	HGNC	e!Ensembl
615231	21461	ENSG00000056586

Q9HBD1

Protein name

Roquin-2 (EC 2.3.2.27) (Membrane-associated nucleic acid-binding protein) (RING finger and CCCH-type zinc finger domain-containing protein 2) (RING finger protein 164) (RING-type E3 ubiquitin transferase Roquin-2)

Protein function

Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds t

PDB

4Z30 , 4Z31 , 4ZLC , 4ZLD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13445	zf-RING_UBOX	14 → 53	RING-type zinc-finger	Domain
PF18386	ROQ_II	268 → 323	Roquin II domain	Domain
PF00642	zf-CCCH	411 → 437	Zinc finger C-x8-C-x5-C-x3-H type (and similar)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in spleen, testis, ovary and small intestine. {ECO:0000269|PubMed:10938276}.

Sequence

MPVQAAQWTEFLSCPICYNEFDENVHKPISLGCSHTVCKTCLNKLHRKACPFDQTAINTD
IDVLPVNFALLQLVGAQVPDHQSIKLSNLGENKHYEVAKKCVEDLALYLKPLSGGKGVAS
LNQSALSRPMQRKLVTLVNCQLVEEEGRVRAMRAARSLGERTVTELILQHQNPQQLSANL
WAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQRLEPRFPQASKTSIG
HVVQLLYRASCFKVTKRDEDSSLMQLKEEFRSYEALRREHDAQIVHIAMEAGLRISPEQW
SSLLYGDLAHKSHMQSIIDKLQSPESFAKSVQELTIVLQRTGDPANLNRLRPHLELLANI
DPNPDAVSPTWEQLENAMVAVKTVVHGLVDFIQNYSRKGHETPQPQPNSKYKTSMCRDLR
QQGGCPRGTNCTFAHSQEELEKYRLRNKKINATVRTFPLLNKVGVNNTVTTTAGNVISVI
GSTETTGKIVPSTNGISNAENSVSQLISRSTDSTLRALETVKKVGKVGANGQNAAGPSAD
SVTENKIGSPPKTPVSNVAATSAGPSNVGTELNSVPQKSSPFLTRVPVYPPHSENIQYFQ
DPRTQIPFEVPQYPQTGYYPPPPTVPAGVAPCVPRFVRSNNVPESSLPPASMPYADHYST
FSPRDRMNSSPYQPPPPQPYGPVPPVPSGMYAPVYDSRRIWRPPMYQRDDIIRSNSLPPM
DVMHSSVYQTSLRERYNSLDGYYSVACQPPSEPRTTVPLPREPCGHLKTSCEEQIRRKPD
QWAQYHTQKAPLVSSTLPVATQSPTPPSPLFSVDFRADFSESVSGTKFEEDHLSHYSPWS
CGTIGSCINAIDSEPKDVIANSNAVLMDLDSGDVKRRVHLFETQRRTKEEDPIIPFSDGP
IISKWGAISRSSRTGYHTTDPVQATASQGSATKPISVSDYVPYVNAVDSRWSSYGNEATS
SAHYVERDRFIVTDLSGHRKHSSTGDLLSLELQQAKSNSLLLQREANALAMQQKWNSLDE
GRHLTLNLLSKEIELRNGELQSDYTEDATDTKPDRDIELELSALDTDEPDGQSEPIEEIL
DIQLGISSQNDQLLNGMAVENGHPVQQHQKEPPKQKKQSLGEDHVILEEQKTILPVTSCF
SQPLPVSISNASCLPITTSVSAGNLILKTHVMSEDKNDFLKPVANGKMVNS

Sequence length

1191

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 (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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RC3H2 (ring finger and CCCH-type domains 2)