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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7204
Gene name	Trio Rho guanine nucleotide exchange factor
Gene symbol	TRIO
Synonyms (NCBI Gene)	ARHGEF23MEBASMRD44MRD63tgat
Chromosome	5
Chromosome location	5p15.2
Summary	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript

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SNP ID	Visualize variation	Clinical significance	Consequence
rs879255622	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879255623	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255624	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs879255625	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255626	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255627	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255628	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs905287265	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516029	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1435239428	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1436796227	->C,CC	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs1554054155	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062562	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062588	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064737	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064863	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554065893	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068529	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554070777	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554086647	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1554091578	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561518112	G>A	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1579448914	GT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579522661	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1579564431	A>G	Likely-pathogenic	Splice acceptor variant
rs1579803563	GC>CGAGGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1579804792	->CCGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant

257

Show/Hide all (257)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020707	hsa-miR-155-5p	Proteomics	18668040
MIRT028297	hsa-miR-32-5p	Sequencing	20371350
MIRT028514	hsa-miR-30a-5p	Proteomics	18668040
MIRT052599	hsa-let-7a-5p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT095655	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT095658	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028297	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT1456207	hsa-miR-1299	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456209	hsa-miR-139-3p	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT1456220	hsa-miR-3123	CLIP-seq
MIRT1456221	hsa-miR-3133	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT1456230	hsa-miR-3677-5p	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT1456234	hsa-miR-383	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456238	hsa-miR-4307	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT1456241	hsa-miR-4511	CLIP-seq
MIRT1456242	hsa-miR-4635	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456250	hsa-miR-4772-5p	CLIP-seq
MIRT1456251	hsa-miR-4782-5p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456253	hsa-miR-502-5p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT1456255	hsa-miR-516b	CLIP-seq
MIRT1456256	hsa-miR-539	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456262	hsa-miR-570	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456267	hsa-miR-935	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2136774	hsa-miR-1293	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2136775	hsa-miR-3132	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT2136782	hsa-miR-4447	CLIP-seq
MIRT2136783	hsa-miR-4472	CLIP-seq
MIRT2136784	hsa-miR-4483	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2136787	hsa-miR-4651	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT2136790	hsa-miR-541	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT2136793	hsa-miR-608	CLIP-seq
MIRT2136794	hsa-miR-654-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2357543	hsa-miR-129-5p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT2357547	hsa-miR-200b	CLIP-seq
MIRT2357548	hsa-miR-200c	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT2357549	hsa-miR-2964a-5p	CLIP-seq
MIRT2357550	hsa-miR-298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2357552	hsa-miR-3140-5p	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT2357554	hsa-miR-345	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT2357555	hsa-miR-3607-5p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT2357556	hsa-miR-3614-5p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT2357557	hsa-miR-3663-3p	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT2357558	hsa-miR-3673	CLIP-seq
MIRT2357559	hsa-miR-3678-3p	CLIP-seq
MIRT2357560	hsa-miR-3689a-5p	CLIP-seq
MIRT2357561	hsa-miR-3689b	CLIP-seq
MIRT2357562	hsa-miR-3689e	CLIP-seq
MIRT2357563	hsa-miR-3689f	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357565	hsa-miR-3920	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT2357566	hsa-miR-429	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT2357568	hsa-miR-4318	CLIP-seq
MIRT2357569	hsa-miR-4427	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2357570	hsa-miR-450b-5p	CLIP-seq
MIRT2357571	hsa-miR-4663	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT2357572	hsa-miR-4679	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT2357573	hsa-miR-4693-5p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT2357578	hsa-miR-507	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT2357579	hsa-miR-557	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT2357582	hsa-miR-711	CLIP-seq
MIRT2357583	hsa-miR-759	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2357584	hsa-miR-890	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2434365	hsa-miR-491-3p	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	8643598
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	8643598
GO:0005515	Function	Protein binding	IPI	17043677, 19846667, 21422296, 22666460, 31413325
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007185	Process	Cell surface receptor protein tyrosine phosphatase signaling pathway	TAS	8643598
GO:0007411	Process	Axon guidance	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019898	Component	Extrinsic component of membrane	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0048786	Component	Presynaptic active zone	IDA	27907191
GO:0048786	Component	Presynaptic active zone	IMP	27907191
GO:0048812	Process	Neuron projection morphogenesis	IMP	32109419
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	26858404
GO:0098978	Component	Glutamatergic synapse	IMP	26858404
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IDA	26858404
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IMP	26858404
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
601893	12303	ENSG00000038382

O75962

Protein name

Triple functional domain protein (EC 2.7.11.1) (PTPRF-interacting protein)

Protein function

Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:22155786, PubMed:27418539, PubMed:8643598). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786)

PDB

1NTY , 2NZ8 , 6D8Z , 7SJ4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00650	CRAL_TRIO	67 → 205	CRAL/TRIO domain	Domain
PF00435	Spectrin	340 → 446	Spectrin repeat	Domain
PF00435	Spectrin	566 → 672	Spectrin repeat	Domain
PF00435	Spectrin	907 → 1011	Spectrin repeat	Domain
PF00435	Spectrin	1138 → 1244	Spectrin repeat	Domain
PF00621	RhoGEF	1296 → 1468	RhoGEF domain	Domain
PF00169	PH	1480 → 1591	PH domain	Domain
PF00018	SH3_1	1662 → 1713	SH3 domain	Domain
PF16609	SH3-RhoG_link	1715 → 1972		Disordered
PF00621	RhoGEF	1973 → 2143	RhoGEF domain	Domain
PF00169	PH	2159 → 2271	PH domain	Domain
PF07679	I-set	2685 → 2776	Immunoglobulin I-set domain	Domain
PF00069	Pkinase	2796 → 3050	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, skeletal muscle, and brain. {ECO:0000269|PubMed:8643598}.

Sequence

MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEM
KAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVC
KRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFE
TNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDI
LAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSG
NADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNK
GLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIR
QIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDL
EDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDV
IHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSL
HRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFV
RRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTT
LQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKI
KLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNN
LTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHR
KHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKT
HQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTS
EQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRN
ADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQY
VVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLI
QLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQ
LDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLW
EMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKF
QMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELL
TCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTL
IRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVG
RTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRR
DGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRG
QTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVS
SNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKH
KKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEG
EEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSK
MALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVET
ERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLED
PEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKP
VQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVA
QGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKV
SCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNAL
TSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSR
IPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAE
GSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSP
LSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPG
KDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQI
LASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRK
KSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGE
TVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCI
AVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKR
AVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDC
VVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDA
VQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEET
CLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGV
LDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV

Sequence length

3097

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events G alpha (12/13) signalling events DCC mediated attractive signaling

462

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 28	Likely pathogenic; Pathogenic	rs2532735873, rs1554065887	RCV004017203 RCV000760240
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	Likely pathogenic; Pathogenic	rs2152284932, rs2152305937, rs746654944, rs879255628, rs2533501391, rs2533486612, rs1554065887, rs1745369142, rs1747669042, rs1745368018, rs1747667518, rs748670822	RCV002226932 RCV002226961 RCV002288351 RCV001030053 RCV003335801 RCV004566620 RCV001030433 RCV001030434 RCV001030435 RCV003147600 RCV001256180 RCV001256181 RCV001775162
Intellectual disability	Likely pathogenic; Pathogenic	rs1554065887, rs752676391, rs1747667518, rs1746764895	RCV001260804 RCV001260798 RCV001260786 RCV001261383
Microcephaly	Likely pathogenic	rs1435239428	RCV001003587
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	Likely pathogenic; Pathogenic	rs1747352673, rs2126611738, rs2152373759, rs2152340697, rs2126522675, rs2152285036, rs2152354197, rs1747667518, rs140745100, rs2533489360, rs2532852191, rs2532138789, rs2532073497, rs879255622, rs879255623 View all (34 more)	RCV001334640 RCV001724747 RCV001814904 RCV002211056 RCV002226844 RCV002244306 RCV002249191 RCV002262173 RCV002274470 RCV002286473 RCV002286487 RCV002289120 RCV002468852 RCV000239538 RCV000239592 RCV000239483 RCV000239545 RCV000239597 RCV000239509 RCV000239559 RCV003326708 RCV003330137 RCV003387560 RCV003389356 RCV003494533 RCV003984953 RCV003991162 RCV003992125 RCV003993712 RCV004545914 RCV004555492 RCV004566619 RCV004595112 RCV000408638 RCV000995906 RCV001706682 RCV001256179 RCV000825015 RCV000995907 RCV002249637 RCV001030436 RCV001030438 RCV001262381 RCV002508951 RCV001252381 RCV001253412 RCV001253281 RCV001254176 RCV001260912
Neurodevelopmental delay	Likely pathogenic	rs2152373800	RCV002274430
See cases	Likely pathogenic; Pathogenic	rs752676391	RCV002252297
Tip-toe gait	Likely pathogenic	rs2152290090	RCV002225251
TRIO-related disorder	Likely pathogenic; Pathogenic	rs879255626, rs2532769281, rs2533582735, rs2533042732, rs2533562200, rs1227524890, rs1745369142, rs1747669042, rs1747351918	RCV004547623 RCV004548624 RCV004550655 RCV004550786 RCV004548973 RCV004548855 RCV004553564 RCV002508954 RCV004548113

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs149771551, rs146739260	RCV005916025 RCV005901021
Autism spectrum disorder	Likely benign	rs779844024, rs780426892	RCV003127354 RCV003127355
Cervical cancer	Likely benign; Benign	rs372683, rs146739260	RCV005917517 RCV005901023
Cholangiocarcinoma	Benign	rs16903389	RCV005918534
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	rs373471708	RCV005626469
Developmental delay	Uncertain significance	rs1487014323, rs1045136451	RCV003154196 RCV003154289
Developmental disorder	Likely benign	rs2126720106	RCV001843733
EBV-positive nodal T- and NK-cell lymphoma	Likely benign; Uncertain significance	rs2532113187, rs2532672263	RCV004558024 RCV004558025
Familial cancer of breast	Benign; Likely benign	rs30794, rs200617691, rs146739260	RCV005919821 RCV005924770 RCV005901020
Gastric cancer	Benign	rs30782	RCV005919540
Glioma susceptibility 1	Likely benign	rs199861793	RCV005922549
Hereditary ataxia	Uncertain significance	rs746360543	RCV005626439
Intellectual disability, autosomal dominant 40	Conflicting classifications of pathogenicity	rs377248579	RCV002466576
Lung cancer	Benign; Likely benign	rs146739260	RCV005901025
Malignant tumor of esophagus	Likely benign; Benign	rs114687159, rs16903389, rs146739260	RCV005919049 RCV005918533 RCV005901022
Neurodevelopmental abnormality	Likely benign	rs755777586	RCV001264643
Neurodevelopmental disorder	Uncertain significance; not provided	rs2126551592, rs2532222119	RCV001780049 RCV002509024
Ovarian cancer	Benign	rs200617691	RCV005924771
Ovarian serous cystadenocarcinoma	Likely benign	rs138099114, rs149771551	RCV005916044 RCV005916026
Sarcoma	Benign; Likely benign	rs146739260	RCV005901024
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs56035446, rs762460319	RCV005931997 RCV005927074
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs149771551, rs537149506	RCV005916027 RCV005921430

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	32109419, 34914033
Breast Neoplasms	Associate	23380069
Carcinoma Hepatocellular	Associate	25851347
Carcinoma Non Small Cell Lung	Associate	34496260
Cardiovascular Diseases	Associate	36197256
Chromosome Disorders	Associate	31515286
Developmental Disabilities	Associate	32109419, 33167890
Disease	Associate	32109419
Ectodermal Dysplasia	Associate	33167890
Encephalitis	Associate	22586486
Fetal Diseases	Associate	30992551
Fundus Albipunctatus	Associate	28764803
Glioblastoma	Associate	29363730
Hearing Loss	Associate	29363730
Hypophosphatasia	Associate	39519277
Intellectual Disability	Associate	32109419
Kashin Beck Disease	Associate	31220921
Lung Neoplasms	Associate	32648197
Lymphatic Metastasis	Stimulate	25851347
Malignant hyperthermia susceptibility type 4	Associate	15215162
Megalencephaly	Associate	33167890
Meningitis Aseptic	Associate	22586486
Mental Disorders	Associate	26235986
Microcephaly	Associate	33167890
Mosaic variegated aneuploidy syndrome	Associate	31515286
Neoplasm Invasiveness	Associate	15215162
Neoplasms	Stimulate	15215162
Neoplasms	Associate	25803821, 25851347, 28776571
Nerve Degeneration	Associate	22586486
Proteinuria	Associate	34616010
Triple Negative Breast Neoplasms	Associate	36075896
Urinary Bladder Neoplasms	Associate	15215162
Uterine Cervical Neoplasms	Associate	17311676

TRIO (trio Rho guanine nucleotide exchange factor)