TRIM36 (tripartite motif containing 36)

Gene

• Entrez ID: 55521
• Gene name: Tripartite motif containing 36
• Gene symbol: TRIM36
• Synonyms (NCBI Gene): ANPH, ANPH1, HAPRIN, RBCC728, RNF98
• Chromosome: 5
• Chromosome location: 5q22.3
• Summary: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs773607884	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021589	hsa-miR-142-3p	Microarray	17612493
MIRT021747	hsa-miR-132-3p	Microarray	17612493
MIRT021969	hsa-miR-128-3p	Microarray	17612493
MIRT028267	hsa-miR-32-5p	Sequencing	20371350
MIRT050046	hsa-miR-26b-5p	CLASH	23622248
MIRT545267	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT545266	hsa-miR-7849-3p	PAR-CLIP	20371350
MIRT545265	hsa-miR-4464	PAR-CLIP	20371350
MIRT545264	hsa-miR-4748	PAR-CLIP	20371350
MIRT545263	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028267	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT545262	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT545261	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT545260	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT545259	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT545258	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT545257	hsa-miR-4457	PAR-CLIP	20371350
MIRT545256	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT545255	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT545267	hsa-miR-624-3p	PAR-CLIP	21572407
MIRT545266	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT545265	hsa-miR-4464	PAR-CLIP	21572407
MIRT545264	hsa-miR-4748	PAR-CLIP	21572407
MIRT545263	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028267	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT545262	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT545261	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT545260	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT545259	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT545258	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT545257	hsa-miR-4457	PAR-CLIP	21572407
MIRT545256	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT545255	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT545267	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT545266	hsa-miR-7849-3p	PAR-CLIP	20371350
MIRT545265	hsa-miR-4464	PAR-CLIP	20371350
MIRT545264	hsa-miR-4748	PAR-CLIP	20371350
MIRT545263	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028267	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT545262	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT545261	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT545260	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT545259	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT545258	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT545257	hsa-miR-4457	PAR-CLIP	20371350
MIRT545256	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT545255	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT545267	hsa-miR-624-3p	PAR-CLIP	21572407
MIRT545266	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT545265	hsa-miR-4464	PAR-CLIP	21572407
MIRT545264	hsa-miR-4748	PAR-CLIP	21572407
MIRT545263	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028267	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT545262	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT545261	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT545260	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT545259	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT545258	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT545257	hsa-miR-4457	PAR-CLIP	21572407
MIRT545256	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT545255	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT1454367	hsa-miR-1908	CLIP-seq
MIRT1454368	hsa-miR-3180	CLIP-seq
MIRT1454369	hsa-miR-3180-3p	CLIP-seq
MIRT1454370	hsa-miR-3196	CLIP-seq
MIRT1454371	hsa-miR-4706	CLIP-seq
MIRT1454372	hsa-miR-4734	CLIP-seq
MIRT1454373	hsa-miR-4749-5p	CLIP-seq
MIRT1454374	hsa-miR-486-3p	CLIP-seq
MIRT1454375	hsa-miR-604	CLIP-seq
MIRT1454376	hsa-miR-663	CLIP-seq
MIRT1454377	hsa-miR-744	CLIP-seq
MIRT1454378	hsa-miR-105	CLIP-seq
MIRT1454379	hsa-miR-106a	CLIP-seq
MIRT1454380	hsa-miR-106b	CLIP-seq
MIRT1454381	hsa-miR-124	CLIP-seq
MIRT1454382	hsa-miR-1253	CLIP-seq
MIRT1454383	hsa-miR-1278	CLIP-seq
MIRT1454384	hsa-miR-134	CLIP-seq
MIRT1454385	hsa-miR-137	CLIP-seq
MIRT1454386	hsa-miR-142-5p	CLIP-seq
MIRT1454387	hsa-miR-153	CLIP-seq
MIRT1454388	hsa-miR-15a	CLIP-seq
MIRT1454389	hsa-miR-15b	CLIP-seq
MIRT1454390	hsa-miR-16	CLIP-seq
MIRT1454391	hsa-miR-17	CLIP-seq
MIRT1454392	hsa-miR-194	CLIP-seq
MIRT1454393	hsa-miR-195	CLIP-seq
MIRT1454394	hsa-miR-20a	CLIP-seq
MIRT1454395	hsa-miR-20b	CLIP-seq
MIRT1454396	hsa-miR-23a	CLIP-seq
MIRT1454397	hsa-miR-23b	CLIP-seq
MIRT1454398	hsa-miR-23c	CLIP-seq
MIRT1454399	hsa-miR-25	CLIP-seq
MIRT1454400	hsa-miR-302a	CLIP-seq
MIRT1454401	hsa-miR-302b	CLIP-seq
MIRT1454402	hsa-miR-302c	CLIP-seq
MIRT1454403	hsa-miR-302d	CLIP-seq
MIRT1454404	hsa-miR-302e	CLIP-seq
MIRT1454405	hsa-miR-3118	CLIP-seq
MIRT1454406	hsa-miR-3153	CLIP-seq
MIRT1454407	hsa-miR-3164	CLIP-seq
MIRT1454408	hsa-miR-32	CLIP-seq
MIRT1454409	hsa-miR-320a	CLIP-seq
MIRT1454410	hsa-miR-320b	CLIP-seq
MIRT1454411	hsa-miR-320c	CLIP-seq
MIRT1454412	hsa-miR-320d	CLIP-seq
MIRT1454413	hsa-miR-337-3p	CLIP-seq
MIRT1454414	hsa-miR-340	CLIP-seq
MIRT1454415	hsa-miR-3609	CLIP-seq
MIRT1454416	hsa-miR-363	CLIP-seq
MIRT1454417	hsa-miR-3646	CLIP-seq
MIRT1454418	hsa-miR-3662	CLIP-seq
MIRT1454419	hsa-miR-367	CLIP-seq
MIRT1454420	hsa-miR-3714	CLIP-seq
MIRT1454421	hsa-miR-372	CLIP-seq
MIRT1454422	hsa-miR-373	CLIP-seq
MIRT1454423	hsa-miR-376a	CLIP-seq
MIRT1454424	hsa-miR-376b	CLIP-seq
MIRT1454425	hsa-miR-3910	CLIP-seq
MIRT1454426	hsa-miR-410	CLIP-seq
MIRT1454427	hsa-miR-424	CLIP-seq
MIRT1454428	hsa-miR-4293	CLIP-seq
MIRT1454429	hsa-miR-4429	CLIP-seq
MIRT1454430	hsa-miR-448	CLIP-seq
MIRT1454431	hsa-miR-4501	CLIP-seq
MIRT1454432	hsa-miR-4524	CLIP-seq
MIRT1454433	hsa-miR-4668-5p	CLIP-seq
MIRT1454434	hsa-miR-4696	CLIP-seq
MIRT1454435	hsa-miR-4719	CLIP-seq
MIRT1454436	hsa-miR-4796-3p	CLIP-seq
MIRT1454437	hsa-miR-494	CLIP-seq
MIRT1454438	hsa-miR-496	CLIP-seq
MIRT1454439	hsa-miR-497	CLIP-seq
MIRT1454440	hsa-miR-499-3p	CLIP-seq
MIRT1454441	hsa-miR-499a-3p	CLIP-seq
MIRT1454442	hsa-miR-503	CLIP-seq
MIRT1454443	hsa-miR-506	CLIP-seq
MIRT1454444	hsa-miR-519d	CLIP-seq
MIRT1454445	hsa-miR-520a-3p	CLIP-seq
MIRT1454446	hsa-miR-520b	CLIP-seq
MIRT1454447	hsa-miR-520c-3p	CLIP-seq
MIRT1454448	hsa-miR-520d-3p	CLIP-seq
MIRT1454449	hsa-miR-520e	CLIP-seq
MIRT1454450	hsa-miR-548ah	CLIP-seq
MIRT1454451	hsa-miR-548l	CLIP-seq
MIRT1454452	hsa-miR-548n	CLIP-seq
MIRT1454453	hsa-miR-570	CLIP-seq
MIRT1454454	hsa-miR-596	CLIP-seq
MIRT1454455	hsa-miR-624	CLIP-seq
MIRT1454456	hsa-miR-634	CLIP-seq
MIRT1454457	hsa-miR-640	CLIP-seq
MIRT1454458	hsa-miR-642b	CLIP-seq
MIRT1454459	hsa-miR-646	CLIP-seq
MIRT1454460	hsa-miR-664	CLIP-seq
MIRT1454461	hsa-miR-802	CLIP-seq
MIRT1454462	hsa-miR-92a	CLIP-seq
MIRT1454463	hsa-miR-92b	CLIP-seq
MIRT1454464	hsa-miR-93	CLIP-seq
MIRT1454379	hsa-miR-106a	CLIP-seq
MIRT1454380	hsa-miR-106b	CLIP-seq
MIRT1454384	hsa-miR-134	CLIP-seq
MIRT1454385	hsa-miR-137	CLIP-seq
MIRT1454386	hsa-miR-142-5p	CLIP-seq
MIRT1454387	hsa-miR-153	CLIP-seq
MIRT1454388	hsa-miR-15a	CLIP-seq
MIRT1454389	hsa-miR-15b	CLIP-seq
MIRT1454390	hsa-miR-16	CLIP-seq
MIRT1454391	hsa-miR-17	CLIP-seq
MIRT1454393	hsa-miR-195	CLIP-seq
MIRT1454394	hsa-miR-20a	CLIP-seq
MIRT1454395	hsa-miR-20b	CLIP-seq
MIRT1454399	hsa-miR-25	CLIP-seq
MIRT1454405	hsa-miR-3118	CLIP-seq
MIRT1454407	hsa-miR-3164	CLIP-seq
MIRT1454408	hsa-miR-32	CLIP-seq
MIRT1454415	hsa-miR-3609	CLIP-seq
MIRT1454416	hsa-miR-363	CLIP-seq
MIRT1454419	hsa-miR-367	CLIP-seq
MIRT1454427	hsa-miR-424	CLIP-seq
MIRT1454430	hsa-miR-448	CLIP-seq
MIRT1454431	hsa-miR-4501	CLIP-seq
MIRT1454432	hsa-miR-4524	CLIP-seq
MIRT1454436	hsa-miR-4796-3p	CLIP-seq
MIRT1454439	hsa-miR-497	CLIP-seq
MIRT1454440	hsa-miR-499-3p	CLIP-seq
MIRT1454441	hsa-miR-499a-3p	CLIP-seq
MIRT1454442	hsa-miR-503	CLIP-seq
MIRT1454444	hsa-miR-519d	CLIP-seq
MIRT1454450	hsa-miR-548ah	CLIP-seq
MIRT2136169	hsa-miR-582-5p	CLIP-seq
MIRT1454457	hsa-miR-640	CLIP-seq
MIRT1454459	hsa-miR-646	CLIP-seq
MIRT1454462	hsa-miR-92a	CLIP-seq
MIRT1454463	hsa-miR-92b	CLIP-seq
MIRT1454464	hsa-miR-93	CLIP-seq
MIRT1454379	hsa-miR-106a	CLIP-seq
MIRT1454380	hsa-miR-106b	CLIP-seq
MIRT2357142	hsa-miR-1200	CLIP-seq
MIRT1454384	hsa-miR-134	CLIP-seq
MIRT2357143	hsa-miR-135a	CLIP-seq
MIRT2357144	hsa-miR-135b	CLIP-seq
MIRT1454385	hsa-miR-137	CLIP-seq
MIRT1454386	hsa-miR-142-5p	CLIP-seq
MIRT2357145	hsa-miR-145	CLIP-seq
MIRT1454387	hsa-miR-153	CLIP-seq
MIRT2357146	hsa-miR-155	CLIP-seq
MIRT1454388	hsa-miR-15a	CLIP-seq
MIRT1454389	hsa-miR-15b	CLIP-seq
MIRT1454390	hsa-miR-16	CLIP-seq
MIRT1454391	hsa-miR-17	CLIP-seq
MIRT2357147	hsa-miR-190	CLIP-seq
MIRT2357148	hsa-miR-190b	CLIP-seq
MIRT2357149	hsa-miR-1910	CLIP-seq
MIRT1454393	hsa-miR-195	CLIP-seq
MIRT1454394	hsa-miR-20a	CLIP-seq
MIRT1454395	hsa-miR-20b	CLIP-seq
MIRT2357150	hsa-miR-218	CLIP-seq
MIRT1454396	hsa-miR-23a	CLIP-seq
MIRT1454397	hsa-miR-23b	CLIP-seq
MIRT1454398	hsa-miR-23c	CLIP-seq
MIRT1454399	hsa-miR-25	CLIP-seq
MIRT2357151	hsa-miR-3074-3p	CLIP-seq
MIRT1454405	hsa-miR-3118	CLIP-seq
MIRT1454407	hsa-miR-3164	CLIP-seq
MIRT1454408	hsa-miR-32	CLIP-seq
MIRT2357152	hsa-miR-3200-5p	CLIP-seq
MIRT1454409	hsa-miR-320a	CLIP-seq
MIRT1454410	hsa-miR-320b	CLIP-seq
MIRT1454411	hsa-miR-320c	CLIP-seq
MIRT1454412	hsa-miR-320d	CLIP-seq
MIRT1454415	hsa-miR-3609	CLIP-seq
MIRT2357153	hsa-miR-3611	CLIP-seq
MIRT2357154	hsa-miR-3618	CLIP-seq
MIRT1454416	hsa-miR-363	CLIP-seq
MIRT1454417	hsa-miR-3646	CLIP-seq
MIRT2357155	hsa-miR-3659	CLIP-seq
MIRT1454419	hsa-miR-367	CLIP-seq
MIRT1454420	hsa-miR-3714	CLIP-seq
MIRT2357156	hsa-miR-380	CLIP-seq
MIRT1454427	hsa-miR-424	CLIP-seq
MIRT1454428	hsa-miR-4293	CLIP-seq
MIRT2357157	hsa-miR-4324	CLIP-seq
MIRT2357158	hsa-miR-4328	CLIP-seq
MIRT1454429	hsa-miR-4429	CLIP-seq
MIRT1454430	hsa-miR-448	CLIP-seq
MIRT2357159	hsa-miR-4495	CLIP-seq
MIRT1454431	hsa-miR-4501	CLIP-seq
MIRT1454432	hsa-miR-4524	CLIP-seq
MIRT2357160	hsa-miR-455-3p	CLIP-seq
MIRT2357161	hsa-miR-4658	CLIP-seq
MIRT2357162	hsa-miR-4684-3p	CLIP-seq
MIRT1454435	hsa-miR-4719	CLIP-seq
MIRT2357163	hsa-miR-4771	CLIP-seq
MIRT1454436	hsa-miR-4796-3p	CLIP-seq
MIRT2357164	hsa-miR-488	CLIP-seq
MIRT1454437	hsa-miR-494	CLIP-seq
MIRT1454438	hsa-miR-496	CLIP-seq
MIRT1454439	hsa-miR-497	CLIP-seq
MIRT1454440	hsa-miR-499-3p	CLIP-seq
MIRT1454441	hsa-miR-499a-3p	CLIP-seq
MIRT1454442	hsa-miR-503	CLIP-seq
MIRT2357165	hsa-miR-512-5p	CLIP-seq
MIRT2357166	hsa-miR-518a-5p	CLIP-seq
MIRT1454444	hsa-miR-519d	CLIP-seq
MIRT2357167	hsa-miR-527	CLIP-seq
MIRT2357168	hsa-miR-544b	CLIP-seq
MIRT2357169	hsa-miR-548a-5p	CLIP-seq
MIRT2357170	hsa-miR-548ab	CLIP-seq
MIRT2357171	hsa-miR-548ae	CLIP-seq
MIRT1454450	hsa-miR-548ah	CLIP-seq
MIRT2357172	hsa-miR-548aj	CLIP-seq
MIRT2357173	hsa-miR-548ak	CLIP-seq
MIRT2357174	hsa-miR-548am	CLIP-seq
MIRT2357175	hsa-miR-548an	CLIP-seq
MIRT2357176	hsa-miR-548b-5p	CLIP-seq
MIRT2357177	hsa-miR-548c-3p	CLIP-seq
MIRT2357178	hsa-miR-548c-5p	CLIP-seq
MIRT2357179	hsa-miR-548d-5p	CLIP-seq
MIRT2357180	hsa-miR-548h	CLIP-seq
MIRT2357181	hsa-miR-548i	CLIP-seq
MIRT2357182	hsa-miR-548j	CLIP-seq
MIRT2357183	hsa-miR-548k	CLIP-seq
MIRT1454451	hsa-miR-548l	CLIP-seq
MIRT2357184	hsa-miR-548w	CLIP-seq
MIRT2357185	hsa-miR-548x	CLIP-seq
MIRT2357186	hsa-miR-548y	CLIP-seq
MIRT2357187	hsa-miR-559	CLIP-seq
MIRT2357188	hsa-miR-574-5p	CLIP-seq
MIRT2357189	hsa-miR-579	CLIP-seq
MIRT2136169	hsa-miR-582-5p	CLIP-seq
MIRT1454455	hsa-miR-624	CLIP-seq
MIRT1454456	hsa-miR-634	CLIP-seq
MIRT2357190	hsa-miR-636	CLIP-seq
MIRT1454457	hsa-miR-640	CLIP-seq
MIRT1454459	hsa-miR-646	CLIP-seq
MIRT2357191	hsa-miR-660	CLIP-seq
MIRT2357192	hsa-miR-758	CLIP-seq
MIRT2357193	hsa-miR-889	CLIP-seq
MIRT1454462	hsa-miR-92a	CLIP-seq
MIRT1454463	hsa-miR-92b	CLIP-seq
MIRT1454464	hsa-miR-93	CLIP-seq
MIRT2357194	hsa-miR-934	CLIP-seq
MIRT1454384	hsa-miR-134	CLIP-seq
MIRT1454385	hsa-miR-137	CLIP-seq
MIRT1454387	hsa-miR-153	CLIP-seq
MIRT1454388	hsa-miR-15a	CLIP-seq
MIRT1454389	hsa-miR-15b	CLIP-seq
MIRT1454390	hsa-miR-16	CLIP-seq
MIRT1454393	hsa-miR-195	CLIP-seq
MIRT1454399	hsa-miR-25	CLIP-seq
MIRT1454405	hsa-miR-3118	CLIP-seq
MIRT1454407	hsa-miR-3164	CLIP-seq
MIRT1454408	hsa-miR-32	CLIP-seq
MIRT1454416	hsa-miR-363	CLIP-seq
MIRT1454419	hsa-miR-367	CLIP-seq
MIRT1454427	hsa-miR-424	CLIP-seq
MIRT1454430	hsa-miR-448	CLIP-seq
MIRT1454431	hsa-miR-4501	CLIP-seq
MIRT1454432	hsa-miR-4524	CLIP-seq
MIRT1454439	hsa-miR-497	CLIP-seq
MIRT1454442	hsa-miR-503	CLIP-seq
MIRT1454459	hsa-miR-646	CLIP-seq
MIRT1454462	hsa-miR-92a	CLIP-seq
MIRT1454463	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	28087737
GO:0001669	Component	Acrosomal vesicle	IBA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IDA	28087737
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007051	Process	Spindle organization	IBA
GO:0007051	Process	Spindle organization	IMP	28087737
GO:0007340	Process	Acrosome reaction	IBA
GO:0007340	Process	Acrosome reaction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043014	Function	Alpha-tubulin binding	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IMP	28087737

Other IDs

• MIM: 609317
• HGNC: 16280
• e!Ensembl: ENSG00000152503

Protein

• UniProt ID: Q9NQ86
• Protein name: E3 ubiquitin-protein ligase TRIM36 (EC 2.3.2.27) (RING finger protein 98) (RING-type E3 ubiquitin transferase TRIM36) (Tripartite motif-containing protein 36) (Zinc-binding protein Rbcc728)
• Protein function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fer
• PDB: 7QS4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13445	zf-RING_UBOX	33 → 86	RING-type zinc-finger	Domain
  PF00643	zf-B_box	207 → 249	B-box zinc finger	Domain
  PF18568	COS	359 → 408	TRIM C-terminal subgroup One Signature domain	Domain
  PF00041	fn3	426 → 500	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis, prostate and brain (PubMed:15145053). Weakly expressed in kidney, lung and heart (PubMed:15145053). Expressed in fetal tissues (PubMed:28087737). {ECO:0000269|PubMed:15145053, ECO:0000269|PubMed:28087737}.
• Sequence:

  MSESGEMSEFGYIMELIAKGKVTIKNIERELICPACKELFTHPLILPCQHSICHKCVKEL
  LLTLDDSFNDVGSDNSNQSSPRLRLPSPSMDKIDRINRPGWKRNSLTPRTTVFPCPGCEH
  DVDLGERGINGLFRNFTLETIVERYRQAARAATAIMCDLCKPPPQESTKSCMDCSASYCN
  ECFKIHHPWGTIKAQHEYVGPTTNFRPKILMCPEHETERINMYCELCRRPVCHLCKLGGN
  HANHRVTTMSSAYKTLKEKLSKDIDYLIGKESQVKSQISELNLLMKETECNGERAKEEAI
  THFEKLFEVLEERKSSVLKAIDSSKKLRLDKFQTQMEEYQGLLENNGLVGYAQEVLKETD
  QSCFVQTAKQLHLRIQKATESLKSFRPAAQTSFEDYVVNTSKQTELLGELSFFSSGIDVP
  EINEEQSKVYNNALINWHHPEKDKADSYVLEYRKINRDDEMSWNEIEVCGTSKIIQDLEN
  SSTYAFRVRAYKGSICSPCSRELILHTPPAPVFSFLFDEKCGYNNEHLLLNLKRDRVESR
  AGFNLLLAAERIQVGYYTSLDYIIGDTGITKGKHFWAFRVEPYSYLVKVGVASSDKLQEW
  LRSPRDAVSPRYEQDSGHDSGSEDACFDSSQPFTLVTIGMQKFFIPKSPTSSNEPENRVL
  PMPTSIGIFLDCDKGKVDFYDMDQMKCLYERQVDCSHTLYPAFALMGSGGIQLEEPITAK
  YLEYQEDM

• Sequence length: 728

Pathways

Reactome:

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
Anencephaly	Pathogenic	rs773607884	RCV000496691	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly 1	Benign	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
APROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIM36-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36035305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	BEFREE	28087737		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anencephaly	Anencephaly	UNIPROT_DG	28087737		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anencephaly	Anencephaly	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anencephaly	Anencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aprosencephaly	Aprosencephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	37499630	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35529267	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37875418	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36588538	Associate	★☆☆☆☆ Found in Text Mining only
incomplete anencephaly, hemicrania	Incomplete Anencephaly, Hemicrania	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15145053, 29449534, 30238687		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30944633		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15145053		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26599082, 28359976		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	25298284	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15145053, 29449534, 30238687		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15145053		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30238687, 38179769	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36799474	Inhibit	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30944633		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	32149111	Associate	★☆☆☆☆ Found in Text Mining only