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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57630
Gene name	SH3 domain containing ring finger 1
Gene symbol	SH3RF1
Synonyms (NCBI Gene)	POSHRNF142SH3MD2
Chromosome	4
Chromosome location	4q32.3-q33
Summary	This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in pr

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021985	hsa-miR-128-3p	Microarray	17612493
MIRT038416	hsa-miR-296-3p	CLASH	23622248
MIRT460329	hsa-miR-5700	PAR-CLIP	23592263
MIRT460328	hsa-miR-6165	PAR-CLIP	23592263
MIRT460327	hsa-miR-4690-5p	PAR-CLIP	23592263
MIRT460326	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460325	hsa-miR-1321	PAR-CLIP	23592263
MIRT460324	hsa-miR-4739	PAR-CLIP	23592263
MIRT460323	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT460322	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460321	hsa-miR-586	PAR-CLIP	23592263
MIRT460319	hsa-miR-4270	PAR-CLIP	23592263
MIRT460320	hsa-miR-4441	PAR-CLIP	23592263
MIRT460318	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT460317	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT460316	hsa-miR-4784	PAR-CLIP	23592263
MIRT460315	hsa-miR-765	PAR-CLIP	23592263
MIRT460314	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT460313	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT460329	hsa-miR-5700	PAR-CLIP	23592263
MIRT460328	hsa-miR-6165	PAR-CLIP	23592263
MIRT460327	hsa-miR-4690-5p	PAR-CLIP	23592263
MIRT460326	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460325	hsa-miR-1321	PAR-CLIP	23592263
MIRT460324	hsa-miR-4739	PAR-CLIP	23592263
MIRT460323	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT460322	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460321	hsa-miR-586	PAR-CLIP	23592263
MIRT460319	hsa-miR-4270	PAR-CLIP	23592263
MIRT460320	hsa-miR-4441	PAR-CLIP	23592263
MIRT460318	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT460317	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT460316	hsa-miR-4784	PAR-CLIP	23592263
MIRT460315	hsa-miR-765	PAR-CLIP	23592263
MIRT460314	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT460313	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT1345578	hsa-miR-1208	CLIP-seq
MIRT1345579	hsa-miR-1244	CLIP-seq
MIRT1345580	hsa-miR-1245b-3p	CLIP-seq
MIRT1345581	hsa-miR-1273d	CLIP-seq
MIRT1345582	hsa-miR-1323	CLIP-seq
MIRT1345583	hsa-miR-186	CLIP-seq
MIRT1345584	hsa-miR-194	CLIP-seq
MIRT1345585	hsa-miR-21	CLIP-seq
MIRT1345586	hsa-miR-2110	CLIP-seq
MIRT1345587	hsa-miR-216b	CLIP-seq
MIRT1345588	hsa-miR-218	CLIP-seq
MIRT1345589	hsa-miR-30a	CLIP-seq
MIRT1345590	hsa-miR-30b	CLIP-seq
MIRT1345591	hsa-miR-30c	CLIP-seq
MIRT1345592	hsa-miR-30d	CLIP-seq
MIRT1345593	hsa-miR-30e	CLIP-seq
MIRT1345594	hsa-miR-3153	CLIP-seq
MIRT1345595	hsa-miR-323-3p	CLIP-seq
MIRT1345596	hsa-miR-34b	CLIP-seq
MIRT1345597	hsa-miR-34c-3p	CLIP-seq
MIRT1345598	hsa-miR-3613-3p	CLIP-seq
MIRT1345599	hsa-miR-421	CLIP-seq
MIRT1345600	hsa-miR-4257	CLIP-seq
MIRT1345601	hsa-miR-4267	CLIP-seq
MIRT1345602	hsa-miR-4271	CLIP-seq
MIRT1345603	hsa-miR-4289	CLIP-seq
MIRT1345604	hsa-miR-4311	CLIP-seq
MIRT1345605	hsa-miR-4312	CLIP-seq
MIRT1345606	hsa-miR-4434	CLIP-seq
MIRT1345607	hsa-miR-4516	CLIP-seq
MIRT1345608	hsa-miR-4528	CLIP-seq
MIRT1345609	hsa-miR-4531	CLIP-seq
MIRT1345610	hsa-miR-4639-3p	CLIP-seq
MIRT1345611	hsa-miR-4666-5p	CLIP-seq
MIRT1345612	hsa-miR-4696	CLIP-seq
MIRT1345613	hsa-miR-4704-3p	CLIP-seq
MIRT1345614	hsa-miR-4705	CLIP-seq
MIRT1345615	hsa-miR-4709-5p	CLIP-seq
MIRT1345616	hsa-miR-4718	CLIP-seq
MIRT1345617	hsa-miR-4725-3p	CLIP-seq
MIRT1345618	hsa-miR-4742-3p	CLIP-seq
MIRT1345619	hsa-miR-4765	CLIP-seq
MIRT1345620	hsa-miR-4768-3p	CLIP-seq
MIRT1345621	hsa-miR-4802-5p	CLIP-seq
MIRT1345622	hsa-miR-490-3p	CLIP-seq
MIRT1345623	hsa-miR-491-5p	CLIP-seq
MIRT1345624	hsa-miR-548aa	CLIP-seq
MIRT1345625	hsa-miR-548ac	CLIP-seq
MIRT1345626	hsa-miR-548ad	CLIP-seq
MIRT1345627	hsa-miR-548d-3p	CLIP-seq
MIRT1345628	hsa-miR-548o	CLIP-seq
MIRT1345629	hsa-miR-548z	CLIP-seq
MIRT1345630	hsa-miR-556-3p	CLIP-seq
MIRT1345631	hsa-miR-590-3p	CLIP-seq
MIRT1345632	hsa-miR-590-5p	CLIP-seq
MIRT1345633	hsa-miR-630	CLIP-seq
MIRT1345634	hsa-miR-649	CLIP-seq
MIRT1345635	hsa-miR-656	CLIP-seq
MIRT1345636	hsa-miR-892a	CLIP-seq
MIRT1345589	hsa-miR-30a	CLIP-seq
MIRT1345590	hsa-miR-30b	CLIP-seq
MIRT1345591	hsa-miR-30c	CLIP-seq
MIRT1345592	hsa-miR-30d	CLIP-seq
MIRT1345593	hsa-miR-30e	CLIP-seq
MIRT1553671	hsa-miR-3913-3p	CLIP-seq
MIRT1345605	hsa-miR-4312	CLIP-seq
MIRT1553672	hsa-miR-4652-3p	CLIP-seq
MIRT1553673	hsa-miR-489	CLIP-seq
MIRT1553674	hsa-miR-548g	CLIP-seq
MIRT2102247	hsa-miR-1178	CLIP-seq
MIRT2102248	hsa-miR-1299	CLIP-seq
MIRT2102249	hsa-miR-1976	CLIP-seq
MIRT2102250	hsa-miR-3121-5p	CLIP-seq
MIRT1345599	hsa-miR-421	CLIP-seq
MIRT2102251	hsa-miR-4272	CLIP-seq
MIRT2102252	hsa-miR-4719	CLIP-seq
MIRT2102253	hsa-miR-4803	CLIP-seq
MIRT2102254	hsa-miR-500a	CLIP-seq
MIRT2102255	hsa-miR-501-5p	CLIP-seq
MIRT1345625	hsa-miR-548ac	CLIP-seq
MIRT1345627	hsa-miR-548d-3p	CLIP-seq
MIRT1345629	hsa-miR-548z	CLIP-seq
MIRT2102256	hsa-miR-591	CLIP-seq
MIRT2102257	hsa-miR-873	CLIP-seq
MIRT2102258	hsa-miR-875-3p	CLIP-seq
MIRT1345578	hsa-miR-1208	CLIP-seq
MIRT2326761	hsa-miR-1224-5p	CLIP-seq
MIRT1345581	hsa-miR-1273d	CLIP-seq
MIRT2326762	hsa-miR-1298	CLIP-seq
MIRT2326763	hsa-miR-1470	CLIP-seq
MIRT1345584	hsa-miR-194	CLIP-seq
MIRT2326764	hsa-miR-197	CLIP-seq
MIRT2102249	hsa-miR-1976	CLIP-seq
MIRT1345589	hsa-miR-30a	CLIP-seq
MIRT1345590	hsa-miR-30b	CLIP-seq
MIRT1345591	hsa-miR-30c	CLIP-seq
MIRT1345592	hsa-miR-30d	CLIP-seq
MIRT1345593	hsa-miR-30e	CLIP-seq
MIRT2326765	hsa-miR-3120-5p	CLIP-seq
MIRT2326766	hsa-miR-3144-3p	CLIP-seq
MIRT1345597	hsa-miR-34c-3p	CLIP-seq
MIRT2326767	hsa-miR-3915	CLIP-seq
MIRT1345599	hsa-miR-421	CLIP-seq
MIRT1345600	hsa-miR-4257	CLIP-seq
MIRT1345601	hsa-miR-4267	CLIP-seq
MIRT2102251	hsa-miR-4272	CLIP-seq
MIRT2326768	hsa-miR-4276	CLIP-seq
MIRT2326769	hsa-miR-4279	CLIP-seq
MIRT2326770	hsa-miR-4302	CLIP-seq
MIRT1345605	hsa-miR-4312	CLIP-seq
MIRT2326771	hsa-miR-4496	CLIP-seq
MIRT2326772	hsa-miR-4667-3p	CLIP-seq
MIRT2326773	hsa-miR-4689	CLIP-seq
MIRT1345614	hsa-miR-4705	CLIP-seq
MIRT2326774	hsa-miR-4711-5p	CLIP-seq
MIRT2326775	hsa-miR-4731-5p	CLIP-seq
MIRT2326776	hsa-miR-4751	CLIP-seq
MIRT2326777	hsa-miR-4759	CLIP-seq
MIRT2326778	hsa-miR-4778-3p	CLIP-seq
MIRT2102253	hsa-miR-4803	CLIP-seq
MIRT2326779	hsa-miR-486-3p	CLIP-seq
MIRT2326780	hsa-miR-5096	CLIP-seq
MIRT1345624	hsa-miR-548aa	CLIP-seq
MIRT1345625	hsa-miR-548ac	CLIP-seq
MIRT1345627	hsa-miR-548d-3p	CLIP-seq
MIRT1345629	hsa-miR-548z	CLIP-seq
MIRT2326781	hsa-miR-579	CLIP-seq
MIRT1345631	hsa-miR-590-3p	CLIP-seq
MIRT2326782	hsa-miR-626	CLIP-seq
MIRT2326783	hsa-miR-642a	CLIP-seq
MIRT1345635	hsa-miR-656	CLIP-seq
MIRT2326784	hsa-miR-759	CLIP-seq
MIRT2102257	hsa-miR-873	CLIP-seq
MIRT1345636	hsa-miR-892a	CLIP-seq
MIRT2622268	hsa-miR-1202	CLIP-seq
MIRT1345580	hsa-miR-1245b-3p	CLIP-seq
MIRT2326762	hsa-miR-1298	CLIP-seq
MIRT2622269	hsa-miR-3160-3p	CLIP-seq
MIRT2622270	hsa-miR-3163	CLIP-seq
MIRT2622271	hsa-miR-3194-5p	CLIP-seq
MIRT2622272	hsa-miR-320a	CLIP-seq
MIRT2622273	hsa-miR-320b	CLIP-seq
MIRT2622274	hsa-miR-320c	CLIP-seq
MIRT2622275	hsa-miR-320d	CLIP-seq
MIRT2622276	hsa-miR-3679-3p	CLIP-seq
MIRT2622277	hsa-miR-3685	CLIP-seq
MIRT2622278	hsa-miR-384	CLIP-seq
MIRT2622279	hsa-miR-3941	CLIP-seq
MIRT2622280	hsa-miR-3972	CLIP-seq
MIRT2622281	hsa-miR-4429	CLIP-seq
MIRT2622282	hsa-miR-4487	CLIP-seq
MIRT2622283	hsa-miR-466	CLIP-seq
MIRT2622284	hsa-miR-4672	CLIP-seq
MIRT2326774	hsa-miR-4711-5p	CLIP-seq
MIRT2326775	hsa-miR-4731-5p	CLIP-seq
MIRT2326778	hsa-miR-4778-3p	CLIP-seq
MIRT2326779	hsa-miR-486-3p	CLIP-seq
MIRT2622285	hsa-miR-495	CLIP-seq
MIRT2102254	hsa-miR-500a	CLIP-seq
MIRT2622286	hsa-miR-548a-3p	CLIP-seq
MIRT2622287	hsa-miR-548e	CLIP-seq
MIRT2622288	hsa-miR-548f	CLIP-seq
MIRT2622289	hsa-miR-558	CLIP-seq
MIRT2622290	hsa-miR-720	CLIP-seq
MIRT2326784	hsa-miR-759	CLIP-seq
MIRT2622291	hsa-miR-767-3p	CLIP-seq
MIRT2326762	hsa-miR-1298	CLIP-seq
MIRT2102250	hsa-miR-3121-5p	CLIP-seq
MIRT2622269	hsa-miR-3160-3p	CLIP-seq
MIRT2622270	hsa-miR-3163	CLIP-seq
MIRT2622276	hsa-miR-3679-3p	CLIP-seq
MIRT2690674	hsa-miR-4263	CLIP-seq
MIRT2622282	hsa-miR-4487	CLIP-seq
MIRT2326774	hsa-miR-4711-5p	CLIP-seq
MIRT2326775	hsa-miR-4731-5p	CLIP-seq
MIRT2326778	hsa-miR-4778-3p	CLIP-seq
MIRT2690675	hsa-miR-4799-5p	CLIP-seq
MIRT2326779	hsa-miR-486-3p	CLIP-seq
MIRT2622285	hsa-miR-495	CLIP-seq
MIRT2102254	hsa-miR-500a	CLIP-seq
MIRT2102255	hsa-miR-501-5p	CLIP-seq
MIRT2622286	hsa-miR-548a-3p	CLIP-seq
MIRT2622287	hsa-miR-548e	CLIP-seq
MIRT2622288	hsa-miR-548f	CLIP-seq
MIRT2622289	hsa-miR-558	CLIP-seq
MIRT2690676	hsa-miR-576-5p	CLIP-seq
MIRT2622290	hsa-miR-720	CLIP-seq
MIRT2326784	hsa-miR-759	CLIP-seq
MIRT2622291	hsa-miR-767-3p	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0005078	Function	MAP-kinase scaffold activity	ISS
GO:0005515	Function	Protein binding	IPI	20696164, 20936779, 21586138, 25438054, 36931259
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	21586138
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	21586138
GO:0043370	Process	Regulation of CD4-positive, alpha-beta T cell differentiation	ISS
GO:0046330	Process	Positive regulation of JNK cascade	IBA
GO:0046330	Process	Positive regulation of JNK cascade	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0051865	Process	Protein autoubiquitination	IMP	20696164
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	20696164
GO:1904044	Process	Response to aldosterone	IEA
GO:2000564	Process	Regulation of CD8-positive, alpha-beta T cell proliferation	ISS
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	21586138

MIM	HGNC	e!Ensembl
618642	17650	ENSG00000154447

Q7Z6J0

Protein name

E3 ubiquitin-protein ligase SH3RF1 (EC 2.3.2.27) (Plenty of SH3s) (Protein POSH) (RING finger protein 142) (RING-type E3 ubiquitin transferase SH3RF1) (SH3 domain-containing RING finger protein 1) (SH3 multiple domains protein 2)

Protein function

Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin-dependent and

PDB

7NZC , 7NZD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13923	zf-C3HC4_2	11 → 52		Domain
PF00018	SH3_1	140 → 185	SH3 domain	Domain
PF14604	SH3_9	203 → 255	Variant SH3 domain	Domain
PF14604	SH3_9	452 → 502	Variant SH3 domain	Domain
PF14604	SH3_9	836 → 886	Variant SH3 domain	Domain

Sequence

MDESALLDLLECPVCLERLDASAKVLPCQHTFCKRCLLGIVGSRNELRCPECRTLVGSGV
EELPSNILLVRLLDGIKQRPWKPGPGGGSGTNCTNALRSQSSTVANCSSKDLQSSQGGQQ
PRVQSWSPPVRGIPQLPCAKALYNYEGKEPGDLKFSKGDIIILRRQVDENWYHGEVNGIH
GFFPTNFVQIIKPLPQPPPQCKALYDFEVKDKEADKDCLPFAKDDVLTVIRRVDENWAEG
MLADKIGIFPISYVEFNSAAKQLIEWDKPPVPGVDAGECSSAAAQSSTAPKHSDTKKNTK
KRHSFTSLTMANKSSQASQNRHSMEISPPVLISSSNPTAAARISELSGLSCSAPSQVHIS
TTGLIVTPPPSSPVTTGPSFTFPSDVPYQAALGTLNPPLPPPPLLAATVLASTPPGATAA
AAAAGMGPRPMAGSTDQIAHLRPQTRPSVYVAIYPYTPRKEDELELRKGEMFLVFERCQD
GWFKGTSMHTSKIGVFPGNYVAPVTRAVTNASQAKVPMSTAGQTSRGVTMVSPSTAGGPA
QKLQGNGVAGSPSVVPAAVVSAAHIQTSPQAKVLLHMTGQMTVNQARNAVRTVAAHNQER
PTAAVTPIQVQNAAGLSPASVGLSHHSLASPQPAPLMPGSATHTAAISISRASAPLACAA
AAPLTSPSITSASLEAEPSGRIVTVLPGLPTSPDSASSACGNSSATKPDKDSKKEKKGLL
KLLSGASTKRKPRVSPPASPTLEVELGSAELPLQGAVGPELPPGGGHGRAGSCPVDGDGP
VTTAVAGAALAQDAFHRKASSLDSAVPIAPPPRQACSSLGPVLNESRPVVCERHRVVVSY
PPQSEAELELKEGDIVFVHKKREDGWFKGTLQRNGKTGLFPGSFVENI

Sequence length

888

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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 (9)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30185829	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	25526632	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23644744	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27987133	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29432529	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23644744	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20805372	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17095503	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	29432529	★★★★★ ★☆☆☆☆ Found in Text Mining only

SH3RF1 (SH3 domain containing ring finger 1)