TRIM71 (tripartite motif containing 71)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 131405
• Gene name: Tripartite motif containing 71
• Gene symbol: TRIM71
• Synonyms (NCBI Gene): HYC4, HYDCC1, LIN-41, LIN41
• Chromosome: 3
• Chromosome location: 3p22.3
• Summary: The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1045177462	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1575362216	G>A	Pathogenic	Missense variant, coding sequence variant
rs1575362239	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1575362492	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (253)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002077	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002077	hsa-let-7a-5p	Luciferase reporter assay	17890240
MIRT002076	hsa-let-7c-5p	Luciferase reporter assay	17890240
MIRT002076	hsa-let-7c-5p	Luciferase reporter assay	17890240
MIRT002077	hsa-let-7a-5p	Luciferase reporter assay	18829576
MIRT006740	hsa-miR-125b-5p	Immunoblot, Northern blot	15722555
MIRT002077	hsa-let-7a-5p	Immunoblot, Northern blot	15722555
MIRT002076	hsa-let-7c-5p	Reporter assay;Other	17890240
MIRT002077	hsa-let-7a-5p	Reporter assay	17890240
MIRT051040	hsa-miR-17-5p	CLASH	23622248
MIRT641833	hsa-miR-329-5p	HITS-CLIP	23824327
MIRT641831	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT652155	hsa-miR-4677-3p	HITS-CLIP	23824327
MIRT652154	hsa-miR-4679	HITS-CLIP	23824327
MIRT652153	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT652152	hsa-miR-4770	HITS-CLIP	23824327
MIRT652151	hsa-miR-6088	HITS-CLIP	23824327
MIRT652150	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT652149	hsa-miR-1273f	HITS-CLIP	23824327
MIRT641830	hsa-miR-655-5p	HITS-CLIP	23824327
MIRT641829	hsa-miR-377-5p	HITS-CLIP	23824327
MIRT641828	hsa-miR-6086	HITS-CLIP	23824327
MIRT652148	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT641827	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT652147	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT652146	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT652145	hsa-miR-133b	HITS-CLIP	23824327
MIRT641833	hsa-miR-329-5p	HITS-CLIP	23824327
MIRT641832	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT641831	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT641830	hsa-miR-655-5p	HITS-CLIP	23824327
MIRT641829	hsa-miR-377-5p	HITS-CLIP	23824327
MIRT641828	hsa-miR-6086	HITS-CLIP	23824327
MIRT641827	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT243480	hsa-miR-4500	PAR-CLIP	20371350
MIRT002076	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT243471	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT243472	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT243475	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT243473	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT243477	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT002077	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT243476	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT243479	hsa-miR-4458	PAR-CLIP	20371350
MIRT243474	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT355451	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT243489	hsa-miR-5680	PAR-CLIP	20371350
MIRT243482	hsa-miR-3927-3p	PAR-CLIP	20371350
MIRT243490	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT565225	hsa-miR-34c-3p	PAR-CLIP	20371350
MIRT243485	hsa-miR-4495	PAR-CLIP	20371350
MIRT565224	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT407940	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT565223	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT243488	hsa-miR-5093	PAR-CLIP	20371350
MIRT243483	hsa-miR-3935	PAR-CLIP	20371350
MIRT255609	hsa-miR-3908	PAR-CLIP	22012620
MIRT255611	hsa-miR-4759	PAR-CLIP	22012620
MIRT255607	hsa-miR-3169	PAR-CLIP	22012620
MIRT255613	hsa-miR-8083	PAR-CLIP	22012620
MIRT243478	hsa-miR-3607-3p	PAR-CLIP	22012620
MIRT533513	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT255606	hsa-miR-3117-3p	PAR-CLIP	22012620
MIRT533512	hsa-miR-452-3p	PAR-CLIP	22012620
MIRT533511	hsa-miR-3686	PAR-CLIP	22012620
MIRT255610	hsa-miR-4503	PAR-CLIP	22012620
MIRT533510	hsa-miR-1276	PAR-CLIP	22012620
MIRT533509	hsa-miR-2278	PAR-CLIP	22012620
MIRT533508	hsa-miR-1298-3p	PAR-CLIP	22012620
MIRT533507	hsa-miR-4667-5p	PAR-CLIP	22012620
MIRT533506	hsa-miR-4700-5p	PAR-CLIP	22012620
MIRT533505	hsa-miR-8089	PAR-CLIP	22012620
MIRT533504	hsa-miR-637	PAR-CLIP	22012620
MIRT533503	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT533502	hsa-miR-4468	PAR-CLIP	22012620
MIRT533501	hsa-miR-4271	PAR-CLIP	22012620
MIRT533500	hsa-miR-4725-3p	PAR-CLIP	22012620
MIRT533499	hsa-miR-6780b-5p	PAR-CLIP	22012620
MIRT533498	hsa-miR-2110	PAR-CLIP	22012620
MIRT533497	hsa-miR-4761-3p	PAR-CLIP	22012620
MIRT533496	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT533495	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT533494	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT533493	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT533492	hsa-miR-3666	PAR-CLIP	22012620
MIRT533491	hsa-miR-4295	PAR-CLIP	22012620
MIRT533490	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT533489	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT533488	hsa-miR-3150b-3p	PAR-CLIP	22012620
MIRT533487	hsa-miR-4784	PAR-CLIP	22012620
MIRT533486	hsa-miR-4653-3p	PAR-CLIP	22012620
MIRT533485	hsa-miR-1256	PAR-CLIP	22012620
MIRT533484	hsa-miR-6881-5p	PAR-CLIP	22012620
MIRT533483	hsa-miR-4671-3p	PAR-CLIP	22012620
MIRT533482	hsa-miR-4473	PAR-CLIP	22012620
MIRT533481	hsa-miR-3915	PAR-CLIP	22012620
MIRT533480	hsa-miR-1224-5p	PAR-CLIP	22012620
MIRT533479	hsa-miR-4689	PAR-CLIP	22012620
MIRT533478	hsa-miR-6858-5p	PAR-CLIP	22012620
MIRT533477	hsa-miR-4325	PAR-CLIP	22012620
MIRT533476	hsa-miR-6737-5p	PAR-CLIP	22012620
MIRT533475	hsa-miR-6812-5p	PAR-CLIP	22012620
MIRT533474	hsa-miR-6819-5p	PAR-CLIP	22012620
MIRT533473	hsa-miR-3170	PAR-CLIP	22012620
MIRT533472	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT533471	hsa-miR-5572	PAR-CLIP	22012620
MIRT533470	hsa-miR-183-5p	PAR-CLIP	22012620
MIRT533469	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT533468	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT533467	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT533461	hsa-miR-383-5p	PAR-CLIP	22012620
MIRT533466	hsa-miR-3156-5p	PAR-CLIP	22012620
MIRT533465	hsa-miR-1243	PAR-CLIP	22012620
MIRT533464	hsa-miR-2115-3p	PAR-CLIP	22012620
MIRT533463	hsa-miR-378j	PAR-CLIP	22012620
MIRT533462	hsa-miR-6839-5p	PAR-CLIP	22012620
MIRT533461	hsa-miR-383-5p	PAR-CLIP	22012620
MIRT533460	hsa-miR-593-5p	PAR-CLIP	22012620
MIRT002076	hsa-let-7c-5p	3'LIFE	25074381
MIRT002076	hsa-let-7c-5p	3'LIFE	25074381
MIRT641833	hsa-miR-329-5p	HITS-CLIP	23824327
MIRT641831	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT652155	hsa-miR-4677-3p	HITS-CLIP	23824327
MIRT652154	hsa-miR-4679	HITS-CLIP	23824327
MIRT652153	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT652152	hsa-miR-4770	HITS-CLIP	23824327
MIRT652151	hsa-miR-6088	HITS-CLIP	23824327
MIRT652150	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT652149	hsa-miR-1273f	HITS-CLIP	23824327
MIRT641830	hsa-miR-655-5p	HITS-CLIP	23824327
MIRT641829	hsa-miR-377-5p	HITS-CLIP	23824327
MIRT641828	hsa-miR-6086	HITS-CLIP	23824327
MIRT652148	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT641827	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT652147	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT652146	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT652145	hsa-miR-133b	HITS-CLIP	23824327
MIRT641833	hsa-miR-329-5p	HITS-CLIP	23824327
MIRT641832	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT641831	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT641830	hsa-miR-655-5p	HITS-CLIP	23824327
MIRT641829	hsa-miR-377-5p	HITS-CLIP	23824327
MIRT641828	hsa-miR-6086	HITS-CLIP	23824327
MIRT641827	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT243480	hsa-miR-4500	PAR-CLIP	20371350
MIRT002076	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT243471	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT243472	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT243475	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT243473	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT243477	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT002077	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT243476	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT243479	hsa-miR-4458	PAR-CLIP	20371350
MIRT243474	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT355451	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT243489	hsa-miR-5680	PAR-CLIP	20371350
MIRT243482	hsa-miR-3927-3p	PAR-CLIP	20371350
MIRT243490	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT565225	hsa-miR-34c-3p	PAR-CLIP	20371350
MIRT243485	hsa-miR-4495	PAR-CLIP	20371350
MIRT565224	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT407940	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT565223	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT243488	hsa-miR-5093	PAR-CLIP	20371350
MIRT243483	hsa-miR-3935	PAR-CLIP	20371350
MIRT255609	hsa-miR-3908	PAR-CLIP	22012620
MIRT255611	hsa-miR-4759	PAR-CLIP	22012620
MIRT255607	hsa-miR-3169	PAR-CLIP	22012620
MIRT255613	hsa-miR-8083	PAR-CLIP	22012620
MIRT243478	hsa-miR-3607-3p	PAR-CLIP	22012620
MIRT533513	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT255606	hsa-miR-3117-3p	PAR-CLIP	22012620
MIRT533512	hsa-miR-452-3p	PAR-CLIP	22012620
MIRT533511	hsa-miR-3686	PAR-CLIP	22012620
MIRT255610	hsa-miR-4503	PAR-CLIP	22012620
MIRT533510	hsa-miR-1276	PAR-CLIP	22012620
MIRT533509	hsa-miR-2278	PAR-CLIP	22012620
MIRT533508	hsa-miR-1298-3p	PAR-CLIP	22012620
MIRT533507	hsa-miR-4667-5p	PAR-CLIP	22012620
MIRT533506	hsa-miR-4700-5p	PAR-CLIP	22012620
MIRT533505	hsa-miR-8089	PAR-CLIP	22012620
MIRT533504	hsa-miR-637	PAR-CLIP	22012620
MIRT533503	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT533502	hsa-miR-4468	PAR-CLIP	22012620
MIRT533501	hsa-miR-4271	PAR-CLIP	22012620
MIRT533500	hsa-miR-4725-3p	PAR-CLIP	22012620
MIRT533499	hsa-miR-6780b-5p	PAR-CLIP	22012620
MIRT533498	hsa-miR-2110	PAR-CLIP	22012620
MIRT533497	hsa-miR-4761-3p	PAR-CLIP	22012620
MIRT533496	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT533495	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT533494	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT533493	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT533492	hsa-miR-3666	PAR-CLIP	22012620
MIRT533491	hsa-miR-4295	PAR-CLIP	22012620
MIRT533490	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT533489	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT533488	hsa-miR-3150b-3p	PAR-CLIP	22012620
MIRT533487	hsa-miR-4784	PAR-CLIP	22012620
MIRT533486	hsa-miR-4653-3p	PAR-CLIP	22012620
MIRT533485	hsa-miR-1256	PAR-CLIP	22012620
MIRT533484	hsa-miR-6881-5p	PAR-CLIP	22012620
MIRT533483	hsa-miR-4671-3p	PAR-CLIP	22012620
MIRT533482	hsa-miR-4473	PAR-CLIP	22012620
MIRT533481	hsa-miR-3915	PAR-CLIP	22012620
MIRT533480	hsa-miR-1224-5p	PAR-CLIP	22012620
MIRT533479	hsa-miR-4689	PAR-CLIP	22012620
MIRT533478	hsa-miR-6858-5p	PAR-CLIP	22012620
MIRT533477	hsa-miR-4325	PAR-CLIP	22012620
MIRT533476	hsa-miR-6737-5p	PAR-CLIP	22012620
MIRT533475	hsa-miR-6812-5p	PAR-CLIP	22012620
MIRT533474	hsa-miR-6819-5p	PAR-CLIP	22012620
MIRT533473	hsa-miR-3170	PAR-CLIP	22012620
MIRT533472	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT533471	hsa-miR-5572	PAR-CLIP	22012620
MIRT533470	hsa-miR-183-5p	PAR-CLIP	22012620
MIRT533469	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT533468	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT533467	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT533461	hsa-miR-383-5p	PAR-CLIP	22012620
MIRT533466	hsa-miR-3156-5p	PAR-CLIP	22012620
MIRT533465	hsa-miR-1243	PAR-CLIP	22012620
MIRT533464	hsa-miR-2115-3p	PAR-CLIP	22012620
MIRT533463	hsa-miR-378j	PAR-CLIP	22012620
MIRT533462	hsa-miR-6839-5p	PAR-CLIP	22012620
MIRT533461	hsa-miR-383-5p	PAR-CLIP	22012620
MIRT533460	hsa-miR-593-5p	PAR-CLIP	22012620
MIRT1456025	hsa-miR-125a-5p	CLIP-seq
MIRT1456026	hsa-miR-125b	CLIP-seq
MIRT1456027	hsa-miR-3672	CLIP-seq
MIRT1456028	hsa-miR-4319	CLIP-seq
MIRT1456029	hsa-miR-4324	CLIP-seq
MIRT1456030	hsa-miR-4329	CLIP-seq
MIRT1456031	hsa-miR-4446-5p	CLIP-seq
MIRT1456032	hsa-miR-4732-3p	CLIP-seq
MIRT1456033	hsa-miR-4755-5p	CLIP-seq
MIRT1456034	hsa-miR-513a-3p	CLIP-seq
MIRT1456035	hsa-miR-670	CLIP-seq
MIRT1922443	hsa-miR-1244	CLIP-seq
MIRT1922444	hsa-miR-129-5p	CLIP-seq
MIRT1922445	hsa-miR-139-5p	CLIP-seq
MIRT1922446	hsa-miR-1825	CLIP-seq
MIRT1922447	hsa-miR-199a-5p	CLIP-seq
MIRT1922448	hsa-miR-199b-5p	CLIP-seq
MIRT1922449	hsa-miR-2113	CLIP-seq
MIRT1922450	hsa-miR-24	CLIP-seq
MIRT1922451	hsa-miR-3189-3p	CLIP-seq
MIRT1922452	hsa-miR-4284	CLIP-seq
MIRT1922453	hsa-miR-502-5p	CLIP-seq
MIRT1922454	hsa-miR-599	CLIP-seq
MIRT2136706	hsa-miR-298	CLIP-seq
MIRT2357520	hsa-miR-4755-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000082	Process	G1/S transition of mitotic cell cycle	ISS
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000932	Component	P-body	IDA	23125361
GO:0000932	Component	P-body	IEA
GO:0000932	Component	P-body	ISS
GO:0001843	Process	Neural tube closure	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	23125361
GO:0005737	Component	Cytoplasm	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	ISS
GO:0010608	Process	Post-transcriptional regulation of gene expression	IMP	28431233
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	23125361
GO:0017148	Process	Negative regulation of translation	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021915	Process	Neural tube development	ISS
GO:0030371	Function	Translation repressor activity	IDA	23125361
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0035196	Process	MiRNA processing	IMP	28431233
GO:0035198	Function	MiRNA binding	IDA	28431233
GO:0035198	Function	MiRNA binding	IEA
GO:0035198	Function	MiRNA binding	ISS
GO:0035278	Process	MiRNA-mediated gene silencing by inhibition of translation	IEA
GO:0035278	Process	MiRNA-mediated gene silencing by inhibition of translation	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0051865	Process	Protein autoubiquitination	ISS
GO:0060964	Process	Regulation of miRNA-mediated gene silencing	IEA
GO:0061158	Process	3'-UTR-mediated mRNA destabilization	IDA	23125361
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072089	Process	Stem cell proliferation	ISS
GO:2000177	Process	Regulation of neural precursor cell proliferation	IEA
GO:2000177	Process	Regulation of neural precursor cell proliferation	ISS
GO:2000637	Process	Positive regulation of miRNA-mediated gene silencing	IEA

Other IDs

• MIM: 618570
• HGNC: 32669
• e!Ensembl: ENSG00000206557

Protein

• UniProt ID: Q2Q1W2
• Protein name: E3 ubiquitin-protein ligase TRIM71 (EC 2.3.2.27) (Protein lin-41 homolog) (RING-type E3 ubiquitin transferase TRIM71) (Tripartite motif-containing protein 71)
• Protein function: E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repress
• PDB: 7QRX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00630	Filamin	482 → 577	Filamin/ABP280 repeat	Domain
  PF00643	zf-B_box	273 → 314	B-box zinc finger	Domain
  PF01436	NHL	700 → 727	NHL repeat	Repeat
  PF01436	NHL	794 → 821	NHL repeat	Repeat
  PF01436	NHL	606 → 633	NHL repeat	Repeat
  PF01436	NHL	653 → 680	NHL repeat	Repeat
  PF01436	NHL	747 → 774	NHL repeat	Repeat
  PF01436	NHL	841 → 868	NHL repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in testis. {ECO:0000269|PubMed:15722555}.
• Sequence:

  MASFPETDFQICLLCKEMCGSPAPLSSNSSASSSSSQTSTSSGGGGGGPGAAARRLHVLP
  CLHAFCRPCLEAHRLPAAGGGAAGEPLKLRCPVCDQKVVLAEAAGMDALPSSAFLLSNLL
  DAVVATADEPPPKNGRAGAPAGAGGHSNHRHHAHHAHPRASASAPPLPQAPQPPAPSRSA
  PGGPAASPSALLLRRPHGCSSCDEGNAASSRCLDCQEHLCDNCVRAHQRVRLTKDHYIER
  GPPGPGAAAAAQQLGLGPPFPGPPFSILSVFPERLGFCQHHDDEVLHLYCDTCSVPICRE
  CTMGRHGGHSFIYLQEALQDSRALTIQLLADAQQGRQAIQLSIEQAQTVAEQVEMKAKVV
  QSEVKAVTARHKKALEERECELLWKVEKIRQVKAKSLYLQVEKLRQNLNKLESTISAVQQ
  VLEEGRALDILLARDRMLAQVQELKTVRSLLQPQEDDRVMFTPPDQALYLAIKSFGFVSS
  GAFAPLTKATGDGLKRALQGKVASFTVIGYDHDGEPRLSGGDLMSAVVLGPDGNLFGAEV
  SDQQNGTYVVSYRPQLEGEHLVSVTLCNQHIENSPFKVVVKSGRSYVGIGLPGLSFGSEG
  DSDGKLCRPWGVSVDKEGYIIVADRSNNRIQVFKPCGAFHHKFGTLGSRPGQFDRPAGVA
  CDASRRIVVADKDNHRIQIFTFEGQFLLKFGEKGTKNGQFNYPWDVAVNSEGKILVSDTR
  NHRIQLFGPDGVFLNKYGFEGALWKHFDSPRGVAFNHEGHLVVTDFNNHRLLVIHPDCQS
  ARFLGSEGTGNGQFLRPQGVAVDQEGRIIVADSRNHRVQMFESNGSFLCKFGAQGSGFGQ
  MDRPSGIAITPDGMIVVVDFGNNRILVF

• Sequence length: 868

Pathways

KEGG Pathway:

MicroRNAs in cancer

Reactome Pathway:

Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital hydrocephalus	Likely pathogenic	rs1575362239	RCV000845205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus, congenital communicating, 1	Pathogenic	rs1575362216, rs1575362492	RCV000856614 RCV000856615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Likely pathogenic	rs1696081301	RCV001290746	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIM71-related disorder	Likely pathogenic	rs2471021164	RCV003899304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	18937294	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	38411962	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL COMMUNICATING HYDROCEPHALUS	—	Disgenet, Orphanet Disgenet, Orphanet	29983323	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOSPERMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptozoospermia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, 4	—	Disgenet, HPO Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29071344	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	31604244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	38714721	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	23509962	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	31732746	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31732746, 36244648	Associate	★☆☆☆☆ Found in Text Mining only
Congenital communicating hydrocephalus	Congenital Communicating Hydrocephalus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	30975633, 31371437		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental Disabilities	Development Disorder	BEFREE	27534418		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	29983323, 32816599, 40603987	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25996682	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	25115389	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23097274, 31732746		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25996682, 27821801		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23097274, 27821801, 29541383, 31732746		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27821801, 29541383		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33685397	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MPDZ 3 shared diseasesCongenital communicating hydrocephalus, Congenital hydrocephalus, Hydrocephalus 6 shared evidence sourcesDisgenet (Congenital communicating hydrocephalus), Orphanet (Congenital communicating hydrocephalus), Disgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus), HPO (Congenital hydrocephalus) Related via 3 shared diseases including Congenital communicating hydrocephalus, Congenital hydrocephalus — evidence mostly Disgenet. SMARCC1 2 shared diseasesCongenital hydrocephalus, Hydrocephalus 3 shared evidence sourcesDisgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus) Related via 2 shared diseases including Congenital hydrocephalus, Hydrocephalus — evidence mostly Disgenet. CCDC88C 2 shared diseasesCongenital hydrocephalus, Hydrocephalus 5 shared evidence sourcesDisgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus), GWAS catalog (Congenital hydrocephalus), HPO (Congenital hydrocephalus) Related via 2 shared diseases including Congenital hydrocephalus, Hydrocephalus — evidence mostly Disgenet. SYCP2 2 shared diseasesCryptospermia, Testicular azoospermia 2 shared evidence sourcesDisgenet (Cryptospermia), Disgenet (Testicular azoospermia) Related via 2 shared diseases including Cryptospermia, Testicular azoospermia — evidence mostly Disgenet. WDR81 3 shared diseasesCongenital communicating hydrocephalus, Congenital hydrocephalus, Hydrocephalus 5 shared evidence sourcesOrphanet (Congenital communicating hydrocephalus), Disgenet (Congenital hydrocephalus), Disgenet (Hydrocephalus), ClinVar (Congenital hydrocephalus), HPO (Congenital hydrocephalus) Related via 3 shared diseases including Congenital communicating hydrocephalus, Congenital hydrocephalus — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MPDZ	3	["Congenital communicating hydrocephalus","Congenital hydrocephalus","Hydrocephalus"]	0	[]	6	["Disgenet (Congenital communicating hydrocephalus)","Orphanet (Congenital communicating hydrocephalus)","Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)","HPO (Congenital hydrocephalus)"]
SMARCC1	2	["Congenital hydrocephalus","Hydrocephalus"]	0	[]	3	["Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)"]
CCDC88C	2	["Congenital hydrocephalus","Hydrocephalus"]	0	[]	5	["Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)","GWAS catalog (Congenital hydrocephalus)","HPO (Congenital hydrocephalus)"]
SYCP2	2	["Cryptospermia","Testicular azoospermia"]	0	[]	2	["Disgenet (Cryptospermia)","Disgenet (Testicular azoospermia)"]
WDR81	3	["Congenital communicating hydrocephalus","Congenital hydrocephalus","Hydrocephalus"]	0	[]	5	["Orphanet (Congenital communicating hydrocephalus)","Disgenet (Congenital hydrocephalus)","Disgenet (Hydrocephalus)","ClinVar (Congenital hydrocephalus)","HPO (Congenital hydrocephalus)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 3 of 5 related genesMPDZ, SMARCC1, WDR81 Autism Linked via 3 of 5 related genesMPDZ, SMARCC1, CCDC88C Dementia Linked via 2 of 5 related genesMPDZ, SMARCC1 Gout Linked via 2 of 5 related genesSMARCC1, WDR81 Androgenetic alopecia Linked via 1 of 5 related genesMPDZ

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	3	["MPDZ","SMARCC1","WDR81"]
Autism	3	["MPDZ","SMARCC1","CCDC88C"]
Dementia	2	["MPDZ","SMARCC1"]
Gout	2	["SMARCC1","WDR81"]
Androgenetic alopecia	1	["MPDZ"]